Lecture 6: Congenital Disorders Flashcards
1
Q
What is neonatal abstinence syndrome (NAS)?
A
- Maternal use of addictive substances while pregnant
- Fetus is born with S/S of withdrawal from that substance, as they get used to it.
Common with opioids
2
Q
How do we screen for maternal substance use?
A
- If initial prenatal visit is sus, screen every trimester.
- Ask
- Determine route
- UDS is often used
3
Q
How is NAS scored?
A
- Finnegan NAS score
- High pitched cry
- Sleep
- Moro reflex
4
Q
How does anticonvulsant maternal use present?
A
- Small head
- Anteverted nares
- Cleft lip/palate
- Distal digital hypoplasia (phenytoin)
- Spina bifida (VPA)
5
Q
How does retinoid/accutane maternal use present?
A
- Developmental toxicity
- CNS malformations
- CHD
- TEF (tracheoesophagus fistula)
- Small/absent ears
6
Q
How does SSRI maternal use present?
A
- irritability/seizure
- Agitation, tremor, hypertonia
- Increased respirations, nasal congestion
- D/V, feeding difficulty
7
Q
S/S of FAS (fetal alcohol syndrome)
> 3oz daily
A
- Short
- Poor head growth
- Developmental delay
- Midface hypoplasia
- Poorly developed philtrum, thin upper lip, narrow palpebral fissures, short nose, anteverted nostrils
- Cardiac anomalies, NTD, genital abnormalities
- Neurobehavioral issues
8
Q
How does Marijuana maternal use present?
A
- Increased risk of depression
- Hyperactivity, impulsivity, inattention, delinquency
ADHD symptoms
9
Q
How does opiate maternal use present?
A
- Withdrawal
- LBW
- Prematurity
- IUGR
10
Q
Why does benzo/barb maternal use take longer to present with withdrawal symptoms?
A
Long half-life, taking up to 2 weeks.
11
Q
S/Sx of NAS
A
- High-pitched cry
- Jittery
- Tremors
- Convulsions
- Sweating/fever
- Mottling
- Excessive sucking/rooting
- Poor feeding
- V/D
12
Q
When is NAS scored?
A
2 hrs after birth/admission
If over score is over 8, do q2h
13
Q
Pharmacologic tx for NAS
A
- Morphine or methadone (First-line)
- Phenobarbital to prevent seizure
- Fentanyl for analgesia
14
Q
What are the live vaccines that cannot be taken during pregnancy?
A
- Flumist IN
- MMR
- Varicella
- HPV (under study)
15
Q
What are the aneuploidies seen in pregnancy?
A
- Trisomies 13, 18, 21 (not inherited)
- Klinefelter (XXY)
- Turner (45 XO)
16
Q
What are the two primary congenital autosomal dominant syndromes?
A
- Marfan’s
- Achondroplasia dwarfism
17
Q
What are the congenital autosomal recessive disorders?
A
- CF
- PKU
18
Q
What is the main congenital X-linked recessive disorder?
A
Fragile X syndrome
19
Q
What screening blood tests are used to screen for aneuploidy?
A
Quadruple screening: beta-hCG, AFP, Inhibin A, estriol
Predictor
ACOG recommends all women should be offered early in pregnancy.
20
Q
What diagnostic studies can check for aneuploidy?
A
- Choroid villus sampling (CVS)
- Amniocentesis
CVS can be done earlier than amnio
ACOG recommends this option be offered also in place of blood tests regardless of age.
21
Q
MC aneuploidy
A
Trisomy 21, Down syndrome
22
Q
S/Sx of trisomy 21
A
- Normal birth wt
- Hypotonia
- Flattened occiput, nasal bridge
- Upslanting of palpebral fissures, epicanthal folds
- Large, protruding tongue
- Single palmar crease
- Cognitive delay
23
Q
What are trisomy 21 babies more at risk for?
A
- CHD
- Thyroid
- GI anomalies (celiac)
- Polycythemia
- Leukemia
24
Q
How does a quad screen present for a trisomy 21 baby?
A
- AFP is low in half of all trisomies
- Unconjugated estriol (low)
- Elevated inhibin A
- Elevated hCG
HIgh is high! (hCG and Inhibin A are high)
25
At what maternal age does trisomy 21 risk greatly increase?
Past age 35
26
Who is trisomy 18 MC in?
Females
| Edward's syndrome
27
What are the S/S of trisomy 18/Edward's syndrome
* **95% have cardiac defects**
* **clenched fists**
* LBW
* Kidney
* Rounded feet
* Small
| **Very poor prognosis, most die by age 1**
28
What characterizes trisomy 13/Patau's syndrome?
* Abnormality in every organ system
* **Failure to thrive**
* Cutis aplasia (missing section of skin on skull)
29
What is the MC genetic cause of hypogonadism and infertility in men?
