Congenital infections & disorders Flashcards
(69 cards)
1
Q
Aneuploid
A
- Cells deviating from
the multiple of the
haploid number - 23 paired chromosomes
2
Q
(+) or (−) preceding the
chromosome number
indicates _____
A
↑ or ↓ whole chromosome in a cell
47, XY+21
Designates a ♂ with 3
copies of chromosome 21
3
Q
(+) or (−) after the chromosome
number signifies _____
A
extra or missing material on 1 of the arms of the
chromosome
46, XX, 8q−
Denotes a deletion on the
long arm of chromosome 8
4
Q
Trisomy: ____
A
3 of a particular chromosome
5
Q
Monosomy: _____
A
Only 1 of a particular chromosome
6
Q
Examples of structural
chromosomal abnormalities:
A
- Deletion
- Duplication
- Inversion
- Ring chromosome
- Translocation
- Insertion
7
Q
Xenobiotics
A
compounds foreign to nature
8
Q
Neural Tube Defects
A
Anencephaly, encephalocele, spina bifida (myelomeningocele), sacral agenesis, & other spinal dysraphisms
9
Q
Etiology of Neural Tube Defects
A
- Neural tube develops via closure at multiple closure sites
– Each is mediated & affected by different genes & teratogens
– Usual cause → Folate Deficiency - Combined with genetic &/or environmental factors
10
Q
Neural Tube Defects Presentation
A
- Lesions at birth
– Extent of neurologic deficit depends on the lesion level (Open vs. subtle skin covering)
11
Q
Diagnosis of neural tube defects and importance of early diagnosis
A
- Prenatal screening
– Ultrasound
– Maternal alpha-fetoprotein (AFP) - Specific globulin from the yolk sac, GI tract, & liver
- In maternal serum, amniotic fluid, & fetal plasma
– AFP Concentration: Maternal serum AFP < Amniotic fluid or Fetal plasma
12
Q
Ultrasound Screening (US) guidelines for neural tube defects
A
- Transabdominal → 18-20 weeks
– Detection rate = 92-100% for NTD - Transvaginal → 12-14 weeks
– Detection rates vary
44% (spina bifida) >90 (anencephaly)
13
Q
Management of Myelomeningocele (Spina Bifida)
A
– Possible fetal surgery to stop
leakage of spinal fluid & possibly
prevent hindbrain herniation & hydrocephalus
– Delivery
* No benefit of pre-labor cesarean delivery
* Meningocele is unlikely to cause dystocia
14
Q
Management of anencephaly
A
- Poor prognosis
– Most are stillborn or die shortly after birth - Most pregnancies are terminated or induced
- These infants are poor candidates for organ donation
15
Q
Management of Encephalocele
A
- No data available
- Vaginal delivery may be safe (small lesion)
– Cesarean delivery (large lesions)
16
Q
Complications of Myelomeningocele
A
- Poor prognosis
- Intellectual disability
- Hydrocephalus
- Clubfeet
- Dislocated hips
- Neurogenic bowel & bladder
- Total flaccid paralysis
– Below lesion level
17
Q
Complications of Encephalocele
A
- Poor prognosis
- Intellectual disability
18
Q
Most common craniofacial malformation of the newborn
A
Cleft Palate
19
Q
Etiology of cleft palate
A
- Genetic ~10% have a genetic variant
- Environment (drugs)
- Folate deficiency
1. Maternal smoking
2. Maternal obesity
3. Syndromes
20
Q
Nursing education for cleft palate
A
- Difficult* for most infants to generate negative intraoral pressure to suck milk effectively from bottle or breast
- Often can be bottle fed with formula or expressed breast milk with adaptive
feeding equipment
*Some infants may be able to breast feed & the
soft breast tissue will fill gaps & create suction
21
Q
Management of cleft palate
A
- When Dx’d prenatally, recommend amniocentesis
- High % of chromosomal abnormalities for this population
- Surgical Repair
– Primary lip repair at 3 months
– Palate repair ~6 months
22
Q
Phenylketonuria (PKU)
A
PKU is a d/o affecting the amino acid phenylalanine
* Infants lack phenylalanine hydroxylase (PAH)
* Causes Intellectual disability
23
Q
Etiology of PKU
A
- Most cases of PKU are caused
by Phenylalanine hydroxylase
deficiency
– Autosomal recessive inheritance - ↑ serum phenylalanine: Disrupts brain growth,
myelination & neurotransmitter synthesis
24
Q
Phenylketonuria (PKU) S&S
A
– Seizures
– Microcephaly
– Behavioral abnormalities
– Irreversible intellectual disability
– Insidious onset (Signs & symptoms begin
after initiating feeds with breast milk or standard
formula)
25
PKU diagnosis
* Newborn Screening
– Mass spectrometry
– ↑ phenylalanine concentration
– ↓ tyrosine concentration
* ↑ serum & urine concentration of phenylalanine
26
PKU management
* Restrict dietary phenylalanine
* Consume phenylalanine-free protein substitutes
* Breastfeeding is encouraged under the
supervision of an experienced metabolic
