Wang Leilei, Meng Qian, Tang Xinxin, Yin Ting, Zhang Jinglu, Yang Shuting, Wang Xuyun, Wu Haiqian, Shi Qingxi, Jenkins Edmund C, Zhong Nanbert, Gu Ying
Department of Prenatal Diagnosis, Lianyungang Maternal and Child Health Hospital, Lianyungang, Jiangsu 222001, China.
Department of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, NY 10314, USA.
Taiwan J Obstet Gynecol. 2015 Oct;54(5):527-31. doi: 10.1016/j.tjog.2014.10.009.
To investigate the clinical efficiency of noninvasive prenatal test (NIPT) identifying fetal chromosomal aneuploidies.
In the present study, 917 women with high-risk pregnancies were invited to participate in an NIPT trial based on an Illumina HiSeq massively parallel sequencing platform. Abnormal cases in NIPT were validated by karyotyping and fluorescence in situ hybridization (FISH) analysis. All of the participants' infants were examined clinically and followed up for at least 6 months.
A total of 35 (3.82%) high-risk pregnancies were detected with abnormal results in NIPT, which included 25 cases (2.73%) of trisomy 21 (Tri21), four cases (0.44%) of trisomy 18 (Tri18), four cases (0.44%) of Turner syndrome (45, X), one cases (0.11%) of Klinefelter's syndrome (47, XXY), and one cases (0.11%) with lower X chromosome concentration. Further validation indicated that one case of Tri18 and the case with lower X chromosome concentration were false positive results (0.22%) in NIPT. Furthermore, it was found that the false positive case with lower X chromosome concentration in NIPT was caused by maternal sex chromosomal mosaicism (45, X and 46, XX).
Our findings indicated that maternal mosaicism of sex chromosome could cause discordant sex chromosomal aneuploidies associated with NIPT. We highly recommended that maternal karyotype should be confirmed for the cases with abnormal results in NIPT.
探讨无创产前检测（NIPT）识别胎儿染色体非整倍体的临床效能。
在本研究中，邀请了917例高危妊娠妇女参与基于Illumina HiSeq大规模平行测序平台的NIPT试验。NIPT检测出的异常病例通过核型分析和荧光原位杂交（FISH）分析进行验证。所有参与者的婴儿均进行了临床检查，并随访至少6个月。
NIPT共检测出35例（3.82%）高危妊娠结果异常，其中21三体（Tri21）25例（2.73%），18三体（Tri18）4例（0.44%），特纳综合征（45,X）4例（0.44%），克兰费尔特综合征（47,XXY）1例（0.11%），X染色体浓度降低1例（0.11%）。进一步验证表明，1例Tri18和1例X染色体浓度降低的病例为NIPT假阳性结果（0.22%）。此外，发现NIPT中X染色体浓度降低的假阳性病例是由母亲性染色体嵌合体（45,X和46,XX）引起的。
我们的研究结果表明，母亲性染色体嵌合可能导致与NIPT相关的不一致性性染色体非整倍体。我们强烈建议对NIPT结果异常的病例进行母亲核型确认。
