PGD by FISH for a Reciprocal Translocation: First Baby from India

Abstract

A couple with a history of five early miscarriages due to a balanced reciprocal translocation t(6;19) (p22;q13.4) in the wife, was referred for preimplantation genetic diagnosis (PGD) by fluorescence in situ hybridization (FISH). After oocyte retrieval, nine embryos were obtained. One cell from each embryo was biopsied, fixed and subjected to FISH using centromere and subtelomere probes for chromosomes 6 and 19. Five embryos which had unbalanced translocations, were not transferred. A balanced translocation or absence of translocation was seen in three embryos, which were transferred. One embryo had an anucleate cell and subsequently arrested. A pregnancy was achieved in the first intracytoplasmic sperm injection cycle itself and resulted in the birth of a healthy baby. This is the first baby after PGD for a reciprocal translocation in India. In 2010, the team of the authors reported the first successful pregnancy after PGD for a Robertsonian translocation and a normal child was born.

Keywords

Preimplantation genetic diagnosis in India - Pre-PGD workup - Recurrent spontaneous abortions - Multiple miscarriages - Balanced translocation - FISH

Publikationsverlauf

Eingereicht: 29. April 2014

Angenommen: 23. Mai 2014

Artikel online veröffentlicht:
08. Mai 2023