Lecture 6: Congenital Disorders Flashcards
What is neonatal abstinence syndrome (NAS)?
- 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
How do we screen for maternal substance use?
- If initial prenatal visit is sus, screen every trimester.
- Ask
- Determine route
- UDS is often used
How does anticonvulsant maternal use present?
- Small head
- Anteverted nares
- Cleft lip/palate
- Distal digital hypoplasia (phenytoin)
- Spina bifida (VPA)
How does retinoid/accutane maternal use present?
- Developmental toxicity
- CNS malformations
- CHD
- TEF (tracheoesophagus fistula)
- Small/absent ears
How does SSRI maternal use present?
- irritability/seizure
- Agitation, tremor, hypertonia
- Increased respirations, nasal congestion
- D/V, feeding difficulty
S/S of FAS (fetal alcohol syndrome)
> 3oz daily
- 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
How does Marijuana maternal use present?
- Increased risk of depression
- Hyperactivity, impulsivity, inattention, delinquency
ADHD symptoms
How does opiate maternal use present?
- Withdrawal
- LBW
- Prematurity
- IUGR
Why does benzo/barb maternal use take longer to present with withdrawal symptoms?
Long half-life, taking up to 2 weeks.
S/Sx of NAS
- High-pitched cry
- Jittery
- Tremors
- Convulsions
- Sweating/fever
- Mottling
- Excessive sucking/rooting
- Poor feeding
- V/D
When is NAS scored?
2 hrs after birth/admission
If over 8, do q2h
Pharmacologic tx for NAS
- Morphine or methadone (First-line)
- Phenobarbital to prevent seizure
- Fentanyl for analgesia
What are the live vaccines that cannot be taken during pregnancy?
- Flumist IN
- MMR
- Varicella
- HPV (under study)
What are the aneuploidies seen in pregnancy?
- Trisomies 13, 18, 21 (not inherited)
- Klinefelter (XXY)
- Turner (45 XO)
What are the two primary congenital autosomal dominant syndromes?
- Marfan’s
- Achondroplasia dwarfism
What are the congenital autosomal recessive disorders?
- CF
- PKU
What is the main congenital X-linked recessive disorder?
Fragile X syndrome
What screening blood tests are used to screen for aneuploidy?
Quadruple screening: beta-hCG, AFP, Inhibin A, estriol
Predictor
ACOG recommends all women should be offered early in pregnancy.
What diagnostic studies can check for aneuploidy?
- 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.
MC aneuploidy
Trisomy 21, Down syndrome
S/Sx of trisomy 21
- Normal birth wt
- Hypotonia
- Flattened occiput, nasal bridge
- Upslanting of palpebral fissures, epicanthal folds
- Large, protruding tongue
- Single palmar crease
- Cognitive delay
What are trisomy 21 babies more at risk for?
- CHD
- Thyroid
- GI anomalies (celiac)
- Polycythemia
- Leukemia
How does a quad screen present for a trisomy 21 baby?
- 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)
At what maternal age does trisomy 21 risk greatly increase?
Past age 35
Who is trisomy 18 MC in?
Females
Edward’s syndrome
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
What characterizes trisomy 13/Patau’s syndrome?
- Abnormality in every organ system
- Failure to thrive
- Cutis aplasia (missing section of skin on skull)
What is the MC genetic cause of hypogonadism and infertility in men?
Klinefelter syndrome (XXY)
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
How is Klinefelter syndrome treated?
TRT
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
Why is pregnancy dangerous for someone with turner syndrome?
High chance of aortic dissection due to high risk of coarctation
Tx for Turner’s syndrome
- Estrogen therapy
- Growth hormone
- Counseling
How is Marfan’s inherited?
Autosomal dominant
Fibrillin 1 gene mutation
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
What criteria is used to calculate a marfan score?
Ghent criteria
I think >= 7 means systemic
Tx for Marfan’s
- Serial ECHOs
- BBs to prevent aortic dissection growth to 5.5cm
- Losartan
- Frequent eye exams
- Restriction of strenuous exercise
What is the MC inherited cause of cognitive disability in males?
Fragile X syndrome
FMR1 gene
How does Fragile X/FRAX syndrome present?
- Intellectual disabilities
- Oblong face with large ears
- Large testis
- Hyperextensible joints
- MVP
Big balls small brain
Tx for FRAX
- Genetic counseling
- Behavioral therapy
- Psych, developmental specialists
No pharmacologics
How is Cystic fibrosis inherited?
Autosomal recessive mutation on Chromosome 7 CFTR
Primarily caucasians
What occurs in CF?
- Inability to move Na and Cl properly
- Mucus is much stickier and thicker, causing impaired permeability and clearance
- Chronic and progressive
- Increased salt content in sweat glands
Complications of CF
- Rhinitis
- High susceptibility to respiratory infections
- Ileus, volvulus, intussusception
- Infertility
- Digital clubbing
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.
How is CF confirmed?
- After newborns screening, positive sweat chloride test using pilocarpine
- Fecal elastase to measure pancreatic insufficiency
Pilocarpine makes you salivate
Tx for CF
- Pulmonology
- ID
- Genetics
- Pancreatic enzyme replacement therapy (PERT)
- ABX therapy
- Lung transplant
How is PKU inherited?
Autosomal recessive metabolic disease
What do PKU kids have to avoid?
- Anything with phenylalanine
- Have to go on a protein-restricted diet
- Avoid aspartame as well
When does cleft lip/palate occur physiologically?
Weeks 3-8
When is cleft palate diagnosed?
U/S on 2nd trimester
How is cleft palate prevented?
Folic acid and multivitamins
Hopefully
When can surgery be done for cleft lip and palate?
- Lip: 12m
- Palate: 18m
Where is the gene for DMD located?
Duchenne Muscular Dystrophy
DMD gene on X chromosome
Cannot make dystrophin at all.
X-linked recessive
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)
Prognosis and tx of DMD
- Death in 20s due to respiratory or cardiac failure
- Tx: corticosteroids to maintain strength
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
How is joint hypermobility scored?
Beighton scoring system
- Pinkies
- Thumbs
- Knees
- Elbows
- Spine
Max of 9
What is brighton criteria?
Uses beighton score + S/S
