Repeated clinical case of fetal congenital malformation in a family with hereditary short-rib thoracic dysplasia type 3

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Abstract

The article shows the genetic causes of recurrent fetal malformations on the example of a clinical case of hereditary short-rib thoracic dysplasia type 3.

Congenital malformations of the fetus are most often sporadic; however, in rare cases, this pathology can recur in one married couple, and the formation of congenital anomalies during subsequent pregnancy can both have general syndromes and affect various systems and organs.

Short-rib thoracic dysplasia type 3 is a rare genetic disorder with autosomal recessive inheritance. Patients for whom the carriage of pathogenic alleles in genes associated with congenital skeletal anomalies has been confirmed require a detailed clinical examination. Such married couples want expert-level medical genetic counseling with performing additional genetic tests, if necessary. This may clarify the diagnosis, which will determine further tactics for preparing the couple for the next pregnancy on their own or using assisted reproductive technology programs and / or surrogate motherhood.

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About the authors

Margarita O. Shengelia

The research institute of obstetrics, gynecology and reproductology named after D.O.Ott

Author for correspondence.
Email: bakleicheva@gmail.com
ORCID iD: 0000-0002-0103-8583
Scopus Author ID: 57203248029
Russian Federation, Saint Petersburg

Olesya N. Bespalova

The Research Institute of Obstetrics, Gynecology, and Reproductology named after D.O. Ott

Email: shiggerra@mail.ru
ORCID iD: 0000-0002-6542-5953
SPIN-code: 4732-8089
ResearcherId: D-3880-2018

MD, Dr. Sci. (Med.)

Russian Federation, Saint Petersburg

Olga V. Pachuliia

The Research Institute of Obstetrics, Gynecology and Reproductology named after D.O. Ott

Email: for.olga.kosyakova@gmail.com
ORCID iD: 0000-0003-4116-0222
SPIN-code: 1204-3160
Scopus Author ID: 57299197900

MD, Cand. Sci. (Med.)

Russian Federation, Saint Petersburg

Nodari D. Shengeliia

Center for Family Planning and Reproduction

Email: nod802210@yandex.ru
ORCID iD: 0000-0003-0677-494X
SPIN-code: 7495-9480

MD

Russian Federation, St. Petersburg

Alexander V. Baldin

Center for Family Planning and Reproduction

Email: abaldin@yandex.ru

MD, Cand. Sci. (Med.)

Russian Federation, Saint Petersburg

Yulia A. Nasykhova

The Research Institute of Obstetrics, Gynecology and Reproductology named after D.O. Ott

Email: yulnasa@gmail.com
ORCID iD: 0000-0002-3543-4963
SPIN-code: 9661-9416

Cand. Sci. (Biol.)

Russian Federation, Saint Petersburg

Andrey S. Glotov

The Research Institute of Obstetrics, Gynecology and Reproductology named after D.O. Ott

Email: anglotov@mail.ru
ORCID iD: 0000-0002-7465-4504
SPIN-code: 1406-0090
Scopus Author ID: 7004340255
ResearcherId: E-8525-2015

Dr. Sci. (Biol.)

Russian Federation, Saint Petersburg

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Supplementary files

Supplementary Files
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1. Figure. The causes of congenital malformations of the fetal skeletal system [5]: 1 — notochord; 2 — occipital complex; 3 — spine; 4 — scapula; 5 — laying of the bones of the upper limb; 6 — palmar plate; 7 — ribs; 8 — hip bone; 9 — laying of the bones of the lower limb

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