利用半导体测序平台（SSP）在中国南方进行胎儿性染色体异常的非侵入性产前检测。
Noninvasive prenatal detection of fetal sex chromosome abnormalities using the semiconductor sequencing platform (SSP) in Southern China.
机构信息
Department of Medical Genetics Center, Guangdong Women and Children Hospital, Guangzhou, China.
Department of Prenatal Diagnosis Center, Guangdong Women and Children Hospital, No. 521 Xingnan Road, Panyu District, Guangzhou, 511400, China.
出版信息
J Assist Reprod Genet. 2021 Mar;38(3):727-734. doi: 10.1007/s10815-020-02056-2. Epub 2021 Feb 10.
BACKGROUND
Noninvasive prenatal testing (NIPT) has been widely used to screen for fetal aneuploidies, including fetal sex chromosome aneuploidies (SCAs). However, there is less information on the performance of NIPT in detecting SCAs.
METHODS
A cohort of 47,800 pregnancies was recruited to review the high-risk NIPT results for SCAs. Cell-free fetal DNA (cffDNA) was extracted and sequenced. All NIPT high-risk cases were recommended to undergo invasive prenatal diagnosis for karyotyping analysis and chromosome microarray analysis (CMA).
RESULTS
A total of 238 high-risk cases were detected by NIPT, including 137 cases of 45,X, 27 cases of 47,XXX, and 74 cases of 47,XYY/47,XXY. Prenatal diagnosis, including karyotyping analysis and CMA, was available in 170 cases. The positive predictive value (PPV) was 30.00% for 45,X, 70.58% for 47,XXX, and 81.13% for 47,XYY/47,XXY. In addition, 13 cases of sex chromosome mosaicism and 9 cases of sex chromosome CNVs were incidentally found in this study.
CONCLUSION
Our study showed that NIPT was reliable for screening SCAs based on a large sample, and it performed better in predicting sex chromosome trisomies than monosomy X. Our study will provide an important reference for clinical genetic counseling and further processing of the results.
背景
非侵入性产前检测（NIPT）已被广泛用于筛查胎儿非整倍体，包括胎儿性染色体非整倍体（SCAs）。然而，关于 NIPT 在检测 SCA 方面的性能的信息较少。
方法
一项纳入 47800 例妊娠的队列研究，旨在回顾 SCAs 的高危 NIPT 结果。提取并测序游离胎儿 DNA（cffDNA）。所有 NIPT 高风险病例均建议进行有创性产前诊断，进行核型分析和染色体微阵列分析（CMA）。
结果
NIPT 共检测到 238 例高风险病例，包括 137 例 45，X、27 例 47，XXX 和 74 例 47，XYY/47，XXY。170 例可进行产前诊断，包括核型分析和 CMA。45，X 的阳性预测值（PPV）为 30.00%，47，XXX 为 70.58%，47，XYY/47，XXY 为 81.13%。此外，本研究还意外发现 13 例性染色体嵌合体和 9 例性染色体 CNV。
结论
我们的研究表明，NIPT 基于大样本筛查 SCA 是可靠的，其预测性染色体三体的性能优于 X 单体。本研究将为临床遗传咨询和结果的进一步处理提供重要参考。
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