用于筛查双胎妊娠常见三体综合征的无创产前检测
Non-invasive prenatal test to screen common trisomies in twin pregnancies.
作者信息
Motevasselian Mahtab, Saleh Gargari Soraya, Younesi Sarang, Pooransari Parichehr, Saadati Pourandokht, Mirzamoradi Masoomeh, Savad Shahram, Taheri Amin Mohammad Mahdi, Modarresi Mohammad-Hossein, Afrakhteh Maryam, Ghafouri-Fard Soudeh
机构信息
1Men's Health and Reproductive Health Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Prenatal Screening Department of Nilou Laboratory, Tehran, Iran.
出版信息
Mol Cytogenet. 2020 Feb 5;13:5. doi: 10.1186/s13039-020-0475-8. eCollection 2020.
OBJECTIVES
Recent years have witnessed a shift from invasive methods of prenatal screening to non-invasive strategies. Accordingly, non-invasive prenatal testing (NIPT) using cell-free fetal DNA in maternal plasma has gained a considerable deal of interest from both geneticists and obstetricians. Efficacy of this method in identification of common aneuploidies has been extensively assessed in singleton pregnancies. However, a limited number of studies have addressed the twin pregnancies. In this context, the present study is aimed at identification of the efficacy of NIPT in twin pregnancies.
METHODS
NIPT was performed on twin pregnancies to screen trisomies 13, 18 and 21. Pregnant women referring to Nilou Clinical Laboratory between March 2016 and December 2018 were included in this research.
RESULTS
In the current study, a total 356 twin pregnancies were screened in search for trisomies 13, 18 and 21. 6 cases exhibited positive NIPT results in which the presence of trisomies 13, 18 and 21 was confirmed by fetal karyotype in 1, 2 and 2 cases, respectively. One twin pregnancy showed normal karyotype. The combined false-positive rate for these trisomies was 0.28%. No false negative case was observed. The combined sensitivity and specificity of NIPT in twin pregnancies were 100 and 99.7%, respectively.
CONCLUSION
The results of the current study verify the feasibility, sensitivity and specificity of NIPT in twin pregnancies.
目的
近年来，产前筛查方法已从侵入性方法转向非侵入性策略。因此，利用母体血浆中游离胎儿DNA进行的无创产前检测（NIPT）引起了遗传学家和产科医生的广泛关注。该方法在单胎妊娠中识别常见非整倍体的有效性已得到广泛评估。然而，针对双胎妊娠的研究数量有限。在此背景下，本研究旨在确定NIPT在双胎妊娠中的有效性。
方法
对双胎妊娠进行NIPT以筛查13、18和21三体。本研究纳入了2016年3月至2018年12月期间转诊至尼鲁临床实验室的孕妇。
结果
在本研究中，共对356例双胎妊娠进行了13、18和21三体的筛查。6例NIPT结果呈阳性，其中13、18和21三体的存在分别在1例、2例和2例中通过胎儿核型得到证实。1例双胎妊娠核型正常。这些三体的综合假阳性率为0.28%。未观察到假阴性病例。NIPT在双胎妊娠中的综合敏感性和特异性分别为100%和99.7%。
结论
本研究结果证实了NIPT在双胎妊娠中的可行性、敏感性和特异性。
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