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Updated: Jun 6, 2026
Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
Published on: August 25, 2019
Single nucleotide polymorphism microarray-based concurrent screening of 24-chromosome aneuploidy and unbalanced
Nathan R Treff1, Lesley E Northrop, Khushabu Kasabwala
1Reproductive Medicine Associates of New Jersey, Morristown, New Jersey 07960, USA. ntreff@rmanj.com
Objective:
To develop, validate, and apply a single nucleotide polymorphism (SNP) microarray-based method for simultaneous preimplantation genetic diagnosis (PGD) of unbalanced inheritance of rearranged chromosomes and 24-chromosome aneuploidy screening.
Design:
Prospective clinical research study.
Setting:
Academic reproductive medicine center.
Patient(S):
Eighteen couples carrying a balanced reciprocal or Robertsonian chromosomal rearrangement.
Intervention(S):
PGD on blastocyst trophectoderm biopsy specimens.
Main Outcome Measure(S):
Aneuploidy, implantation, pregnancy, and delivery rates after SNP microarray-based aneuploidy and translocation screening.
Result(S):
Single nucleotide polymorphism microarray was capable of detecting translocation-associated imbalances as small as 9.0 megabases. In the 12 transfers performed, sustained implantation occurred for 9 (45%) of 20 balanced-normal and euploid embryos replaced. The clinical pregnancy rate in patients receiving a transfer was 75% with six singleton deliveries and three ongoing singleton pregnancies thus far. Significantly fewer embryos were eligible for transfer with the incorporation of simultaneous 24-chromosome aneuploidy screening. Arrested embryos were also significantly more likely to possess unbalanced chromosomes when compared with developmentally competent blastocysts.
Conclusion(S):
This SNP microarray-based method provides the first opportunity to improve outcomes through comprehensive identification of euploid embryos from translocation carrier couples.
