Exam 2 Flashcards
(289 cards)
1
Q
Series of blood tests performed on a neonate with the goal of early identification and treatment of disease
A
newborn screening
2
Q
newborn screening consists of
A
- Individual tests for specific diseases (PKU)
- Tandem mass spec
- Genetic probes
- Hearing screen
- Pulse oximetry screening
3
Q
Galactosemia screening was adopted in all 50 states when
A
mid 1970’s
4
Q
Features of any Screening Test (6)
A
- 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 contorversial
5
Q
the probability that a person who truly has a disease will have a positive test. This is a “true positive”
A
sensitivity
6
Q
Screening tests should have a very high _____ rate, though it means sacrificing ____
A
high sensitivity rate
specificity
7
Q
the probability that a person who really does not have the disease will have a negative test. This is a “true negative.”
A
specificity
8
Q
true positive
A
sensitivity
9
Q
true negative
A
specificity
10
Q
a person who tests as negative but who is actually positive
A
false negative
11
Q
a person who tests as positive but who is actually negative
A
false positive
12
Q
the likelihood that a person has the disease given a positive test result
A
positive predictive value
13
Q
the likelihood that a person does not have the disease given a negative test result
A
negative predictive value
14
Q
who mandates and gives states time to comply as states have particularities
A
HHS
15
Q
what are the screening requirements for CO
A
initial and second test screening (second test around 1-2 weeks of age)
**some diseases show up later and can be missed at birth screening like thyroidism
16
Q
tests currently being screened in CO (9)
A
- Phenylketonuria*
- Congenital Hypothyroidism*
- Hemoglobinopathies*
- Galactosemia
- Cystic Fibrosis
- Biotinidase Deficiency
- Congenital Adrenal hyperplasia*
- B.A.E.R. (hearing test)
- TANDEM Mass spect
17
Q
what tests use dried blood spot sample
A
- PKU
- Hypothyroidism
- Sickle cell disease
18
Q
First and classic congenital disease identified by newborn screen
A
PKU
19
Q
a disorder of amino acid metabolism where branched chain AA are not broken down appropriately caused by an enzyme deficiency
A
PKU
20
Q
sx include:
- neurodevelopmental problems:
- Developmental delay to severe cognitive impairment
- Seizures
- Autism
- Hyperactivity
- Aggressive behavior
- Hair and skin changes incl. hypopigmentation (from lack of melanin)
A
PKU
21
Q
How is PKU treated?
A
-restricted diet- elimination of certain amino acids**Children of mom off diet during pregnancy at risk for congenital heart disease
22
Q
Most common true positive test
and most common test to be missed on 1st screening and picked up on second screening
A
hypothyroidism
23
Q
when do you check for hypothyroidism
A
Check as close to or after 24 hours bc there is a TSH spike immediately after birth which can alter results
24
Q
if mom is on TH what can happen to the babys results
A
get false positive
25
Untreated, causes “cretinism”
hypothyroidism
26
sx include:
1. “cretinism”
2. Cognitive impairment
3. growth and neurologic abnormalities,
4. fatigue,
5. skin changes,
6. coarse hair
7. large tongue
hypothyroidism
27
how is hypothyroidism treated
Thyroid hormone for life
| *normal IQ, good health
28
```
sx include:
Painful crises
Aplastic crises
Predisposition to infection
Tendency toward infarction
Bony changes associated with high blood cell turnover
```
sickle cell disease
29
caused by ectopic thyroid gland (migrated wrong)
hypothyroidism
30
commonly causes bone marrow to shunt down or infarct of the spleen
sickle cell disease
31
sickle cell is screen by screening for what conditions
Hemoglobinopathies Screen
32
diagnostic/confirmatory test and screening test for sickle cell disease
screening: isoelectric focusing
| diagnostic/confirmatory: hemoglobic electrophoresis
33
treatment of sickle cell
1. Early immunization against “encapsulated organisms,” pneumococcus and H.flu
2. Penicillin prophylaxis
3. Early treatment of crises
4. Attention toward hydration
5. Avoid triggers such as infection, hypoxia (such as altitude)
6. Genetic counseling of parents
7. Pain meds
34
Disorder of membrane transport of ions, specifically sodium and chloride (usually genetic mutation)
cystic fibrosis
35
sx include:
1. Chronic lung disease
(secretions can’t be cleared and act as plugs)
2. Chronic infection
3. Malabsorption/ malnutrition
(secretions are thick and block pancreatic function)
CF
36
treatment of CF
1. C.F. is managed, not cured
2. Antibiotics, preventive and therapeutic
3. Bronchodilators
4. Exogenous pancreatic enzymes
5. Attention to nutrition
37
how do you screen for CF
1. Screen measures immunoreactive trypsinogen
2. Definitive test is sweat chloride
3. Genetic testing for specific mutation
38
an analytic instrument that separates and determines the quantity of ions in a sample based on mass-to-charge ratios
TANDEM Mass Spectrometry
| *difficult to determine normal ranges
39
TANDEM Mass Spectrometry is used to detect primarily what kind of disorders
1. organic metabolism
2. AA metabolism
3. FA metabolism
40
How do you screen for Medium chain Acyl-CoA dehydrogenase deficiency
MASS spect
41
Times of stress and fasting, will cause hypoglycemia and shock
M.C.A.D
42
treatment of M.C.A.D.
Treatment is to avoid fasting & dehydration and administer carnitine
(might need IV hydration)
43
Most debilitating human lymphoid deficiency disease
severe combined immune deficiency (SCID)
44
impairs the differentiation of both T and B lymphocytes
SCID
45
Infants are highly susceptible to recurring infections of viruses, fungi and bacteria
SCID
46
how is SCID inherited
X-linked or autosomal recessive control
47
how is SCID tested for
genetic probe
| confirmatory test- gentic marker
48
how do you treate SCID
bone marrow transplant
49
hemoglobin is a tetramer of 4 beta strands
Bart's hemoglobin
50
normal adult hemoglobin has what
Hbg A, has 2 alpha and 2 beta strands
51
testing for bart's hemoglobin
1. genetic probe
| 2. confirmatory test- hemoglobin electrophoresis
52
One gene missing
silent carrier
53
2 missing genes
Alpha-thal trait
| *usually do well clinically
54
3 missing genes
alpha-thal major
55
sx include:
hydrops fetalis
incompatible with life because of inability to carry oxygen to tissues leading to high output congestive heart failure, hepatosplenomegaly, and end organ failure.
Demise occurs in utero or short after birth usually.
alpha-thal major
56
distribution of Alpha-thalassemia
along the malaria belt
| *same as sickle cell disease
57
the 2nd most frequently observed autosomal recessive lethal disorder
spinal muscular atrophy (SMA)
58
types of SMA
type 1- lethal in first year
type 2
type 3- may live into adulthood
59
how do you screen for SMA
preparation of genomic DNA , a “calibrated short-amplicon genotyping”, and high-resolution melt profiling
60
high prevalence in Navajos
SCID
61
when does the 1st newborn screening take place
24-48 hrs after birth bc you need several feedings first
| ex. galactosemia
62
when does the 2nd newborn screening take place
8-14 days
63
How is the dried blood test administered?
1. Blood is drawn from baby’s heel and allowed to dry on filter paper
2. Sent to Colorado Dept. of Public Health and Environment where individual tests are run
3. Results sent to hospital, PCP, specialty follow-up clinics and definitive tests arranged with families
64
secondary causes of congential hearing loss
irreversible and permanent impairments in:
| speech, language, and cognitive abilities
65
how do you test for congenital hearing loss
BAER
Brainstem auditory evoked response measures brainwave response to broadband click
*non-invasive
*most accurate a 2 weeks but do it at birth when newborns are captive
66
The first non-blood test screen
BAER hearing screening
67
how do you screen for CCHD
pulse oximetry
68
heart disease comprises those lesions that require intervention within 1st month of life
cirtical heart disease
69
pulse ox helps screen for these CHDs
1. Tetralogy of Fallot
2. Transposition of Arteries
3. Truncus Arteriosis
4. Tricuspid Atresia
5. TAPVR
6. Pulmonic Stenosis
7. Hypoplastic Left Heart
8. Coarctation of the Aorta
70
where do you place the pulse ox probe on the baby
Place probe on right hand (preductal) and one foot (postductal)
71
Room air saturation less than ____% requires further workup
95%
72
what is the definitive test for CCHD
echo
73
Approximately ____ % of all newborns have a major malformation diagnosable at birth
2%
74
What is the most common cause of infant mortality in the US
Malformations
75
groups of anomalies occurring together with a common cause
syndrome
76
groups of anomalies occurring together more often than chance alone would allow but cause is unknown
associations
77
one primary defect causes the next, which causes the next
sequence
78
presents with:
- Small chin causes tongue to be pushed up and back (glossoptosis)
- Position of tongue prevents normal closure of palate, causing cleft palate
Pierre Robin Sequence
| *cause is unknown
79
PIerre Robin Sequence results in
Results in obstruction of airway and feeding difficulties
| *tends to improve as mandible grows in the first year of life
80
complete or partial absence or abnormal formation of a structure caused by environmental or genetic factors which interfere with development
malformation
81
a body part which was forming normally but was acted upon by environment to be distorted. Most often, musculoskeletal and fixable
deformation
82
a body part was forming normally when an event occurs that changes it dramatically and irreversibly– often amniotic bands or vascular accident
