Preimplantation genetic diagnosis for couples at high risk of Down syndrome pregnancy owing to parental translocation or mosaicism
Clare M Conna, Jean Cozzi* a, Joyce C Harpera b, Robert M L Winstonc, Joy D A Delhantya b
a Human Genetics
Group, The Galton Laboratory, University College London, 4 Stephenson
Way, London NW1 2HE, UK, b Human Genetics and
Embryology Group, Department of Obstetrics and Gynaecology, University
College London, London, UK, c Institute of Obstetrics and Gynaecology, Royal
Postgraduate Medical School, Hammersmith Hospital, London, UK
Correspondence to: Dr Conn.
Received 7 January
1998;
Revised version accepted for publication 10 June 1998
The population risk for trisomy 21 is 1 in 700 births but
some couples are at a much higher risk owing to parental translocation or mosaicism. We report on the first attempt to carry out
preimplantation genetic diagnosis for two such couples using cleavage
stage embryo biopsy and dual colour FISH analysis. Each couple
underwent two treatment cycles. Couple 1 (suspected gonadal mosaicism
for trisomy 21) had two embryos normal for chromosome 21 transferred,
but no pregnancy resulted; 64% (7/11) unfertilised oocytes/embryos showed chromosome 21 aneuploidy. Couple 2 (46,XX,t(6;21)(q13;q22.3)) had a single embryo transferred resulting in a biochemical pregnancy; 91% (10/11) oocytes/embryos showed chromosome 21 imbalance, most resulting from 3:1 segregation of this translocation at gametogenesis. The opportunity to test embryos before implantation enables the outcome
of female meiosis to be studied for the first time and the recurrence
risk for a Down syndrome pregnancy to be assessed.
Keywords: preimplantation genetic diagnosis; Down syndrome; reciprocal translocation; gonadal mosaicism
* Present address: Laboratoire de Biologie de la Reproduction, Faculté de Médecine de Bobigny, Paris, France.
© 1999 by J Med Genet
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