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newborn screening

Series of blood tests performed on a neonate with the goal of early identification and treatment of disease.
- Individual tests for specific diseases
- Tandem mass spec
- Genetic probes
Hearing screen
Pulse oximetry screening
Note: it is continually evolving


history of newborn screenings

varies by state; 2000 congress mandated increased federal involvement to correct disparities
- 1961: PKU first screen began in MA


features of any screening test

High sensitivity

Disease with severity which would warrant early detection

Cheap, easy and fast

Definitive test is available

Early detection can change the course of the illness

Treatment available: historically a requirement, now controversial.



probability that a person who truly has a disease will have a positive test. This is a “true positive”
- inversely related to specificity



probability that a person who really does not have the disease will have a negative test. This is a “true negative.”
- inversely related to sensitivity


false negative

person who tests as negative but who is actually positive
- results in delayed detection of disease


false positive

person who tests as positive but who is actually negative.
- results in unnecessary testing and therapeutics


positive predictive value

likelihood that a person has the disease given a positive test result


negative predictive value

the likelihood that a person does not have the disease given a negative test result


process of newborn screening

HHS (federal) now mandates what to screen for and gives states time to comply; trying to make more uniform among states
- all state use public funds
- CO: tests are paid by fees required by and collected by the state (covered by insurance and medicaid)
Blood tests performed at the State Department of Public Health and Environment (CDPHE)


newborn screening in CO

initial and second blood spot tests for newborns required by law
- some things do not show up as early (endocrine disorders and hypothyroidism)
- CO also gets WY samples


what was included on the standard screen prior to 2006 (when mass spec was added)

Congenital Hypothyroidism
Congenital Adrenal Hyperplasia

Cystic Fibrosis
Biotinidase Deficiency
B.A.E.R. (hearing test)

Note: top 4 on second NBS as well


tests that use drug blood spot samples

Congenital Hypothyroidism
Hemoglobinopathies (Sickle Cell Disease)
Cystic fibrosis


expanded metabolic screen - added in 2006 (mass spec)

With any given sample can detect up to 40 disorders
- Colorado reports on only 23 disorders (those for which are recommended by March of Dimes, for which there is treatment)

Primarily disorders of organic, amino and fatty acid metabolism

Potential for additional diseases


what's new in blood spot screening?

Bart's Hemoglobin
Potential for spinal muscular atrophy screen
Pompay's Disease: glycogen storage disease



First and classic congenital disease identified by newborn screen

Disorder of amino acid metabolism; caused by an enzyme deficiency

Occurs in 1 in 10-15,000 live births
between 1979 and 2003
Prevalence Rate: 0.01% or 27,200 people in USA

Untreated, causes developmental delay and often, severe cognitive impairment


PKU - untreated

Symptoms of PKU include neurodevelopmental problems:
- Developmental delay to severe cognitive impairment
- Seizures
- Autism
- Hyperactivity
- Aggressive behavior

Hair and skin changes incl. hypo pigmentation (melanoma missing)


PKU - treated

Tx: diet restriction; elimination of specific AA
Children can live healthy life and be developmentally normal
Current recommendation is lifelong diet

NOTE: Children of mom with PKU off diet during pregnancy at risk for congenital heart disease



Most common true positive test
- Incidence is 1 in 3600 to 5000 births

Screen for T4, if abnormal, check TSH
- Timing is important since all newborns have a TSH spike after delivery
- Check as close to or after 24 hours

Main reason why second screen was added in 1996


hypothyroidism - treated and untreated

- causes "cretinism" (severely stunted physical and mental growth)
- cognitive impairment, growth and neurologic abnormalities, fatigue, skin changes, coarse hair, large tongue

Treated with thyroid hormone for life: normal IQ, good health


sickle cell disease (hemogloinopathies)

primarily a RBC disease but since blood flow is sluggish, spleen gets infarcted early in life and affects WBCs too

Sx: Painful crises
Aplastic crises
Predisposition to infection
Tendency toward infarction
Bony changes associated with high blood cell turnover

Incidence of Sickle Cell Disease is 1 in 500 African Americans


hemogloinopathies (sickle cell) screen

Screening Test is isoelectric focusing, then electrophoresis

Confirmatory Test: Hemoglobin Electrophoresis (not fast enough for screening test - this is a diagnostic test)


sickle cell treatment

Early immunization against “encapsulated organisms,” (pneumococcus and H.flu) - likely to loose spleen

Penicillin prophylaxis

Early treatment of crises - painful (pain meds)

Attention toward hydration (helps with thick blood)

Avoid triggers such as infection, hypoxia (such as altitude)

Genetic counseling of parents


cystic fibrosis

Disorder of membrane transport of ions (sodium and chloride)
Presents with:
- Chronic lung disease (secretions can’t be cleared and act as plugs)

- Malabsorption/ malnutrition (secretions are thick and block pancreatic function)


cystic fibrosis treatment

Managed, not cured
- new medication: Kalydeco (genetic intervention med resolved symptoms in 4% - one strain)

Antibiotics, preventive and therapeutic


Exogenous pancreatic enzymes

Attention to nutrition

Life expectancy now 40 years


cystic fibrosis diagnosis

Screen measures immunoreactive trypsinogen (1st and 2nd screen)

Definitive test is sweat chloride (older - not babies)

Genetic testing for specific mutation


M.C.A.D.D (Medium chain acyl-CoA dehydrogenase deficiency)

metabolic disease detected as part of mass spec test
- disorder of fatty acid oxidation that impairs the body's ability to break down medium-chain fatty acids into acetyl-CoA


M.C.A.D.D. - symptoms and treatment

Times of stress and fasting: cause hypoglycemia and shock

Treatment: avoid fasting & dehydration and administer carnitine (plays a crucial role in energy production, as it is responsible for transporting fatty acids (acetyl choline?) to the mitochondria)


SCID - Severe Combined Immune Deficiency ("bubble boy disease")

Most debilitating human lymphoid deficiency disease, impairs the differentiation of both T and B lymphocytes

Infants are highly susceptible to recurring infections of viruses, fungi and bacteria

Invariably die within 2yr of birth


SCID - testing and treatment

Test is a genetic probe
- some inconsistency yet in the test
- results sent to National Jewish Lab for confirmatory test, a second genetic marker

Treatment: bone marrow transplant


Bart's Hemoglobin

Normal adult hemoglobin, Hbg A, has 2 alpha and 2 beta strands - Bart’s hemoglobin is a tetramer of 4 beta strands

Genetic probe used for screening test; hemoglobin electrophoresis confirmatory test

Found in alpha-thalassemia: severity based on # of genes missing (silent carrier v. hydrous fatalis and incompatible with life b/c RBC cannot carry O2)

Found in hemoglobin H disease: RBCs have high binding of O2 so they don't release it to tissues as well - anemia


What two diseases can be protective against malaria?

sickle cell disease and alpha-thalassemia
- worldwide distribution is same as malaria belt


SMA (spinal muscular atrophy) - candidate for future screening

2nd most frequently observed autosomal recessive lethal disorder

Clinical presentation ranges from a perinatal lethal to adult onset disease.
- Type I lethal in first year of life

New treatment options and a clearer understanding of the natural history have made SMA a candidate for prospective screening


timing of newborn screening test

1st screen 24 to 48 hours
- need several feeds to diagnose galactosemia
- wait until after TSH spike
- normal values on CF and CAH tests vary according to age at time of test

2nd screen 8 to 14 days (range 3 to 30 days)


How is newborn screening performed?

Blood is drawn from baby’s heel and allowed to dry on filter paper

Sent to Colorado Dept. of Public Health and Environment where individual tests are run

Results sent to hospital, PCP, specialty follow-up clinics and definitive tests arranged with families


newborn screening beyond blood spot

hearing screening

pulse oximetry for critical congenital heart disease


congenital hearing loss

American Academy of Pediatrics: recommend that hearing loss in infants be identified prior to 6 months of age - better prognosis for speech and cognitive abilities

BEAR: Brainstem auditory evoked response measures brainwave response to broadband click
- best at 2 wks but newborns usually get screen b/f leave hospital


pulse ox screening for C.C.H.D. (critical congenital heart disease - needs tx in 1st month of life)

- Performed after 24 hours
- Place probe on right hand (pre-ductal) and one foot.
- Room air saturation less than 95% requires further workup
- Definitive test is echocardiogram

Lesions identified:
- Tetralogy of Fallot
- Transposition of Arteries
- Truncus Arteriosis
- Tricuspid Atresia
- Pulmonic Stenosis
- Hypoplastic Left Heart
- Coarctation of the Aorta

NOTE: will not pick up CHDs that do not cause cyanosis!!



complete or partial absence or abnormal formation of a structure caused by environmental or genetic factors which interfere with development

Most originate during the period of organogenesis, the 3rd to 8th weeks of gestation.
- ex. Congenital heart defect

MOST common cause of infant mortality in the U.S. (more than prematurity and SIDS)

