First systematic experience of preimplantation genetic diagnosis for single-gene disorders, and/or preimplantation human leukocyte antigen typing, combined with 24-chromosome aneuploidy testing.

Abstract

OBJECTIVE:

To study the feasibility, accuracy, and reproductive outcome of 24-chromosome aneuploidy testing (24-AT), combined with preimplantation genetic diagnosis (PGD) for single-gene disorders (SGDs) or human leukocyte antigen (HLA) typing in the same biopsy sample.

DESIGN:

Retrospective study.

SETTING:

Preimplantation genetic diagnosis center.

PATIENT(S):

A total of 238 PGD patients, average age 36.8 years, for whom 317 combined PGD cycles were performed, involving 105 different conditions, with or without HLA typing.

INTERVENTION(S):

Whole-genome amplification product, obtained in 24-AT, was used for PGD and/or HLA typing in the same blastomere or blastocyst biopsy samples.

MAIN OUTCOME MEASURE(S):

Proportion of the embryos suitable for transfer detected in these blastomere or blastocyst samples, and the resulting pregnancy and spontaneous abortion rates.

RESULT(S):

Embryos suitable for transfer were detected in 42% blastocyst and 25.1% blastomere samples, with a total of 280 unaffected, HLA-matched euploid embryos detected for transfer in 212 cycles (1.3 embryos per transfer), resulting in 145 (68.4%) unaffected pregnancies and birth of 149 healthy, HLA-matched children. This outcome is significantly different from that of our 2,064 PGD cycle series without concomitant 24-AT, including improved pregnancy (68.4% vs. 45.4%) and 3-fold spontaneous abortion reduction (5.5% vs. 15%) rates.

CONCLUSION(S):

The introduced combined approach is a potential universal PGD test, which in addition to achieving extremely high diagnostic accuracy, significantly improves reproductive outcomes of PGD for SGDs and HLA typing in patients of advanced reproductive age.

• Authors: Svetlana Rechitsky, Tatiana Pakhalchuk, Geraldine San Ramos, Adam Goodman, Zev Zlatopolsky, Anver Kuliev
• Journal: Fertility and sterility (Fertil Steril) Vol. 103 Issue 2 Pg. 503-12 (Feb 2015) ISSN: 1556-5653 [Electronic] United States
• PMID: 25516085 (Publication Type: Journal Article)
• Copyright: Copyright © 2015 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

Chemical References

• HLA Antigens

Topics

• Adult
• Aneuploidy
• Female
• Genetic Testing (methods)
• HLA Antigens (genetics)
• Humans
• Pregnancy
• Preimplantation Diagnosis (methods)
• Retrospective Studies