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Utility of whole exome sequencing in the etiological evaluation of nonimmune hydrops fetalis
https://doi.org/10.25557/2073-7998.2025.10.55-57
Abstract
The study of nonimmune hydrops fetalis (NIHF) is an important issue due to the high risk of adverse pregnancy outcomes. The aim of this work was to evaluate the diagnostic value of whole exome sequencing (WES) in the diagnosis of NIHF causes. WES was performed in 44 patients with NIHF. Pathogenic and likely pathogenic variants, which associated with the clinical phenotype, were found in 20 of 44 (45.5%) fetuses. This data made possible to choose further pregnancy management. The results of the work showed a high contribution of monogenic disorders to the etiology of NIFH.
About the Authors
A. S. Bolshakova
National Medical Research Center for Obstetrics, Gynecology and Perinatology named after Academician V.I.Kulakov
Russian Federation
Russian Federation
4, Acad. Oparin st., Moscow, 117997
J. Shubina
National Medical Research Center for Obstetrics, Gynecology and Perinatology named after Academician V.I.Kulakov
Russian Federation
Russian Federation
4, Acad. Oparin st., Moscow, 117997
E. R. Tolmacheva
National Medical Research Center for Obstetrics, Gynecology and Perinatology named after Academician V.I.Kulakov
Russian Federation
Russian Federation
4, Acad. Oparin st., Moscow, 117997
D. N. Maslennikov
National Medical Research Center for Obstetrics, Gynecology and Perinatology named after Academician V.I.Kulakov
Russian Federation
Russian Federation
4, Acad. Oparin st., Moscow, 117997
D. G. Lyushnina
National Medical Research Center for Obstetrics, Gynecology and Perinatology named after Academician V.I.Kulakov
Russian Federation
Russian Federation
4, Acad. Oparin st., Moscow, 117997
I. O. Sadelov
National Medical Research Center for Obstetrics, Gynecology and Perinatology named after Academician V.I.Kulakov
Russian Federation
Russian Federation
4, Acad. Oparin st., Moscow, 117997
N. V. Zaretskaya
National Medical Research Center for Obstetrics, Gynecology and Perinatology named after Academician V.I.Kulakov
Russian Federation
Russian Federation
4, Acad. Oparin st., Moscow, 117997
I. Yu. Barkov
National Medical Research Center for Obstetrics, Gynecology and Perinatology named after Academician V.I.Kulakov
Russian Federation
Russian Federation
4, Acad. Oparin st., Moscow, 117997
A. A. Dokshukina
National Medical Research Center for Obstetrics, Gynecology and Perinatology named after Academician V.I.Kulakov
Russian Federation
Russian Federation
4, Acad. Oparin st., Moscow, 117997
D. Yu. Trofimov
National Medical Research Center for Obstetrics, Gynecology and Perinatology named after Academician V.I.Kulakov
Russian Federation
Russian Federation
4, Acad. Oparin st., Moscow, 117997
References
1. Sparks T.N., Lianoglou B.R., Adami R.R., et al. Exome Sequencing for Prenatal Diagnosis in Nonimmune Hydrops Fetalis. N Engl J Med. 2020;383(18):1746-1756.
2. Society for Maternal-Fetal Medicine (SMFM), Norton ME, Chauhan SP, et al. Society for maternal-fetal medicine (SMFM) clinical guideline #7: nonimmune hydrops fetalis. Am J Obstet Gynecol. 2015;212(2):127-139.
3. Steurer M.A., Peyvandi S., Baer R.J., et al. Epidemiology of Live Born Infants with Nonimmune Hydrops Fetalis-Insights from a Population-Based Dataset. J Pediatr. 2017;187:182-188.e3.
4. Bellini C., Hennekam R.C. Non-immune hydrops fetalis: a short review of etiology and pathophysiology. Am J Med Genet A. 2012;158A(3):597-605.
5. Richards S., Aziz N., Bale S., et al.; ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American college of medical genetics and genomics and the association for molecular pathology. Genet Med 2015; 17(5): 405– 424.
6. Ryzhkova O.P., Kardymon O.L., Prohorchuk E.B., et al. Rukovodstvo po interpretatsii dannykh posledovatel’nosti DNK cheloveka, poluchennykh metodami massovogo parallel’nogo sekvenirovaniya (MPS) (redaktsiya 2018, versiya 2) [Guidelines for the interpretation of massive parallel sequencing variants (update 2018, v2)]. Meditsinskaya genetika [Medical Genetics]. 2019;18(2):3- 23. (In Russ.)
7. Sukhikh G.T., Trofimov D.Yu., Shubina J., et al. Metodicheskiye rekomendatsii «Primeneniye vysokoproizvoditel’nogo sekvenirovaniya i molekulyarnogo kariotipirovaniya na mikromatritsakh v prenatal’nyy period» [Methodological recommendations «Use of prenatal high-throughput sequencing and microarray-based molecular karyotyping»]. Akusherstvo i ginekologiya [Obstetrics and Gynecology]. 2024; (3 Suppl.): 25-43 (In Russ.) https://dx.doi.org/10.18565/aig.2024.52
8. Mone F., Eberhardt R.Y., Hurles M.E., et al. Fetal hydrops and the Incremental yield of Next-generation sequencing over standard prenatal Diagnostic testing (FIND) study: prospective cohort study and meta-analysis. Ultrasound Obstet Gynecol. 2021;58(4):509-518.
9. Correa A.R.E., Naini K., Mishra P., et al. Utility of fetal whole exome sequencing in the etiological evaluation and outcome of nonimmune hydrops fetalis. Prenat Diagn. 2021;41(11):1414-1424. doi:10.1002/pd.6022.
Review
For citations:
Bolshakova A.S., Shubina J., Tolmacheva E.R., Maslennikov D.N., Lyushnina D.G., Sadelov I.O., Zaretskaya N.V., Barkov I.Yu., Dokshukina A.A., Trofimov D.Yu. Utility of whole exome sequencing in the etiological evaluation of nonimmune hydrops fetalis. Medical Genetics. 2025;24(10):55-57. (In Russ.) https://doi.org/10.25557/2073-7998.2025.10.55-57
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