disruption
83
the inner membrane of the sac which contains the fetus
amnion
84
example of a disruption
amion acting as a tourniquets causing amputations
85
Club foot, properly known as “talipes equinovarus” is an example of what
deformation
86
Caused by in utero positioning and restriction of movement
| Can not be passively moved back to normal anatomic position
club food deformation
87
when is the most common ttime for a malformation to occur
period of organogenesis
| weeks 3-8
88
an example of a malformation
CHD
89
Physical exam findings that occur in less than 4% of population but have no major intrinsic medical significance
Minor malformation
90
most minor malformations are found where
face or hands (70%)
| ex. syndactyly
91
___% of neonates have 1 minor anomaly
___% of neonates have 1 major anomaly
15-20% minor
3% major
92
Single, uninterrupted horizontal crease on palm
| Previously called “simian crease”
transverse palmar crease
93
transverse palmar crease occurs in __% of babes with down syndrome and ___% of chinese
45% of down syndome babes
16% of chinese -considered a normal variant
94
- occur in preauricular region from tragus to corner of mouth
- Can be associated with hearing loss if bilateral- hearing screen
ear tags
*Not associated with renal disease
95
examples of major malformations
omphalocele
| CHD
96
____ % of all malformations occur as isolated malformation: i.e., not as part of a syndrome
70%
97
Multiple malformations are usually due to what etiology
Chromosomal : 14.7%
Single gene: 2.5%
Teratogen: 0.4%
98
types of chromsomal disorders
1. Abnormalities of number- eg. Trisomy v. triploidy
| 2. Abnormalities of structure- eg. Deletions or duplications of portions of chromosome
99
a subset of genetics in which we look at the turning on or off of specific genes
genomics
100
Explains how normal tissues vary from organ to organ
| Also explains how teratogens can effect the expression of an individual’s genetic makeup
genomic defect
101
2 techniques used for prenatal diagnosis of genetic defects and what they can be used for
2 techniques:
1. Amniocentesis
2. Chorionic villus sampling
Can be used for:
1. Biochemical screening
2. Genetic screening (karyotype and FISH probe)
102
Under ultrasound guidance, a spinal needle is inserted through the maternal abdominal wall and uterine wall, into a pocket of amniotic fluid
r
amniocentesis
103
risks of amniocentesis
1. fetal loss
2. damage to fetal structures
3. leakage of amniotic fluid
*risk is greater in 1st trimester than second
104
amniotic fluid contains
cells from skin and kidney
- and then cultured, karyotyped, or FISH technique
105
how is amniotic fluid made/cycled
amnion makes fluid, baby swallows it and then “urinates” it back into the amniotic sac
106
Needle biopsies a portion of the chorion
| Approach may be trans-vaginal or trans-abdominal, depending upon location of the placenta
Chorionic Villus Sampling
107
when is Chorionic Villus Sampling best performed
11-13 weeks
108
risks of Chorionic Villus Sampling
2-3% risk of fetal loss
109
Why make the diagnosis of a syndrome in a neonate?
1. External signs give clues to serious, internal malformations
2. Enables provider to help family plan early interventions for expected issues
3. Genetic counseling; incl. likelihood of recurrence
4. Helps family to deal with uncertainty (prognosis, prediction of potential future problems, community support)
110
Visual inspection of chromosomes and their banding (ID’s all types of specific abnormalities)
karyotyping
111
indications for karyotyping (5)
1. Confirmation of a known syndrome
2. Infants with multiple congenital anomalies
3. Child with developmental delays and morphologic changes
4. Ambiguous genitalia
5. Still born infant with malformation
112
advantage of karyotyping
1. Can see structure of chromosomes.
| 2. Human genome project has enabled us to make more diagnoses based on karyotype
113
disadvantage of karyotyping
1. needs to grow in tissue culture, therefore takes about a week to get results
114
DNA probe + label
Hybridize with sample cells
Fluorescent detector
FISH Probe
| Fluorescent In Situ Hybridization
115
disadvantage of FISH
Asks a specific question; ie. You have to have the disorder in mind when selecting which probe to use.