Can be minor or major (see below)



groups of anomalies occurring together with a common cause



groups of anomalies occurring together more often than chance alone would allow but cause is unknown



one primary defect causes the next, which causes the next

Example: Pieere Robin sequence:
- small chin causes tongue to be pushed up and back (glossoptosis)
- position of tongue prevents normal closure of palate, causing cleft palate
- results in obstruction of airway and feeding difficulties



body part which was forming normally but was acted upon by environment to be distorted; most often musculoskeletal and fixable
- ex. clubfoot



body part was forming normally when an event occurs that changes it dramatically and irreversibly– often amniotic bands or vascular accident
- often not fixable (more disruptive than deformation)


minor malformations

Occur in less than 4% of population; no major intrinsic medical significance
- 70% found on face or hands
- ex. syndactyly (fingers connected)

Significance: more minor anomalies = more likely to have major anomaly

Note: 3 minor anomalies = 20% inc. major anomaly


transverse palmar crease

Single, uninterrupted horizontal crease on palm
- previously called “simian crease”

Occurs in 45% of babes with Down Syndrome
4% of Caucasians (minor anomaly)
16% of Chinese (normal variant)


major malformation

congenital defect of surgical, medical or functional significance
- ex. omphalocele (intestines protrude from stomach) or congenital heart disease (Tetralogy of Fallot)


types of genetic defects

chromosomal disorders:
- abnormalities of number (e.g. Trisomy (3 copies of 1) v. triploidy (3 copies of all))
- abnormalities of structure (e.g. Deletions or duplications of portions of chromosome)

Single gene disorders
- duplications
- substitutions

autosomal dominant
autosomal recessive


genomic defects

Genomics is a subset of genetics in which we look at the turning on or off of specific genes
- can be caused by environmental factors
- explains how normal tissues vary from organ to organ
-also explains how teratogens can effect the expression of an individual’s genetic makeup


prenatal diagnosis of genetic defects - two techniques

Two techniques:
- amniocentesis
- chorionic villus sampling

Can be used for:
- biochemical screening
- genetic screening
FISH probe



Under ultrasound guidance, a spinal needle is inserted through the maternal abdominal wall and uterine wall, into a pocket of amniotic fluid (contains cells from skin and kidney)

Risks: greater in first trimester than second
- fetal loss
- damage to fetal structures
- leakage of amniotic fluid


chorionic villus sampling

best performed at 11-13 weeks (adv: can do earlier than amniocentesis; if later would just do amnio)
- Requires ultrasound guidance
- approach may be trans-vaginal or trans-abdominal (depending upon location of the placenta)
- Needle biopsies a portion of the chorion

Risks: 2-3% risk of fetal loss, very low if any fetal abnormalities if after 10 weeks


diagnosis of genetic diseases

physical exam
- Karyotyping
- FISH probe
- Microarray (genomic)


Why make diagnosis of a syndrome in a neonate?

External signs give clues to serious, internal malformations

Enables provider to help family plan early interventions for expected issues

Genetic counseling; incl. likelihood of recurrence

Helps family to deal with uncertainty / get support


karyotyping - definition and indications

Visual inspection of chromosomes and their banding (ID’s all types of specific abnormalities)

- Confirmation of a known syndrome
- Infants with multiple congenital anomalies
- Child with developmental delays and morphologic changes
- Ambiguous genitalia
- Still born infant with malformation (5-15% of babies will have a chromosomal abnormality)

Advantage: can see structure of chromosomes

Disadvantage: needs to grow in culture - takes a week


FISH Probe

Fluorescent In Situ Hybridization
- DNA probe + label
- Hybridize with sample cells
- Fluorescent detector

Disadvantage: Asks a specific question; ie. You have to have the disorder in mind when selecting which probe to use
- helpful for genital ambiguity

Advantage: results in 24 hours



mainstay in genetic analysis!

Microarray analysis involves breaking open a cell, isolating its genetic contents, identifying all the genes that are turned on in that particular cell, and generating a list of those genes.

A DNA micorarray allows scientists to perform an experiment on thousands of genes at the same time.

Each spot on a microarray contains multiple identical strands of DNA.

The DNA sequence on each spot is unique.

Each spot represents one gene.

Thousands of spots are arrayed in orderly rows and columns on a solid surface (usually glass).

The precise location and sequence of each spot is recorded in a computer database.

Microarrays can be the size of a microscope slide, or even smaller.


Trisomy 21 - Down Syndrome

Babies are born with three copies of chromosome 21
- complete: 100% of cells involved
- mosaic: varying percentage of cells involved

NOTE: % of cells is proportional to severity of symptoms

Incidence: 1:600- 1000; MOST common syndrome in man


clinical feature of down syndrome at birth

- tongue protrudes, more due to tone than size
- hyperflexibility of joints
Typical facies
- microcephaly
- up slanting palpebral fissures
- inner epicanthal folds
Typical features of hands and feet
- transverse palmar crease
- sandal toe / flat feet


hidden features of down syndrome

40% have congenital heart disease (endocardial cushion defect, VSD)

Skeletal abnormalities (atlanto-axial subluxation, hip problems)

66% hearing loss (at birth or later)


White blood cell abnormalities (susceptibility to infection
Increased risk of leukemia)


diagnosis of down syndrome

Prenatal "quad screen":
- dec. alpha-fetoprotein (AFP)
- Inc. Human gonadotropin (hCG)
- Dec. Unconjugated estriol (uE3)
- Inc. Inhibin A
NOTE: detects 85%

Prenatal ultrasound:
- increased nuchal width

Amniocentesis for karyotyping:
- encouraged in moms over 35

Genetic testing:
1. FISH probe – looking specifically for chromosome 21; fast results
- however, does not tell you what type which is important for additional children from mom (Robertsonian translocation – much higher likelyhood in next sibling); also does not provide mosaic

2. Karyotype (from tissue culture) – this looks for everything but takes a week


"Quad" Screen

4 things tested: AFP, HCG, uE3, Inhibin

Neural tube defect (NTD):
-AFP up (rest normal)

Trisomy 21:
- AFP and uE3 down
- HCG and inhibit up

Trisomy 18
- all down


Turner's Syndrome

chromosomal abnormality
- XO - females only!

Clinical features:
- Short stature
- Lack of secondary sex characteristics
- Shield chest / Webbed neck
- Wide carrying angle of arms
- Normal intellect (problems with math)

Unseen problems:
- Cardiac disease (coarctation of aorta, aortic valve anomalies)
- Infertility/lack of sexual development
- Renal disease


Prader-Willi Syndrome

chromosomal abnormality
- deletion of a portion of a chromosome

Clinical presentation at birth:
- Severe hypotonia
- Poor feeding
- Micropenis
- Small hands and feet

Symptoms later:
- Short stature
- Mild to moderate mental retardation
- Food related behavior issues



Example of a single gene mutation
Passed on in an autosomal dominant fashion

What you see (midget)
Large head
Short stature
Bony abnormalities: curvatures of spine, short hands, abnormally formed pelvis

Normal intelligence and fertility


autosomal recessive disorders

Occur if both parents, though clinically normal, carry the same gene

When combined present with the disease in question

Increased likelihood if parents are related or in small, closed communities

Many diseases, including sickle cell disease, cystic fibrosis, Crigler-Naajar


X-linked disease

Gene for trait is carried by mother on the X chromosome
- expressed in male children only
- classic examples are hemophilia, Duchenne’s muscular dystrophy and red-green color-blindness



agent or factor that causes a malformation
- thalidomide (drug for morning sickness): babies with flipper limbs

- fetal alcohol syndrome: typical facies (smooth philtrum), microcephaly; developmental delay, behavior problems


Viruses - Main Issues

Important cause of prenatal and neonatal morbidity and mortality

Frequency of viral infections in fetus and newborn may be as much as 6 to 8% (compared to 1 to 2% for bacterial disease)

More likely than bacteria to cross the placenta and cause disease in fetus


congenital infection

acquired in utero

can result in malformations, fetal loss, prematurity, IUGR, neurological sequellae


natal infections

acquired at the time of birth
- infection did not cross membranes or placenta

wide variety of outcomes from asymptomatic disease to chronic disease or death


postnatal infection

acquired during the neonatal period


vertical transmission

the transfer of a disease, condition, or trait from one generation to the next either genetically or congenitally

Eg. Passing on an inherited trait (sickle cell disease)
Eg. Passing on an infection (early onset GBS infection) (either during pregnancy or during delivery)


horizontal transmission

the spread of an infectious agent from one individual to another, usually through contact with bodily excretions or fluids, such as sputum or blood, that contain the agent.

