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明显孤立性宫内生长受限中染色体畸变的风险:系统评价。

Risk for chromosomal aberrations in apparently isolated intrauterine growth restriction: A systematic review.

机构信息

Genetics Institute, Carmel Medical Center, Haifa, Israel.

Department of Obstetrics and Gynecology, Carmel Medical Center, Haifa, Israel.

出版信息

Prenat Diagn. 2017 Nov;37(11):1061-1066. doi: 10.1002/pd.5160. Epub 2017 Oct 15.

Abstract

OBJECTIVE

To perform a systematic review examining the risk of chromosomal aberrations in apparently isolated intrauterine growth restriction (IUGR).

METHODS

Search was conducted by research librarian in 5 databases. By independent screening of 2894 references, 2 investigators selected original studies examining the risk of chromosomal aberrations in apparently isolated IUGR diagnosed at the second and third trimesters by using ultrasound. We excluded studies describing IUGR combined with additional fetal anomalies detected by ultrasound and those where fetuses with structural anomalies or aneuploidy were not reported.

RESULTS

Fourteen observational cohort studies were found, encompassing 874 apparently isolated IUGR cases. Mean rate of chromosomal aberrations was 6.4%, ranging between 0% (in 3 studies) and 26.3%. Only 2 articles examined apparently isolated IUGR diagnosed in the third trimester, encompassing a total of 32 pregnancies. Invasive testing of these cases yielded normal karyotypes. A single article analyzed 137 second trimester IUGR pregnancies, reporting 2 abnormal karyotypes of minimal clinical significance. Overall quality of existing evidence was defined as "very low."

CONCLUSIONS

Due to a limited number of cases and insufficient quality of evidence, high-quality well standardized case-controlled trials should be conducted, further exploring the risk for chromosomal aberrations in pregnancies with isolated IUGR.

摘要

目的

对染色体异常风险进行系统评价,该风险与孤立性宫内生长受限(IUGR)有关。

方法

由研究图书馆员在 5 个数据库中进行搜索。通过对 2894 篇参考文献的独立筛选,2 位研究者选择了原始研究,这些研究通过超声检查,在第二和第三个三个月诊断出孤立性 IUGR,检查了染色体异常的风险。我们排除了那些描述了与超声检测到的其他胎儿异常相结合的 IUGR 的研究,以及那些没有报告胎儿结构异常或非整倍体的研究。

结果

共发现 14 项观察性队列研究,共包括 874 例孤立性 IUGR 病例。染色体异常的平均发生率为 6.4%,范围在 0%(在 3 项研究中)和 26.3%之间。只有 2 篇文章研究了在第三个三个月诊断出的孤立性 IUGR,总共包括 32 例妊娠。对这些病例进行的侵袭性检测得出了正常的核型。一篇文章分析了 137 例第二个三个月的 IUGR 妊娠,报告了 2 例最小临床意义的异常核型。现有证据的总体质量被定义为“极低”。

结论

由于病例数量有限,证据质量不足,应该进行高质量的、标准化的病例对照试验,进一步探索孤立性 IUGR 妊娠中染色体异常的风险。

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