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Genetic Counseling Boards Prep 2023 > Reproductive > Flashcards

Reproductive Flashcards

1
Q

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

A

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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2
Q

What type of twin pregnancy is the most risky?

A

monochorionic monoamniotic

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3
Q

What percent of dichorionic diamniotic twins are mono or dizygotic?

A

monozygotic 10-20% dizygotic 80-90%

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4
Q

What causes fused placentas for dizygotic twins?

A

When they implant close together

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5
Q

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

A

10-20% of monochorionic twins are affected

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6
Q

What is the outcome of twin-twin transfusion syndrome?

A

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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7
Q

What is the order of Gs and Ps?

A

GPTAL:
Gestations
Preterm
Term
Abortions/miscarriages
Living children

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8
Q

What weeks correspond with the pregnancy trimesters?

A

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

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9
Q

What are the cardinal dysmorphic features of fetal alcohol syndrome?

A

short palpebral fissures, smooth philtrum, thin vermillion border

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10
Q

What is associated with ACE inhibitor exposure?

A

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

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11
Q

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

A

Critical period: 2nd and 3rd trimesters

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12
Q

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

A

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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13
Q

What is associated with a rubella infection in pregnancy?

A

cataracts, deafness, cardiac

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14
Q

What complications in pregnancy are associated with maternal diabetes?

A

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

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15
Q

What is the pattern of serum screening findings for T18?

A

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

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16
Q

What is the pattern of serum screening findings for T21?

A

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

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17
Q

What is a increased nuchal translucency associated with?

A

T21, 0X, T18, Noonan, CHD

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18
Q

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

A

not recommended if following negative cfDNA

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19
Q

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

A

3-5% (gen population risk 1%)

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20
Q

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

A

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

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21
Q

What is the most common congenital brain defect?

A

Agenesis of the corpus callosum

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22
Q

What is the critical period for cleft lip/palate?

A

4-7 weeks GA

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23
Q

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

A

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

24
Q

What is the critical period for a congenital diaphragmatic hernia?

A

6-10 weeks GA

25
Q

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

A

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

26
Q

Are ASDs and VSDs more common in males or females?

A

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

27
Q

What is a blighted ovum?

A

gestational sac forms, but the embryo fails to develop

28
Q

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

A

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

29
Q

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

A

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

30
Q

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

A

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

31
Q

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

A

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

32
Q

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

A

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

33
Q

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

A

1/10

34
Q

What is the fetal component of NIPS? (%)

A

3-13%

35
Q

What exposure is associated with Ebstein’s anomaly?

A

Lithium

36
Q

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

A

Antley Bixler

37
Q

What teratogenic exposure is associated with porencephaly?

A

cocaine

38
Q

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

A

nicotine

39
Q

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

A

isoretinoin

40
Q

What teratogenic exposure is associated with NTD And clefts?

A

valproate

41
Q

What teratogenic exposure is associated with Ebstein’s anomaly?

A

lithium

42
Q

What teratogenic exposure is associated with tooth discoloration?

A

tetracycline

43
Q

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

A

rubella infection

44
Q

What teratogenic exposure is associated with intracranial calcifications and seizures?

A

toxoplasmosis infection

45
Q

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

A

CMV infection

46
Q

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

A

varicella infection

47
Q

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

A

insulin dependent diabetes

48
Q

What is the affect of gestational diabetes on the fetus?

A

macrosomia, hypoglycemia

49
Q

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

A

early- failure to implant
after implantation- cognitive, growth

50
Q

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

A

ACE inhibitors

51
Q

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

A

3-7 weeks GA

finished forming by week 12

52
Q

During what period of gestation is there most concern for major structural defects of the limbs?

When do the limbs fully finish forming?

A

3-7 weeks GA

finished forming by week 12

53
Q

During what period of gestation is there most concern for major structural defects of the ears?

When do the ears fully finish forming?

A

4-12 weeks GA

finish forming ~ week 22

54
Q

During what period of gestation is there most concern for major structural defects of the eyes?

When do the eyes fully finish forming?

A

4-8 weeks GA

finish forming throughout pregnancy

55
Q

During what period of gestation is there most concern for major structural defects of the palate?

When does the palate fully finish forming?

A

6-12 weeks GA

finish forming ~week 14

56
Q

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?

A

7-12 weeks GA

finish forming throughout pregnancy

57
Q

During what period of gestation is there most concern for major structural defects of the CNS?

When does the CNS fully finish forming?

A

3-20 weeks GA

finish forming throughout pregnancy
later exposures can cause delays/ learning problems

Genetic Counseling Boards Prep 2023 (13 decks)

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