Eg. Spreading the common cold or spreading avian flu
Eg. Infant developing late onset GBS sepsis from his mother.


effect of material immune response on fetus

When mother is infected - immune system first makes IgM
- large molecule
- does not cross the placenta
- spike in IgM indicates current infection

As the immune response continues, maternal antibody is primarily IgG
- small molecule
- freely crosses placenta (especially during the third trimester)
- indicates convalescent of past infection

Term baby is essentially born with a copy of his mom’s IgG which persists for 4 to 6 mos
- why premature babies are more prone to infection


effect of viral infection varies with trimester of pregnancy

1st trimester: viral infections act as teratogens (period of organogenesis)

2nd trimester: baby gets infection and immunity

3rd trimester: baby can pick up infection without antibody (if come to delivery)


congenital viral infections - what happens when mom gets virus while pregnant?

most maternal infection are self-limiting and have no effect on fetus (Influenza, RSV, rhinovirus, Norwalk)

maternal viremia (virus in blood) - usually placenta protects fetus

some viruses cross placenta and cause:
- replication and infection of placenta
- damage to vessels of placenta so it is “leaky”
- infection of maternal leukocytes which sneak through inflamed placenta


common viral pathogens - TORCH

Other- primarily syphilis
Rubella- aka “German measles”
3 H's:
- Herpes
- Hepatitis B & C

Note: There is no such thing as a “Torch Titer”- provider needs to consider each possible infection and order specific antibody titers separately


toxoplasmosis - not a virus at all

Caused by an intracellular protozoan parasite

Most natural infections are acquired by ingesting undercooked meat or food contaminated by cat feces

Cat - definitive host

Severity of fetal disease is inversely proportional to gestational age
- 1st trimester: fetal death or baby with severe neurologic (calcified lesions in brain) or eye disease (calcifications on retina); also see ASYMMETRIC IUGR
- 2nd or 3rd: mild or subclinical disease


syphilis ("other") - not a virus at all

Sexually transmitted infection caused by Treponema pallidum

In adult, 4 stages:
- Primary: ulcerative lesion on genitals, non-painful and easily missed
- Secondary: systemic illness with fever, sore throat, headache and diffuse rash
- Latent: treponemes present but without symptoms
- Tertiary syphilisL neurologic and cardiac symtoms

more recent mom’s infection, the more likely the transmission to fetus; (i.e. 100% transmission in primary and secondary syphilis infection;
after secondary, i.e. during latent phase, infection rate drops)

Baby more likely infected if mom is infected during second or third trimester
- if baby gets in 1st trimester - full blown congenital syphilis (bad!)


syphilis - congenital infection

May result in stillbirth, hydrops fetalis, prematurity, IUGR, microcephaly, blistering rash

Or, baby may be asymptomatic at birth, develop characteristic symptoms in first 3 months:
- Hepatomegaly, splenomagaly, skeletal & dental abnormalities ()Hutchinson teeth), anemia, snuffles, saddle nose


Untreated, will develop neurosyphilis and bony changes


congenital syphilis

we do not see a lot of it here, but screen for it since it can be devastating and is preventable with PENICILLIN



Classic example of viral teratogen if infection occurs during the first 8 weeks of pregnancy

Symptoms: heart defects, cataracts, cognitive impairment, hearing loss, IUGR, blueberry muffin rash
- these are malformations (occur early)

Infection in third trimester: causes myocarditis (pathology of an already formed structure - deformation)

NOTE: there is an effective vaccine - so rare in US


congenital rubella - familiar rash

“Blueberry muffin rash” - consists of raised purplish bumps on the skin which reflect extramedulary hematopoiesis (RBC formation on the skin; outside of the bone marrow)

NOTE: also see with congenital CMV


CMV (cytomegalovirus)

MOST common cause of intrauterine infection in US (1% of all neonates infected)

Mom is asymptomatic, as are most babes

Early childhood infections are common and mild - often spread in daycare settings (25% of population has CMV antibody)

NOTE (1st trimester): 20-30% risk of fetal loss if occurs during first trimester; other bad effects


congenital CMV - symptoms at birth

Symptoms are most severe when they occur in first trimester:

- Prematurity
- Corioretinopathy
- Hepatic failure
- Microcephaly (i.e., OFC (head circumference) less than 5%tile)

"Blueberry muffin” appearance (petechiae & purpura)


blueberry muffin rash

Usually on trunk

Can be seen in rubella, CMV, congenital leukemia, neuroblasoma, etc.

- any intrauterine condition in which there is severe anemia

Magenta coloured papulonodular lesions suggestive of dermal hematopoiesis (RBC formation)


CMV - long term symptoms

MOST COMMON cause of congenitally-acquired sensoirneural hearing loss

Intracranial calcifications
Cerebral palsy
Cognitive impairment
Dental defects


CMV diagnosis

Urine specimen is best source for culture (though virus present in other body fluids also)


viral infections acquired during time of delivery: all of the H's

Hepatitis B
Hepatitis C
Herpes Simplex virus


HIV (Human Immunodeficiency Virus)

virus responsible for AIDS

Routine testing for HIV is recommended for all pregnant women

RISK OF TRANSMISSION of HIV from untreated mom to baby is 25%

- antiretroviral drugs (ATZ) (not teratogenic to the developing fetus)


HIV positive mom - how to treat

Mom with low titers (good t cell count):
- can delivery vaginally; begin AZT tx to baby
- reduced risk of HIV to baby down to 1%

Mom with high titers:
- vaginal v. c-section
AZT during labor and delivery
- baby gets multi-drug therapy
- 2% likelihood of infection in newborn

CONTACT CHIP program - follow mom and baby once born


HIV and breastfeeding

Depends on where in world (HIV can pass through breast milk and cause newborn infection.)

In “first world,” better to use formula

In developing world, particularly Africa, better to continue to breast feed (likelihood of newborn death due to diarrheal illness outweighs death due to HIV)


HBV (hepatitis B)

Picked up at time of delivery; does not dross placenta

Babies present with a variety of signs and symptoms, including:
- Clinical hepatitis with jaundice
- Fatal fulminant hepatitis
- Chronic hepatitis - Predisposition for hepatocellular CA (carcinoma).

Note: More than 90% of perinatally infected infants will develop chronic infection whereas only approximately 10% of infected adults do


HBV positive mom - management

All pregnant women are screened for HBV as part of prenatal labs

- Immediate bath
- Hep B vaccine
- HBIG (Hepatitis B Immune Globulin)

note: Breastfeeding poses no threat to baby -BREASTFEED

95% EFFECTIVE in preventing HBV infection in baby!


HCV - hepatitis C

Not part of routine prenatal screening

Signs and symptoms of hep C virus are indistinguishable from Hep B and Hep A

Acute disease is mild; children have low chance of chronic disease (opposite Hep B - HBV)

management for baby of HCV positive mom:
- test bay at 18 months (after maternal antibody gone)



herpes simplex virus (HSV)

HSV-2 is more commonly the cause of neonatal infection than HSV-1

most often transmitted during birth through an infected maternal genital tract

Risk to babe
- 33-50% if mom’s primary infection
- 5% if result of reactivation shedding

Neonatal herpes infections are severe
- High morbidity and mortality rates

Consider diagnosis in neonates with fever, irritability, abnormal CSF findings and seizures


HSV - manifestations

- 1/3 disseminated disease involving multiple organs (sepsis): presents in 1st week

note: vesicular rash will kill - must catch!

- 1/3 localized CNS disease: presents in 2nd or 3rd week

- 1/3 localized to skin, eyes and mouth: presents in 2nd week


HSV at delivery

active lesions: many OBs elect C-section

AVOID USING FETAL SCALP ELECTRODE (common site for introduction of infection)



Care of newborn at risk for HSV (due to maternal lesions)


cultures from many areas

- controversial if asymptomatic
- ACYCLOVIR if has any symptoms


Parvovirus B19 (aka Fifth disease)

Causes mild, self-limited illness with typical rash in young children
- “slapped cheeks”
- lacy rash on extensor surfaces of joints

Contagious before rash appears; typically a preschool disease

Like many viruses, causes bone marrow suppression


varicella (aka chicken pox)

Caused by Herpes Varicella Zoster virus

Like all herpesviruses, characterized by an acute infection with recurrences (shingles)

Initial infection is “chicken pox”

Lesions at different stages (unlike small pox)

NOTE: vaccine now exists (1995)


effect of varicella virus on fetus and newborn

First trimester: serious but not common (limb atrophy, CNS, eye manifestations)

Second trimester: unapparent infection

Varicella infection occurring 5 days before to 2 days after birth: can be fatal since no IgG

More then 5 days before delivery in 3rd trimester: no problem b/c maternal antibody



The presence of bacteria in the bloodstream

can be a transient, self-limited phenomenon, cleared by immune system

can “seed” other sites such as bone, lung, meninges

can progress to sepsis



Bacteremia coupled with inadequate perfusion and end-organ involvement
- decreased blood flow causing damage to important organs


Two types of neonatal sepsis

Early-onset sepsis (EOS): Sepsis which occurs in a neonate within the first 3 days of life
- vertical transmission

Late-onset sepsis (LOS): Sepsis which occurs after the first 3 days until 2 to 3 months of life (definitions vary)
- horizontal transmission


signs and symptoms of sepsis - can be difficult in babies

Temperature elevated or depressed (normal range is 36.5 to 37.5)

