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

• Published in: Journal of fetal medicine Vol. 1; no. 1; pp. 41 - 43
• Main Authors: Naik, Dattatray J., Madon, Prochi F., Naik, Nandkishor J., Athalye, Arundhati S., Parikh, Firuza R.
• Format: Journal Article
• Language: English
• Published: India Springer India 01.03.2014; Thieme Medical and Scientific Publishers Pvt. Ltd
• Subjects: Brief Communication; Diagnostic Radiology; Maternal and Child Health; Medicine; Medicine & Public Health; Obstetrics/Perinatology/Midwifery; Reproductive Medicine; Ultrasound; Pre-PGD workup; Recurrent spontaneous abortions; FISH; Preimplantation genetic diagnosis in India; Balanced translocation; Multiple miscarriages
• ISSN: 2348-1153; 2348-8859
• DOI: 10.1007/s40556-014-0005-z

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.