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32 Cards in this Set
- Front
- Back
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Bloom Syndrome
Canavan Disease |
autosomal recessive, Jewish population
Bloom - chromosome breakage, growth deficiency, skin findings, ?mental retardation, death age 27 2/2 cancer Canavan disease - CNS, dev delay, hypotonia, blindness, GI reflux, seizures, die first few years |
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Familial dysautonoma
Fanconi Anemia Grp C |
autosomal recessive Jewish
Fam.Dys- abnl suck, feeding deficits, episodic vomiting, temperature and BP instabiolity Fanconi C - severe anemia, dev delay, failure to thrive. sometimes microcephaly, MR, incr risk leukemia |
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Gaucher
Mucolipidosis |
Gaucher - chronic fatigue, easy bruising, enlarged liver/spleen
Mucolipidosis- lysosomal storage d/o growth/psychomotor retardation, corneal clouding, never speak or develop beyond age 1-2 AR Jewish |
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Niemann Pick
Tay-Sachs |
Nieman-Pick: lysosomal storage, neurodegenerative
Tay-Sachs: severe, progressive CNS d/o, appear nl at birth by by age 5-6 mos develop poor tone, MR, fatal by age 6 AR Jewish |
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What is the criteria for carrier testing for thalassemia?
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MCV <79 if iron studies normal or no response to iron
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How can one diagnose Beta Thalassemia?
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excess alpha changes join with gamma chains to make HbA2 level >/= 3.5%
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Diagnose alpha thal?
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Can't determine with Hb electrophoresis (reduced nl HbA, no excess byproduct). Molecular genetic testing in pts with low MCV, nl iron studies, nl Hb electrophoresis
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What is the carrier frequency for cystic fibrosis?
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Northern European Caucasian: 1:22
Ashkenazi Jew: 1:24 AfAm: 1:65, Hisp 1:46, AA 1:94 |
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What does the current CF screen tell you?
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Screens for panel of 23 mose common CF mutations. If known mutation in family, do genetic testing for that mutation.
Negative result -> reduces risk from 1:22 to 1:246 (some CF mutations are missed by screen) |
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Who should be screened for Fragile X?
Why are females not affected? |
Women with fam h/o of fragile X or unexplained MR or autism. females have a normal second FMR1 gene on their other X chromosome so not sx.
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Components of quad screen/second tri screen?
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AFP, inhibin, bHCG, estriol
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Components of serum first tri screen?
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free (intact) bHCG, PAPP-A
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How to counsel patients with increased NT (>3.5 mm) and nl karyotype?
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Incr risk cardiac defects, abdominal wall defect, diaphragmatic hernia, or genetic syndrome -> targeted sono or fetal echo
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What are the 5 ultrasound signs for spina bifida?
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1. lemon sign (frontal scalloping or notching)
2. obliteration post fossa 3. Banana sign (chiari deformation) 4. ventriculomegaly 5. small BPD |
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What structural defects on ultrasound merit amniocentesis?
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involvement of one major organ or two minor structural abnl (choroid plexus cyst, single UA)
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What is the risk of aneuploidy with omphalacele? with gastroschisis?
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Omphalacele 30-40%
Gastroschisis: minimal |
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Abnormalities with a high (>50%) risk of aneuploidy
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Cystic hygroma (75%), Hydrops (80%), holoprosencephaly (60%)
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When to offer traditional amniocentesis?
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14 weeks to 20 weeks
(earlier not recommended due to 3-4x elev SAB risk, positional foot deformities, increased RDS) |
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What is the utility of FISH?
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traditional amniocyte culture takes 8 days. FISH offers quick DNA probe to r/o common aneuploidies
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When to offer CVS?
Risk of SAB with CVS or amnio? |
10 weeks+
1 in 100 to 1 in 200 |
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What is the inheritance pattern for congenital adrenal hyperplasia?
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Autosomal Recessive
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A woman had a prior child with CAH. She is now pregnant again. What should be done?
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1. Initiate maternal PO dexamethasone after confirmation of pregnancy (suppress fetal adrenal axis during genital development).
2. maternal blood sample for fetal free DNA 8-10 wks gestation --> if male fetus, d/c steroids --> if female, continue until CVS 10-12 weeks can determine if fetus affected. If affected, continue until term with stress dose steroids at term. |
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Fetus is born with ambiguous genitalia. CAH is suspected. What should be done?
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Fetal DNA testing and 17-OH assay. Start empiric hydrocortisone and fluorinated steroids.
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What are causes of fetal goiter or hypothyroidism?
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overdosing PTU or methimazole.
dysgenesis of thyroid or enzymatic defects. |
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What should be done if a fetal goiter is noted?
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Cordocentesis to determine free T4 and thyrotropin levels. Intra-amniotic injections of T4.
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Patient with Graves has an elevated TSI (throid stimulating antibody) level. What should be done?
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fetal cordocentesis at 20-24 weeks , if fetus hyperthyroid can initiate maternal PTU
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Within how many weeks of Rhogam administration is it ok to not redose with delivery or another procedure?
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within 3 weeks
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What is the critical titer for serum anti-D ab levels? for anti kell?
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16 for anti-D, 8 for anti-kell
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What should be done once a critical titer for rh-D is reached?
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referral to MFM, free fetal DNA to determine fetal Rh status. If antigen positive, MCA doppler q1-2 weeks. If >1.5 MOM, IUT.
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A woman has a history of a prior sensitized pregnancy for rhD with need for IUT previously. What should be done in her subsequent pregnancy?
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No need for titers --> go straight to MCA dopplers at 18 wks gestation if fetus D+
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What is stage I TTTS? Stage 2, 3, 4, 5?
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Stage I - poly-oli(>8 DVP <20s, >10 DVP >20 wk), <2
Stage 2 - donor bladder absent stage 3 - abnl dopplers Stage 4 - ascites, pleural effusions, scalp edema, or hydrops in 1 or 2 twins Stage 5 - one or both twins dead |
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Who gets laser for TTTS?
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Stage II disease or severely sx hydramnios in stage I at <27 weeks. After 27 weeks amnioreduction or septostomy is tx of choice.
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