prenatal genetics Flashcards
most common human chromosome disorder
Aneuploidy
tetinoic acid risks
isotretinoin use (accutane)
CNS abnormaliites
craniofacial anls
heart defect
cognitive deficiencies
excreted in breast milkk (low levels)
valproic acid risk
oral anticonvulsant medsn
nerual tube defects
oral cleft + craniofacial abnls
heart defect
cognitive def
excreted in breast milk
trisomy 13 patau syndrome
psycho motor delay
microopthalmia
polydacyly
oral clefting
holoprosencephaly
heart malformations
diaphragmatic hernia
monosomy X turner
growth retardation
only 5% experience spontaneous menstruation
hearing loss
cognitive disabilities
heart malformation
horshoe kidneys+ other renal
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
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
aneuploid =
deviation not involving exact multiple of haploid number (n=23)
Robertsonian translocation
short arms (p) of two chromosomes lost and long arms (q) remain)
XXY klinefelter
tall lean build
infertiilty
delayed motor and language
possible cognitive disability
ncreased risk of extranodal germ cell tumors
male breast cancer, autoimmune
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
SSRI risk
cardiac malfomrations
nerual tube defects
relative risk may be low, but adverse effects possible during third trimester use in neonates (withdrawal symptoms)
