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BOARD Exam > Week 3: Prenatal > Flashcards

Week 3: Prenatal Flashcards

1
Q

What do you use for carrier screening for hemoglobinopathies?

A

Hb Elect

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2
Q

Typical Hb Elect for sickle cell carrier

A

MCV < 80, presence of abnormal Hb- S, C, E

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3
Q

Typical Hb Elect for beta thal carrier

A

MCV <80, Low HbA, High HbA2

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4
Q

Typical Hb Elect for alpha thal carrier

A

MCV < 80, Normal Hb elect

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5
Q

What diseases does ACOG recommend carrier screening for, AJ couples

A

Tay Sachs, Canavan, Familial Dysautonomia, CF

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6
Q

What method do you use for carrier screening for Tay Sachs?

A

HEXA enzyme analysis

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7
Q

What method do you use for carrier screening for CF?

A

23 mutation panel

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8
Q

What method do you use for carrier screening for Fragile X?

A

Molecular analysis for CGG repeat expansion

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9
Q

Premutation carriers of Fragile X are at risk for?

A

POI, FXTAS

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10
Q

What method do you use for carrier screening for SMA?

A

Molecular

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11
Q

What is background risk for babies to be born with birth defect or developmental disability?

A

3-5%

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12
Q

Category A teratogen

A

Controlled studies in humans show no risk

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13
Q

Category B teratogen

A

Animal studies show no risk

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14
Q

Category C teratogen

A

Animal studies show a risk

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15
Q

Category D teratogen

A

Positive evidence of human fetal risk

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16
Q

Category X teratogen

A

Contraindicated in pregnancy

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17
Q

Thalidomide critical period

A

34-50 days post-LMP

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18
Q

Complications in fetus exposed to thalidomide

A

Limb reduction defects

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19
Q

Warfarin critical period

A

8-11 weeks post-LMP

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20
Q

Complications in fetus exposed to warfarin

A

Nasal hypoplasia, stippled epipheses, limb hypoplasia

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21
Q

ACE inhibitors critical period

A

2nd/3rd trimester

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22
Q

Complications in fetus exposed to ACE inhibitors

A

Renal tubular dysplasia– potter sequence–pulmonary hyoplasia, IUGR, hypocalvaria

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23
Q

Complications in fetus exposed to SSRIs

A

increased risk for CHD

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24
Q

Complications in fetus exposed to Ondansetron

A

increased risk for CHD

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25
Q

Complications in fetus exposed to Fluconazole

A

craniofacial, limb, cardiac anomalies

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26
Q

Complications in fetus exposed to valproic acid

A

Meningomyelocele, CHD, facial clefts, hypospadias, limb defects, craniosynostosis, facial features

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27
Q

Complications in fetus exposed to accutane

A

CNS anomalies, ear anomalies, CHD, thymus anomalies

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28
Q

Complications in fetus exposed to Benzodiazepines

A

Neonatal adaptation syndrome

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29
Q

Complications in fetus exposed to Maternal Diabetes

A

Macrosomia, CHD, NTDs, caudal regression, polyhydramnios,

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30
Q

Complications in fetus exposed to Maternal PKU

A

IUGR, microcephaly, DD/ID, CHD, facial differences

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31
Q

How many primary maternal CMV infections result in fetal infections?

A

30-50%

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32
Q

How many asymptomatic CMV infections in fetus are there

A

10-15%

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33
Q

Most common complication of fetal CMV infection

A

Hearing loss

34
Q

Complications in fetus exposed to alcohol

A

Growth restriction, CNS problems (ID, behaviour), Facial (short palebral fissures, smooth philtre, thin upper vermillion border)

35
Q

Why do some babies have complications when mom has codeine during breast feeding?

A

Mom are UM- CYP2D6

36
Q

Complications in fetus exposed to methyl mercury

A

Cerebral-palsy type symptoms

37
Q

What amount of radiation is the threshold for having problems?