dietitian & is alternated with phenylalanine-free formula feeding
– Breast milk (↓ phenylalanine concentration)
27
Galactosemia
↑ serum galactose concentration 2° deficiency ≥ 1
* Galactose-1-phosphate uridyl transferase (GALT)
– MOST common & severe
* Galactokinase (GALK)
* Uridine diphosphate galactose 4-epimerase
28
Galactosemia etiology
* Autosomal-recessive disorder
29
Galactosemia presentation
* Jaundice -74% *
* Vomiting - 47% *
* Hepatomegaly - 43% *
* Failure to thrive – 29%
* Poor feeding -23%
30
Diagnosis of galactosemia
Done with newborn screening
* Serum/Blood
* Urine
(review specifics in slides)
31
Galactosemia management
(+) screening test = change immediately to a soy-based infant formula (no galactose)
– Repeat screening test
– Minimize dietary galactose
32
Hemoglobinopathies
A group of inherited disorders causing abnormal
production or structure of the hemoglobin molecule
33
Hemoglobinopathies includes
* Hemoglobin C disease
* Hemoglobin S-C disease
* Sickle cell anemia
* Thalassemias
34
Most common chromosome abnormality in liveborn infants
Trisomy 21 (Down Syndrome)
35
Most common cause of intellectual disability
Trisomy 21 (Down Syndrome)
36
Trisomy 21 (Down Syndrome) - 3 cytogenic variants
1. 3 full copies of chromosome 21 – 94% of patients
2. Translocation → 3 copies of the critical region for Down syndrome
3. Mosaicism
37
Features of Neonates with Trisomy 21 (Down Syndrome)
1. Hypotonia
2. ↓Moro reflex
3. Anomalous ears
4. Slanted palpebral fissures
5. Dysplasia of mid-phalanx
6. Flat facial profile
7. Transverse palmar crease
8. Excessive nape skin
9. Hyperflexibility of joints
10. Dysplasia of pelvis
38
Clinical Presentation of Trisomy 21 (Down Syndrome)
* Intellectual disability (IQ → 20-75)
* Congenital cardiac defects (~50%)
* Language delays in childhood
* Atlantoaxial hypermobility
* Characteristic facies
* Hand anomalies
* ↓ Height for age
* 18-38% Psychiatric d/o
* Impaired immune response
* ↓ Thyroid function
* Intestinal malabsorption
* ↑ insulin resistance & DM
* Premature senescence
* Leukemia predisposition
39
Trisomy 18 (Edwards Syndrome)
* Trisomy 18 (47,+18)
– 90% result form meiotic nondisjunction (Associated with advanced maternal age)
* Translocation → chromosome 18
* Trisomy 18 mosaicism (47,+18/46)
2nd most common autosomal
trisomy observed in live births
– Most die prenatally
– 50% die within 2 weeks
40
Trisomy 18 (Edwards Syndrome) clinical presentation
* Intrauterine growth restriction
* Congenital heart disease >50%
* Hypertonia
* Prominent occiput
* Small mouth
* Micrognathia
* Pointy ears
* Horseshoe kidney
* Flexed fingers
* Overlapping fingers
* GI system involvement ~75%
* Meckel diverticulum & malrotation
* Omphalocele
* Severe Intellectual disability
* Short sternum
41
Trisomy 13 (Patau Syndrome) - two types
1. Trisomy 13
(47,+13)
* meiotic error
* Advanced maternal age
* ~98.5% embryonic death
2. Trisomy 13 mosaicism
(47,+13/46)
* Mitotic nondisjunction error
* 3 copies of chromosome 13 in
some cells & 2 in others
* NOT related to maternal age
42
Trisomy 13 (Patau Syndrome) clinical presentation
* Micro/anophthalmia
* Left lip &/or palate,
* Postaxial polydactyly
* Other common features: Incomplete development of forebrain & olfactory &
optic nerves, severe intellectual disability,
deafness
43
~80% of patients may have with Trisomy 13 (Patau Syndrome) have
* Ventricular Septal Defect
* Patent Ductus Arteriosus
* Atrial Septal Defect
* Dextroposition
44
Most common sex chromosome abnormality in females
Turner Syndrome
45
Turner Syndrome presentation
* Most Common → Short stature
– ~50%, cardiac malformation
– Short & webbed neck
– Nonverbal learning d/o
– Primary ovarian failure
– Hypothyroidism
– Hearing loss
– Scoliosis
– “Shield chest”
46
Marfan Syndrome
Connective tissue disease
– Autosomal dominant
– genetic mutation
* Chromosome 15, FBN1 gene
– Leads to connective tissue weakness
– Pleiotropic effects
47
Marfan Syndrome characteristics
* Tall, thin stature
* Arm span longer than height
* Body ratio < 0.85 (nl 0.89-0.95)
* Back pain
* Vision problems
* Cardiovascular problems
* Spontaneous pneumothorax
48
Klinefelter Syndrome characteristics
Males
* ↑ lower/upper body segment ratio
* Gynecomastia
* Small penis
* Sparse body hair
* ♀pubic hair pattern
49
Primary Hypogonadism features in Klinefelter Syndrome
* Gynecomastia
* Infertility
* Mild cognitive
impairment possible
* “Eunuchoid habitus”
50
What does “Eunuchoid habitus” mean with klinefelter syndrome?
