Wang Ting, Wu Jing, Yang Jiexia, Lu Jian, Guo Li, Du Li, Yin Aihua
Medical Genetics Center, Guangdong Women and Children Health Care Hospital, Guangzhou, Guangdong 511442, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Feb 10;37(2):135-138. doi: 10.3760/cma.j.issn.1003-9406.2020.02.008.
To assess the value of non-invasive prenatal screening (NIPS) for the detection of fetal chromosome 16 aneuploidy through multi-method verification and follow-up of pregnancy outcomes.
From January 2016 to December 2017, 7972 pregnant women with singleton pregnancies accepted the NIPS test after 10th gestational week with informed consent. Those with fetal chromosome 16 abnormality suggestive by the NIPS test were subjected to prenatal diagnosis including chromosomal karyotyping and chromosomal microarray analysis (CMA).
Of the 7972 pregnant women tested by NIPS, 16 (0.2%) were predicted to have fetal chromosome 16 abnormality. The average age of the 16 pregnant women was 33.5 ± 5.24, and the average gestational week was 19.88±2.47. Chromosomal karyotyping verified that 3 fetuses had mosaicisms and 1 carried pericentric inversion of chromosome 9, which yielded a positive predictive value (PPV) of 18.8%. CMA has detected 7 fetuses with genomic abnormalities, which yielded a PPV of 43.8%. Eleven of the 16 women (68.8%) have given birth to healthy babies.
For pregnant women with a high risk of chromosome 16 aneuploidy suggested by NIPS, the prognosis of fetus should be evaluated by multiple methods. Compared with conventional karyotyping analysis, molecular methods such as CMA are far superior.
通过多种方法验证及随访妊娠结局，评估无创产前筛查（NIPS）检测胎儿16号染色体非整倍体的价值。
2016年1月至2017年12月，7972例单胎妊娠孕妇在妊娠10周后签署知情同意书接受NIPS检测。NIPS检测提示胎儿16号染色体异常的孕妇接受包括染色体核型分析和染色体微阵列分析（CMA）在内的产前诊断。
在7972例接受NIPS检测的孕妇中，16例（0.2%）被预测胎儿有16号染色体异常。这16例孕妇的平均年龄为33.5±5.24岁，平均孕周为19.88±2.47周。染色体核型分析证实3例胎儿为嵌合体，1例携带9号染色体臂间倒位，阳性预测值（PPV）为18.8%。CMA检测出7例胎儿有基因组异常，PPV为43.8%。16例孕妇中有11例（68.8%）分娩出健康婴儿。
对于NIPS提示16号染色体非整倍体高风险的孕妇，应采用多种方法评估胎儿预后。与传统核型分析相比，CMA等分子方法具有明显优势。
