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CLINICAL EXPERIENCE WITH PREIMPLANTATION GENETIC DIAGNOSIS OF CYSTIC FIBROSIS (ΔF508)

✍ Scribed by ASANGLA AO; PIERRE RAY; JOYCE HARPER; JOHN LESKO; THANOS PARASCHOS; GLENN ATKINSON; IAKOVOS SOUSSIS; DEBBIE TAYLOR; ALAN HANDYSIDE; MARK HUGHES; ROBERT M. L. WINSTON

Publisher
John Wiley and Sons
Year
1996
Tongue
English
Weight
644 KB
Volume
16
Category
Article
ISSN
0197-3851

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✦ Synopsis

Preimplantation genetic diagnosis (PGD) was attempted in 12 couples in whom both parents carry the common AF508 deletion causing cystic fibrosis (CF). In vitro fertilization (IVF) was followed by cleavage stage biopsy on days 2 and 3 and removal of one or two cells for genetic analysis by nested polymerase chain reaction (PCR) and heteroduplex formation. A total of 18 cycles resulted in 137 normally fertilized embryos, of which 115 developed to cleavage stages and 114 were successfully biopsied. Genetic analysis was successful in 83 embryos (73 per cent). With the remaining embryos, either results from two or more cells were discordant or amplification failed. In 15 cycles, one or two either normal or carrier embryos were transferred and five (33 per cent) clinical pregnancies were established. Five singletons have been born and at birth all five babies have been confirmed as homozygous for the normal allele. Our experience demonstrates that IVF and cleavage stage biopsy consistently provides sufficient embryos, diagnosed as unaffected, for transfer in this autosomal recessive disease and that pregnancy rates are comparable to those following IVF.

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