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

Increased pregnancy and reduced 3-fold spontaneous abortion rates were observed in a series of 317 PGD cycles with combined single-gene, and/or HLA typing, and 24-chromosome aneuploidy testing.


Svetlana Rechitsky, Ph.D., Tatiana Pakhalchuk, M.S., Geraldine San Ramos, M.S., Adam Goodman, B.S., Zev Zlatopolsky, M.S., Anver Kuliev, M.D., Ph.D.

Volume 103, Issue 2, Pages 503-512



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.


Retrospective study.


Preimplantation genetic diagnosis center.


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.


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.


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.


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.

Read the full text at: