Preimplantation gender diagnosis by fluorescence in situ hybridization / 中华医学杂志(英文版)

ABSTRACT

<p><b>OBJECTIVE</b>To describe the clinical application of fluorescence in situ hybridization (FISH ) in preimplantation gender diagnosis.</p><p><b>METHODS</b>Preimplantation gender diagnosis was performed in 2 female hemophilia A carriers, 1 male patient with glucose-6-phosphate dehydrogenase (G-6-PD) deficiency and 2 male patients with Y chromosome abnormality. Embryo sex was identified by FISH in total of 6 treatment cycles.</p><p><b>RESULTS</b>A total of 123 cumulus-oocytes were retrieved in 6 treatment cycles. Sixty-one embryos were available for embryo biopsy. The success rate of biopsy was 86.9% (53/61), with a further cleavage rate of 62.3% (33/53). In the FISH procedure, one cell was lost during fixation, leading to a 98.1% (52/53) fixation rate. Totally, 16 female embryos and 3 male embryos were transferred to 5 patients in 6 cycles. Three healthy babies were born. The diagnosis was confirmed by subsequent analysis of amniocytes and embryonic buds after embryo reduction.</p><p><b>CONCLUSIONS</b>FISH is an efficient and reliable technique for determining the sex of human preimplantation embryos. Selective abortion and births of affected children can be avoided by preimplantation gender diagnosis.</p>