Department of Gynecology and Obstetrics, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) San Raffaele Hospital, Vita-Salute San Raffaele University, Milan, Italy.
Division of Obstetrics and Prenatal Medicine, Department of Medicine and Surgery, (DIMEC) IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.
Am J Obstet Gynecol. 2022 Nov;227(5):714-727.e1. doi: 10.1016/j.ajog.2022.07.034. Epub 2022 Aug 4.
This study aimed to assess the rate of adverse obstetrical and neonatal outcomes in pregnancies diagnosed with confined placental mosaicism relative to that of unaffected controls.
Web-based databases were searched using relevant key words, and articles published from 1980 to February 2022 were retrieved.
Observational studies in English language including ≥10 cases of singleton pregnancies with diagnosis of confined placental mosaicism were included. The diagnosis was established after detection of any chromosomal abnormality at chorionic villus sampling for any indication, followed by normal karyotype from amniotic fluid or neonatal leukocyte culture.
Two authors independently screened the references for eligibility, data extraction, and assessment of methodological quality using the Newcastle-Ottawa scale. All available obstetrical and neonatal outcomes were recorded. Random-effect meta-analysis was performed to estimate pooled odds ratios and 95% confidence intervals of available outcomes in pregnancies with and without confined placental mosaicism. Statistical heterogeneity was evaluated with I statistics (International Prospective Register of Systematic Reviews registration number: CRD42021260319).
Of the 80 articles reviewed, 8 retrospective matched-cohort studies (708 cases of confined placental mosaicism and 11,599 unaffected controls) compared cases with and without confined placental mosaicism and were included in the meta-analysis. The risk of delivering small-for-gestational-age neonates was significantly increased in confined placental mosaicism pregnancies according to crude analysis (odds ratio, 2.45; 95% confidence interval, 1.23-4.89; I=72%) and to sensitivity analysis of high-quality studies (odds ratio, 3.65; 95% confidence interval, 2.43-5.57; I=0%). Similarly, confined placental mosaicism resulted in an increased risk of birthweight below the third centile (odds ratio, 5.33; 95% confidence interval, 1.19-24.19; I= 83%). Subgroup analysis revealed that the risk of delivering small-for-gestational-age neonates was 3-fold higher for confined placental mosaicism excluding trisomy 16, and 11-fold higher for cases including trisomy 16 only vs unaffected controls, respectively. No difference was found in the risk of low birthweight and preterm birth (at <37 weeks' gestation). Other outcomes were insufficiently reported, therefore they were not analyzed.
Pregnant women prenatally diagnosed with confined placental mosaicism have an increased risk of impaired fetal growth, suggesting the need for intensified antenatal surveillance.
本研究旨在评估与未受影响的对照组相比,诊断为局限性胎盘嵌合体的妊娠的不良产科和新生儿结局发生率。
使用相关关键词在网络数据库中进行搜索,并检索了 1980 年至 2022 年 2 月发表的文章。
纳入≥10 例经绒毛膜绒毛取样诊断为局限性胎盘嵌合体的单胎妊娠的英文观察性研究。诊断依据为:在因任何原因进行绒毛膜绒毛取样检测时发现任何染色体异常,随后羊水或新生儿白细胞培养显示正常核型。
两位作者独立筛选参考文献,使用纽卡斯尔-渥太华量表评估方法学质量、提取数据。记录所有可用的产科和新生儿结局。采用随机效应荟萃分析估计局限性胎盘嵌合体和无局限性胎盘嵌合体妊娠中可用结局的合并比值比和 95%置信区间。采用 I ² 统计量(国际前瞻性注册系统评价注册编号:CRD42021260319)评估统计异质性。
在 80 篇综述文章中,有 8 项回顾性匹配队列研究(708 例局限性胎盘嵌合体和 11599 例未受影响的对照组)比较了局限性胎盘嵌合体和无局限性胎盘嵌合体的病例,并纳入荟萃分析。根据粗分析(比值比,2.45;95%置信区间,1.23-4.89;I=72%)和高质量研究的敏感性分析(比值比,3.65;95%置信区间,2.43-5.57;I=0%),局限性胎盘嵌合体妊娠中小于胎龄儿的风险显著增加。同样,局限性胎盘嵌合体导致出生体重低于第三百分位的风险增加(比值比,5.33;95%置信区间,1.19-24.19;I=83%)。亚组分析显示,排除 16 三体的局限性胎盘嵌合体的小于胎龄儿风险增加 3 倍,仅包括 16 三体的局限性胎盘嵌合体与未受影响的对照组相比风险增加 11 倍,而出生体重低和早产(<37 周)的风险无差异。其他结局报告不足,因此未进行分析。
产前诊断为局限性胎盘嵌合体的孕妇胎儿生长受损风险增加,提示需要加强产前监测。