Prenatal diagnosis of microdeletional and microduplication syndromes in the Moscow region over 9 years

Zayaeva E.E.

Russian Medical Academy of Continuing Professional Education;
Moscow Regional Research Institute of Obstetrics and Gynecology

Andreeva E.N.

Endocrinology Research Centre;
Moscow State University of Medicine and Dentistry

ORCID: 0000-0003-4979-7420

Demikova N.S.

Russian Medical Academy of Continuing Professional Education;
Y.E. Veltishchev Clinical Research Institute of Pediatrics in N.I. Pirogov Russian National Medical Research University

Prenatal diagnosis of microdeletional and microduplication syndromes in the Moscow region over 9 years

Authors:

Zayaeva E.E., Andreeva E.N., Demikova N.S.

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Journal: Russian Bulletin of Obstetrician-Gynecologist. 2022;22(4): 87‑95

DOI: 10.17116/rosakush20222204187

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To cite this article:

Zayaeva EE, Andreeva EN, Demikova NS. Prenatal diagnosis of microdeletional and microduplication syndromes in the Moscow region over 9 years. Russian Bulletin of Obstetrician-Gynecologist. 2022;22(4):87‑95. (In Russ.)
https://doi.org/10.17116/rosakush20222204187

Подписка 2025-2 (Russian Bulletin of Obstetrician-Gynecologist)

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THE PURPOSE OF THE STUDY

To study the epidemiological and clinical characteristics of microdeletional and microduplication syndromes in the Moscow Region to optimize the list of diagnostic methods used in the prenatal period.

MATERIAL AND METHODS

The study describes 36 clinical observations of microdeletional and microduplication syndromes among fetuses registered in the regional register of congenital malformations of the Moscow Region from 2011 to 2019 years.

RESULTS

Chromosomal micro-matrix analysis makes it possible to detect sub-microscopic chromosomal rearrangements that are not visible by standard karyotyping. This test has been used in the Moscow region since 2011. In the analyzed period, the number of microdeletions detected (n=26; 72.2%) prevailed over the number of microduplications (n=10; 27.8%) in the Moscow region. The ultrasound examination of fetuses with these alterations showed cardiovascular malformations (50%), central nervous system malformations (12%) and limb malformations (12%). The proportion of multiple malformations was 30.6%. Analysis of the combined screening data in the first trimester showed no deviations of the medians from the reference values.

CONCLUSION

Chromosomal micro matrix analysis is a test that allows the cause of fetal changes be detected at the ultrasound examination and also accurately determine the prognosis of the fetus’s life and health. The test is currently commercial and not all families can afford it. It is therefore worth considering the possibility of allocating budgetary quotas for prenatal chromosomal microarray analysis if indicated, given the great clinical relevance of this examination.

Keywords:

prenatal diagnosis

congenital malformations

chromosomal micro matrix analysis

chromosomal abnormalities

Authors:

Zayaeva E.E.

Russian Medical Academy of Continuing Professional Education;
Moscow Regional Research Institute of Obstetrics and Gynecology

Andreeva E.N.

Endocrinology Research Centre;
Moscow State University of Medicine and Dentistry

ORCID: 0000-0003-4979-7420

Demikova N.S.

Russian Medical Academy of Continuing Professional Education;
Y.E. Veltishchev Clinical Research Institute of Pediatrics in N.I. Pirogov Russian National Medical Research University

Received:

02.04.2022

Accepted:

28.04.2022

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