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PRENATAL DIAGNOSIS OF A DELETION OF 18q IN A FETUS ASSOCIATED WITH MULTIPLE-MARKER SCREEN POSITIVE RESULTS

✍ Scribed by CHIH-PING CHEN; SCHU-RERN CHERN; FEN-FEN LIU; SHEAU-WEN JAN; CHEN-CHI LEE; YI-CHIN CHANG; CHUNG-TAI YUE

Publisher: John Wiley and Sons
Year: 1997
Tongue: English
Weight: 666 KB
Volume: 17
Category: Article
ISSN: 0197-3851
DOI: 10.1002/(sici)1097-0223(199706)17:6<571::aid-pd88>3.0.co;2-h

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✦ Synopsis

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 beta-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.

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