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Trisomy 10: first‐trimester features on ultrasound, fetoscopy and postmortem of a case associated with increased nuchal translucency
Author(s) -
Schwärzler P.,
Moscoso G.,
Bernard J. P.,
Hill L.,
Senat M.V.,
Ville Y.
Publication year - 1999
Publication title -
ultrasound in obstetrics and gynecology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.202
H-Index - 141
eISSN - 1469-0705
pISSN - 0960-7692
DOI - 10.1046/j.1469-0705.1999.13010067.x
Subject(s) - medicine , trisomy , diaphragmatic hernia , fetoscopy , obstetrics , prenatal diagnosis , arthrogryposis , fetus , nuchal translucency measurement , chorionic villus sampling , aneuploidy , obstetrics and gynaecology , pregnancy , gynecology , radiology , anatomy , hernia , chromosome , biochemistry , genetics , chemistry , gene , biology
We report a case of the prenatal diagnosis of trisomy 10 in a fetus presenting with an increased nuchal translucency thickness (5 mm) on a routine first‐trimester anomaly scan at 12 weeks' gestation. Multiple abnormalities were diagnosed by ultrasound and fetoscopy. Karyotyping on chorionic villus sampling led to the diagnosis of homogeneous trisomy 10 which was confirmed by in situ hybridization on fetal tissue samples. Postmortem examination confirmed major anatomical malformations, including facial cleft, arthrogryposis of the upper and lower limbs and bilateral diaphragmatic hernia, and also revealed hypoplastic lungs, right renal agenesis and a complex cardiac malformation. Trisomy 10 is an uncommon chromosomal abnormality that is likely to be associated with increased fetal nuchal translucency. This case also emphasizes the value of a detailed anomaly scan in high‐risk patients in the first trimester of pregnancy. Copyright © 1999 International Society of Ultrasound in Obstetrics and Gynecology