Noonan syndrome in a child with non-immune hydrops fetalis
Kurtser М.А., Sirotkina Yu.D., Breslav I.Yu., Volkov S.N.
Background: Non-immune hydrops fetalis (NIHF) is a pathological condition associated with high perinatal mortality, particularly in preterm neonates. It is manifested by extensive subcutaneous edema and accumulation of fluid in the body cavities of newborns. NIHF can have different causes. One of them is thought to be a group of abnormalities in the RAS-MAPK (RAS-mitogen activated protein kinase) signaling pathway genes, whose products are involved in information transfer from the cell membrane to the cell nucleus.
Case report: NIHF is characterized by a complex diagnostic process and multimodal treatment approaches during the postnatal period. A premature male infant was delivered by emergency caesarean section at 31 weeks due to rapidly developing NIHF. Noonan syndrome was eventually diagnosed. Clinically, the infant presented with severe generalized edema and multiple congenital malformations.
Conclusion: RAS-pathies have been reported to be a cause of various fetal structural abnormalities. This observation would be an addition to the existing data on prenatal phenotypes of Noonan syndrome caused by PTPN11 mutations. Whole-exome sequencing demonstrated its advantage in the diagnosis of prenatal disorders, while the result of conventional karyotyping or chromosomal microarray analysis did not reveal abnormalities.
Authors’ contributions: Kurtser M.A. – editing the text; Sirotkina Yu.D., Breslav I.Yu. – writing the text; Volkov S.N. – developing the concept and design of the study, collecting and processing the material.
Conflicts of interest: Authors declare lack of the possible conflicts of interest.
Funding: The study was conducted without sponsorship.
Ethical Approval: The material for the publication was approved by the Ethical Review Board of the Pirogov Russian National Research Medical University, Ministry of Health of Russia.
Patient Consent for Publication: The patient provided an informed consent for the publication of her data and associated images.
For citation: Kurtser М.А., Sirotkina Yu.D., Breslav I.Yu., Volkov S.N. Noonan syndrome in a child with non-immune hydrops fetalis.
Akusherstvo i Ginekologiya/Obstetrics and Gynecology. 2025; (2): 143-147 (in Russian)
https://dx.doi.org/10.18565/aig.2024.279
Keywords
non-immune hydrops fetalis
Noonan syndrome
PTPN11 mutation
RAS-pathies
whole-exome sequencing
References
- 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.
- Думова С.В., Саркисян Е.А., Чугунова О.Л., Прохоров И.Д., Николаева М.И., Глоба М.Р., Нам Д.И., Журавлева И.В., Шумилов П.В. Неиммунная водянка плода: этиология, патогенез, особенности диагностики и лечения у плода и новорожденного. Детские инфекции. 2024; 23(1): 35-43. [Dumova S.V., Sarkisyan E.A., Chugunova O.L., Prokhorov I.D., Nikolaeva M.I., Globa M.R., Nam D.I., Zhuravleva I.V., Shumilov P.V. Non-immune hydrops fetalis: etiology, pathogenesis, diagnostics and treatment features in the fetus and newborn. Childhood infections. 2024; 23(1): 35-43. (in Russian)]. https://dx.doi.org/10.22627/2072-8107-2024-23-1-35-43.
- Hebron K.E., Hernandez E.R., Yohe M.E. The RASopathies: from pathogenetics to therapeutics. Dis. Model. Mech. 2022; 15(2): dmm049107. https://dx.doi.org/10.1242/dmm.049107.
- Delogu A.B., Limongelli G., Versacci P., Adorisio R., Kaski J.P., Blandino R. et al. The heart in RASopathies. Am. J. Med. Genet. C. Semin. Med. Genet. 2022; 190(4): 440-51. https://dx.doi.org/10.1002/ajmg.c.32014.
- Tartaglia M., Aoki Y., Gelb B.D. The molecular genetics of RASopathies: An update on novel disease genes and new disorders. Am. J. Med. Genet. C. Semin. Med. Genet. 2022; 190(4): 425-39. https://dx.doi.org/10.1002/ajmg.c.32012.
- Люшнина Д.Г., Шубина Е., Тетруашвили Н.К., Зарецкая Н.В., Большакова А.С., Пак В.С., Кузнецова М.В., Михайловская Г.В., Бокерия Е.Л., Трофимов Д.Ю. Диагностика синдрома Нунан у беременных с неиммунной водянкой плода: тактика, исходы, консультирование. Акушерство и гинекология. 2024; 10: 34-40. [Lyushnina D.G., Shubina Je., Tetruashvili N.K., Zaretskaya N.V., Bolshakova A.S., Pak V.S., Kuznetsova M.V., Mikhailovskaya G.V., Bokeriya E.L., Trofimov D.Yu. Diagnosis of Noonan syndrome in pregnant women with nonimmune hydrops fetalis: tactics, outcomes, counseling. Obstetrics and Gynecology. 2024; (10): 34-40 (in Russian)]. https://dx.doi.org/10.18565/aig.2024.196.
- 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 Je., Zaretskaya N.V., Tolmacheva E.R., Svirepova K.A., Bolshakova 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.
Received 02.11.2024
Accepted 04.02.2025
About the Authors
Mark A. Kurtser, Dr. Med. Sci., Professor, Academician of the Russian Academy of Sciences, Head of Savelyeva Department of Obstetrics and Gynecology of the Instituteof Maternity and Childhood, Pirogov Russian National Research Medical University, Ministry of Health of Russia, 117997, Russia, Moscow, Ostrovityanov str., 1,
+7(495)719-78 96, m.kurtser@mcclinics.ru, https://orcid.org/0000-0003-0175-1968
Yulia D. Sirotkina, resident obstetrician-gynecologist, MGIMO-MED Medical University, 143081, Russia, Moscow region, Odintsovsky urban district, Lapino village, 111, +7(927)712-25-73, sirotkina2000@list.ru, https://orcid.org/0009-0001-8841-9636
Irina Yu. Breslav, Dr. Med. Sci., Professor at Savelyeva Department of Obstetrics and Gynecology of the Institute of Maternity and Childhood, Pirogov Russian National Research Medical University, Ministry of Health of Russia, 117997, Russia, Moscow, Ostrovityanov str., 1, +7(903)205-62-84, irina_breslav@mail.ru,
https://orcid.org/0000-0002-0245-4968
Sergey N. Volkov, Deputy Medical Director of the “Mother and Child” Group for neonatal resuscitation; anesthesiologist-resuscitator at the Neonatal Resuscitation Department, MD GROUP Clinical Hospital, 117209, Russia, Moscow, Sevastopolsky Ave., 24/1, +7(967)141-02-41, volkov-s.n@mail.ru, https://orcid.org/0009-0000-3847-8366
Corresponding author: Irina Yu. Breslav, irina_breslav@mail.ru
Similar Articles
