ob chromosome abnormalities

any deviation from the diploid chromosomes (aka + or - from the normal 46)

aneuploidy

turner’s syndrome sex chromosome

x

T 13 aka, T 18 aka, T 21 aka

patau, edward, down

triploidy: paternal molar, maternal molar (comp. vs partial)

complete, partial

top cause of 1st trimester spontaneous abortions

chromosomal abnormalities

indications for. chromosome analysis (3)

advanced maternal age, previous child with syndrome, defect in a parent

biochemical markers: taken at weeks …-…, except …, which is taken at weeks …-…

16, 18, pappa, 11, 14

pappa stands for, inc./dec. in cases of T21

pregnancy associated plasma protein, decreased

quad bio marker test: which are decreased with chromo abn.; which are increased

afp. estriol; hcg, inhibin a

noninvasive prenatal testing (NIPT) / prenatal cell free dna: tests the mother’s …, screens for (3), performed if (4)

blood, trisomies, gender, rh, 35 or older, abnormal quad test, abnormality on ultrasound, history of chromosomal abnormality

T 21: ultrasound features (4 head, 1 neck, 2 thoracic, 1 abdominal, 3 limbs), non ultrasound features (2)

brachycephaly, choroid cyst, absent nasal bone, macroglossia, increase nuchal translucency and skin fold, avsd, left ventricle echogenic foci, duodenal atresia, pinky clinodactyly, short femurs, sandle gap toe; mental handicap, simian crease

echogenic structure in the right ventricle that should not be confused for an echogenic foci

moderator band

T13: aka…, common cns anomalies (2), gi, urinary (2), skeletal (2), cord

holoprosencephaly, agenesis do corpus callosum, omphalocele, renal dysplasia, duplicated kidney, polydactyly, rockerbottom foot, 2 vessel cord

T 18: aka…, severe … and …hydramnios, foot appearance, hand appearance, cord, head shape

edward’s, growth deficiency, poly, clubbed or rocker, clenched or index clinodactyly, 2 vessel cord, strawberry

turner’s syndrome: have … (#) chromosomes, sex chromosome, gender

45, x, female

turner’s syndrome: heart rate, ultrasound appearance (3), appearance as a child/adult (3)

tachycardia, cystic hygroma, iugr, hydrops, short, lymphedema, gonad dysgenesis

fetus in partial molar pregnancy, … triploidy; fetus in complete molar pregnancy, … triploidy

anomalous, maternal; absent, paternal

noonan’s syndrome: aka…

male turner syndrome

klinefetter syndrome: gender, sex chromosome, appear

male, xxy, feminization

beckwith-wiedemann: autosomal …, 3 signs

dominant, omphalocele, macroglossia, gigantism