* Tall, slim & underweight
* Long legs & arms
I.e., arm span exceeds height by 5+ cm
51
Fragile X Syndrome
A genetic disorder characterized by intellectual disability & other neurodevelopmental disorders
(Esp. ADHD & Autism Spectrum Disorder)
52
Fragile X Syndrome etiology
* Caused by loss-of-function mutation on fragile X mental retardation 1 gene (FMR1)
– located on long arm of X chromosome
* X-linked dominant inheritance
53
Fragile X Syndrome clinical presentation
* Developmental delay
– Speech delay (esp. boys
* Motor delay
* Behavioral concerns
* Cognitive deficits
* May have connective tissue dysplasia
* Mitral valve prolapse *
54
Four major groups of teratogens
* Intrauterine infections: T.O.R.C.H. infxs
* Medications & drugs
* Physical causes
* Maternal metabolic diseases
55
TORCH
Toxoplasmosis
Other agents (congenital syphillis, zika, etc.)
Rubella
CMV
Herpes simplex
56
Tetrad of findings in rubella
1. Cataracts
2. Heart defects
* PDA & Pulmonary stenosis
3. Deafness
4. Intellectual Disability
57
“Blueberry muffin purpura” is seen in
Rubella
58
Cytomegalovirus (CMV) signs
* Intrauterine growth retardation
* Hepatosplenomegaly
* Hemolytic anemia
* Encephalitis
* Microcephaly
59
Antiviral agent of choice for neonatal
herpes simplex virus infections
Acyclovir
60
Alcohol is an _____ CNS teratogen
IRREVERSIBLE
61
Risk factors for Fetal Alcohol Syndrome
– Sibling with FAS
– Lived in an orphanage or been placed in foster care
– In psychiatric care
– Hx with CPS or the juvenile justice system
62
3 characteristic facial features of Fetal Alcohol Syndrome
1. Short palpebral fissures
2. Thin vermillion border
3. Smooth philtrum
63
Fetal Alcohol Syndrome management
* Early identification & intervention
* Behavioral therapy
– Individual & family
– Parent training
64
Fetal Hydantoin Syndrome
a characteristic pattern of mental and physical birth defects that results from maternal use of the anti-seizure (anticonvulsant) drug phenytoin (Dilantin) during pregnancy
65
Fetal hydantoin syndrome facial features
* Upturned nose
* Mild midfacial hypoplasia
* Long upper lip with thin vermilion border
Other:
B. Distal digital hypoplasia
66
ACE-Inhibitor Fetopathy
ACE-inhibitors cause fetal hypotension
67
Issue with Taking NSAIDS late in pregnancy
* Inhibit prostaglandin synthesis
* Taken late in pregnancy → ductus arteriosus closure & causes pulmonary hypertension
Avoid NSAID use in pregnancy!
68
Ionizing Radiation effect as a teratogen
– Tissue reaction to radiation are related to the dose
– The severity of the reaction ↑ as the dose ↑
– Adverse outcomes include:
– Abortion
– Growth restriction
– Congenital malformations
— Microcephaly
— Intellectual disability
69
Maternal metabolic diseases (Diabetes Mellitus) can cause these things in newborns
* Anencephaly
* Encephalocele
* Meningomyelocele
* Spina bifida
* Holoprosencephaly
* Transposition of the great vessels
* Cardiac defects (many)