38
Q

Complications in fetus exposed to radiation

A

Microcephaly, ID, seizures, growth restriction, minor anomalies of the eyes

39
Q

Pattern of Analytes in FTS for T21

A

Increased NT, increase hCG, decreased PAPP-A

40
Q

Pattern of Analytes in Quad Screen for T21

A

Decreased AFP, decreased uE3, increased hCG, increased inhibin A

41
Q

For normal women who seek prenatal care in first trimester, what type of aneuploidy screening should be offered?

A

Integrated screening

42
Q

At what GA can NIPS be used at?

43
Q

NIPS that uses SNPs cannot be used for what situations

A

Multiples, donor egg, consanguinity, organ transplant

44
Q

5 reasons for discordant results with NIPS

A

CPM, co-twin demise, maternal medical conditions, other fetal CNVs, lab error

45
Q

ACOG recommendations for NIPS

A

Only for high risk women

46
Q

CVS timing

A

11-13 weeks

47
Q

Amnio timin

A

16-22 weeks

48
Q

Risk of fetal loss with amnio or CVS

A

1/300 to 1/500

49
Q

When is prenatal microarray recommended?

A

Fetus with one or more structural anomalies, IUFD/stillbirth

50
Q

Microarray provided clinically significant results in pregnancies with AMA/positive screen over karyotype- how much

51
Q

Microarray provided clinically significant results in pregnancies with structural anomalies over karyotype- how much

52
Q

2 procedures for pregnancy termination in first trimester?

A

Medical Abortion, D+C

53
Q

2 procedures for pregnancy termination in second trimester?

A

D+E, Induction

54
Q

Complications in fetus exposed to heroin?

A

Strabismus, growth problems, neonatal withdrawal

55
Q

Complications in fetus exposed to methadone?

A

Strabismus, growth problems, neonatal withdrawal

56
Q

Complications in fetus exposed to Buprenorphrine

A

Neonatal withdrawal

57
Q

Complications in fetus exposed to cocaine

A

Intracranial hemorrhage, non duodenal intestinal atresia, limb reduction defects

58
Q

Complications in fetus exposed to lithium

A

Ebstein’s Anomaly

59
Q

Complications in fetus exposed to tetracycline

A

Defects of primary teeth

60
Q

Complications in fetus exposed to varicella

A

Scarring of skin, eye abnormalities, limb underdevelopment

61
Q

Complications in fetus exposed to Zika

A

Gullain-Barre Syndrome, microcephaly

62
Q

Complications in fetus exposed to lead

A

Neurobehavioral development problems

63
Q

Complications in fetus exposed to toluene

A

Microcephaly, growth problems, craniofacial anomalies

64
Q

NT measurement over what value is concerning?

65
Q

Increased NT can indicate what 3 things?

A

Aneuploidy, CHD, single gene disorder

66
Q

Intracardiac echogenic focus indicates increased risk for

67
Q

Pyelectasis on u/s indicates increased risk for

A

GU structural anomaly and T21

68
Q

Absent/hypoplastic nasal bone on u/s indicates increased risk for

69
Q

Fetal echogenic bowel indicates increased risk for

A

Aneuploidy, CF, fetal infection, bowel malformations

70
Q

Choroid plexus cyst indicates increased risk for

71
Q

Increased nuchal fold indicates increased risk for

A

T21, cardiac abnormalities, single gene disorders

72
Q

Lemon sign is associated with ?

A

Spina bifida

73
Q

Banana sign is associated with?

A

Spina bifida

74
Q

Strawberry sign is associated with?

75
Q

Which is more likely to be associated with chromosome abnormalities: omphalocele or gastroschisis?

A

Omphalocele

76
Q

Polydactyly is 10x more common in what ethnicity

A

African Americans

77
Q

What percent of infants exposed to thalidomide during the critical period have limb defects?`

78
Q

What is the incidence of CHD in the general population?

79
Q

What is the only FDA-approved medication for use of nausea and vomiting in pregnancy?

80
Q

The smallest amount of exposure to developing fetus is likely to be through this route of administration

81
Q

Which factors lead to the Founder effect?

A

Geographic isolation, heterozygote advantage

BOARD Exam (28 decks)

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