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.
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.
Authors: Chris M J van Uum; Servi J C Stevens; Joseph C F M Dreesen; Marion Drüsedau; Hubert J Smeets; Bertien Hollanders-Crombach; Christine E M de Die-Smulders; Joep P M Geraedts; John J M Engelen; Edith Coonen Journal: Eur J Hum Genet Date: 2012-02-29 Impact factor: 4.246
Authors: Kyle J Tobler; Paul R Brezina; Andrew T Benner; Luke Du; Xin Xu; William G Kearns Journal: J Assist Reprod Genet Date: 2014-04-26 Impact factor: 3.412