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


METHODS
Prospective clinical research study.


METHODS
Academic reproductive medicine center.


METHODS
Eighteen couples carrying a balanced reciprocal or Robertsonian chromosomal rearrangement.


METHODS
PGD on blastocyst trophectoderm biopsy specimens.


METHODS
Aneuploidy, implantation, pregnancy, and delivery rates after SNP microarray-based aneuploidy and translocation screening.


RESULTS
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.


CONCLUSIONS
This SNP microarray-based method provides the first opportunity to improve outcomes through comprehensive identification of euploid embryos from translocation carrier couples.
Reproductive Medicine Associates of New Jersey, Morristown, New Jersey 07960, USA. ntreff@rmanj.com
Nathan R
NR
Treff
Lesley E
LE
Northrop
Khushabu
K
Kasabwala
Jing
J
Su
Brynn
B
Levy
Richard T
RT
Scott
D000328:Adult; D022981:Allelic Imbalance / Q000235:genetics; D000782:Aneuploidy; D001755:Blastocyst / Q000166:cytology / Q000378:metabolism*; D002478:Cells, Cultured; D002877:Chromosomes, Human; D046149:Embryo Culture Techniques; D005260:Female; D005307:Fertilization in Vitro; D006801:Humans; D008403:Mass Screening / Q000379:methods; D046228:Microarray Analysis / Q000379:methods*; D020641:Polymorphism, Single Nucleotide; D011247:Pregnancy; D018873:Pregnancy Rate; D019836:Preimplantation Diagnosis / Q000379:methods*; D014178:Translocation, Genetic