Diagnosis of Noonan syndrome in pregnant women with nonimmune hydrops fetalis: tactics, outcomes, counseling

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Relevance: Conducting extended genetic testing based on whole exome sequencing allows for the diagnosis of Noonan syndrome in pregnant women with nonimmune hydrops fetalis (NIHF). The data obtained may help to revise the management strategy for the current pregnancy and assist in determining the risk of recurrence of Noonan syndrome in this parental couple.

Materials and methods: Pregnant women with NIHF underwent invasive prenatal diagnostics, followed by genetic testing using molecular karyotyping on DNA microarrays and whole exome sequencing.

Results: The study presents the clinical observations of three cases of NIHF associated with Noonan syndrome in the fetus. Married couples were examined and the inheritance pattern of variants associated with Noonan syndrome was determined. Genetic counseling was provided to the families, and a method for planning subsequent pregnancies was established.

Conclusion: Whole exome sequencing enables the diagnosis of Noonan syndrome in patients with NIHF, provides an estimation of fetal prognosis, and expands the scope of genetic counseling for the couple.

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作者简介

Daria Lyushnina

Academician V.I. Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, Ministry of Health of the Russian Federation

编辑信件的主要联系方式.
Email: d_lyushnina@oparina4.ru
ORCID iD: 0009-0004-3160-8737

PhD Student

俄罗斯联邦, Moscow

Ekaterina 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
ORCID iD: 0000-0003-4383-7428

PhD in Biology, Head of the Laboratory of Genomic Data Analysis

俄罗斯联邦, Moscow

Nana Tetruashvili

Academician V.I. Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, Ministry of Health of the Russian Federation

Email: n_tetruashvili@oparina4.ru
ORCID iD: 0000-0002-9201-2281

PhD, Head of the Obstetric Department of Pregnancy Pathology No. 2

俄罗斯联邦, Moscow

Nadezhda Zaretskaya

Academician V.I. Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, Ministry of Health of the Russian Federation

Email: znadezda@yandex.ru
ORCID iD: 0000-0001-6754-3833

PhD, Head of the Laboratory of Clinical Genetics of the Department of Clinical Genetics

俄罗斯联邦, Moscow

Anna 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
ORCID iD: 0000-0002-7508-0899

MD, Geneticist at the Department of Clinical Genetics

俄罗斯联邦, Moscow

Viktoria Pak

Academician V.I. Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, Ministry of Health of the Russian Federation

Email: v_pak@oparina4.ru
ORCID iD: 0009-0002-1444-9071

PhD Student

俄罗斯联邦, Moscow

Maria Kuznetsova

Academician V.I. Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, Ministry of Health of the Russian Federation

Email: mkarja@mail.ru
ORCID iD: 0000-0003-3790-0427

PhD in Biology, Senior Researcher at the Laboratory of Molecular and Genetic Methods of the Institute of Reproductive Genetics

俄罗斯联邦, Moscow

Galina Mikhailovskaya

Academician V.I. Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, Ministry of Health of the Russian Federation

Email: g_mikhailovskaia@oparina4.ru

Biologist at the Laboratory of Molecular and Genetic Methods of the Institute of Reproductive Genetics

俄罗斯联邦, Moscow

Ekaterina Bokeriya

Academician V.I. Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, Ministry of Health of the Russian Federation

Email: e_bokeriya@oparina4.ru
ORCID iD: 0000-0002-8898-9612

PhD, Researcher at the Department of Pathology for Newborn and Prematurely-Born Children No. 2

俄罗斯联邦, Moscow

Dmitry 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
ORCID iD: 0000-0002-1569-8486

PhD in Biology, Head of the Department of Clinical Genetics

俄罗斯联邦, Moscow

参考

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1. JATS XML
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2. Fig. 1. Subcutaneous oedema (clinical observation 1)

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3. Fig. 2. Orbital hypertelorism (clinical observation 1)

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4. Fig. 3. Bilateral hydrothorax (clinical observation 2)

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5. Fig. 4. Subcutaneous oedema - double contour of the head (clinical observation 2)

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