Klinefelter syndrome (XXY)
30
How does Klinefelter syndrome present?
* Gynecomastia
* Tall thin
* Normal pubic hair but gonadal dysgenesis
* Normal to low IQ
* Usually infertile
| Infantile testicular volume is usually when it is suspected
31
How is Klinefelter syndrome treated?
TRT
32
How does turner syndrome present?
* Low-set malformed ears, flattened nasal bridge
* Triangle facies
* **Webbed neck**
* Shield chest
* Aortic valve defects, **coarc**
* Horseshoe kidney
* Short
* **Infertile**
| Extremely high rate of miscarriage
33
Why is pregnancy dangerous for someone with turner syndrome?
**High chance of aortic dissection** due to high risk of coarctation
34
Tx for Turner's syndrome
* Estrogen therapy
* Growth hormone
* Counseling
35
How is Marfan's inherited?
Autosomal dominant
| Fibrillin 1 gene mutation
36
What are the S/Sx of Marfan's?
* Cardiac: **dilation of aortic root**, dysrhythmias
* **Tall and thin**
* **Pectus excavatum/carinatum**
* Scolioisis
* Pes planus (flat footed)
* Joint laxity
* Dislocated lens
* **Cataracts**
* Down-slant palpebral fissures
37
What criteria is used to calculate a marfan score?
Ghent criteria
| I think >= 7 means systemic
38
Tx for Marfan's
* Serial ECHOs
* **BBs to prevent aortic dissection growth to 5.5cm**
* **Losartan**
* Frequent **eye exams**
* Restriction of strenuous exercise
39
What is the MC inherited cause of cognitive disability in males?
Fragile X syndrome
| FMR1 gene
40
How does Fragile X/FRAX syndrome present?
* **Intellectual disabilities**
* **Oblong face with large ears**
* Large testis
* Hyperextensible joints
* MVP
| Big balls small brain
41
Tx for FRAX
* Genetic counseling
* Behavioral therapy
* Psych, developmental specialists
| No pharmacologics
42
How is Cystic fibrosis inherited?
Autosomal recessive mutation on **Chromosome 7 CFTR**
| Primarily caucasians
43
What occurs in CF?
1. Inability to move Na and Cl properly
2. **Mucus is much stickier and thicker, causing impaired permeability and clearance**
3. Chronic and progressive
4. **Increased salt content** in sweat glands
44
Complications of CF
* Rhinitis
* **High susceptibility to respiratory infections**
* Ileus, volvulus, intussusception
* Infertility
* **Digital clubbing**
45
Why is colonization of the airway so common in CF?
Inability to clear lungs due to their mucus, so they **retain pathogens indefinitely.**
| MRSA and pseudomonas are especially dangerous to them.
46
How is CF confirmed?
* After newborns screening, **positive sweat chloride test using pilocarpine**
* **Fecal elastase** to measure pancreatic insufficiency
| Pilocarpine makes you salivate
47
Tx for CF
* Pulmonology
* ID
* Genetics
* **Pancreatic enzyme replacement therapy** (PERT)
* ABX therapy
* **Lung transplant**
48
How is PKU inherited?
Autosomal recessive metabolic disease
49
What do PKU kids have to avoid?
* Anything with **phenylalanine**
* Have to go on a **protein-restricted diet**
* Avoid aspartame as well
50
When does cleft lip/palate occur physiologically?
Weeks 3-8
51
When is cleft palate diagnosed?
U/S on **2nd trimester**
52
How is cleft palate prevented?
**Folic acid** and multivitamins
| Hopefully
53
When can surgery be done for cleft lip and palate?
* Lip: 12m
* Palate: 18m
54
Where is the gene for DMD located?
| Duchenne Muscular Dystrophy
DMD gene on **X chromosome**
| Cannot make dystrophin at all.
## Footnote
X-linked recessive
55
S/S of Duchenne MD
* **Proximal muscle weakness**
* Serum **CK is markedly elevated**
* **Calf hypertrophy** due to increased fat.
* **Pointing of toes**
* **Gowers sign** (use hands to get up, rather than feet)
56
Prognosis and tx of DMD
* **Death in 20s** due to respiratory or cardiac failure
* Tx: **corticosteroids** to maintain strength
57
What characterizes Ehler's Danlos Syndrome (EDS)?
* Collagen and CT synthesis and structure
* **Joint hypermobility**, cutaneous fragility, **hyperextensibility**
* **Aortic aneurysms**, valvular prolapse, or spontaneous pneumothorax
| a CT disorder like Marfans
58
How is joint hypermobility scored?
Beighton scoring system
1. Pinkies
2. Thumbs
3. Knees
4. Elbows
5. Spine
| Max of 9
59
What is brighton criteria?
Uses beighton score + S/S
