NYU Fertility Center, New York, New York, USA.
Fertil Steril. 2012 Sep;98(3):675-80. doi: 10.1016/j.fertnstert.2012.05.025. Epub 2012 Jun 7.
To determine any beneficial effects of preimplantation genetic screening (PGS) of all chromosomes by array comparative genomic hybridization (aCGH), with either day 3 or blastocyst biopsy, for idiopathic recurrent pregnancy loss (RPL) patients compared with their expected loss rate.
Case series report.
Multiple fertility centers.
PATIENT(S): A total of 287 cycles of couples with idiopathic RPL (defined as two or more losses).
INTERVENTION(S): PGS was done with day 3 biopsy (n = 193) or blastocyst biopsy (n = 94), followed by analysis with aCGH.
MAIN OUTCOME MEASURE(S): Spontaneous abortion rate, euploidy rate.
RESULT(S): A total of 2,282 embryos were analyzed, of which 35% were euploid and 60% were aneuploid. There were 181 embryo transfer cycles, of which 100 (55%) became pregnant with an implantation rate of 45% (136 sacs/299 replaced embryos) and 94 pregnancies (92%) were ongoing (past second trimester) or delivered. The miscarriage rate was found to be only 6.9% (7/102), compared with the expected rate of 33.5% in an RPL control population and 23.7% in an infertile control population.
CONCLUSION(S): Current PGS results with aCGH indicate a significant decrease in the miscarriage rate of idiopathic RPL patients and high pregnancy rates. Furthermore, this suggests that idiopathic recurrent miscarriage is mostly caused by chromosomal abnormalities in embryos.
通过比较基因组杂交（array comparative genomic hybridization，aCGH）对所有染色体进行植入前遗传学筛查（preimplantation genetic screening，PGS），以确定其对不明原因复发性妊娠丢失（idiopathic recurrent pregnancy loss，RPL）患者的有益影响，同时比较其预期丢失率。
病例系列报告。
多个生育中心。
共有 287 个周期的不明原因 RPL 夫妇（定义为两次或两次以上流产）。
进行 PGS 分析，使用的方法分别为第 3 天活检（n = 193）和囊胚活检（n = 94），然后进行 aCGH 分析。
自然流产率、整倍体率。
共分析了 2,282 个胚胎，其中 35%为整倍体，60%为非整倍体。共进行了 181 个胚胎移植周期，其中 100 个（55%）怀孕，着床率为 45%（136 个囊胚/299 个替换胚胎），94 个妊娠（92%）继续进行（超过第二个孕中期）或分娩。流产率仅为 6.9%（7/102），而 RPL 对照组的预期流产率为 33.5%，不孕对照组的预期流产率为 23.7%。
目前的 aCGH PGS 结果表明，不明原因 RPL 患者的流产率显著降低，妊娠率较高。此外，这表明不明原因的复发性流产主要是由胚胎染色体异常引起的。
