In this blinded prospective study, the authors showed that rapid and reliable real-time PCR-based gender identification of preimplantation human embryos using a single blastomere can be performed within about 4 h after biopsy.
We often want more information than this study determined but there are situations where this technique would be useful. The most obvious scenario would be when the embryo quality is so poor that biopsy on day 3 and delay of transfer until day 5 might result in no viable embryos for transfer. If we are dealing with an X-linked disorder or family balancing gender selection, then this information would be sufficient.
Development of a real-time PCR method for rapid sexing of human preimplantation embryos
MD, PhD Ciro Martinhago1,5, Laura Vagnini2, Claudia Petersen3, Ana Lucia Mauri3, MD Ricardo Baruffi3, MD Ricardo de Oliveira4, MD, PhD José Gonçalves Franco Junior3
Genes on the X chromosome are known to be responsible for more than 200 hereditary diseases. After IVF, the simple selection of embryo sex before uterine transfer can prevent the occurrence of affected offspring among couples at risk for these genetic disorders. The aim of this investigation was to develop a rapid method of preimplantation genetic diagnosis (PGD) using real-time polymerase chain reaction (PCR) for the sexing of human embryos, and to compare it to the fluorescence in-situ hybridization technique, considered to be the gold standard.After biopsies were obtained from 40 surplus non-viable embryos for transfer, a total of 98 blastomeres were analysed. It was possible to analyse 24 embryos (60%) by both techniques, generating a total of 70 blastomeres (35 per technique), while 28 blastomeres from 16 embryos (40%) were analysed only by real-time PCR. A rapid and safe method was developed in the present study for the sexual diagnosis of a single human cell (blastomere and buccal cell) using the emerging technology of real-time PCR.
1RDO medical diagnósis Av Brasil, 1150 São Paulo / SP Brazil 01430-001
2CPDP—Paulista Center of Diagnosis and Research—Ribeirão Preto, SP Brazil
3CRH—Center for Human Reproduction Professor Franco Junior—Ribeirão Preto, SP Brazil
4RDO Medical Diagnosis—São Paulo, SP Brazil