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Increased fetal nuchal fold leading to prenatal diagnosis of ring chromosome 15
Author(s) -
Liu YuHung,
Dyh Chang Shuenn,
Chen FangPing
Publication year - 2001
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.168
Subject(s) - fetus , prenatal diagnosis , medicine , obstetrics , ring chromosome , fold (higher order function) , chromosome , karyotype , genetics , pregnancy , biology , computer science , programming language , gene
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.

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