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Flashcards in prenatal genetics Deck (12):
1

most common human chromosome disorder

Aneuploidy

1

tetinoic acid risks

isotretinoin use (accutane)

CNS abnormaliites

craniofacial anls

heart defect

cognitive deficiencies

excreted in breast milkk (low levels)

2

valproic acid risk

oral anticonvulsant medsn

nerual tube defects

oral cleft + craniofacial abnls

heart defect

cognitive def

excreted in breast milk

3

trisomy 13 patau syndrome

psycho motor delay

microopthalmia

polydacyly

oral clefting

holoprosencephaly

heart malformations

diaphragmatic hernia

3

monosomy X turner 

growth retardation

only 5% experience spontaneous menstruation

hearing loss

cognitive disabilities

heart malformation

horshoe kidneys+ other renal

5

Trisomy 18 (Edwards syndrome

severe psychomotor delay

growth restictio, microcephaly, micrgnathia

distinctive hand/finuer posturing + rocker bottom fet

heart anmalies, ompahlocele, oral clefting, club foot

6

digynic vs diandric trilploidy

digynic -  from mother, usually small flacenta with growth restriction, typically aborted earlyi n pregnacy

 

diandric - paternal origin, enlarged placenta with no restriction. Partial hydatidiform mole. Maternal risk of preeclampsia, hyperthryoidism, theca lutein cysts, and GTD

8

aneuploid =

deviation not involving exact multiple of haploid number (n=23)

9

Robertsonian translocation

short arms (p) of two chromosomes lost and long arms (q) remain)

10

XXY klinefelter

tall lean build

infertiilty 

delayed motor and language

 possible cognitive disability

ncreased risk of extranodal germ cell tumors

male breast cancer, autoimmune

11

fragile X syndrome presentation

mild- profound retardation

behavioralabnls  / austitic tendencies

macrocephaly + sublte facies

risk premature ovariant fai,ure

risk adult onset cerebellar ataxia + intention tremors

12

SSRI risk

cardiac malfomrations

nerual tube defects

relative risk may be low, but adverse effects possible during third trimester use in neonates (withdrawal symptoms)