Detection of trisomies 13, 18 and 21 using non-invasive prenatal testing

Qiang,Rong; Cai,Na; Wang,Xiaobin; Wang,Lin; Cui,Ke; Wang,Wei; Wang,Xiang; Li,Xu

doi:10.3892/etm.2017.4272

Detection of trisomies 13, 18 and 21 using non-invasive prenatal testing

Authors:
- Rong Qiang
- Na Cai
- Xiaobin Wang
- Lin Wang
- Ke Cui
- Wei Wang
- Xiang Wang
- Xu Li
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Affiliations: Genetic Medical Center, Northwest Women and Children's Hospital, Xi'an, Shaanxi 710003, P.R. China, Shenzhen BGI Clinical Laboratory Center, Shenzhen, Guangdong 518083, P.R. China, Genetics and Department of Gynecology, The First Affiliated Hospital of Xi'an Jiaotong University, Xi'an, Shaanxi 710061, P.R. China, Center for Translational Medicine, The First Affiliated Hospital of Xi'an Jiaotong University, Xi'an, Shaanxi 710061, P.R. China
Published online on: March 28, 2017 https://doi.org/10.3892/etm.2017.4272
Pages: 2304-2310
Copyright: © Qiang et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

The clinical performance of non‑invasive prenatal testing (NIPT) in the Down's syndrome screening based on 1,901 pregnant women in a Chinese hospital was investigated. This was a retrospective analysis of NIPT study in singleton pregnancy (n=1,901). The NIPT test is offered routinely as a prenatal screening test for common fetal aneuploidies, including trisomy 13 (T13), T18 and T21 to pregnant women with risk factors of one or more anomalies. Maternal peripheral blood (5 ml) was collected in an ethylenediaminetetraacetic acid (EDTA) tube at a gestational age of 12+0 to 32+6 weeks. The samples were delivered at ‑80˚C to the certified Shenzhen BGI Clinical Laboratory Center. Sequencing data were analyzed using a proprietary algorithm. Women with positive NIPT results were recommended to receive karyotype analysis and amniotic fluid puncture for further validation. The cases were followed up for 56 days after delivery. All the patients underwent ultrasound examination, and the majority of patients (91.16%) showed normal findings. In contrast, 136 (7.15%) showed ultrasound anomalies. The most common anomaly was echogenic heart focus (n=80), accounting for 4.21% of the patients. Twenty‑two cases were classified by the NIPT to be positive for the T21 (n=15), T18 (n=5) and T13 (n=2), respectively, while the others (n=1,879) were classified to be NIPT negative cases. Among these cases, the fetal outcome data were obtained in 1,483 cases, while 396 were lost to follow-up. The majority of cases (75.47%) were normal at birth. Neonatal death was observed in 1 case. Five pregnant women decided termination of pregnancy despite the presence of NIPT negativity. In conclusion, NIPT technique is feasible for the prenatal screening of T18 and T21 with higher sensitivity and specificity compared with conventional methods.

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