Tachypnea (RR >60/min BPM)

Signs of respiratory distress:
- Poor color
- Decreased responsiveness
- Poor feeding
- Irritability or sleepiness


effect of sepsis (EOS and LOS) on neonates

EOS neonatal sepsis has a mortality rate of approximately 15%
- Higher mortality in pre-term babies

LOS more likely to be complicated by meningitis with its attendant morbidity


bacterial organisms that cause sepsis

1. Group B Strep
2. E. coli (#1 in preterm babies)
3. Other strep species (most commonly Pneumococcus)
4. Enterococcus
5. Staph
6. Listeria
7. Klebsiella

NOTE: these organisms all come from vagina or GI tract (aka rectum)


how does transmission of bacteria from mom to baby occur

During labor membranes rupture or become leaky

Organisms can ascend from the birth canal (vagina)

Fluid becomes infected, fetus inhales or swallows it and also becomes infected


Risk factors for early onset sepsis (EOS)

Major risk factors:
Maternal Group B Strep carriage
Prolonged rupture of the membranes (> 18 hours)



Maternal temperature during labor > 38.o C or 100.4 F

At least 2 other features:
1. maternal leukocytosis: WBC > 15,000 in blood
2. maternal tachycardia: > 100 beats/min
3. fetal tachycardia- baseline: > 160 beats/min
4. uterine tenderness
5. foul smelling amniotic fluid


Group B Strep (GBS)

- Carrier state in mother (part of normal flora)
- Not sexually transmitted
- 50% vertical transmission
- 1% of babies born to mothers with GBS will develop early onset sepsis

Note: Late onset disease is horizontal transmission


history of GBS in USA

There as been a 87% reduction from the 1990’s rate!
- due to doing GBS cultures on moms between 35 and 37
- treating GBS positive moms with Penicillin when in labor


risk factors for GBS

Previous child who had early-onset GBS sepsis

GBS bactiuria during current pregnancy

Maternal fever/chorio
Preterm labor

Note: based on 1996 criteria for Penicillin; still use if do not have GBS culture results


PROM - prolonged rupture of membranes

> 18 hours

The longer the membranes are ruptured, the higher the likelihood of ascending infection


prematurity (gestational age

Very high risk for EOS

Higher risk for mortality associated with sepsis

Possibly premature labor was prompted by brewing infection

Premature babies are more vulnerable because of less adequate immune system


diagnosing sepsis - difficult!

Amer. Academy of Pediatrics (AAP): . available DIAGNOSTIC TESTING IS NOT HELPFUL in deciding which neonate requires empirical antimicrobial therapy but can assist with the decision to discontinue treatment

The only truly specific laboratory test in the workup of neonatal sepsis is the BLOOD CULTURE. If it is positive we can say that the baby is bacteremic
- coupled with a suggestive history and physical exam, the diagnosis of sepsis can be made.


septic workup - tests to consider

Blood culture (mandatory)

Chest X-ray (almost always done)

Lumbar puncture, aka “spinal tap” (varies)

Complete blood count (CBC)

C-reactive protein

NOTE: Urine culture is not indicated in septic workup of a newborn in the first 3 days of life (include in workup of late onset sepsis)


septic workup - blood culture

In a newborn, 1.0-2.0 ml of blood is inoculated into culture

Almost ALL pathogens will grow within 48hrs

Sensitivity is 50- 80%

NOTE: Positive blood culture is DIAGNOSTIC of neonatal sepsis but negative culture does NOT rule it out


septic workup - chest x-ray

Include whenever baby has significant respiratory symptoms.

Recall that respiratory distress is one of the most common signs of sepsis


septic workup - spinal tap

Meningitis is uncommon but devastating

Weigh risks and benefits of the spinal tap since it is invasive and stressful

Best performed before starting antibiotics, can be delayed if baby is unstable

When to do LP with CSF culture:
- symptoms of meningitis (lethargy, abnormal tone, excessive irritability, bulging fontanel, or septic shock)
- symptomatic babies in whom sepsis is the leading diagnosis (that is, not MAS, simple RDS)
- all babies with positive blood cultures


septic workup - CBC

Can be a clue, not diagnostic

There are several features to consider:
- total WBC count
- absolute neutrophil count
- immature/total ratio (I/T) - neutrophils
- immature leukocyte count

NOTE: Normal ranges are broad and depend upon timing (best time is at least 6 hours after birth)


absolute neutrophil count

Note: neutrophils are the cell line most responsible for managing bacterial infections

calculate by multiplying the total percentage of all neutrophils x total white blood cell count

total neutrophils = polys + bands+ myelocytes + metamyelocytes

Abnormal if less than 1750 - a low neutrophil count reflects an overwhelmed immune system


septic workup - C-reactive protein

CRP is a protein synthesized by the liver in response to, and as part of, the inflammatory response

Poor specificity: other perinatal conditions confound (asphyxia, fetal distress, MAS, etc.)


current recommendations - GBS and sepsis prevention

prophylaxis against GBS: Penicillin during labor (GBS is “exquisitely sensitive” to Penicillin)

Ideally, mother needs 2 doses of PCN prior to delivery
- acceptable: at least one dose, at least 4 hours prior to delivery

If adequate prophylaxis, eliminates risk of EOS GBS sepsis, can go home in 24 hours

If inadequate, needs a 48 hours observation period to watch for evidence of EOS.


current recommendations - chorio and sepsis prevention

Mothers who have fever or signs of chorio are treated with antibiotics during labor to prevent sepsis in newborn

Baby must be observed for 48 hours after birth


treatment for newborns with sepsis

IV antibiotics
- Ampicillin & Gentamicin

10 full days for sepsis
2 weeks if meningitis

NOTE: The trick is deciding who truly has sepsis and who is at risk but not infected


actions when sepsis is suspected in newborn - current recommendations

AAP and CDC Recommend:
- babies born to mothers with diagnosis of chorio should have a sepsis workup
- i.v. antibiotics (Ampicillin and Gentamicin) for 48 hours until cultures are negative

NOTE: If you follow this closely, it means that 10 to 15% of newborns will have blood drawn and IV antibiotics


actions when sepsis is suspected in newborn - risk-based options

must look at whole picture to prevent overuse of antibiotics and stress to neonate!

Consider gestational age (34 to 42 weeks)
Highest maternal temperature during labor
Length of time membranes were ruptured
GBS carrier status
Type of intrapartum antibiotics used

Risk-based analysis: Kaiser Sepsis Risk Calculator


gastrointestinal (GI) problems in newborn - general principles

All significant pathology of GI tract in newborn results in obstruction (block in passage of material along tract)

Presentation of pathology depends upon where the obstruction occurs

When intervention is needed, immediate steps are all the same (can intervene b/f know cause)

Resolution of significant pathology nearly always requires surgery


4 types of obstruction

Atresia: non-formation resulting in discontinuous lumen and complete obstruction

Stenosis: formation with restriction; i.e., limitation of diameter of lumen with partial obstruction

Blockage: contents of lumen harden to cause obstruction or external compression of tract occurs

Dysmotility: peristalsis, the rhythmic contraction of tract is abnormal leading to functional obstruction


symptoms of GI problems depends on location of problem

upper tract: from mouth to end of duodenum
- presents with vomiting
- closer to mouth, sooner the emesis
- belly will be flat or scaphoid (concave)

lower tract: duodenum to anus
- presents with decreased or no stooling
- belly will be distended


radiology of GI system

Can help define location of problem:
- Plain x-ray
- Ultrasound
- Contrast studies

Air is present in the stomach immediately after birth; by 24 hours of life air should appear in the rectum.

Gasless abdomen: decreased swallowing, decreased GI motility, vomiting or gastric decompression.

