Chromosomal abnormalities in nonimmune hydrops fetalis: diagnosis and management of pregnancy
- Autores: 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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Afiliações:
- Academician V.I. Kulakov National Medical Research Centre for Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia
- Edição: Nº 7 (2024)
- Páginas: 66-73
- Seção: 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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Resumo
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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Sobre autores
Daria Lyushnina
Academician V.I. Kulakov National Medical Research Centre for Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia
Autor responsável pela correspondência
Email: d_lyushnina@oparina4.ru
ORCID ID: 0009-0004-3160-8737
PhD student
Rússia, MoscowNana 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
Rússia, 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
Rússia, MoscowMargarita 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
Rússia, MoscowNadezhda 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
Rússia, MoscowAnna 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
Rússia, MoscowIlya 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
Rússia, MoscowIgor 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
Rússia, MoscowViktoriia 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
Rússia, MoscowEkaterina 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
Rússia, MoscowDmitrii 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
Rússia, MoscowBibliografia
- Guo D., He S., Lin N., Dai Y., Li Y., Xu L. et al. Genetic disorders and pregnancy outcomes of non-immune hydrops fetalis in a tertiary referral center. BMC Med. Genomics. 2023; 16(1): 83. https://dx.doi.org/10.1186/s12920-023-01505-y.
- Norton M.E., Chauhan S.P., Dashe J.S.; Society for Maternal-Fetal Medicine (SMFM). Society for maternal-fetal medicine (SMFM) clinical guideline #7: nonimmune hydrops fetalis. Am. J. Obstet. Gynecol. 2015; 212(2): 127-39. https://dx.doi.org/10.1016/j.ajog.2014.12.018.
- Iskaros J., Jauniaux E., Rodeck C. Outcome of nonimmune hydrops fetalis diagnosed during the first half of pregnancy. Obstet. Gynecol. 1997; 90(3): 321-5. https://dx.doi.org/10.1016/s0029-7844(97)00290-1.
- Sparks T.N., Lianoglou B.R., Adami R.R., Pluym I.D., Holliman K., Duffy J. et al.; University of California Fetal-Maternal Consortium; University of California, San Francisco Center for Maternal-Fetal Precision Medicine. Exome sequencing for prenatal diagnosis in nonimmune hydrops fetalis. N. Engl. J. Med. 2020; 383(18):1746-56. https://dx.doi.org/10.1056/ NEJMoa2023643.
- Кадырбердиева Ф.З., Шмаков Р.Г., Бокерия Е.Л., Тетруашвили Н.К., Костюков К.В., Донников А.Е., Белоусов Д.М. Неиммунная водянка плода: основные причины. Акушерство и гинекология. 2019; 11: 186-91. [Kadyrberdieva F.Z., Shmakov R.G., Bokeriya E.L., Tetruashvili N.K., Kostyukov K.V., Donnikov A.E., Belousov D.M. Nonimmune hydrops fetalis: main causes. Obstetrics and Gynecology. 2019; (11): 186-91. (in Russian)]. https://dx.doi.org/10.18565/aig.2019.11.186-191.
- Cherian A.G., Kamath V., Srivastava V., Danda S., Sebastian T., Beck M.M. Spectrum of chromosomal abnormalities detected by conventional cytogenetic analysis following invasive prenatal testing of fetuses with abnormal ultrasound scans. J. Obstet. Gynaecol. India. 2022; 72(Suppl. 1): 209-16. https://dx.doi.org/10.1007/s13224-022-01626-x.
- Beke A., Joó J.G., Csaba A., Lázár L., Bán Z., Papp C. et al. Incidence of chromosomal abnormalities in the presence of fetal subcutaneous oedema, such as nuchal oedema, cystic hygroma and non-immune hydrops. Fetal Diagn. Ther. 2009; 25(1): 83-92. https://dx.doi.org/10.1159/ 000201946.
- Laterre M., Bernard P., Vikkula M., Sznajer Y. Improved diagnosis in nonimmune hydrops fetalis using a standardized algorithm. Prenat. Diagn. 2018; 38(5): 337-43. https://dx.doi.org/10.1002/pd.5243.
- He S., Wang L., Pan P., Wei H., Meng D., Du J. et al. Etiology and perinatal outcome of nonimmune hydrops fetalis in Southern China. AJP Rep. 2017; 7(2): e111-e115. https://dx.doi.org/10.1055/s-0037-1603890.
- Heinonen S., Ryynänen M., Kirkinen P. Etiology and outcome of second trimester non-immunologic fetal hydrops. Acta Obstet. Gynecol. Scand. 2000; 79(1): 15-8.