116
advantage of FISH
results in 24 hrs
117
what is the difference between complete and mosaic trisomy 21
complete- 100% of cells involved
| mosaic- varying percentage of cells involved
118
Clinical Features of Down Syndrome at Birth
1. Hypotonia
(tongue protrudes, more due to tone than size)
Hyperflexibility of joints
2. Typical facies
3. Typical features of hands (transverse palmar crease, clinodactyly)
4. typial features of feet (sandal toe, flat feet)
5. small penis and testes
119
facies of down syndrome (5)
1. Mild microcephaly
2. Up slanting palpebral fissures
3. Small nose with low nasal bridge
4. Inner epicanthal folds
5. Tongue appears prominent because of hypotonia- not actually larger
120
hidden features of down syndrome
```
40% of CHD
Skeletal abnormalities (atlanto-axial subluxation, hip problems)
66% hearing loss
Hypothyroidism
White Blood cell abnormalites
```
121
White Blood cell abnormalites associated with down syndrome
1. Susceptibility to infection
| 2. Increased risk of leukemia
122
Anticipatory Guidance of DS (5)
```
Mental deficiency (IQ ranges 25- 50)
Special programs
Support groups
Rapid response to infection
Infertility
```
123
“Quad screen” maternal serum markers indicating increased risk
1. Decreased alpha-fetoprotein (AFP)
2. Increased Human gonadotropin (hCG)
3. Decreased Unconjugated estriol (uE3)
4. Increased Inhibin A
*Quad screen can detect 85%
124
Prenatal Diagnosis of Down Syndrome
1. Quad screen
2. U/S (look for increased nuchal width)
3. karyotyping via amniocentesis
125
encouraged in moms over ___ y/o regardless of blood screen results to be karyotyped for DS
in moms over 35 y/o
126
```
Quad results of:
AFP: up
hCG: nl
uE3: nl
Inhibin: nl
```
neural tube defect
127
```
Quad results of:
AFP: down
hCG: up
uE3: down
Inhibin: up
```
Trisomy 21
128
Quad results of:
AFP: down
hCG: down
uE3: down
Trisomy 18
129
Simple Trisomy 21
all cells have 3 copies of chromosome 21
130
Trisomy 21 Mosaic
x% of cells have 3 copies of 21, the others have 2
131
Robertsonian Translocation
part of one chromosome becomes stuck on another one (3 copies)
* increases the risk of Down Syndrome in siblings
132
```
presents with:
Short stature
Lack of secondary sex characteristics
Shield chest
Webbed neck
Wide carrying angle of arms
Normal intellect – problems with math
```
Turner's syndrome
133
how is turners syndrome transmitted
X-linked
X
134
Unseen problems with Turner's syndrome (3)
1. Cardiac disease- coarctation of aorta, aortic valve anomalies
2. Infertility/lack of sexual development
3. Renal disease
135
Deletion of a portion of chromosome
prader willi syndrome
136
```
presents with:
Severe hypotonia
Poor feeding at birth and then excessive appetite
Micropenis
Small hands and feet
Normal face
mild-moderate mental retardation
```
prader willi syndrome
137
what medication is used to treat PWS
growth hormone helps curve appetite
138
an example of imprinting
PWS
| *get both copies from mother
139
presents with:
Large head
Short stature
Bony abnormalities: curvatures of spine, short hands, abnormally formed pelvis
achondroplasia
140
how is achondroplasia transmitted
autosomal dominant
141
risks associated with achondroplasia
1. Hydrocephalus (excess cerebrospinal fluid because of large head with small outlet to spinal cord)
2. Respiratory problems caused by limited chest cavity
142
you can reassure families with achondroplasia babies that:
babe will have:
1. normal intelligences
2. normal fertility
143
Occur if both parents, though clinically normal, carry the same gene
autosomal recessive
144
example of autosomal recessive disorders
1. sickle cell disease
2. cystic fibrosis
3. Crigler-Naajar
145
Gene for trait is carried by mother on the X chromosome and expressed in male children only
x-linked disease
146
example of x-linked diseases
1. hemophilia
2. Duchenne’s muscular dystrophy
3. red-green color-blindness
147
Thalidomide can cause
phocomelia (flipper-like limbs)
148
Presents with:
Typical facies
microcephaly
fetal alcohol syndrome
149
facies of FAS (5)
1. small eye openings
2. flat midface
3. upturned nose
4. smooth philtum
5. thin upper lip
150
what to anticipate with FAS
1. Developmental delay with IQ 50-80
| 2. Behavioral problems (leading to school, job, and relationship issues)
151
THE BENEFITS OF DIAGNOSING SYNDROMES EARLY IN LIFE ARE:
1. The ability to help families to anticipate the child’s special needs for the future in order to provide services that will maximize their potential.
2. External features are clues to unapparent, and potentially serious physical problems
152
Frequency of viral infections in fetus and newborn may be as much as ___% as compared to ____% for bacterial disease
6-8%
1-2%
153
___ are more likely than ____ to cross the placenta and cause disease in fetus
viruses more likely than bacteria
154
acquired in utero
| Can result in malformations, fetal loss, prematurity, IUGR, neurological sequellae
congenital infections
155
acquired at the time of birth
| Wide variety of outcomes from asymptomatic disease to chronic disease or death
natal infection
156
acquired during the neonatal period
Postnatal infection-
157
the transfer of a disease, condition, or trait from one generation to the next either genetically or congenitally.
vertical transmission
158
example of what kind of transmission?
Eg. Passing on an inherited trait such as sickle cell disease
Eg. Passing on an infection such as early onset GBS infection
vertical transmission
159
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
horizontal transmission
160
example of what kind of transmission?
