Genetic infertility treated successfully at Mumbai hospital

A woman with a rare genetic disorder 'Robertsonian Translocation', resulting in infertility, has delivered a healthy baby girl at the Jaslok Hospital and Research Center.

"With this first Invitro fertilisation (IVF) using pre-implantation genetic diagnosis (PGD), India joins a handful of countries that have accomplished successful management of this disorder," Dr Firuza Parikh, Director, Assisted Reproduction and Genetics at Jaslok and former Professor at the Yale University School of Medicine, USA, said.

The baby girl was delivered yesterday at city's Jaslok hospital, Parikh said adding that this case report was published as a cover article in the peer reviewed 'Journal of Prenatal Diagnosis and Therapy' (January- June 2010).

Attributing the success to her team of 40 individuals particularly Dr Prochi Madon, Dr Arundhati Athalye, Mr Nandkishor Naik and Dattatray Naik, Parikh explained, "We are born with 46 chromosomes which occur in pairs. Each chromosome of a pair is a mirror image of the other. Although this harmony ismaintained in nature, an occasional slip results in a translocation."

"As the name suggests, a segment or an arm of one chromosome transports itself onto another chromosome and one such rearrangement is called a RobertsonianTranslocation after the American geneticist Dr W Robertson," she said.

"The rearrangement can occur in males and females who do not manifest any clinical symptoms. The problem manifests when the couple tries to conceive," Parikh said.

"An embryo derives half its chromosomes from the father and half from the mother. Hence if the chromosome with extra genetic material goes into the embryo, the amount of genetic material of that chromosome triples resulting in miscarriage or mental retardation," the In-vitro fertilization (IVF) expert said.

The embryos were screened using Pre-implantation Genetic Diagnosis (PGD).

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