Prenatal diagnosis, pregnancy determination and follow up of sex chromosome aneuploidy screened by non-invasive prenatal testing from 122 453 unselected singleton pregnancies: A retrospective analysis of 7-year experience

IF 1.3 4区 医学 Q3 PEDIATRICS
Xiaojin Luo, Weiqiang Liu, Liang Hu, Xiaoyi Cong, Xiaoyi Liu, Hongyan Niu, Fei Zhou, Gaochi Li, Lijuan Wen, Yanyun Guo
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引用次数: 0

Abstract

The phenotype of SCA patients are diversities, make prenatal counseling and parental decision-making following the prenatal diagnosis of SCA more complicated and challenging. NIPT has higher sensitivity and specificity in screening trisomy 21 syndrome, but the effectiveness of NIPT in detecting SCA is still controversial. This study is a large-scale retrospective cohort of positive SCA screened from unselected singleton pregnancies by non-invasive prenatal testing (NIPT) from a single prenatal center of a tertiary hospital. Clinical information, indications, diagnostic results, ultrasound findings, pregnancy determinations, and follow-up were reviewed and analyzed. 596 cases of SCA positive were screened out of 122 453, giving a positive detection rate of 0.49%. 510 cases (85.6%) conducted with amniocentesis to detect fetal chromosome, of which 236 were confirmed as true positive of SCA with PPV of 46.3% (236/510). Of the 236 cases confirmed as true positive SCA, 114 cases (48.3%)chose to terminate the pregnancy (93.0%, 65.3%, 15.4% and 10.9% for 45,X, 47,XXY, 47,XXX and 47,XYY, respectively), 122 cases (51.7%) elected to continue the pregnancy. In conclusions, NIPT as a first-tier routine method for screening autosomal aneuploidies, also could play an important role in screening SCA. Low-risk pregnant women are the main indication for the detection of SCA as NIPT test provides to non-selective population. For 47,XXX and 47,XYY with mild phenotype, couples would like to continue the pregnancy. But for 45,X and 47,XXY, parents apt to terminate pregnancy no matter ultrasound abnormalities were found or not.

从 122 453 例未经选择的单胎妊娠中,对通过无创产前检测筛查出的性染色体非整倍体进行产前诊断、妊娠确定和随访:7 年经验的回顾性分析。
SCA 患者的表型具有多样性,这使得产前诊断 SCA 后的产前咨询和父母决策变得更加复杂和具有挑战性。NIPT 在筛查 21 三体综合征方面具有较高的灵敏度和特异性,但 NIPT 在检测 SCA 方面的有效性仍存在争议。本研究是一项大规模的回顾性队列研究,研究对象是一家三甲医院的产前中心通过无创产前检测(NIPT)从未经选择的单胎妊娠中筛查出的SCA阳性患者。研究人员回顾并分析了临床信息、适应症、诊断结果、超声检查结果、妊娠判定和随访情况。在 122 453 例 SCA 阳性病例中筛选出 596 例,阳性检出率为 0.49%。510例(85.6%)进行了羊膜腔穿刺术检测胎儿染色体,其中236例被确诊为SCA真阳性,PPV为46.3%(236/510)。在确认为 SCA 真阳性的 236 例中,114 例(48.3%)选择终止妊娠(45,X、47,XXY、47,XXX 和 47,XYY 分别为 93.0%、65.3%、15.4% 和 10.9%),122 例(51.7%)选择继续妊娠。总之,NIPT 作为筛查常染色体非整倍体的一级常规方法,在筛查 SCA 方面也能发挥重要作用。低风险孕妇是检测 SCA 的主要适应症,因为 NIPT 检测提供给非选择性人群。对于表型轻微的 47,XXX 和 47,XYY,夫妇希望继续妊娠。但对于 45,X 和 47,XXY,无论是否发现超声波异常,父母都倾向于终止妊娠。
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来源期刊
Congenital Anomalies
Congenital Anomalies PEDIATRICS-
自引率
0.00%
发文量
49
审稿时长
>12 weeks
期刊介绍: Congenital Anomalies is the official English language journal of the Japanese Teratology Society, and publishes original articles in laboratory as well as clinical research in all areas of abnormal development and related fields, from all over the world. Although contributions by members of the teratology societies affiliated with The International Federation of Teratology Societies are given priority, contributions from non-members are welcomed.
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