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Increased fetal nuchal fold leading to prenatal diagnosis of ring chromosome 15
Authors:Yu-Hung Liu  Shuenn Dyh Chang  Fang-Ping Chen
Affiliation:1. Department of Obstetrics and Gynecology, Keelung Chang Gung Memorial Hospital, Keelung, Taiwan, ROC;2. Department of Obstetrics and Gynecology, Chang Gung Memorial Hospital, Tao-Yuan, Linkou Medical Center, Taiwan, ROC
Abstract:We report on the prenatal diagnosis of ring chromosome 15 in a fetus with increased nuchal fold and intrauterine growth restriction (IUGR). A 27-year-old woman gravida 2, para 1 had normal maternal serum screen tests in the early second trimester of the index pregnancy. Fetal nuchal fold thickening up to 8 mm was incidentally found during the routine obstetric ultrasound scan at 20 weeks' gestation. Amniocentesis was undertaken and the fetal karyotype was found to be 46,XY,r(15) on cytogenetic study. Fluorescence in situ hybridization (FISH) using a telomeric probe of chromosome 15 demonstrated a terminal deletion on the q arm of the ring-shaped chromosome 15. This is the first report of a prenatally diagnosed case of ring chromosome 15. Moreover, nuchal fold thickness in the second trimester may have a role in its prenatal diagnosis. Copyright © 2001 John Wiley & Sons, Ltd.
Keywords:ring chromosome 15  increased nuchal fold  prenatal diagnosis  intrauterine growth restriction
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