Diagnostic cytogenetic testing following positive noninvasive prenatal screening results of sex chromosome abnormalities: Report of five cases and systematic review of evidence.,Molecular Genetics & Genomic Medicine

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Diagnostic cytogenetic testing following positive noninvasive prenatal screening results of sex chromosome abnormalities: Report of five cases and systematic review of evidence.
Molecular Genetics & Genomic Medicine ( IF 2 ) Pub Date : 2020-05-08 , DOI: 10.1002/mgg3.1297
Xiaolei Xie _{1,

2} , Weihe Tan ₂ , Fuguang Li ₂ , Eric Carrano _{1,

3} , Paola Ramirez _{1,

3} , Autumn DiAdamo ₁ , Brittany Grommisch ₁ , Katherine Amato ₁ , Hongyan Chai ₁ , Jiadi Wen ₁ , Peining Li ₁

Affiliation

Follow‐up cytogenetic analysis has been recommended for cases with positive noninvasive prenatal screening (NIPS) results. This study of five cases with numerical and structural sex chromosomal abnormalities (SCA) and a review of large case series of NIPS provided guidance to improve prenatal diagnosis for SCA.

中文翻译：

性染色体异常无创产前筛查结果呈阳性后进行诊断性细胞遗传学检测：五例报告和证据系统审查。

建议对无创产前筛查 (NIPS) 结果呈阳性的病例进行后续细胞遗传学分析。这项对 5 例数量和结构性染色体异常 (SCA) 病例的研究以及对 NIPS 大型病例系列的回顾为改进 SCA 的产前诊断提供了指导。

更新日期：2020-07-06

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