Parental mosaic trisomy 21 detected following maternal cell contamination of an amniotic fluid specimen from a normal male pregnancy

Prenatal Diagnosis
Melissa L StreetTessa Homfray


We report a case of maternal mosaic trisomy 21 ascertained at prenatal diagnosis as a result of maternal cell contamination of an amniotic fluid sample. A 34 year old female was referred for karyotyping because of a previous trisomy 21 pregnancy. Chromosome analysis of primary in situ cultures showed a karyotype of 47,XX, + 21[6]/46,XY[32]/46,XX[2]. Molecular testing demonstrated maternal cell contamination of the amniotic fluid sample and G-banded karyotyping of maternal blood showed that 3/200 cells had trisomy 21, consistent with the mother being a Down syndrome mosaic. A normal male baby with a 46,XY chromosome complement was delivered at 30 weeks. This case emphasises the need for close collaboration between cytogenetic and molecular genetics laboratories in resolving unusual cases of mosaicism.


Jan 1, 1985·Human Genetics·I A Uchida, V C Freeman
Jan 1, 1984·Annual Review of Genetics·T J Hassold, P A Jacobs
Jul 1, 1996·Prenatal Diagnosis·A M FisherJ A Crolla
Oct 22, 1998·European Journal of Human Genetics : EJHG·R S JamesP A Jacobs
Apr 12, 2002·Journal of Medical Screening·J K MorrisE Alberman
Jan 22, 2005·Prenatal Diagnosis·Celia DonaghueCaroline Mackie Ogilvie

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Feb 28, 2013·American Journal of Medical Genetics. Part a·Siv FokstuenDieter Kotzot
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