SOMATIC TISSUE CHROMOSOME 16 MOSAICISM AND ITS RELATIONSHIP TO FETAL GROWTH RETARDATION


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The review analyzes the data available in current literature on topical aspects of the development of fetal growth retardation syndrome (FGRS). Fetal FGRS continues to be one of the most important problems in public health and modern obstetrics. According to the modern concepts, the causes of FGR are at once associated with several factors, both fetal and maternal and placental ones. Fetal chromosomal abnormalities, including their mosaic forms, are one of the causes of FGRS. Trisomy 16 is the most common trisomy leading to spontaneous miscarriage. The mosaic forms of trisomy 16 during prolonged pregnancy are associated with FGR, fetal malformations, and other adverse consequences. However, various clinical outcomes, including those depending on the proportion of cells with an altered karyotype, have been reported. Scientific literature has published the results of USA studies that included a description of 5 clinical cases of the birth of babies with mosaic chromosome 16. Noninvasive prenatal screening (NIPS) tests are most commonly used to diagnose fetal chromosomal abnormalities, including their mosaic forms. The resolution of NIPS tests makes it possible to detect even mosaicism in deletions and duplications affecting only part of a chromosome. Clinically, NIPS is a safer technique. The widespread introduction of NIPS into routine clinical practice, which is taking place today, will contribute to the higher detection rate of placental chromosomal disorders, including those leading to FGR. This review is devoted to these issues. Conclusion: It is necessary to further investigate the genetic aspects of FGR, in particular, the effect of mosaic chromosomal abnormalities on its development, as well as to work out and improve prenatal diagnosis and counseling in pregnant women with this pathology.

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作者简介

Shagane GASYMOVA

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

Email: shagane2501@mail.ru
ultrasound diagnostics doctor, obstetrician-gynecologist, Department of Ultrasound and Functional Diagnostics Moscow, Russia

Andrey DONNIKOV

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

Email: donnikov@dna-technology.ru
PhD, Doctor of clinical laboratory diagnostics, Head of the Laboratory of Molecular Genetic Methods Moscow, Russia

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