PMID: 7971757Jul 1, 1994Paper

True trisomy 15 mosaicism, detected by amniocentesis at 12 weeks of gestation and fetal echocardiography

Prenatal Diagnosis
K SundbergB Beck

Abstract

A case of mosaicism of trisomy 15, with two-thirds of the cells trisomic, was detected at 12 weeks of gestation in amniotic fluid cell cultures obtained with the filtration technique. Ultrasound examination at 13 weeks showed a nodule protruding into the amniotic cavity which was speculated to be remnants of a co-twin, causing the trisomic cell line. At 20 weeks of gestation, a malformation scan (level III) was normal, but supplementary fetal echocardiography revealed a severe cardiac defect (mitral atresia and a ventricular septal defect). Fetal lymphocytes obtained by cordocentesis showed trisomy 15 mosaicism, but only in 5 per cent of the mitoses. After termination, the same percentage of trisomy 15 mosaicism was found in cells from skin and tendon as in the original early amniocentesis. No sign of earlier twinning was found in the placenta or membranes. We conclude that mosaicism in early amniotic fluid obtained by the filter technique in this case reflected the true karyotype accurately and that supplementary echocardiography added significantly to the interpretation of the clinical implications.

References

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Citations

Jun 15, 2004·Clinical Dysmorphology·Sabine A Knauer-FischerBerthold P Hauffa
Sep 19, 2015·Taiwanese Journal of Obstetrics & Gynecology·Chih-Ping ChenWayseen Wang
Nov 6, 2001·Annales de génétique·M Gérard-BlanluetJ C Janaud
Mar 15, 1996·American Journal of Medical Genetics·E M BühlerN Bösch
Jan 22, 1996·American Journal of Medical Genetics·J M MilunskyA Milunsky
Feb 2, 1996·American Journal of Medical Genetics·V D MarkovicE M Hutton
Dec 1, 1995·Prenatal Diagnosis·R D Wilson
Apr 1, 1996·Prenatal Diagnosis·S L ChristianD H Ledbetter

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