Prenatal diagnosis of thanatophoric dysplasia

Lagutina O.V., Sumina M.V., Kudryavtseva E.V., Mostova N.V., Deryabina S.S.

1) Institute of Medical Cell Technologies, Yekaterinburg, Russia; 2) Medical Center “Mother and Child Health Protection”, Yekaterinburg, Russia; 3) Ural State Medical University, Ministry of Health of Russia, Yekaterinburg, Russia

Thanatophoric dysplasia is an autosomal dominant congenital disorder associated with primary bone dysplasia. Thanatophoric dysplasia is caused by mutation of the gene that encodes fibroblast growth factor 3 (FGFR3).
Case report: The paper presents two clinical observations of thanatophoric dysplasia. In both cases, pregnant women were referred for invasive prenatal diagnosis which identified the normal male karyotype of the fetus.
In the first case, a number of markers of chromosomal abnormalities were detected in the first trimester using ultrasound. There were no markers allowing to suspect skeletal dysplasia. The ultrasound examination performed at 19–20 weeks’ gestation revealed multiple congenital malformations including shortening and bowing of the limbs. The boy who was born at 36–37 weeks’ gestation after surgical delivery had the following congenital malformations: shortening of limb bones, hypoplasia of the chest, anomalies of the ribs and spine, secondary hypoplasia of the lungs. The child died in the neonatal period.
In the second case, there were the following abnormalities of the musculoskeletal system in the fetus at 14–15 weeks’ gestation: shortening and deformation of the tubular bones of the arms and legs, hypoplasia of the chest, clover-shaped skull. The patient provided the consent for termination of pregnancy.
Pathogenic variants in the FGFR3 gene were identified during a subsequent study of DNA which was isolated from chorionic villi. In the first case, the c.1948 A>G variant was identified, while the c.742 C>T was revealed in the second one; both variants were previously described as pathogenic.
Conclusion: It is necessary to confirm the diagnosis of thanatophoric dysplasia using molecular genetic research methods and ultrasound assessment showing the signs of fetal skeletal pathology in order to clarify the medical indications for termination of pregnancy and to determine the prognosis for future offspring in the family.

Authors’ contributions: Lagutina O.V. – developing the concept and design of the study, writing the text of the manuscript; Sumina M.G. – analysis of the medical records, writing the text of the manuscript; Kudryavtseva E.V. – search and analysis of scientific literature, summarizing the data, writing the text of the manuscript; Mostova N.V. – doing ultrasound examination and describing echograms, writing the text of the manuscript; Deryabina S.S. – writing and editing the text of the manuscript.
Conflicts of interest: The authors declare no conflict of interest.
Funding: The study was conducted without sponsorship.
Ethical Approval: The study was approved by the Ethical Review Board of the Yekaterinburg Clinical Perinatal Centre (Protocol No.2 – 26/05/2023).
Patient Consent for Publication: All patients signed an informed consent for the publication of their data and associated images.
For citation: Lagutina O.V., Sumina M.V., Kudryavtseva E.V., Mostova N.V., Deryabina S.S. Prenatal diagnosis of thanatophoric dysplasia. Akusherstvo i Ginekologiya/Obstetrics and Gynecology. 2023; (11): 193-199 (in Russian)


thanatophoric dysplasia
prenatal diagnosis
skeletal deformations


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Received 10.05.2023

Accepted 08.06.2023

About the Authors

Olga V. Lagutina, Biologist at the Molecular Diagnostic Laboratory, Medical Center «Health Care of Mother and Child», +7(343)287-57-13,
620067, Russia, Yekaterinburg, Flotskaya str., 52; Researcher at the Laboratory of Molecular Genetic Research, Institute of Medical Cell Technologies, +7(343)355-62-40,
620026, Russia, Yekaterinburg, Karla Marksa str., 22A,,
Maria G. Sumina, Head of the Department of Medical Genetic Counseling, Clinical and Diagnostic Center «Maternal and Child Health Care»,
+7(343)287-57-13,, 620067, Russia, Yekaterinburg, Flotskaya str., 52,
Elena V. Kudryavtseva, Dr. Med. Sci., Head of the Central Research Laboratory, Ural State Medical University, Ministry of Health of Russia, +7(343)214-85-56,, 620028, Russia, Yekaterinburg, Repina str., 3; Researcher at the Laboratory of Molecular Genetic Research, Institute of Medical Cell Technologies, +7(343)355-62-40, 620026, Russia, Yekaterinburg, Karla Marksa str., 22A,
Natal'ja V. Mostova, prenatal diagnostics doctor, Medical Center «Health Care of Mother and Child», +7(343)365-78-50,,
620067, Russia, Yekaterinburg, Flotskaya str., 52,
Svetlana S. Deryabina, PhD (Bio), Head of the Laboratory of Molecular Diagnostics, Medical Center «Health Care of Mother and Child», 620067, Russia, Yekaterinburg, Flotskaya str., 52, Institute of Medical Cell Technologies, 620026, Russia, Yekaterinburg, Karla Marksa str., 22A,,
Corresponding author: Elena V. Kudryavtseva,

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