Birth of healthy twins after PGT-M for achondroplasia -First reported case in India and second in the world

Abstract

Aim: To perform pre-implantation genetic testing for a monogenic (PGT–M) condition due to FGFR3 gene mutation (c.1620C>C/G (p.N540K) in order to transfer unaffected embryos after ICSI.

Methods: Oocytes were fertilized by means of intracytoplasmic sperm injection. The resulting embryos were biopsied 5 days at the blastocyst stage. Trophectoderm cells were taken and whole-genome amplification was performed. Amplification of the mutation site was achieved by polymerase chain reaction (PCR) and capillary electrophoresis was performed for identification of the mutation. Two mutation free embryos were transferred, leading to the birth of healthy twins.

Result(s): A c.1620C>C/G (p.N540K) mutation was identified in a dwarf man with Achondroplasia / Hypochondroplasia. Female partner had no features of dwarfism. Embryos with and without mutation were identified by means of PGT-M PCR, followed by successful transfer of two mutation free embryos, resulting in a successful pregnancy and delivery of health twins.

Conclusion(s): We report the first case of successful PGT-M for achondroplasia in India.