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Human Blastocyst Biopsy and Vitrification
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An unusual case of trisomy and triploidy in a chorion villus biopsy

C J English1, N W Atkey, G Linton

  • 1Regional Genetics Service, 20 Claremont Place, Newcastle upon Tyne, UK.C.J.English@nc.ac.uk

Prenatal Diagnosis
|December 13, 2000
PubMed

A case is reported of a 35-year-old woman who underwent a chorion villus biopsy (CVB) at 17 weeks' gestation after intrauterine growth retardation and oligohydramnios were diagnosed by ultrasound scan. Chromosome analysis of the CVB direct preparations showed a 47,XX,+6 karyotype in all cells. The pregnancy was terminated and subsequent analysis of cultured cells from both the CVB and the post-mortem placenta showed three cell lines: 46,XX, 47,XX,+6 and 69,XXX, while fetal skin and muscle were entirely 69,XXX. An explanation is proposed for the origin and distribution of the three cell lines.

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