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复发性流产与胎儿先天畸形:是否存在被忽视的因果关联?

Recurrent miscarriage and fetal congenital malformations: Is there a neglected causal association?

机构信息

Fondazione Policlinico Universitario A. Gemelli IRCCS, U.O.C. di Ostetricia e Patologia Ostetrica, Dipartimento Scienze della Salute della Donna, del Bambino e di Sanità Pubblica, 00168, Rome, Italy.

Fondazione Policlinico Universitario A. Gemelli IRCCS, U.O.C. di Ostetricia e Patologia Ostetrica, Dipartimento Scienze della Salute della Donna, del Bambino e di Sanità Pubblica, 00168, Rome, Italy.

出版信息

Eur J Obstet Gynecol Reprod Biol. 2020 May;248:233-237. doi: 10.1016/j.ejogrb.2020.03.016. Epub 2020 Mar 7.

DOI:10.1016/j.ejogrb.2020.03.016
PMID:32259737
Abstract

OBJECTIVE

The aim of the present study is to investigate the correlation between pregnancies complicated by morphological or chromosomal fetal anomalies and an obstetric history of two or more pregnancy losses, analyzing the association with any maternal risk factor.

STUDY DESIGN

Retrospective analysis of women who had access to the Day Hospital Clinic of Fondazione Policlinico Universitario A. Gemelli IRCCS in Rome from 2012 to 2018 for a pregnancy complicated by fetal malformation and/or abnormal karyotype, and who had an obstetric history of at least one pregnancy loss. Patients were divided into four groups depending on the number of miscarriages and the presence of a genetic anomaly: Group 0 included women with <2 miscarriages and fetal malformations, Group 1 included women with ≥2 miscarriages and fetal malformations, Group 2 included women with <2 abortion, fetal malformations and the presence of genetic anomalies; Group 3 included women with 2 ≥ abortions, fetal malformations and genetic anomalies. Statistical analysis was performed using the SAS v. 9.4 (SAS Institute Inc., Cary, NC, USA).

RESULTS

A total of 466 patients were included in the present analysis. Out of these, 379 patients belonged to Group 0; 40 patients entered in Group 1; Group 2 included 42 patients, and 5 patients were part of Group 3. Pregnancies complicated by fetal congenital malformations in patients with two or more pregnancy losses were significantly associated with maternal trombophilic disease and previous birth defects. Recurrent miscarriage and fetal structural anomalies were also significantly correlated with advanced maternal age.

CONCLUSIONS

An adequate periconceptional counseling regarding the risk of fetal congenital anomalies may be indicated in patients affected by thrombophilic disease, as well as in those of advanced maternal age and with a pregnancy history of fetal malformations. The screening for thrombophilia may be advisable in patients with an obstetric history of congenital birth defects.

摘要

目的

本研究旨在探讨形态学或染色体胎儿异常合并两次或以上妊娠丢失的产科病史之间的相关性,分析与任何母体危险因素的关联。

研究设计

对 2012 年至 2018 年在罗马 Fondazione Policlinico Universitario A. Gemelli IRCCS 日间病房诊所就诊的因胎儿畸形和/或异常核型而妊娠的妇女进行回顾性分析,这些妇女至少有一次妊娠丢失的产科病史。患者根据流产次数和是否存在遗传异常分为四组:第 0 组包括流产次数<2 次且胎儿畸形的妇女,第 1 组包括流产次数≥2 次且胎儿畸形的妇女,第 2 组包括流产次数<2 次、胎儿畸形且存在遗传异常的妇女;第 3 组包括流产次数≥2 次、胎儿畸形且存在遗传异常的妇女。统计分析采用 SAS v. 9.4(SAS Institute Inc., Cary,NC,USA)进行。

结果

本分析共纳入 466 例患者。其中 379 例患者属于第 0 组,40 例患者属于第 1 组,第 2 组包括 42 例患者,5 例患者属于第 3 组。在两次或以上妊娠丢失的患者中,胎儿先天性畸形合并妊娠与母体血栓形成倾向疾病和先前的出生缺陷显著相关。复发性流产和胎儿结构异常也与高龄产妇显著相关。

结论

对于患有血栓形成倾向疾病、高龄产妇以及有胎儿畸形妊娠史的患者,可能需要进行充分的围孕期咨询,以告知胎儿先天性畸形的风险。对于有产科先天性出生缺陷病史的患者,可能需要进行血栓形成倾向筛查。

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