Chromosomal abnormalities in nonimmune hydrops fetalis: diagnosis and management of pregnancy
- Authors: Lyushnina D.G.1, Tetruashvili N.K.1, Shubina J.1, Rogacheva M.S.1, Zaretskaya N.V.1, Bolshakova A.S.1, Barkov I.Y.1, Sadelov I.O.1, Pak V.S.1, Bokeriya E.L.1, Trofimov D.Y.1
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Affiliations:
- Academician V.I. Kulakov National Medical Research Centre for Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia
- Issue: No 7 (2024)
- Pages: 66-73
- Section: Original Articles
- URL: https://journals.eco-vector.com/0300-9092/article/view/635285
- DOI: https://doi.org/10.18565/aig.2024.75
- ID: 635285
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Abstract
Objective: To study the role of chromosomal abnormalities and optimal methods for their genetic testing in patients diagnosed with nonimmune hydrops fetalis (NIHF).
Materials and methods: After perinatal consultation and genetic counselling, 43 pregnant women with NIHF were selected; they underwent invasive prenatal diagnosis at 15 to 30 weeks’ gestation. The quantitative fluorescence polymerase chain reaction (QF-PCR) method was used in the first step of testing fetal material to detect abnormalities of chromosomes 13, 18, 21, X, Y. Molecular karyotyping using DNA microarrays was performed in the second step.
Results: The patients were divided into three groups according to the period of NIHF manifestation: group 1 included patients with manifestation of the disease up to 13+6 weeks, group 2 included patients with manifestation from 14 to 21+6 weeks, and group 3 included patients with manifestation from 22 weeks. Chromosomal abnormalities were found to be the most common cause of NIHF in group 1 (78.5%) and were associated with a higher risk of perinatal loss. Live births were noted only in 2 out of 14 cases with early manifestation of NIHF in patients with normal fetal karyotypes. A total of 11/43 (25.6%) patients had chromosomal abnormalities, including Turner syndrome (13.9%), Down syndrome (6.9%), Edwards syndrome (2.3%), and DiGeorge syndrome (2.3%). No chromosomal abnormalities were diagnosed in patients with manifestation of NIHF after 14 weeks, and it was associated with a higher live birth rate.
Conclusion: This study demonstrated the need for invasive prenatal diagnosis, the place and advantages of each of the methods for genetic testing performed prenatally in case of NIHF. The findings of genetic testing are relevant for counselling couples about the prognosis of current pregnancies and for assessing the risk of NIHF recurrence in subsequent pregnancies in a given family.
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About the authors
Daria G. Lyushnina
Academician V.I. Kulakov National Medical Research Centre for Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia
Author for correspondence.
Email: d_lyushnina@oparina4.ru
ORCID iD: 0009-0004-3160-8737
PhD student
Russian Federation, MoscowNana K. Tetruashvili
Academician V.I. Kulakov National Medical Research Centre for Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia
Email: tetrauly@mail.ru
ORCID iD: 0000-0002-9201-2281
PhD, Нead of the Obstetric Department of Pregnancy Pathology No. 2
Russian Federation, MoscowJekaterina Shubina
Academician V.I. Kulakov National Medical Research Centre for Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia
Email: e_shubina@oparina4.ru
ORCID iD: 0000-0003-4383-7428
PhD (Bio), Head of Laboratory of Genomic Data Analysis
Russian Federation, MoscowMargarita S. Rogacheva
Academician V.I. Kulakov National Medical Research Centre for Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia
Email: m_rogacheva@oparina4.ru
ORCID iD: 0000-0002-2495-2554
Researcher at the Laboratory of Genomic Data Analysis
Russian Federation, MoscowNadezhda V. Zaretskaya
Academician V.I. Kulakov National Medical Research Centre for Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia
Email: znadezda@yandex.ru
ORCID iD: 0000-0001-6754-3833
PhD, Head of the Laboratory of Clinical Genetics of the Department of Clinical Genetics
Russian Federation, MoscowAnna S. Bolshakova
Academician V.I. Kulakov National Medical Research Centre for Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia
Email: a_bolshakova@oparina4.ru
ORCID iD: 0000-0002-7508-0899
MD, geneticist at the Department of Clinical Genetics
Russian Federation, MoscowIlya Y. Barkov
Academician V.I. Kulakov National Medical Research Centre for Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia
Email: i_barkov@oparina4.ru
ORCID iD: 0000-0001-6297-2073
PhD, Head of the Laboratory of Prenatal DNA Screening
Russian Federation, MoscowIgor O. Sadelov
Academician V.I. Kulakov National Medical Research Centre for Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia
Email: i_sadelov@oparina4.ru
ORCID iD: 0000-0002-5144-6307
MD, geneticist at the Laboratory of Genomic Data Analysis
Russian Federation, MoscowViktoriia S. Pak
Academician V.I. Kulakov National Medical Research Centre for Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia
Email: v_pak@oparina4.ru
ORCID iD: 0009-0002-1444-9071
PhD student
Russian Federation, MoscowEkaterina L. Bokeriya
Academician V.I. Kulakov National Medical Research Centre for Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia
Email: e_bokeriya@oparina4.ru
ORCID iD: 0000-0002-8898-9612
PhD, Researcher at the Department of Pathology of Newborn and Prematurely-born Children No. 2
Russian Federation, MoscowDmitrii Y. Trofimov
Academician V.I. Kulakov National Medical Research Centre for Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia
Email: d_trofimov@oparina4.ru
ORCID iD: 0000-0002-1569-8486
Dmitrii Yu. Trofimov, PhD (Bio), Head of the Department of Clinical Genetics
Russian Federation, MoscowReferences
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