Eg. Spreading the common cold or spreading avian flu
Eg. Infant developing late onset GBS sepsis from his mother.
horizontal transmission
161
what happens when mom is infected
1. her immune system first makes IgM (spike in IgM indicates current infection)
* IgM does not cross placenta
2. As the immune response continues, maternal antibody is primarily IgG
* IgG does freely cross the placenta especially in 3rd trimester (persists for 4-6 months)
162
Viral infections act as teratogens when they occur when?
during the 1st trimester
163
effect of virus infection in 2nd trimester
baby gets both infection and immunity
| *tend to do well bc have antibodies from mom
164
effect of virus infection in 3rd trimester
baby can pick up infection without antibody- Mom does not have time to mount a response
165
Viruses that cross the placenta are preceded by maternal viremia, then cause:
1. Replication and infection of placenta
2. Damage to vessels of placenta so it is “leaky”
3. Infection of maternal leukocytes which sneak through inflamed placenta
166
what does TORCH stand for
```
Toxoplasmosis
“Other”- primarily syphilis
Rubella- aka “German measles”
Cytomegalovirus
Herpes
Hepatitis B and C
HIV
*There is no such thing as a “Torch Titer”- provider needs to consider each possible infection and order specific antibody titers separately
```
167
- Caused by an intracellular protozoan parasite
- Most natural infections are acquired by ingesting undercooked meat containing tissue cysts or food contaminated by cat feces.
toxoplasmosis
168
toxoplasmosis Infection in first trimester usually results in
fetal death or in baby with severe neurologic or ophthalmologic disease
169
toxoplasmosis Infection in 2nd or 3rd trimester usually results in
cause mild or subclinical disease
170
what is the host of toxoplasmosis
cats
| *Rarely seen in Colorado because of arid climate- organism likes moisture
171
Lives on farm in a humid climate, have a barn cat, changing litter
toxoplasmosis
172
presents with:
- CNS is prime target with calcifications*, hydrocephalus and cyst formation
- Chorioretinits is common (decreased vision)
- asymmetric IUGR
severe toxoplasmosis
173
weight is less than 10 percentile
SGA
| small gestational age
174
in general, what type of IUGR is better
in general asymmetric is more healthy than a symmetric IUGR because it shows that the brain is still growing (small head indicates slowed brain growth)
175
what study do you do to look for hydrocephalus in a newborn
head u/s
176
Sexually transmitted infection caused by Treponema pallidum
syphilis
177
4 stages of syphilis is adults
1. Primary- ulcerative lesion on genitals, non-painful and easily missed
2. Secondary- systemic illness with fever, sore throat, headache and diffuse rash
3. Latent- treponemes present but without symptoms
4. Tertiary syphilis (neurologic symptoms- dementia, neuropathy, Cardiac aneuryms)
178
Baby more likely infected with shyphilis if mom is infected during what trimester
second or third trimester
| *can do well during the 2nd trimester
179
presents with:
- 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 and dental abnormalities, anemia, snuffles*)
congenital syphilis
180
how do you treat congenital syphilis
penicillin
181
Untreated congenital syphilis, will develop
neurosyphilis and bony changes
182
Classic example of viral teratogen if infection occurs during the first 8 weeks of pregnancy
rubella
183
```
presents with:
Heart defects
Hearing loss
Cataracts
IUGR
Hepatosplenomegaly
Microcephaly (OFC
```
rubella
| *these symptoms are malformations
184
how do you screen for congenital syphilis
screen with RPR then do more a specific testing (antibody testing)
185
Late infection with rubella; ie, in third trimester, causes
myocarditis- pathology of an already formed structure
| *deformation
186
consists of raised purplish bumps on the skin which reflect extramedulary hematopoiesis (in the skin)
blueberry muffin rash
| *Formation of new blood cells outside of the bone marrow
187
presents with blueberry muffin rash
congenital rubella
CMV
congenital leukemia, neuroblasoma
*any intrauterine condition in which there is severe anemia
188
how is rubella prevented
MMR vaccine
| *rate has continually declined, 92% of people in US are immune
189
Most common cause of intrauterine infection in US most sources quote a rate of 1% of all neonates infected
cytomegalovirus (CMV)
190
Mom is asymptomatic, as are most babes
CMV
191
20-30% risk of fetal loss if occurs if CMV is caught during ___ trimester
first trimester
192
```
presents with:
Prematurity
Corioretinopathy
Hepatic failure
Abnormal liver function tests
Elevated direct bilirubin
“Microcephaly”, i.e., OFC (head circumference) less than 5%tile
```
CMV
| *symptoms are most severe in 1st trimester
193
the most common cause of congenitally-acquired sensoirneural hearing loss
CMV
* accounts for 90%
* *progressive and may present after newborn period
194
long-term sequellae of CMV
1. intracranial calcifiations
2. hearing loss
3. Cerebral palsy
4. Seizures
5. Cognitive impairment
6. Dental defects
195
how is CMV diagnosed
- Urine specimen is best source for culture (though virus present in other body fluids also)
- Blood tests available to look for CMV antigens
196
how to treat CMV
Gancyclovir
| *though it has side effects and is not well proven to be effective
197
Viral infections acquired during time of delivery
HIV
Hepatitis B
Hepatitis C
Herpes Simplex virus
198
Risk of transmission of HIV from untreated mom to baby is ___%
25%
199
When can you start antiretrovial therapy if mom has HIV
right away based upon the resistance pattern (results from starting and stopping medication use)
*antiretrovial are NOT teratogenic to developing fetus
200
how is mom treated for HIV during labor
- baby of mom with high titers usually have cesarean and start AZT
- baby of mom with low titers can deliver vaginally and are recommended but not required to begin AZT
201
what is the recommendation of breastfeeding with a mom who has HIV
Until recently, these mothers were prohibited from breast feeding. Now, though discouraged, we are beginning to see this recommendation soften
202
if you treat mom for HIV during pregnancy and follow recommendations, what is the risk of baby getting HIV
less than 1%
203
what do you do when a mom with HIV delievers a baby
CONTACT CHIP PROGRAM AT TCH to arrange follow up
204
can HIV be passed through breast feeding
yes
*In developing world, particularly Africa, better to continue to breast feed. The likelihood of newborn death due to diarrheal illness outweighs death due to HIV
205
presents with:
- Subacute illness with nonspecific symptoms
- Clinical hepatitis with jaundice which is self-limited
- Fatal fulminant hepatitis
- Chronic hepatitis with persistence of hepatic inflammation and dysfunction for decades and predisposition for hepatocellular CA.
