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Chromosomal defects

Down syndrome (trisomy 21)

Inc risk 35+ yo women
S/Sx
Sm round head w/ flatten occiput
*low set ears
Lg fat pads @nape of short neck
Protruding tongue
Sm mouth and high palate
*epicanthal folds w/ slanted eyes
Hypotonic m. w/ hypermobility of jts
*transverse simian palmar crease

Turner’s syndrome

Female w/ only 1x
Stunted growth
Fibrous streaks in ovaries
Infertile

Klinefetter’s syndrome

Male w/ extra x
Mild mental retardation
Infertile
****sex-linked transmission traits – usually the X chromosome

Phenylketonuria (PKU)
Dec liver enzyme phenylalanine hydroxylase = inc metabolite in bld -> toxic to brain cells

Tay-Sach’s Disease
Dec hexosaminidase
= apathy and regression in motor and social dev
Dec vision

Dx
Alpha fetal protein (AFP)_ – 16-18wks
Neural tube defects, threatened AB, fetal distress
Dec AFP = down syndrome
Chorionic villus sampling (CVS) – 8-12wks
Fetal karyotype, sickle-cell anemia, PKU, down syndrome, duchenne muscular dystrophy

Amniocentesis
After 16wk – genetic D/O
After 30wks – asses L/S ratio (lecithin/sphingomyelin) – lung maturity
Cts bladder should be emptied if after 20wks before procedure

Non-stress test (NST)
After 28wks
Favorable result is 2+ FHR accelerations of 15BPM lasting 15s over 20m interval