Lysosomal storage diseases as a cause of non-immune hydrops fetalis

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Abstract

Objective: To determine the etiology of non-immune hydrops fetalis (NIHF) in order to improve prenatal care and provide timely counseling to parents regarding the prognosis and risk of recurrent births of children with NIHF.

Materials and methods: Two clinical observations related to rare lysosomal storage diseases (LSDs), a leading cause of prenatally diagnosed NIHF, were presented. Pregnant women with NIHF were examined using the algorithm developed at V.I. Kulakov NMRC for OG&P. DNA samples from fetuses and parents were analyzed using chromosomal microarray analysis and special examination methods, including whole-exome sequencing and Sanger sequencing for pathogenicity analysis. A joint analysis of data from whole exome sequencing of the fetus and parents (trio-whole exome sequencing) was also performed.

Results: Mucopolysaccharidosis type VII and galactosialidosis, both belonging to the LSD group, were prenatally identified. Whole exome sequencing data revealed that in two clinical cases, two probable pathogenic variants were detected in the GUSB and CTSA genes, respectively, in a compound heterozygous state. The progression of pregnancies was analyzed, and the mode of inheritance of these diseases was determined. It was found that both parents in each observation were carriers of probable pathogenic variants in the GUSB and CTSA genes associated with autosomal recessive diseases. Genetic counseling was provided to the parents, informing them about the high risk of recurrence of this pathology in subsequent pregnancies (25% adverse outcomes) and the possibility of preimplantation or prenatal diagnosis.

Conclusion: The proposed examination enables optimization of pregnancy management strategies, prediction of the risk of identified pathology in subsequent pregnancies, and expands the possibilities of genetic counseling.

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About the authors

Daria G. Lyushnina

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

Author for correspondence.
Email: d_lyushnina@oparina4.ru
ORCID iD: 0009-0004-3160-8737

PhD student, Academician V.I. Kulakov National Medical Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia

Russian Federation, Moscow

Nana K. 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

Dr. Med. Sci., Head of the Obstetric Department of Pregnancy Pathology No. 2, Academician V.I. Kulakov National Medical Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia

Russian Federation, Moscow

Jekaterina 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 (Bio), Head of the Laboratory of Genomic Data Analysis, Academician V.I. Kulakov National Medical Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia

Russian Federation, Moscow

Nadezhda V. 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, Academician V.I. Kulakov National Medical Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia

Russian Federation, Moscow

Ekaterina R. Tolmacheva

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

Email: tetisae@gmail.ru
ORCID iD: 0000-0003-2901-0539

Researcher at the Laboratory of Genomic Data Analysis, Academician V.I. Kulakov National Medical Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia

Russian Federation, Moscow

Ksenia A. Svirepova

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

Email: k_svirepova@oparina4.ru
ORCID iD: 0000-0001-8538-2375

Clinical Pathologist at the Laboratory of Molecular and Genetic Methods of the Institute of Reproductive Genetics, Academician V.I. Kulakov National Medical Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia

Russian Federation, Moscow

Anna 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
ORCID iD: 0000-0002-7508-0899

Geneticist, Department of Clinical Genetics, Academician V.I. Kulakov National Medical Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia

Russian Federation, Moscow

Viktoriia S. 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, Academician V.I. Kulakov National Medical Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia

Russian Federation, Moscow

Ekaterina L. 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 of Newborn and Prematurely-born children No. 2, Academician V.I. Kulakov National Medical Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia

Russian Federation, Moscow

Dmitry Y. 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

Corresponding Member of the RAS, Professor, Dr. Med. Sci., Director of the Institute of Reproductive Genetics, Academician V.I. Kulakov National Medical Research Center of Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia

Russian Federation, Moscow

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