Hepatitis B (HBV)
206
More than ___% of perinatally infected infants with HBC will develop chronic infection whereas only approximately ___% of infected adults do
90% of infants
10% of adults
207
what part of prenatal labs screens for HBV
HBsAg
208
Management of newborn born to MOC with positive serology of HBC and how effective is it?
1. Immediate bath
2. Hep B vaccine 0.5ml IM
3. HBIG (Hepatitis B Immune Globulin) 0.5ml IM
* Breastfeeding poses no threat to baby
**95% effective in preventing HBV infection in baby!
209
does HVB get into breastmilk of mom?
yes
| *can still breastfeed if mom is getting treated
210
Signs and symptoms of hepatits C virus are
-indistinguishable from Hep B and Hep A
211
Not part of routine prenatal screening
```
Hep C (HCV)
*child/baby have a low chance of devloping chronic disease whereas adults have a high chance of developing chronic disease (opposite of HBV)
```
212
Babies born to HCV+ mom should be tested for HCV
| when?
18 months, when maternal antibody is no longer present
| *if positive, treat with interferon and anitviral meds
213
is HCV in breastmilk?
Virus has been detected in breast milk but has not been responsible for disease
214
what type of HSV more commonly causes neonatal infection
HSV-2 more likely than HSV-1
215
3 ways HSV can present:
1. ) 1/3 disseminated disease involving multiple organs, esp. liver and lung
2. ) 1/3 localized CNS disease
3. ) 1/3 localized to skin, eyes and mouth
*Consider diagnosis in neonates with fever, irritability, abnormal CSF findings and seizures
216
initial symptoms of HSV occur when
between birth and 3 weeks
217
HSV within first week- overwhelming viral sepsis
disseminated disease
218
HSV infection during 2nd week- mucocutaneous (lesions), milder disease
local infection
219
HSV: Meningitis, during second or third week
CNS infection
220
HSV is most often transmitted when
during birth through an infected maternal genital tract
| *Occasionally an ascending infection through apparently intact membranes
221
HSV risks to babe
- 33-50% if mom’s primary infection
| - 5% if result of reactivation shedding
222
Cesarean delivery may decrease the risk to baby if performed when
within 4 to 6 hrs of membrane rupture and supressive thearpy is indicated
* Many OBs elect to perform C/S whenever active lesions are present (no need for c/s if no active lesions present)
* Avoid use of fetal scalp electrode as this is a common site for introduction of infection
223
Care of Newborn at risk for HSV because of maternal lesions
1. isolation
2. culture of urine, stool, mouth, nasopharynx, and rectum
3. Treatment (use acyclovir if has any symptoms)
224
Fifth disease
Parvovirus B19
225
Causes mild, self-limited illness with typical rash in young children- “slapped cheeks” and lacy rash on extensor surfaces of joints
*cause bone marrow suppression
Fifth disease
* Contagious before rash appears and not when rash appears
* can last up to 6 weeks
226
Exposure of fifth disease in pregnant woman in first trimester carries ____ risk of miscarriage
low risk
*risk of aplastic crisis in those predisposed, especially patients with sickle cell disease or anemic
227
disease typical in preschool children
Parvovirus B19 (aka Fifth disease)
228
Caused by Herpes Varicella Zoster virus
varicella
| aka chicken pox
229
presents with:
characterized by fever, puritic rash
potential for pneumonia, encephalitis
varicella
*lesions are all at different stages (small pox lesions are all at same stage)
230
recurrence of varicella lesion is known as
shingles or zoster
231
Painful, puritic lesions found along a dermatome in particularly in patients who are immunocompromised
shingles
| *now have shingle vaccine for people older than 60 y/o
232
Effects of Herpes Varicella Zoster Virus on Fetus and Newborn in first trimester
varicella embryopathy- limb atrophy, CNS, eye manifestations (malformations)
233
Effects of Herpes Varicella Zoster Virus on Fetus and Newborn in second trimester
unapparent infection, may set patient up to develop shingles without having chicken pox first
234
when can varicella infection be fatal
infection occurring 5 days before to 2 days after birth
235
Effects of Herpes Varicella Zoster Virus on Fetus and Newborn in third trimester
no problem if before 5 days bc maternal antibodies
236
```
sx:
watery eye (worse w/ colds)
clear conjuctiva
mucus can trap bacteria causing associated conjunctiviits
otherwise healthy
```
Dacrostenosis
aka Goopy eye
