Application of noninvasive prenatal screening for aneuploidies in multiple pregnancies
- Authors: Barkov I.Y.1, Bolshakova A.S.1, Tetruashvili N.K.1, Shubina J.1, Goltsov A.Y.1, Trofimov D.Y.1
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Affiliations:
- Academician V.I. Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, Ministry of Health of the Russian Federation
- Issue: No 2 (2024)
- Pages: 44-50
- Section: Original Articles
- URL: https://journals.eco-vector.com/0300-9092/article/view/631353
- DOI: https://doi.org/10.18565/aig.2024.26
- ID: 631353
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Abstract
Relevance: Noninvasive prenatal screening (NIPS) for aneuploidies in maternal blood is a highly sensitive and specific method for screening trisomies 21, 18, and 13, as well as sex chromosome aneuploidies in singleton pregnancies. Although the use of NIPS in multiple pregnancies appears promising, the number of published studies on this subject is limited.
Objective: This study aimed to investigate the feasibility of detecting trisomy 21 using NIPS in multiple pregnancies.
Materials and methods: This study included 89 pregnant women with twins and one pregnant woman with triplets who underwent NIPS between May 2018 and December 2023 using high-throughput sequencing to identify common aneuploidies in their fetuses.
Results: The study identified a high risk of trisomy 21 in 6 cases, including 4 cases in the fetuses of dichorionic twins, one case possibly in a fetus of monochorionic twins, and one case in a fetus of trichorionic triplets. In five cases, the results were confirmed, and in one case there was the death of one of the fetuses in a twin pregnancy. Seventy-three patients with low risk according to the NIPS gave birth to phenotypically healthy children. The study showed that NIPS had almost 100% sensitivity and specificity for the detection of trisomy 21 in multiple pregnancies. The risk for major aneuploidies could not be assessed in only six patients (6.7%) due to low fetal fractions at the time of repeat blood sampling.
Conclusion: This study demonstrated the high accuracy of NIPS for trisomy 21, suggesting that NIPS could be offered to all pregnant women with twins. The introduction of this technology into clinical practice will likely improve the management of pregnant women with multiple gestations and, consequently, enhance perinatal outcomes in this group of patients.
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About the authors
Ilya Yu. Barkov
Academician V.I. Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, Ministry of Health of the Russian Federation
Author for correspondence.
Email: i_barkov@oparina4.ru
MD, PhD, Head of the Laboratory of Prenatal DNA Screening
Russian Federation, 117997, Moscow, Ac. Oparina str., 4Anna S. Bolshakova
Academician V.I. Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, Ministry of Health of the Russian Federation
Email: a_bolshakova@oparina4.ru
MD, Geneticist, Department of Clinical Genetics
Russian Federation, 117997, Moscow, Ac. Oparina str., 4Nana K. Tetruashvili
Academician V.I. Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, Ministry of Health of the Russian Federation
Email: tetrauly@mail.ru
Dr.Med. Sci., Head of the Department of Pregnancy Loss Prevention and Therapy
Russian Federation, 117997, Moscow, Ac. Oparina str., 4Jekaterina Shubina
Academician V.I. Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, Ministry of Health of the Russian Federation
Email: e_shubina@oparina4.ru
PhD in Biology, Head of the Laboratory of Genomic Data Analysis
Russian Federation, 117997, Moscow, Ac. Oparina str., 4Andrey Yu. Goltsov
Academician V.I. Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, Ministry of Health of the Russian Federation
Email: a_goltsov@oparina4.ru
Researcher at the Clinical and Molecular Genetics Department
Russian Federation, 117997, Moscow, Ac. Oparina str., 4Dmitry Yu. Trofimov
Academician V.I. Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, Ministry of Health of the Russian Federation
Email: d_trofimov@oparina4.ru
Dr.Bio. Sci., Corresponding member of the RAS, Head of the Clinical and Molecular Genetics Department
Russian Federation, 117997, Moscow, Ac. Oparina str., 4References
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