Reproductive Flashcards by Laura Engle

How many placentas and sacs for the following types of twins:
dichorionic/diamniotic
monochorionic/diamniotic
monochorionic/monoamniotic

Dichorionic//diamniotic (di/di) = 2 placentas and 2 sacs
Mono/di = one placenta and 2 sacs
Mono/mono = one placenta and one sac

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What type of twin pregnancy is the most risky?

monochorionic monoamniotic

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What percent of dichorionic diamniotic twins are mono or dizygotic?

monozygotic 10-20% dizygotic 80-90%

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What causes fused placentas for dizygotic twins?

When they implant close together

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What type of twin can be affected by twin-twin transfusion syndrome?

10-20% of monochorionic twins are affected

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What is the outcome of twin-twin transfusion syndrome?

in 80-100% mortality for at least one baby, outcome worse if <20 weeks

Recipient twin: polyhydramnios, cardiac enlargement/failure, hydrops
Donor twin: oligohydramnios, risk of organ failure, IUGR

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What is the order of Gs and Ps?

GPTAL:
Gestations
Preterm
Term
Abortions/miscarriages
Living children

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What weeks correspond with the pregnancy trimesters?

1st trimester
0-13w6d
2nd trimester
14w-27w6d
3rd trimester
28w- end

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What are the cardinal dysmorphic features of fetal alcohol syndrome?

short palpebral fissures, smooth philtrum, thin vermillion border

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What is associated with ACE inhibitor exposure?

Renal tubular dysplasia leading to oligohydramnios, Potter’s sequence, pulmonary hypoplasia

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What is the critical period for ACE inhibitor exposure in pregnancy?

Critical period: 2nd and 3rd trimesters

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What birth defects are associated with use of anti-convulsants in pregnancy?

Dysmorphic features: broad/depressed nasal bridge, short nose with anteverted nares, long philtrum, cupids bow lip, fingernail hypoplasia

Increased risk for major malformations (6-15% with certain)

Meningomyocele (valproic acid, carbamazepine), oral clefts (phenobarbital, phenytoin), CHD (phenobarbital), limb defects

Developmental delays

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What is associated with a rubella infection in pregnancy?

cataracts, deafness, cardiac

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What complications in pregnancy are associated with maternal diabetes?

pregnancy induced hypertension, pre-eclampasia, elevated liver enzymes, HELLP syndrome, C-section for fetal distress or size

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What is the pattern of serum screening findings for T18?

first tri: LOW PAPP-A, LOW hCG
second tri: LOW hCG, LOW AFP, LOW uE3

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What is the pattern of serum screening findings for T21?

first tri: LOW PAPP-A, HIGH hCG
second tri: HIGH iA, HIGH hCG, LOW AFP, LOW uE3

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What is a increased nuchal translucency associated with?

T21, 0X, T18, Noonan, CHD

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What are the recommendations for dx testing for aneuploidy after detection of a soft marker on US?

not recommended if following negative cfDNA

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What is the empiric risk in a FDR of someone with a CHD?

3-5% (gen population risk 1%)

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What is the empiric risk in a FDR of someone with a ONTD?

1-3% (gen population risk .1%)

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What is the most common congenital brain defect?

Agenesis of the corpus callosum

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What is the critical period for cleft lip/palate?

4-7 weeks GA

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Are male or female fetuses more likely to have a cleft lip? a cleft palate?

Males 2:1 cleft lip w or w/o cleft palate
females 2:1 isolated cleft palate

What is the critical period for a congenital diaphragmatic hernia?

6-10 weeks GA

What percent of CHD are due to chromosomal abnormalities? CNVs? single gene causes?

chromosomal abnormalities: 6% CNVs: 10% single gene causes: 12% (90% de novo)

Are ASDs and VSDs more common in males or females?

ASDs more common in females than males VSD more common in males than females

What is a blighted ovum?

gestational sac forms, but the embryo fails to develop

What type of work-up is performed for someone with recurrent pregnancy los?

anatomical (uterine eval with HSG or hysteroscopy) hormonal (prolactin, thyroid function, hemoglobin A1C), immune (antiphospholipid antibody syndrome) genetic (parental karyotypes)

What is the carrier frequency for CF in the following populations: caucasian, AJ, Hispanic, African, Asian ?

caucasian (1/25) AJ (1/24) Hispanic (1/58) African(1/61) Asian (1/94)

What is the carrier frequency for SMA in the following populations: caucasian, AJ, Hispanic, African, Asian ?

Caucasian (1/35) AJ (1/41) Hispanic (1/117) African (1/66) Asian (1/53)

What populations have a high carrier frequency for alpha thal, and what are they?

African: 1/3 Mediterranean: 1/30 SE Asian/Mid east: 1/20

What populations have a high carrier frequency for beta thal, and what are they?

African: <1/8 Asian: 1/20 SE Asian/mid east: 1/7

What is the carrier frequency of sickle cell disease in the African population?

1/10

What is the fetal component of NIPS? (%)

3-13%

What exposure is associated with Ebstein's anomaly?

Lithium

What does high dose exposure of fluconazole look like a phenocopy of?

Antley Bixler

What teratogenic exposure is associated with porencephaly?

cocaine

What teratogenic exposure is associated with preterm delivery, IUGR, clefts?

nicotine

What teratogenic exposure is associated with clefts, CNS, cardiac, microtia, thymic hypoplasia?

isoretinoin

What teratogenic exposure is associated with NTD And clefts?

valproate

What teratogenic exposure is associated with Ebstein's anomaly?

lithium

What teratogenic exposure is associated with tooth discoloration?

tetracycline

What teratogenic exposure is associated with cataracts, cardiac defects, and deafness?

rubella infection

What teratogenic exposure is associated with intracranial calcifications and seizures?

toxoplasmosis infection

What teratogenic exposure is associated with periventricular calcifications, seizures, hearing loss, blueberry muffin rash, and chorioretininis?

CMV infection

What teratogenic exposure is associated with hydrocephalus, short limbs, and linear scarring?

varicella infection

What teratogenic exposure is associated with sacral agenesis, caudal regression, transposition of the great arteries?

insulin dependent diabetes

What is the affect of gestational diabetes on the fetus?

macrosomia, hypoglycemia

What is the effect of early vs later high radiation exposure in pregnancy?

early- failure to implant after implantation- cognitive, growth

What teratogenic exposure is associated with renal tubular dysplasia/ Potter's sequence?

ACE inhibitors

During what period of gestation is there most concern for major structural defects of the heart? When does the heart fully finish forming?

3-7 weeks GA finished forming by week 12

During what period of gestation is there most concern for major structural defects of the limbs? When do the limbs fully finish forming?

3-7 weeks GA finished forming by week 12

During what period of gestation is there most concern for major structural defects of the ears? When do the ears fully finish forming?

4-12 weeks GA finish forming ~ week 22

During what period of gestation is there most concern for major structural defects of the eyes? When do the eyes fully finish forming?

4-8 weeks GA finish forming throughout pregnancy

During what period of gestation is there most concern for major structural defects of the palate? When does the palate fully finish forming?

6-12 weeks GA finish forming ~week 14

During what period of gestation is there most concern for major structural defects of the external genitalia? When does the external genitalia fully finish forming?

7-12 weeks GA finish forming throughout pregnancy

During what period of gestation is there most concern for major structural defects of the CNS? When does the CNS fully finish forming?

3-20 weeks GA finish forming throughout pregnancy later exposures can cause delays/ learning problems