Week 3: Prenatal Flashcards by Amy Donahue

What do you use for carrier screening for hemoglobinopathies?

Hb Elect

How well did you know this?

Not at all

Perfectly

Typical Hb Elect for sickle cell carrier

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

How well did you know this?

Not at all

Perfectly

Typical Hb Elect for beta thal carrier

MCV <80, Low HbA, High HbA2

How well did you know this?

Not at all

Perfectly

Typical Hb Elect for alpha thal carrier

MCV < 80, Normal Hb elect

How well did you know this?

Not at all

Perfectly

What diseases does ACOG recommend carrier screening for, AJ couples

Tay Sachs, Canavan, Familial Dysautonomia, CF

How well did you know this?

Not at all

Perfectly

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

HEXA enzyme analysis

How well did you know this?

Not at all

Perfectly

What method do you use for carrier screening for CF?

23 mutation panel

How well did you know this?

Not at all

Perfectly

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

Molecular analysis for CGG repeat expansion

How well did you know this?

Not at all

Perfectly

Premutation carriers of Fragile X are at risk for?

POI, FXTAS

How well did you know this?

Not at all

Perfectly

What method do you use for carrier screening for SMA?

Molecular

How well did you know this?

Not at all

Perfectly

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

3-5%

How well did you know this?

Not at all

Perfectly

Category A teratogen

Controlled studies in humans show no risk

How well did you know this?

Not at all

Perfectly

Category B teratogen

Animal studies show no risk

How well did you know this?

Not at all

Perfectly

Category C teratogen

Animal studies show a risk

How well did you know this?

Not at all

Perfectly

Category D teratogen

Positive evidence of human fetal risk

How well did you know this?

Not at all

Perfectly

Category X teratogen

Contraindicated in pregnancy

How well did you know this?

Not at all

Perfectly

Thalidomide critical period

34-50 days post-LMP

How well did you know this?

Not at all

Perfectly

Complications in fetus exposed to thalidomide

Limb reduction defects

How well did you know this?

Not at all

Perfectly

Warfarin critical period

8-11 weeks post-LMP

How well did you know this?

Not at all

Perfectly

Complications in fetus exposed to warfarin

Nasal hypoplasia, stippled epipheses, limb hypoplasia

How well did you know this?

Not at all

Perfectly

ACE inhibitors critical period

2nd/3rd trimester

How well did you know this?

Not at all

Perfectly

Complications in fetus exposed to ACE inhibitors

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

How well did you know this?

Not at all

Perfectly

Complications in fetus exposed to SSRIs

increased risk for CHD

How well did you know this?

Not at all

Perfectly

Complications in fetus exposed to Ondansetron

increased risk for CHD

How well did you know this?

Not at all

Perfectly

Complications in fetus exposed to Fluconazole

craniofacial, limb, cardiac anomalies

Complications in fetus exposed to valproic acid

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

Complications in fetus exposed to accutane

CNS anomalies, ear anomalies, CHD, thymus anomalies

Complications in fetus exposed to Benzodiazepines

Neonatal adaptation syndrome

Complications in fetus exposed to Maternal Diabetes

Macrosomia, CHD, NTDs, caudal regression, polyhydramnios,

Complications in fetus exposed to Maternal PKU

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

How many primary maternal CMV infections result in fetal infections?

30-50%

How many asymptomatic CMV infections in fetus are there

10-15%

Most common complication of fetal CMV infection

Hearing loss

Complications in fetus exposed to alcohol

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

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

Mom are UM- CYP2D6

Complications in fetus exposed to methyl mercury

Cerebral-palsy type symptoms

What amount of radiation is the threshold for having problems?

> 5 rads

Complications in fetus exposed to radiation

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

Pattern of Analytes in FTS for T21

Increased NT, increase hCG, decreased PAPP-A

Pattern of Analytes in Quad Screen for T21

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

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

Integrated screening

At what GA can NIPS be used at?

10 weeks

NIPS that uses SNPs cannot be used for what situations

Multiples, donor egg, consanguinity, organ transplant

5 reasons for discordant results with NIPS

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

ACOG recommendations for NIPS

Only for high risk women

CVS timing

11-13 weeks

Amnio timin

16-22 weeks

Risk of fetal loss with amnio or CVS

1/300 to 1/500

When is prenatal microarray recommended?

Fetus with one or more structural anomalies, IUFD/stillbirth

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

1.7%

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

2 procedures for pregnancy termination in first trimester?

Medical Abortion, D+C

2 procedures for pregnancy termination in second trimester?

D+E, Induction

Complications in fetus exposed to heroin?

Strabismus, growth problems, neonatal withdrawal

Complications in fetus exposed to methadone?

Strabismus, growth problems, neonatal withdrawal

Complications in fetus exposed to Buprenorphrine

Neonatal withdrawal

Complications in fetus exposed to cocaine

Intracranial hemorrhage, non duodenal intestinal atresia, limb reduction defects

Complications in fetus exposed to lithium

Ebstein's Anomaly

Complications in fetus exposed to tetracycline

Defects of primary teeth

Complications in fetus exposed to varicella

Scarring of skin, eye abnormalities, limb underdevelopment

Complications in fetus exposed to Zika

Gullain-Barre Syndrome, microcephaly

Complications in fetus exposed to lead

Neurobehavioral development problems

Complications in fetus exposed to toluene

Microcephaly, growth problems, craniofacial anomalies

NT measurement over what value is concerning?

3 mm

Increased NT can indicate what 3 things?

Aneuploidy, CHD, single gene disorder

Intracardiac echogenic focus indicates increased risk for

T21

Pyelectasis on u/s indicates increased risk for

GU structural anomaly and T21

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

T21

Fetal echogenic bowel indicates increased risk for

Aneuploidy, CF, fetal infection, bowel malformations

Choroid plexus cyst indicates increased risk for

T18

Increased nuchal fold indicates increased risk for

T21, cardiac abnormalities, single gene disorders

Lemon sign is associated with ?

Spina bifida

Banana sign is associated with?

Spina bifida

Strawberry sign is associated with?

T18

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

Omphalocele

Polydactyly is 10x more common in what ethnicity

African Americans

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

20%

What is the incidence of CHD in the general population?

1/100

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

Diclegis

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

Topical

Which factors lead to the Founder effect?

Geographic isolation, heterozygote advantage

Brainscape's Knowledge GenomeTM

Week 3: Prenatal Flashcards

Brainscape's Knowledge Genome^TM