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Fertil Steril. 2011 Apr;95(5):1606-12.e1-2. doi: 10.1016/j.fertnstert.2010.11.004. Epub 2010 Dec 3.

Single nucleotide polymorphism microarray-based concurrent screening of 24-chromosome aneuploidy and unbalanced translocations in preimplantation human embryos.

Author information

1
Reproductive Medicine Associates of New Jersey, Morristown, New Jersey 07960, USA. ntreff@rmanj.com

Abstract

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.

[Indexed for MEDLINE]

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