“Air-fluid levels” reflect decrease in peristalsis


acute abdomen

contents of bowel got outside intestine as a result of perforation (peritonitis - inflammation of peritoneum)

- abdominal distention
- tenderness (tenderness is elicited, versus pain)
- tympanic (percussion)

NOTE: medical / surgical emergency


GI problems - immediate interventions

All same no matter what the problem is:

1. Make baby N.P.O. (nothing by mouth) until you have identified problem and have decided upon intervention

2. Place nasogastric tube to decompress stomach of air and stomach contents (oral gastric tube more likely in newborns since nose so small)

3. Start I.V. to provide fluid maintenance

4. Call surgeons

NOTE: prophylactic antibiotics only if fear necrosis due to lack of blood supply (bowel rotation)


gastroesophageal reflux

clinically significant conditions that occurs in newborns due to insufficient tone of the gastroesophageal sphincter (GERD)

clinically significant = baby can't grow since spit everything up; won't eat due to pain (arch back and pull away)

mild form = wet burp; pain

- feed small amounts
- positioning during feeding
- medications to prevent pain (H2 blockers)
- surgery (fundoplication - wrap funds around duodenum)


esophageal atresia

Esophagus is discontinuous and there is communication between GI and respirtory tracts (malformation that occurs during organogenesis)

Usually accompanied by tracheoesophageal fistula (TEF)

Note: present few hours after birth (early)

MOST COMMON malformation of esophagus


esophageal atresia - types and signs / symptoms

Presenting signs:
- Drooling
- Immediate vomiting after eating
- Coughing
- Abdomen may be distended or scaphoid

30-40% have associated anomalies, especially VACTERL; can have history of polyhydramnios

Type III B is most common: esophagus comes out of trachea (slide 16)
- belly is distended since air gets into belly (would never want to resuscitate if you knew baby had this since you would blow up stomach)


VACTERL association

Formerly known as VATER

Present in 25- 30% of children with EA/TEF

Vertebral anomalies
Imperforate Anus
Cardiac defects (PDA,ASD,VSD)
Tracheoesophageal fistula
Renal anomalies
Limb anomalies (most often of radius)


pyloric stenosis

hypertrophy of muscular layer of pyloric channel; pyloric sphincter has too much tone and contents cannot pass

Does not present right away (2 days - 2 months) - worsens as baby grows and eats more

- Seems hungry
- Vomits - FORCEFUL (few minutes after each feeding)
- Gets worse as days pass
- Often presents with dehydration
- Normal stool
- No fever
- No ill contacts

NOTE: would think gastroenteritis (most common cause of vomiting)


pyloric stenosis - diagnosis and treatment

diagnosis: abdominal US

- Very minor surgery: “Pyloromyotomy” (consists of incising the hypertrophic muscle from the outside to essentially loosen it up)


bilious vomiting in newborn - significance

Recall: common bile duct enters the intestine at the ampulla of Vater, located 1/3 of the way along the duodenum.

Bilious vomiting implies obstruction DISTAL to the ampulla.

Usual spitting up or feeding intolerance is not bilious; therefore, consider pathologic until proven otherwise

In newborn, – bilious vomiting is considered an EMERGENCY until proven otherwise


duodenal obstruction

can be: blockage, stenosis, or atresia – don’t need to find out right away; can be partial or complete

Malformation: caused by incomplete re-canalization of gut during organogenesis (making inner tube of lumen forms as solid tube)
- atresia:complete obstruction of lumen
- stenosis: narrowing of the lumen

NOTE: 30% of babes with duodenal obstruction have DS and other anomalies

Presents with:
- vomiting: location will determine if bilious
- abdominal distention: may be present soon after birth (peaks at 24 to 48 hrs)

May pass meconium


duodenal obstruction - prenatal clues

Polyhydramnios (excess amniotic fluid) since baby cannot swallow as much

SGA (small gestational age)

Often, preterm

Prenatal ultrasound shows “double bubble” (stomach and duodenom)


duodenal atresia - evaluation and management

Abdomen is scaphoid or distended

Obtain abdominal film
- Newborn xray may show “double bubble” (stomach is first; duodenum is second since it swells prior to atresia)

- Look for dilated stomach, distal gas (if distal gas present, stenosis rather than atresia)

Can also be diagnosed with ultrasound

Management: usual preliminary steps followed by surgical correction


midgut (jejunum or ileum) obstruction

Can be atresia, stenosis, or malrotation:

Atresia: 50% of all atresias occur in jejunum or ileum


Malrotation/Midgut Volvulus:
- mesenteric attachments are posterior only
- midgut is free to move
- duodenum and proximal colon are fixed


Malrotation/Midgut Volvulus

During fetal life, intestines normally herniate into the umbilical cord and return to abdomen

Abnormal rotation results in abnormal position, known as malrotation

In addition to obstruction, malrotation can cause a volvulus which compromises vascular system, resulting in necrosis, peritonitis, sepsis and shock - THIS IS A SURGICAL EMERGENCY
- necrotic intestines allow contents to spill out, causing acute abdomen


Malrotation/Midgut Volvulus - presentation, diagnosis, treatment

Presentation: apparently well child who presents with sudden onset of bilious vomiting
- may occur at any time postnatally but 80% occur in neonatal period (first month)
- initially intermittent
- abdominal distention

NOTE: ALL BILIOUS vomiting in the newborn is Volvulus until proven otherwise!
- This is a surgical EMERGENCY!

Diagnosis: definitive study uses contrast

Treatment: surgical ("Ladd procedure"_


meconium ileus

peristalsis of intestine stops; viscous, inspissated meconium obstructs the mid-ileum
- baby has not passed meconium (try suppository first to see if it's just meconium plug)
- abdominal distention at or after birth
- associated with Cystic Fibrosis

Diagnosis and Treatment:
- gastrograffin enema
- surgical clean out

Note: untreated can lead to rupture of bowel, acute abdomen, shock, death (meconium ileum with perforation)


Hirschprung's Disease

Congenital absence of nervous plexuses of the colon

Peristalsis is abnormal in affected segment (skinny), causes functional obstruction with dilated bowel proximally (toxic megacolon)

-constipation, delayed stooling, meconium plug (2 DOL)
- abdominal distention
- can have vomiting after meals
- congenital but rarely diagnosed in neonatal period (diagnosed by 4 months)

- 75- 80% male
- accounts for 25% of all congenital GI obstruct

Treatment and Repair:
- initial enemas to promote stooling
- Laparoscopic or open “pull-through” of colon containing ganglion cells to the anal verge


imperforate anus

no anus or abnormal
- 75% have fistula to urethra, vagina, or perineum and may pass meconium

Associated with VACTERL, chromosomal, cardiac, and CNS anomalies.

Treated surgically (use temporary measures until baby is a bit older), long term outcome good


Managing Newborns with Suspected Intestinal Obstruction - Review

1. Make N.P.O.
2. Decompress obstructed area with nasogastric suction
3. Start intravenous fluids
4. Begin radiologic workup
5. Call the surgeons
6. Consider workup for other associated problems
7. Consider starting antibiotics


use of antibiotics for suspected intestinal obstruction

Although the causes of intestinal obstruction are mechanical rather than infectious, it is often wise to begin antibiotics prophylactically.

Pressure changes and vascular compromise can result in perforation of bowel, spilling contents into peritoneal cavity.

Acute abdomen: Peritonitis, infection of the peritoneal cavity, a severe infection which results in sepsis and shock.

Think about specific situation:
- Volvulus: definitely begin antibiotics
- duodenal atresia and baby is doing fine: probably no antibiotics


ventral wall defects

Present at birth

Intestine present outside abdominal wall

Risks include motility problems, fluid loss, infection

Immediate response:
Cover with saran wrap to prevent fluid losses
Start I.V.
Start antibiotics
Surgical intervention

Two types:




Failure of intestine to fully return to abdomen during fetal life

ALWAYS associated with MALROTATION




Caused by vascular accident during fetal life

Dysmotility because has a thick peel on surface as result of contact with amniotic fluid
- worse then omphalacele


why do newborns become jaundiced - physiology

Jaundice occurs when an infant is hyperbilirubinemic.
- Bilirubin is a by-product of RBC breakdown (after 120 days, RBCs breakdown and release bili which is excreted in stool when healthy)
- in utero, baby is hypoxic which triggers large production of RBCs (hematocrit is higher in newborn v. adult); upon birth this large pool of RBCs is broken down causing jaundice (can be physiologic or pathologic)

- When not healthy, bilirubin pigments build up in liver and are deposited in the skin and mucous membranes, causing the classic yellow or jaundiced appearance of the skin


jaundice - initial presentation and distribution

Jaundice in the newborn is a generally mild, transient physiologic increase in bilirubin occurring in a healthy, full-term baby

Jaundice first becomes visible in the face and forehead and progresses caudally to the trunk and extremities
- tell newborn is jaundice by blanching skin and looking for yellow tone


production of bilirubin - general steps

- RBCs broken down; heme is converted to uncongugated bilirubin
- unconjugated bili released into serous where is is tightly (but reversibly) bound to albumin
- unconjugated bili-albumin complex carried to liver
- in liver, bili-albumin complex converted into bilt salt or conjugated bilirubin (enzyme = glucuronic transferase)
- conjugated bili is pumped out of hepatocytes into canalicular (bile duct) system
- either excreted in stool or deconjugated and reabsorbed back into enterohepatic circulation

NOTE: everything before liver is unconjugated and everything after is conjugated (can be released)


unconjugated bilirubin

Exists in this form before the liver; the fat soluble product of hemoglobin metabolism
NOTE: prehepatic dysfunction can cause this type of hyperbilirubinemia

Binds tightly and readily to albumin in serum; neither is changed by the union

Known as “free bilirubin” regardless of whether it is bound to albumin or not

Unconjugated = Indirect

NOTE: most bill exists in this form in infants


conjugated bilirubin

Exists in this form after liver; salts of glucuronic or sulfonic acids; water soluble

Conjugated = Direct

Incorporated in to bile acids which act as a detergent to help in digestion of fats.

In a normal newborn the direct bilirubin should be be


bilirubin laboratory results (serum)

Total bili: measures all bilirubin fractions in serum

Direct bili measures 90% of conjugated bili.

Ordering “fractionated” bili will get you total and direct values.

Indirect is a calculated value: (total - direct = indirect)

NOTE: bilirubin should be mostly unconjugated (indirect) in serum; indirect should be 90% or greater!


unconjugated hyperbilirubinemia - causes

too much unconjugated (indirect) bilirubin

Hemolytic (due to rupture of RBCs):
- Physiologic
- Pathologic
- Immune mediated
- Certain enzyme defects
- Pool of blood outside vascular system


Associated with breastfeeding:
- breast feeding jaundice
- breast milk jaundice

Defects in conjugation step:
- Crigler-Najjar
- Gilbert’s
- Asian descent


hemolytic hyperbilirubinemia (unconjugated)

physiologic: natural response to increased production of RBCs in utero - jaundice occurs in 1st 2 hours and peaks 3-5 days

Pathologic: maternal antibody (IgG) crosses the placenta to attack fetal RBCs
due to blood type; jaundice in first few days
- mom O and baby A, B, or AB
- mom Rh- and bbay Rh+ (rho-gam prevents - anti IgG)

Breakdown of extravascular blood: blood usually a result of bruising / cephalohematoma due to birth trauma (blood trapped b/t periosteum and skull)

G-6-PD deficiency: Sex-linked disorder of cell membranes which makes them vulnerable to hemolysis


prematurity hyperbilirubinemia (unconjugated)

80% of premature infants become jaundiced

Premature infants conjugate more slowly (liver is not working well yet)
- higher risk for BIND at lower levels of bilirubin
- leaky blood-brain barriers


hyperbilirubinemia associated with breastfeeding (unconjugated)

1. Breastfeeding jaundice
- caused by inadequate oral intake
- increases enterohepatic circulation
- essentially, dehydration
- occurs on days 2-5

Baby’s hydration is the urgent problem

Mother needs breastfeeding support
- consider supplementation with pumped milk or formula

2. Breastmilk jaundice
- Begins day 4; can peak weeks 2 to 4
- Persists up to 3 months
- Not all breastfed babies get it
- totally benign (don’t interrupt nursing)

Etiology unclear


hyperbilirubinemia associated with defect in conjugation (unconjugated)

Gilbert's: defect in glucuronyl transferase
- typically, mild jaundice after puberty
- autosomal dominant: family history (parent turn yellow with stress)

Crigler-Najjar Syndrome: severe, often lethal form of hyperbili.
- clinically looks like kernicterus
- autosomal recessive; ccurs in one in one million live births
- virtual absence of glucuronyl transferase enzyme

Two Types (I, II).
I: requires lifelong PTX to avoid BIND and liver transplantation
II: treatable with Phenobarbital.



Unconjugated hyperbilirubinemia

Caused by defect in glucuronyl transferase
- typically, mild jaundice after puberty
- autosomal dominant: family history (parent turn yellow with stress)


Crigler-Najjar Syndrome

Unconjugated hyperbilirubinemia

Severe, often lethal form of hyperbili.
- clinically looks like kernicterus
- autosomal recessive; ccurs in one in one million live births
- virtual absence of glucuronyl transferase enzyme

Two Types (I, II).
I: requires lifelong PTX to avoid BIND and liver transplantation
II: treatable with Phenobarbital.


causes of conjugated hyperbilirubinemia


Inborn errors of Metabolism

Biliary atresia


infection hepatitis causing hyperbilirubinemia (conjugated)

- infectious agent (Hep B, Rubella, CMV, toxoplasmosis) attaks canicular cells and makes them leaky
- conjugated / direct bilirubin is dumped into system
- can cause blueberry muffin rash


inborn errors of metabolisms causing hyperbilirubinemia (conjugated)

Galactosemia: inborn error of galactose metabolism

other inborn errors of metabolism can also cause cholestatic jaundice
- Cholestatic jaundice implies that conjugated bilirubin flow is obstructed


biliary atresia causing hyperbilirubinemia (conjugated)

Congenital absence of all or part of the biliary tree (ducts that drain bile from liver)
- etiology is uncertain, may be viral
- presents weeks 2 to 8 after birth
- light stools (clay color), dark urine, jaundice, weight loss and irritability

Initially treated with Kasai procedure (intestine attached to liver to bypass biliary tree)
- ultimately need liver transplant


Management of jaundice - History and Physical

- MOC’s blood type / Rh
- family history of hemolytic disease?
- maternal history of infections during pregnancy (Hep B status)?
- Prematurity?
- Medications?
- Baby’s diet history and stooling patterns

Physical findings consistent with intrauterine infections?
- Hepato- or splenomegaly?
- Hydration status


Management of jaundice - Bilirubin level

transcutaneous or serum levels

In the first week of life, if there is no cause to suspect hepatitis, obtain a transcutaneous bilirubin level

Indications for a bilirubin level:

Baby appears jaundiced
- very subjective

Compelling risk factors for hyperbilirubinemia:
- ABO or rh “set-up" (risk for immune-mediated hemolysis)
- family history to suggest genetic causes
- history of, or signs which suggest viral infection
- prematurity
- Asian


transcutaneous bilirubin monitor

Inexpensive, non-invasive

Good screening tool however… no good studies to help you interpret values

Requires developing your own guidelines (vary)

Generally, higher levels) of bilirubin are "allowed" over time (not as much concern for higher at 36 / 48 /72 hours of life)

Level will determine if serum bilirubin level is needed - see NOMOGRAM
- value in high intermediate and above = serum


serum bilirubin values - managment

High risk zone: begin phototherapy

High intermediate:
recheck 6-12 hrs +/- phototherapy

Low intermediate: recheck based on clinical progress

Low risk: no need to follow up


phototherapy (PTX) - treatment for unconjugated hyperbilirubemia

Blue light changes molecular structure of bilirubin so it is less tightly bound to albumin and more water soluble
- can be eliminated from the body via the kidneys without conjugation

can be under light (on back with sunglasses) or with light blanket

- se of PTX in conjugated hyperbili results in “bronze baby”, an unappealing discoloration of skin
- consider fractionated bili prior to starting light therapy if there is doubt


BIND (Bilirubin Induced Neurologic Dysfunction)

Why we watch jaundice carefully and treat!

Associated with UNCONJUGATED hyperbilirubemia

Acute manifestations: acute bilirubin encephalopathy (ABE)

Chronic and permanent sequelae: Kernicterus



Form of brain damage associated with greatly elevated unconjugated bili; can be prevented with early tx!

-abnormalities of tone, high pitched cry, arching of back
- smart baby trapped in spastic body

Pathology: Bilirubin staining of basal ganglia and hippocampus (leaky BBB)
- occurred in babes with erythroblastosis fetalis and has become rare since the advent of rho-gam


newborn skin at birth - what we may see (normal)




thick, pasty covering that protects newborn



when normal: non-blanching lesions secondary to birth trauma or vigorous resuscitation (scalp, rips, and back)

When abnormal: sign of sepsis in infants ("blueberry muffin rash - systemic"
- be concerned when mom has hx of low platelets or infection risk



downy hair - presents to varying degrees at birth (on shoulder, etc.)


mottling (curtis marmorata)

Lace-like pattern of dusky erythema over trunk and extremities.
- Normal in newborns who are cold (disappears on re-warming)
- Can be a sign of poor perfusion in illness


Cutis marmorata telangiectatica congenita

Rare congenital vascular malformation.
- Usually presents on one limb.
- Does not go away with heat
- Associated with underlying muscular defects (50%).


transient skin lesions of newborn (birth - 10 days)

Erythema Toxicum
Sebaceous Gland Hyperplasia
Pustular Melanosis
Normal Peeling
Sucking Blisters


erythema toxicum

White to yellow papule on a blotchy erythematous base.
- usually start on DOL 1 or 2.
- contain eosinophils - but etiology poorly understood.
- come and go over first 10 days of life (chameleon rash)
- located everywhere except palms and soles.



Herpes Simplex Virus (HSV)

Neonatal emergency:
- 1% chance of women with a hx of HSV 2 to be shedding virus at time of delivery
- In babies born with neonatal infection, only 30% have a hx of active lesions
- many mom’s don’t even have an active lesion
- 50% risk of transmission if Mom has a primary infection



Keratin filled epithelial cysts.
- often mistaken for neonatal acne which does not appear until 2 weeks of life.
- no inflammatory component
- spontaneously resolve


sebaceous gland hyperplasia

More yellow than milia.
- caused by maternal androgen exposure.
- spontaneously resolve


transient pustular melanosis

Fragile pustular rash that begins in-utero.
- when pustules break they leave behind a white collarette with a central hyper-pigmented macule.
- no inflammatory component.
- pustules usually removed during resuscitation or bath.


peeling of skin and sicking blister

normal findings; no lotion of oils if have cracks or fissures - will absorb into babies blood stream
NOTE: yellow stained peeled skin - sign of meconium


harlequin phenomenon

Thought to be caused by an immature hypothalmus.

