Chapter-18 Preimplantation Genetic Diagnosis

BOOK TITLE: An Introduction to Genetics and Fetal Medicine

1. Umbardand Shashikant M
2. Patki Amit
Publishing Year
Author Affiliations
1. Clinical Associate - ReGenesis, Centre for Assisted Reproduction, Endoscopy and Fetal Medicine Reliance Life Sciences, Mumbai, Endoscopy and Fetal Medicine Reliance Life Sciences, Mumbai
2. Reliance Life Sciences, Mumbai, Maharashtra, India, ReGenesis Center for Assisted Reproduction Endoscopy and Fetal Medicine, Reliance Life Sciences, Mumbai, Maharashtra, India
Chapter keywords


In 1967, Robert Edwards and David Gardner reported the successful sexing of rabbit blastocysts, setting the first steps towards Preimplantation genetic diagnosis (PGD). PGD—the technique by which early human embryos are genetically screened and then discarded or placed in the uterus PGD is considered an alternative to prenatal diagnosis. PGD offers the alternative of screening embryos rather than fetuses, thus avoiding the need to terminate a pregnancy in order to ensure an unaffected child. The indications for PGD are increasing as our knowledge in this field improving over the years. PGD is increasingly available for aneuploidy, single gene mutations that cause genetic disease, susceptibility to cancer, and late onset disorders. If PGD is acceptable to prevent offspring with serious genetic disease, then these additional uses should be acceptable as well. There is also ethical support for using PGD to assure that a child is an HLA match with an existing child. Use of PGD for gender selection, to screen embryos for hearing, sexual orientation, and other non-medical traits is highly controversial. Thus PGD needs careful ethical analysis and open public debate in the near future.

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