INDS 211 Lecture Notes - Lecture 41: Congenital Heart Defect, Aplasia Cutis Congenita, Duodenal Atresia
2 Jan 2019
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Review of chromosome abnormalities: trisomy 21 down syndrome (47: xx/xy+21, trisomy 18 (47: xx/xy+18, features: overlapping fingers, rockerbottom feet, growth retardation & developmental delay/id (severe), *infertility: turner syndrome (45: x, features: characteristic facial features, web of skin at the neck, coarctation of aorta, poor breast development, under-developed ovaries, short stature, Late 1980s 2nd semester screening: median [ ]s of certain fetoplacental products present in maternal circulation at 16 weeks in down syndrome. Indications for referral: abnormal (positive) results of maternal screening for trisomy 21,18,13 fetuses sufficiently different to predict increased risk: 1 by u/s in ds fetuses sufficiently different to predict: 20-30% have adverse pregnancy outcome (fetal demise, preterm delivery, low birth weight) Ds (~ 2. 2 mom) inhibin-a: 94%** detection rate for 5% fp rate - even better. Increased afp: assoc. with open neural tube defects, can detect ~85% of cases: 1st trimester: nt, papp-a (hold results, 2nd trimester: various combinations of afp, ue3, hcg,