One side red and one side white (symmetric) – changes with position and only lasts temporarily



represent an area of excess of one or more of the normal components of skin per unit areas.
- blood vessels, pigment cells, sebaceous glands, epidermis…


mongolian spots

pigmented lesions; blue-black macules commonly located over lumbosacral area.
- congenital Dermal Melanocytosis
- most common in Black, Asian and Hispanic infants.
- fade during first or second year of life (most have disappeared by age 6-10)

NOTE: Important to clearly record location of macules as they are easily confused for bruising.


cafe au lait spots

irregularly shaped, evenly pigmented, brown macules.

multiple lesions associated with neurofribromatosis.
- measure size and draw location / count # (most individuals with neurofibromatosis have 6 or more spots that are 1.5 cm or greater in diameter)


congenital vascular lesions: hemangiomas v. malformations

- 40% at birth
- common on face; anywhere
- well delineated
- rapid neonatal growth with slow involution
- arterial

malformations (3):
- 99% present at birth (clinically subtle)
- common on limbs; anywhere
- porly circumscribed
- no change in size (grows with child, no involution)
- venous and capillary

Three vascular malformations:
- nevus simplex (salmon patch, macular stain)
- port wine stain
- cutis marmorata



Benign neoplasm resulting from rapid proliferation of endothelial cells.

Superficial (strawberry), deep or mixed.

Proliferate for 8-18 months then regress.

50% gone by age 5, 90% gone by age 9 (10% per year).

When to treat: obstruct vision, in diaper area (ulcerate), facial lesions since can disfigure even if regress down road

Note: baby Ben


nevus simplex

Light red blanching macule on nape of neck (stork bite) or glabella/eyelids (angel kiss).
- 70% white babies, 60% black babies.
- fade with time but always present - more pronounced when flushed.

Note: lacy looking and can cross midline


port wine stain

Flat dark pink to red macule found on face or limbs.
- typically do not cross midline.

Can be associated with syndromes:
- On face and involving an eye, may be associated with Sturge-Weber syndrome.
- On legs can be associated with Klippel-Trenaunay-Weber syndrome


when to suspect an infection based on dermal lesion

Infection must be considered if vesiculobullous or pustular lesions are found in a newborn.
- Herpes Simplex
- Staphylococcus
- Bullous Impetigo

Note: most infectious lesion appear in days to weeks after birth
- see HSV and staph (main one) at birth


care of newborn skin

newborn skin is thinner and has large surface to body ratio

- do not bath often, no soap, no lotions with chemicals


Colorado Can Do 5 - Breastfeeding (hospital maternity care practices that will help with successful breastfeeding)

1. Infants are breastfed in the first hour after birth.
2. Infants stay in the same room as their mothers.
3. Infants are fed only breast milk and receive no supplementation.
4. No pacifier is used.
5. Staff gives mothers a telephone number to call for help with breastfeeding.


Breastfeeding: 3 basic things for health care providers to know

nutritional parameters:
- Weight loss (10%)
- Regain weight by day 10
- A teaspoon (5 mL) at a good feed
- Yellow stools at day 5

hand expression:
- good for engorgement, sore nipples

asymmetrical latch:
- nose of baby pointed at nipple; mouth below nipple; a lot more of the lower portion of nipple and areola in babies mouth; nipple should be way back in babies mouth (b/t hard and soft palate); babies mouth is massaging lower breast tissue stimulating more milk; areola and breast tissue is what is massaged by babies mouth


indications for formula

As a substitute or supplement for human milk in infants whose mothers choose not to exclusively breastfeed

For infants in whom breastfeeding is contraindicated (mom's with HIV)

As a supplement for breastfed infants whose intake of human milk is inadequate to support appropriate weight gain


composition - breast milk v. formula

very different in composition:
- human milk has hormones, antibodies, growth factor, live cells, etc.
- formula made from cow's milk (whey in breast milk is primarily lactalbumin, in cow’s milk it is lactoglobulin)


storing breast milk v. formula

Use thawed room temp breast milk within 4-6 hours (formula 2-3).

Use refrigerated breast milk within 48 hours (formula 24).

Do not freeze formula (breast milk can be frozen for 3-6 months).


why not use cow milk for infants under age of 1?

Infants fed cow’s milk develop anemia
- low iron concentration and not bioavailable
- cow milk protein can irritate bowl and cause intestinal blood loss

Note: higher concentrations of protein, sodium, potassium and chloride
- inadequate essential fatty acids, Vit E and zinc


preparing formula

clean water source
add water first
mix according to package instructions:
- powdered: one scoop of powder to 2 oz of water = 20 cal/oz
- ready to feed: shake well


daily requirements of baby

for growth, baby needs a minimum of 100cal/kg/day


goals for growth - newborn

Keep in mind initial weight loss up to 10%
- 4-6% DOL #1 2-3% DOL #2

Surpass birth weight by 2 weeks.
- 0-3 months gain 15-30 grams/day
- 3-6 months gain 15-20 grams/day
- 6-12 months gain 10-15 grams/day


formula feeding - anticipatory guidance

Vomiting or spitting up is common and does not require formula change unless there is inadequate growth

Stools tend to be pasty and brown, occur one to twice/day

Note: constipation with good wt gain is common with formula!
- constipation with slow weight gain may indicate inadequate calories (volume or concentration – check history)

Blood in stool or vomit - reason to change formula


types of formula available

Cow’s Milk Formula (Enfamil and Similac)
- Added iron
- Added ARA and DHA
Hydrolyzed (for babies allergic to milk and soy) - aka hypoallergenic
Specialty (for PKU, renal disease or premature infants)


who should have soy formula?

Often, babies with cow's milk intolerance also have soy intolerance (35-60%)

1. Parents who are strict vegans
2. A true diagnosis of lactose intolerance (rare in babies)
3. Congenital galactosemia


milk allergy

allergy to cow milk protein; most common in infants (most outgrow)
- diarrhea, vomiting, failure to thrive, eczema and respiratory symptoms
- colitis – inflammation of mucosa resulting in GI discomfort and blood in stool


hypoallergenic formulas

Extensively hydrolyzed formulas: cow's milk proteins that are broken down

Amino acid-based infant formulas: contain protein in its simplest form (amino acids are the building blocks of proteins)

Alimentum, Nutramigen, Pregestamil, Neocate



Congenital obstruction of the nasolacrimal duct causing tears to drain out of the eye, onto the face.
- very common; 90% resolve in 1st yr of life (massage and keep clean)
Note: contact ophthalmologist after 12 months

- associated with mucoid discharge from the lacrimal punctum
- not infected but predisposes to infection
Conjunctiva clear, but mucus can trap bacteria causing an associated conjunctivitis with conjunctival injection



complication of dacrostenosis

Infection of the obstructed nasolacrimal duct
- requires antibiotic management and possible surgical opening of the duct


goopy eye in newborn: differential

dacrostenosis: likely resolve on own

conjunctivitis: thick, pussy discharge; why we do prophylactic eye tx at brith; caused by STIs

periorbital cellulitis: serious complication - can get into orbit and brain

corneal abrasion: scratch eye with nail; red eye that is painful and watery (see eye doc)

congenital glaucoma: thick, pussy discharge



Surgical removal of the foreskin of the penis to expose all or part of the glans for therapeutic, prophylactic, ritual or religious reasons

1999 AAP: Existing scientific evidence demonstrates potential medical benefits of newborn male circumcision; however, these data are not sufficient to recommend routine neonatal circumcision.

2012 AAP: Evaluation of the current evidence indicates that the health benefits of newborn male circumcision outweigh the risks


benefits of circumcision

easier hygiene

dec. risk of penile cancer

dec. bacterial colonization
- UTIs, ballantitis (infection of foreskin), phimosis (unretractable foreskin)

dec. risk of STIs (HPV and HSV; likely syphilis; 40-60% HIV)
- none for Gonorrhea or chlamydia
- protection not seen for homosexual males



foreskin gets stuck behind the glans and acts as a tourniquet
- surgical emergency

Recurrent balanitis can lead to phimosis
Retraction of a phimosis can result in paraphimosis


circumcision techniques

Plastibel: uses clamp and string
Gomco: pull up foreskin and use instrument to cut
Mogen: blind cut with scalpel

All rely on crushing of tissue and removal of excess skin

Cosmetically unpleasing


which religion requires circumcision

Jewish (day 8)


SIDS - Back to Sleep

The sudden death of an infant under 1 year of age, which remains unexplained after a thorough case investigation, including performance of a complete autopsy, examination ofthe death scene, and review of the clinical history.

