Differentiation of genetic abnormalities in early pregnancy loss.
Differentiation of genetic abnormalities in early pregnancy loss.
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DOI：
10.1002/uog.14713
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发表时间：
2015-01
期刊：
影响因子：
--
通讯作者：
Silver RM
中科院分区：
文献类型：
--
作者：
Romero ST;Geiersbach KB;Paxton CN;Rose NC;Schisterman EF;Branch DW;Silver RM
探讨不同发育阶段早孕流产的遗传异常类型及其发生率。我们假设，流产中遗传异常的患病率在不同发育阶段会有所不同。在诊断时登记了妊娠< 20周时流产的妇女（n = 86）。在13个样本中发现了没有胎儿成分的母体组织。对74个样本（包括两个来自双胎妊娠的样本）进行了染色体微阵列分析（CMA）; 15个是胚胎前（超声检查中没有可见胚胎），31个是胚胎（胚胎; 6 + 0至9 + 6周妊娠）和28个胎儿（胎儿; 10 + 0至19 + 6周妊娠）损失。双胎妊娠被发现是单绒毛膜双羊膜腔，随后被视为一个单一的样本在我们的分析。由于100%的母细胞污染，9个进行CMA的样本被排除在分析之外。遗传异常的总体患病率在不同发育阶段不同（胚胎前9.1%，胚胎69.2%和胎儿33.3%; P < 0.01）。当比较胚胎前与胚胎样品（P < 0.01）和胚胎与胎儿样品（P = 0.02）时，这种差异持续存在，但胚胎前与胎儿样品（P = 0.12）不存在。此外，不同发育阶段的非整倍体患病率差异显著（胚胎前样本为0.0%，胚胎样本为65.4%，胎儿样本为25.9%，P < 0.001）。流产最常见于胚胎病例，其次是胎儿和胚胎前。在评估的46，XX例病例中，47.4%观察到母体细胞污染（MCC）。CMA检测到的遗传异常更可能发生在胚胎期，而不是胚胎前或胎儿阶段。MCC常见于早期妊娠丢失，当结果显示46，XX核型时应排除。
To characterize the types of genetic abnormalities and their prevalence in early pregnancy loss at different developmental stages. We hypothesized that the prevalence of genetic abnormalities in pregnancy loss would differ across developmental stages. Women with a pregnancy loss at < 20 weeks’ gestation (n = 86) were enrolled at the time of diagnosis. Maternal tissue without a fetal component was found in 13 samples. Chromosomal microarray analysis (CMA) was performed on 74 samples (including two samples from a twin pregnancy); 15 were pre-embryonic (no visible embryo on ultrasound examination), 31 were embryonic (embryo; 6 + 0 to 9 + 6 weeks’ gestation) and 28 were fetal (fetus; 10 + 0 to 19 + 6 weeks’ gestation) losses. The twin pregnancy was found to be monochorionic diamniotic and was subsequently treated as a single sample in our analysis. Nine samples that underwent CMA were excluded from analysis because of 100% maternal-cell contamination. The overall prevalence of genetic abnormalities differed across developmental stages (9.1% pre-embryonic, 69.2% embryonic and 33.3% fetal; P < 0.01). This difference persisted when comparing pre-embryonic with embryonic samples (P < 0.01) and embryonic with fetal samples (P = 0.02) but not pre-embryonic with fetal samples (P = 0.12). Additionally, the prevalence of aneuploidy differed significantly across developmental stages (0.0% in pre-embryonic samples vs 65.4% in embryonic samples vs 25.9% in fetal samples, P < 0.001). Abnormalities were most common in embryonic cases, followed by fetal and then pre-embryonic. Maternal cell contamination (MCC) was noted in 47.4% of 46,XX cases assessed. Genetic abnormalities detected by CMA are more likely to occur in the embryonic period than in pre-embryonic or fetal stages. MCC is common in early pregnancy loss and should be excluded when results demonstrate a 46,XX karyotype.
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