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胚胎染色体微阵列分析后复发性妊娠丢失夫妇的生殖结局。

Reproductive outcomes in couples with recurrent pregnancy loss after embryonic chromosomal microarray analysis.

机构信息

Department of Prenatal Diagnosis, Women's Hospital of Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital, Nanjing, Jiangsu Province, China.

出版信息

J Assist Reprod Genet. 2024 Jan;41(1):161-170. doi: 10.1007/s10815-023-02971-0. Epub 2023 Oct 24.

Abstract

BACKGROUND

Chromosomal microarray analysis (CMA) has been widely applied to explore the genetic etiology in recurrent pregnancy loss (RPL). However, the reproductive prognosis in RPL couples with different types of chromosomally abnormal miscarriage remains unclear.

OBJECTIVES

The main purpose of this study was to evaluate the reproductive prognosis among RPL couples after genetic testing in products of conception (POCs) by CMA.

STUDY DESIGN

In this retrospective study, 1101 RPL couples referred for genetic testing in POCs by CMA. A total of 830 couples who met the inclusion criteria were followed up for at least 24 months after the index miscarriage. The rates of live birth and adverse pregnancy events in subsequent pregnancy and cumulative pregnancies were examined.

RESULTS

For couples with three or more miscarriage, compared with those with chromosomally normal miscarriage, a significantly higher subsequent live birth rate was found in couples with chromosomally abnormal miscarriage (66.9% vs 71.6%, P = .040). However, differences in cumulative live birth rate among couples with chromosomally abnormal miscarriage and normal miscarriage were nonsignificant (82.7% vs 80.2%, P = .131). Women with advanced maternal age showed a significant decrease in the live birth rate (P < 0.01) and an increase in the miscarriage rate (P < 0.01) than those aged < 35 years old, regardless of whether the miscarriage was chromosomally normal or abnormal. RPL couples with chromosomally normal miscarriage showed a significant decrease in live birth rates in subsequent pregnancy and cumulative pregnancies, when they had experienced a large number of previous miscarriages; however, no significant difference was observed in those with chromosomally abnormal miscarriage.

CONCLUSION

For women with three or more previous miscarriages, RPL couples with chromosomally normal miscarriage manifested a poorer reproductive prognosis than those with chromosomally abnormal miscarriage in subsequent pregnancy, while the cumulative live birth rate was similar. Advanced maternal age was a predictor of adverse pregnancy events, regardless of embryonic chromosomal results. Furthermore, among RPL women with large numbers of previous miscarriages, the supportive care and counselling regarding individual risk is necessary for those with chromosomally normal miscarriage.

摘要

背景

染色体微阵列分析(CMA)已广泛应用于探索复发性妊娠丢失(RPL)的遗传病因。然而,不同类型染色体异常流产的 RPL 夫妇的生殖预后仍不清楚。

目的

本研究主要评估通过 CMA 对妊娠产物(POC)进行遗传检测的 RPL 夫妇的生殖预后。

研究设计

在这项回顾性研究中,1101 对 RPL 夫妇因遗传检测而转诊至 POC 的 CMA。共有 830 对符合纳入标准的夫妇在索引性流产后至少随访 24 个月。检查了后续妊娠和累积妊娠中的活产率和不良妊娠事件发生率。

结果

对于有三次或更多次流产的夫妇,与染色体正常流产的夫妇相比,染色体异常流产的夫妇有更高的后续活产率(66.9%比 71.6%,P=0.040)。然而,染色体异常流产和正常流产的夫妇的累积活产率差异无统计学意义(82.7%比 80.2%,P=0.131)。高龄产妇的活产率显著下降(P<0.01),流产率增加(P<0.01),而无论流产是否为染色体正常。与染色体正常流产的 RPL 夫妇相比,在经历多次先前流产后,RPL 夫妇的后续妊娠和累积妊娠中的活产率显著下降,但染色体异常流产的夫妇则无显著差异。

结论

对于有三次或更多次先前流产的妇女,染色体正常流产的 RPL 夫妇在后续妊娠中的生殖预后较染色体异常流产的夫妇差,而累积活产率相似。高龄是不良妊娠结局的预测因素,与胚胎染色体结果无关。此外,对于有大量先前流产史的 RPL 妇女,对于染色体正常的流产妇女,有必要进行个体化风险的支持性护理和咨询。

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