Goldman Kara N, Nazem Taraneh, Berkeley Alan, Palter Steven, Grifo Jamie A
Department of Obstetrics and Gynecology, Division of Reproductive Endocrinology and Infertility, New York University Langone Medical Center, New York, NY, 10016, USA.
New York University Fertility Center, 660 First Avenue, Fifth Floor, New York, NY, 10016, USA.
J Genet Couns. 2016 Dec;25(6):1327-1337. doi: 10.1007/s10897-016-9975-4. Epub 2016 Jun 9.
Pre-implantation genetic diagnosis (PGD) has changed the landscape of clinical genetics by helping families reduce the transmission of monogenic disorders. However, given the high prevalence of embryonic aneuploidy, particularly in patients of advanced reproductive age, unaffected embryos remain at high risk of implantation failure or pregnancy loss due to aneuploidy. 24-chromosome aneuploidy screening has become widely utilized in routine in vitro fertilization (IVF) to pre-select embryos with greater pregnancy potential, but concurrent 24-chromosome aneuploidy screening has not become standard practice in embryos biopsied for PGD. We performed a retrospective cohort study of patients who underwent PGD with or without 24-chromosome aneuploidy screening to explore the value of concurrent screening. Among the PGD + aneuploidy-screened group (n = 355 blastocysts), only 25.6 % of embryos were both Single Gene Disorder (SGD)-negative (or carriers) and euploid; thus the majority of embryos were ineligible for transfer due to the high prevalence of aneuploidy. Despite a young mean age (32.4 ± 5.9y), 49.9 % of Blastocysts were aneuploid. The majority of patients (53.2 %) had ≥1 blastocyst that was Single Gene Disorder (SGD)-unaffected but aneuploid; without screening, these unaffected but aneuploid embryos would likely have been transferred resulting in implantation failure, pregnancy loss, or a pregnancy affected by chromosomal aneuploidy. Despite the transfer of nearly half the number of embryos in the aneuploidy-screened group (1.1 ± 0.3 vs. 1.9 ± 0.6, p < 0.0001), the implantation rate was higher (75 % vs. 53.3 %) and miscarriage rate lower (20 % vs. 40 %) (although not statistically significant). 24-chromosome aneuploidy screening when performed concurrently with PGD provides valuable information for embryo selection, and notably improves single embryo transfer rates.
植入前基因诊断（PGD）通过帮助家庭减少单基因疾病的传递，改变了临床遗传学的格局。然而，鉴于胚胎非整倍体的高发生率，尤其是在高龄生育患者中，未受影响的胚胎由于非整倍体仍面临着床失败或妊娠丢失的高风险。24条染色体非整倍体筛查已在常规体外受精（IVF）中广泛应用，以预先选择具有更大妊娠潜力的胚胎，但在为PGD进行活检的胚胎中，同时进行24条染色体非整倍体筛查尚未成为标准做法。我们对接受或未接受24条染色体非整倍体筛查的PGD患者进行了一项回顾性队列研究，以探讨同时筛查的价值。在PGD + 非整倍体筛查组（n = 355个囊胚）中，只有25.6%的胚胎既是单基因疾病（SGD）阴性（或携带者）又是整倍体；因此，由于非整倍体的高发生率，大多数胚胎不符合移植条件。尽管平均年龄较轻（32.4 ± 5.9岁），但49.9%的囊胚是非整倍体。大多数患者（53.2%）有≥1个单基因疾病（SGD）未受影响但非整倍体的囊胚；如果不进行筛查，这些未受影响但非整倍体的胚胎可能会被移植，导致着床失败、妊娠丢失或受染色体非整倍体影响的妊娠。尽管非整倍体筛查组移植的胚胎数量几乎减半（1.1 ± 0.3对1.9 ± 0.6，p < 0.0001），但着床率更高（75%对53.3%），流产率更低（20%对40%）（尽管无统计学意义）。与PGD同时进行24条染色体非整倍体筛查可为胚胎选择提供有价值的信息，并显著提高单胚胎移植率。
