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- Title
PRENATAL DIAGNOSIS OF A DELETION OF 18q IN A FETUS ASSOCIATED WITH MULTIPLE-MARKER SCREEN POSITIVE RESULTS.
- Authors
CHEN, CHIH-PING; CHERN, SCHU-RERN; LIU, FEN-FEN; JAN, SHEAU-WEN; LEE, CHEN-CHI; CHANG, YI-CHIN; YUE, CHUNG-TAI
- Abstract
We report here the observations of positive maternal serum screening tests for Down syndrome, cytogenetic and molecular analysis, and dysmorphic fetal features in a pregnancy with 18q− syndrome. A 33-year-old primigravida was referred for genetic counselling because of multiple-marker screen positive results. At 14 weeks' gestation, the woman had a Down syndrome risk of 1:107 calculated from a maternal serum alpha-fetoprotein (MSAFP) level of 1·49 multiples of the median (MOM), a total human chorionic gonadotrophin (hCG) level of 2·42 MOM, and a serum unconjugated oestriol (uE3) level of 0·55 MOM. At 17 weeks' gestation, a repeat test showed a Down syndrome risk of 1:10 calculated from an MSAFP level of 1·09 MOM and a free β-hCG level of 12·3 MOM. Genetic amniocentesis revealed a de novo deletion of 18q22.2-qter. Intrauterine fetal death occurred at 21 weeks' gestation. At birth, the fetus manifested clinical findings of the 18q− syndrome. The phenotype was correlated with the extent of the deletion. Linkage analysis of the family confirmed the extent and paternal origin of the deletion. © 1997 John Wiley & Sons, Ltd.
- Publication
Prenatal Diagnosis, 1997, Vol 17, Issue 6, p571
- ISSN
0197-3851
- Publication type
Article
- DOI
10.1002/(SICI)1097-0223(199706)17:6<571::AID-PD88>3.0.CO;2-H