- Hutchison A.A., Drew J.H., Yu V.Y., Williams M.L., Fortune D.W., Beischer N.A. Nonimmunologic hydrops fetalis: a review of 61 cases. Obstet. Gynecol. 1982; 59(3): 347-52.
- Meng D., Li Q., Hu X., Wang L., Tan S., Su J. et al. Etiology and outcome of non-immune hydrops fetalis in Southern China: report of 1004 cases. Sci. Rep. 2019; 9(1): 10726. https://dx.doi.org/10.1038/s41598-019-47050-6.
- Derderian S.C., Jeanty C., Fleck S.R., Cheng L.S., Peyvandi S., Moon-Grady A.J. et al. The many faces of hydrops. J. Pediatr. Surg. 2015; 50(1): 50-4; discussion 54. https://dx.doi.org/10.1016/j.jpedsurg.2014.10.027.
- Berger V.K., Sparks T.N., Jelin A.C., Derderian C., Jeanty C., Gosnell K. et al. Non-immune hydrops fetalis: do placentomegaly and polyhydramnios matter? J. Ultrasound Med. 2018; 37(5):1185-91. https://dx.doi.org/10.1002/ jum.14462.
- Gedikbasi A., Oztarhan K., Gunenc Z., Yildirim G., Arslan O., Yildirim D. et al. Preeclampsia due to fetal non-immune hydrops: mirror syndrome and review of literature. Hypertens. Pregnancy. 2011; 30(3): 322-30. https://dx.doi.org/ 10.3109/10641950903323244.
- Кадырбердиева Ф.З., Шмаков Р.Г., Бокерия Е.Л., Костюков К.В. Тетруашвили Н.К. Эффективность применения алгоритма обследования на антенатальном этапе при неиммунной водянке плода. Акушерство и гинекология. 2020; 7: 71-8. [Kadyrberdieva F.Z., Shmakov R.G., Bokeriya E.L., Kostyukov K.V., Tetruashvili N.K. The effectiveness of the antenatal examination algorithm for nonimmune hydrops fetalis. Obstetrics and Gynecology. 2020; (7): 71-8. (in Russian)]. https://dx.doi.org/10.18565/aig.2020.7.71-78.
- Chainarong N., Muangpaisarn W., Suwanrath C. Etiology and outcome of non-immune hydrops fetalis in relation to gestational age at diagnosis and intrauterine treatment. J. Perinatol. 2021; 41(10): 2544-8. https://dx.doi.org/10.1038/s41372-021-01202-7.
- Faucett W.A., Savage M. Chromosomal microarray testing. JAAPA. 2012; 25(1): 65-6. https://dx.doi.org/10.1097/01720610-201201000-00016.
- Sileo F.G., Kulkarni A., Branescu I., Homfray T., Dempsey E., Mansour S. et al. Non-immune fetal hydrops: etiology and outcome according to gestational age at diagnosis. Ultrasound Obstet. Gynecol. 2020; 56(3): 416-21. https://dx.doi.org/10.1002/uog.22019.
- Al-Kouatly H.B., Shivashankar K., Mossayebi M.H., Makhamreh M., Critchlow E., Gao Z. et al. Diagnostic yield from prenatal exome sequencing for non-immune hydrops fetalis: a systematic review and meta-analysis. Clin. Genet. 2023; 103(5): 503-12. https://dx.doi.org/10.1111/cge.14309.
- Zhou X., Zhou J., Wei X., Yao R., Yang Y., Deng L. et al. Value of exome sequencing in diagnosis and management of recurrent non-immune hydrops fetalis: a retrospective analysis. Front. Genet. 2021; 12: 616392. https:// dx.doi.org/10.3389/fgene.2021.616392.
- Люшнина Д.Г., Тетруашвили Н.К., Шубина Е., Зарецкая Н.В., Толмачева Е.Р., Свирепова К.А., Большакова А.С., Пак В.С., Бокерия Е.Л., Трофимов Д.Ю. Лизосомные болезни накопления как одна из причин неиммунной водянки плода. Акушерство и гинекология. 2023; 12: 78-86. [Lyushnina D.G., Tetruashvili N.K., Shubina E., Zaretskaya N.V., Tolmacheva E.R., Svirepova K.A., Bol'shakova A.S., Pak V.S., Bokeriya E.L., Trofimov D.Yu. Lysosomal storage diseases as a cause of non-immune hydrops fetalis. Obstetrics and Gynecology. 2023; (12): 78-86. (in Russian)]. https://dx.doi.org/10.18565/aig.2023.221.
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