**not infected by predisoses to infection
237
what is dacrostenosis associated w/
- Congenital obstruction of the nasolacrimal duct causing tears to drain out of the eye, onto the face
- Associated with mucoid discharge from the lacrimal punctum
238
when does dacrostenosis become sympotomatic and how common is it
Present at birth. Becomes symptomatic in later half of first week of life
Very common. Occurs in 6% of newborns
-30% of affected newborns will have bilateral
involvement
239
tx of dactrostenosis
-90% resolves on its own in 1st yr of life
-Massage duct has traditionally been recommended (Utility is
questionable)
-keep eye clean w/ warm wet washcloth
*if not resolved by 12 months consult opthalmologist for probing
240
Infection of the obstructed nasolacrimal duct
dacrocystitis
241
tx of dacrocystits
antibiotics
| possible surgical opening of the duct
242
sx:
redness of conjunctivae
crusting of eyes
conjuctivitis
*caused by Strep/staph/STIs
243
sx:
cellulitis of skin surrounding eye (warm to touch, pussy discharge)
-eye pain
concerning can spread to behind the eye to optic nerve and can lead to blindness and direct route to brain so look for meningitis
periorbital cellulitis
244
sx:
red eye
eye pain
really watery
corneal abresion
245
Surgical removal of the foreskin of the penis to expose all or part of the glans for therapeutic, prophylactic, ritual or religious reasons
circumcision
*procedural analgesia should be provided
246
AAP recommendation for circumcision
-circumcision has potenital health benefits however, not required in all children routinely bc risks can be reduced with good hyigene and safe sex
**ALL parents should be educated on the risks and benefits in an unbiased way
247
Best reason for not circumsizing
not medially necessary, unnecessary procedure (as long as the male has good hygiene and has safe sex practices)
inaccurate studies showing loss of sexual pleasure or decreased ability to express emotion
248
benefits of circumcision
1. easier hygiene
2. Decreased risk of Penile Cancer- very low prevalence, so not compelling
3. decreased bacterial colonization (10 fold reduction in UTIs in boys during first 2 yrs of life)
4. decreased skin infections (leads to decreased phimosis)
5. decreased risk of STIs
249
infection of the foreskin and glans
- causes pain and discharge
ballanitis
250
unretractable foreskin
phimosis
251
recurrent balanitis can lead to
phimosis
252
Retraction of a phimosis can result in
paraphimosis
| an emergency situation- foreskin gets stuck behind the glans and acts as a tourniquet
253
what STIs are reduced by circumcision
1. Decrease in HPV and HSV in men and their partners (HPV implicates cervical CA)
2. 40-60% against HIV**
3. Probably against syphilis
**more protective if performed before puberty and onset of sexual activity and only in heterosexual males
254
why does circumcision protect against HIV so much?
1. Mucosal surface of foreskin is subject to tears and abrasions
2. Mucosal surface has a high concentration of Tcells and Langerhans cells which are specific targets for H.I.V.
3. Creates an ideal environment of moisture and entrapment for organisms
255
circumcision techniques
Plastibel
Gomco
Mogen
* All rely on crushing of tissue and removal of excess skin
* All safe in experienced hands (2% complication risk- bleeding, infection, injury, cosmetically unpleasing)
256
what religions require circumcision
Jewish - day 8
Muslim
*Most people make decision based on personal, religious or social reasons
257
describe the plastibel technique
- put plastic ring, pull skin back up, where circumcision occurs
- cut off extra foreskin
- left over skin turns black and necrosis like umbillical cord
- ring string falls off around 1 week
258
describe Gomco technique
- put a cap on the glans
- clamp the foreskin and cut
- doesnt leave anything on the penis
259
describe the Mogen technique
- clamp foreskin
- cut foreskin with scapel (blind cutting)
* *Fastest method
260
Rules for circumcision:
- Have to have peed in life
- Need to have Vit. K injection
- Normal feeding patterns (bc procedure is stressful for baby so may sleep and not eat much after)
261
what IS RESPONSIBLE FOR MORE INFANT DEATHS IN
THE UNITED STATES THAN ANY OTHER CAUSE OF DEATH DURING
INFANCY BEYOND THE NEONATAL PERIOD.
SIDS (sudden infant death syndrome)
**death of unknown cause before 12 months
262
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 of
the death scene, and review of the clinical history.