Phenomenon of unknown cause

Leading cause of death - infants 1 month - 12 months (beyond neonate)


SIDS - risk factors

Prone sleep position
Sleeping on a soft surface
Maternal smoking and drug use during pregnancy
Second-hand smoke
Late or no prenatal care
Young maternal age
Preterm birth and/or low birth weight
Male gender



Offer a pacifier at nap time and bedtime.
- helps to reduce the risk of SIDS.
- If you are breastfeeding, wait until breastfeeding is going well before offering a pacifier (3 to 4 weeks)



Infant: children should face rear until at least 1 and 20 lbs (new recommendation is at least 2)

Convertible: forward-facing until age 4 / 40 lbs

Booster: until 4'9" (8-12)

Backseat: until age 13


umbilical cord

Baby’s lifeline; i.e., attachment to placenta
- contains 2 arteries and one vein

Clamping: current trend 30 sec to few min after to give any more blood


cord care

wash cord when baby gets first bath, then allow to air dry

keep diaper folded beneath the cord to keep it dry
Alcohol - used in hospital

Delays cord separation by sterilizing environment (local immune reaction to bacteria helps cord to separate)

Do not put baby into a bath tub until after cord falls off, usually 2 to 3 weeks.



infection of umbilical stump

Erythema surrounding cord gets progressively worse; thick discharge, foul smell, hot and painful to touch

Dangerous – direct line back to vena cava: peritonitis; babies can get septic

Treatment: full septic workup; IV antibiotics for a week


umbilical granuloma

small red mass of scar tissue that stays on the belly button after the umbilical cord has fallen off.
- this granuloma will drain a light-yellowish fluid.

usually self-limited, but healing can be hastened with the application of silver nitrate


umbilical hernia

type of ventral hernia (covered by skin)
- Intestine protrudes through defect in abdominal wall left by the umbilical cord.

Surgery if persist beyond 4 yrs


birth trauma

molding of head (recovers quickely)
- breech flat on top
- vaginal cone-shaped


hemorrhages in different spaces of skull

caput succadaneum:

subgaleal hematoma: in large potential space under galeal - can leave to hemorrhage; changes position with gravity



caput succadaneum

collection of edema in scalp; just below skin
- results from banging of baby’s head on mom’s pelvis
- crosses suture lines
- resolves in 1 to 2 days
- completely benign



Collection of blood beneath the periostium which surrounds the bones of the skull (usually parietal)
- limited by suture lines
- results from pounding head on mom’s pelvis during labor
- resolves over days to weeks
- risk of developing jaundice as pool of blood is broken down


subgaleal hemorrhage

Bleeding into large potential space between the scalp and skull
- result of shearing forces from vacuum or suction tearing bridging vessels
- can be quite dangerous as a large volume of blood can be lost, causing shock, anemia
- feels boggy / water balloon

NOTE: dependent on gravity


shoulder dystocia

Shoulders get stuck during delivery

Risk factors: big baby, small pelvis

Erb's Palsy: Stretch injury of brachial plexus


Erb's Palsy

Stretch injury of brachial plexus

Causes characteristic “waiter’s tip” flaccid position of arm

Resolves distally to proximally over course of days to weeks.


fractures of baby during birth

Most commonly fractured bone at delivery: clavicle

Second most common: humerus

Third: skull

Multiple fractures or fractures of other bones would lead one to consider diagnosis of osteogenesis imperfecta


How long does AAP recommend mom's exclusively breastfeed

one year; introduce solids 4-6 months
- as long as mom and baby can


vast majority of early onset sepsis will present by how many hours of life



medicine and desired dosing schedule for prevention of GBS sepsis

Penicillin – at least 2 doses 4 hours apart.


At this number or less,
an ANC (absolute neutrophil count) would be considered



upper limit of normal for an I/T ratio



length of full term gestation

38-42 weeks

Note: 37 treat as term with high level of suspicion


how to read a chest x-ray (CXR)


R: rotation (check clavicles)
I: inspiration (9 ribs)
P: penetration (correct amount of x-ray material; should see b/t vertebrae)
A: should see two bronchi splitting from airway
B: fractures of anomalies
C: rt and lt heart borders
D: diaphragm borders should be well-defined
E: everything else (lines, leads, foreign bodies)



reported 1 and 5 minutes after birth; most effective for term babies; expression of infant's physiological condition and includes subjective components

A: appearance
- blue or pale = 0
- acrocyanotic (hands, lips blue) = 1
-pink = 2

P: pulse (HR) 80-160 BPM
- absent = 0
- 100 = 2

G: grimace / reflex irritability (responce to stimulation)
- none = 0
- weak response to rub = 1
- active withdrawal or cry = 2

A: activity (tone)
- limp = 0
- some flexion = 1
- active motion = 2

R: respiratory, 30-60 breaths/min
- absent = 0
- weak cry/hypoventilation = 1
- good, crying = 2


Tetralogy of Fallot


A set of congenital cardiac defects including:
- overriding of ascending aorta over ventricular septum and receives venous as well as arterial blood (due to hole in septum)
- ventricular septal defect
- pulmonic valve stenosis (obstruction of RV outflow) - valve is pushed over and compromised
- right ventricular hypertrophy due to inc. pressure since blood can't get through valve; considered part of the tetralogy although it is reactive to the other defects (syn: Fallot tetrad)

Note: degree of cyanosis depends on degree of stenosis of the pulmonic valve

Note: "boot-shaped" heart


ventricular septal defects (VSD)

acyanotic heart lesion
hole in either atrial or ventricular septum; blood will flow in direction of greatest to least pressure, which changes from fetus to newborn

- if on own, will not present with hypoxia since blood goes form lt to rt and to lungs to get oxygenated
- if part of tetralogy of fallot, this is a mixing lesion that presents with hypoxia



Most sensitive tool for differentiating between primary pulmonary and cyanotic congenital heart disease
- measure pO2 by blood gas in room air
- place baby on 100% oxygen for 10 minutes, then re-check blood gas
- note: pulse ox often used, easier but less accurate

Results: a patient with primary pulmonary disease will usually dramatically increase saturation when given oxygen; cardiac etiology will have no improvement


most common cardiac lesions in newborn (cyanotic vs. acyanotic)

Cyanotic - 5 T's with a P and H
- Transposition of the great vessels
- Truncus arteriosus (single arterial vessel arises from heart, instead of separate aorta and pulmonary artery)
- Tricuspid atresia (absence of tricuspid valve on rt side of heart)
- Tetralogy of Fallot
- Total anomalous pulmonary venous return (TAPVR) (pulmonary viens do not empty into LA)
- Pulmonary atresia / stenosis (passage is closed, narrow, or absent)
- Hypoplastic left heart

- Patent ductus arteriosus
- Large septal defects
- Critical aortic stenosis
- Coarctation of the Aorta
- Hypoplastic left heart


definition of neonate

period of birth to 28 days old


partial pressure of oxygen

partial pressure of any gas is a measurement of how much gas there is in any environment (e.g. liquid, room of air)
- changes with altitude
- changes in fetal lung during transition


percent saturation

% saturation of oxygen in air is 21% regardless of altitude
- the number of molecules of oxygen are fewer as altitude increases but the percentage of oxygen molecules to total molecules in air is always 21%

% saturation of oxygen in blood - percentage of red blood cells are carrying oxygen
- measured by a pulse oximeter
- this can change with blood


how can you trust you have an accurate pulse Ox reading

wave-forms on machine and pulse matches the one you took


pressure changes during transition and effects on shunts

Increase in pO2 in blood when baby begins to breathe air
- dilatation of vessels in pulmonary bed drops pulmonary pressures; therefore, right sided pressures become lower than left (functional shunt gone)
- constriction (closure) of ductus arteriosus

Systemic pressure increases as a result of cutting off umbilical circulation (to and from placenta) with result of increased volume elsewhere

Foramen ovale: pressure effect of having LA pressures greater than RA pressure

Ductus venosus closes because there is no longer flow through it


three types of operative delivery and risks of each

Cesarean section: - retained lung fluid
- laceration of the fetus
- surgical complications
- prolonged recovery for mom

Forceps assisted birth:
- skull fractures (rare)
- facial nerve palsy (heals quickly / good prognosis)

Vacuum assisted delivery: shearing forces on the scalp
- subgaleal hemorrhage: large potential space where baby can bleed out (extradural hemorrhage) - why we say these can be dangerous (shock)


what does not cross placenta (hint: glucose-related)



benign murmurs (3 common) - common during transition / closing of shunts

Pulmonic flow murmur or “peripheral pulmonic stenosis”

Physiologic ductus arteriosus

Tricuspid Jet


ways to evaluate newborn

fetal echocardiogram: only most severe cases of CHD can be determined (more accurate at 18-20 weeks)
- most useful for congenital heart lesions, but very expensive!

blood pressure (4 limbs): difference b/t rt arm and leg is indication for coarctation of aorta

pulse oximetry (done as screening test; baby can be low on O2 saturation even if color is good)

chest x-ray: useful for signs of CHF (enlarged heart or pulmonary edema)


transitional period for newborn

first few hours after birth; period of many changes in the physiological makeup of the newborn, including conversion of cardiac and pulmonary systems to extrauterine life


risks for premature babies

meconium aspiration syndrome (MAS)

Hyaline Membrane Disease/Respiratory Distress Syndrome (RDS)

patent ductus arteriosus