Prenatal diagnosis of trisomy 20 mosaicism by maternal serum screening for Down syndrome.
We report two cases of prenatally diagnosed trisomy 20 mosaicism associated with positive Down syndrome screening at 16 weeks' gestation. Both infants exhibited normal growth and mental development. These cases suggest that the multiple-marker screening test may play an important role in prenatal detection and diagnosis of chromosomal anomalies in addition to Down syndrome.
Chen
J H
JH
Department of Obstetrics and Gynecology, Chang Gung Memorial Hospital, Kaohsiung, Lin-Kou, Taiwan.
Hsu
T Y
TY
Ou
C Y
CY
Chang
L F
LF
Chang
S Y
SY
Soong
Y K
YK
D000328:Adult; D000649:Amniocentesis; D002890:Chromosomes, Human, Pair 20; D004314:Down Syndrome / Q000097:blood* / Q000235:genetics; D005260:Female; D005317:Fetal Growth Retardation / Q000000981:diagnostic imaging / Q000235:genetics; D005820:Genetic Testing; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D009030:Mosaicism / Q000235:genetics*; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014314:Trisomy / Q000175:diagnosis* / Q000235:genetics*; D014463:Ultrasonography