SIDS
*90% before 6 months of age
after 12 months would be an unexplained death not SIDS
263
risk factors for SIDS
1. Prone sleep position
2. Sleeping on a soft surface
3. Maternal smoking/drug use during pregnancy or second hand smoke
4. Overheating
5. Late or no prenatal care
6. Young maternal age
7. Preterm birth and/or low birth weight
8. Male gender
9. Black or NA (2-3x higher incidence)
264
what has reduced the incidence of SIDS (9)
1. sleeping baby on back (50% reduction)
2. use firm surface (don't use car seat or swing bc it compresses throat)
3. don't sleep in same bed as parent but DO sleep in same room
4. breastfeed
5. offer pacifer at nap/bedtime
6. don't use soft objects/pillows/blankets in bed
7. dont use wedges
8. don't smoke
9. don't over heat
265
successful steps for breastfeeding success
1. Help mothers initiate breastfeeding within 30min of birth
2. Show mothers how to breastfeed, and how to maintain lactation even if they should be separated from their infants
3. Give newborn infants no food or drink other than breast milk, unless medically indicated
4. ractise rooming-in - that is, allow mothers and infants to remain together - 24 hours a day
5. Give no artificial teats or pacifiers (also called dummies or soothers) to breastfeeding infants***** until BF is established
266
pacifier safety
1. use 1 solid piece (dont use nipple from bottle)
2. The shield between the nipple and the ring should be at least 1-1⁄2 inches (3.8 cm) across
3. Never tie a pacifier to your child’s crib or around your child’s neck or hand
4. clean and inspect for deterioration
267
what is the recommendation for rear facing car seats and convertible care safety
until they are at least 1 year of age and weigh at least 20lb (semireclined in convertible) to decrease the risk of cervical spine injury
*A.A.P. now even recommends rear-facing until 2 years if tolerated
268
what is the recommendation for forward facing car seats
4 yrs or 40lbs
*can be used as long as child fits well- tops of ears below the top of the car safety seat back and shoulders below the seat strap slots
269
Belt-positioning booster seats for
most children through 8 years of age or 4'9"
*Lap-and-shoulder seat belts for all who have outgrown booster seats
270
when can children sit in front seat
13 y/o
271
umbilical could contain
2 arteries and 1 vein
* “2 vessel cord” associated with other anomalies
272
when is umbilical clamping recommending
delayed clamping
Current trend is to wait 30 seconds to a few minutes, to give baby a bit more blood (can prevent anemia especially in premature babies)
273
cord care
1. wash cord when baby gets first bath, then allow to air dry--> Do not put baby into a bath tub until after cord falls off, usually 2 to 3 weeks
2. keep diaper fold under cord to keep dry
3. use dry care at home (allow it fall off on its own)
*There will often be a few drops of blood from the cord for a day or two prior to its falling off
274
infection of umbilical stump
omphalitis
275
a small red mass of scar tissue that stays on the belly button after the umbilical cord has fallen off.
umbilical granuloma
* will drain a light-yellowish fluid
* usually self-limited, but healing can be hastened with the application of silver nitrate, a form of chemical cautery
276
umbilical hernia is a ___ hernia
ventral hernia
* intestine protrudes through defect in abdominal wall left by the umbilical cord (most noticable when baby is crying)
* should be soft and able to push back in
277
tx of umbilical hernia
Generally resolves without treatment.
- Surgery only if persists beyond 4 years
278
sx:
redness around the cord, thick discharge, foul smell, hot to touch, painful, other vitals abnormal (fever), fussiness
direct line back to vena cava--> can can peritoniti
omphalitis
*tx requires full septic workup
279
breeched head appears
flat at top
| cone on back
280
head molding form delivery appears
cone shaped
*improves in 1-2 days
coning is worse in mom who pushed for a long period of time
281
what spaces can collect with fluid as a result of birth trauma
1. caput succadaneum
2. cephalohematoma
3. subgaleal hematoma
4. epidural hematoma
282
Collection of edema fluid in scalp.
| -Results from banging of baby’s head on mom’s pelvis
caput succedaneum
*Resolves in 1 to 2 days
completely benign
283
edema that crosses suture lines
caput succedaneum
284
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
cephalohematoma
- Risk of developing jaundice as pool of blood is broken down
* Resolves over days to weeks
285
Bleeding into large potential space between the scalp and skull
dependent with gravity***
-Result of shearing forces from vacuum or suction tearing bridging vessels
subgaleal hemorrhage
* Can be quite dangerous as a large volume of blood can be lost, causing shock, anemia
* ALL require phototherapy
286
when baby's shoulder gets stuck during delivery
shoulder dystocia
287
shoulder dystocia can lead to
erb's palsy
| fractures
288
- Stretch injury of brachial plexus
- Causes characteristic “waiter’s tip” flaccid position of arm
- might have grasp reflex and nothing else
Erb's palsy
*Resolves distally to proximally over course of days to weeks
(should resolve completely by 3 months- if no improvement in 1 week then get into ortho and PT)
289
what bones are most commonly fractured during birth
1. clavicle
2. humerous
3. skull (associated w/ forceps)
*Multiple fractures or fractures of other bones would lead one to consider diagnosis of osteogenesis imperfecta
