Somatic tissue chromosomal mosaicism in monozygotic triplets concurrent with early preeclampsia


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Abstract

Objective. To investigate the impact of somatic tissue chromosomal mosaicism on the development of pregnancy complications and fetal malformations. Materials and methods. Placental and fetal tissue samples were taken from a 35-year-old patient during 19-20 weeks of monochorionic triamniotic triplet pregnancy following in vitro fertilization and single-embryo transfer. The pregnancy was terminated at 19-20 weeks of gestation because of the development of severe cholestasis and preeclampsia. The investigators assessed fetal phenotypes and conducted fetal autopsy and molecular genetic examination with FISH probes for chromosomes X, Y, 18, 9, 6, and 1 in various types of embryonic tissues. Results. Gross examination of three male fetuses confirmed the monozygotic pattern of the triplets and detected multiple signs of dysembriogenesis in the absence of severe visceral malformations. There was a multiple tissue mosaicism in the samples of placental and fetal tissues: the thymus, brain, and liver (ectodermal and endodermal derivatives) and the almost complete absence of aneuploidies in the myocardium (mesodermal derivative). Conclusion. Fetal and placental tissue chromosomal mosaicism may be an unrecognized cause of early complications of pregnancy, such as preeclampsia, growth restriction, and fetal developmental anomalies.

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About the authors

Nadezhda V. Zaretskaya

Research Center of Obstetrics, Gynecology and Perinatology Ministry of Health of Russia

Email: znadezda@yandex.ru
MD, senior researcher, laboratory for reproductive genetics

Olga V. Muravenko

Research Center of Obstetrics, Gynecology and Perinatology Ministry of Health of Russia

Email: olgmur1@yandex.ru
MD, PhD, Leading Researcher at the Laboratory of Reproductive Genetics

Natalia V. Nizyaeva

Research Center of Obstetrics, Gynecology and Perinatology Ministry of Health of Russia

Email: niziaeva@gmail.com
M.D., Senior Researcher, Pathology Department

Olga K. Stupko

Research Center of Obstetrics, Gynecology and Perinatology Ministry of Health of Russia

Email: o_stupko@oparina4.ru
doctor-laboratory of genetics, Laboratory for Reproductive Genetics

Nataliya V. Andronova

Research Center of Obstetrics, Gynecology and Perinatology Ministry of Health of Russia

Email: andronowa@mail.ru
MD, Junior Researcher, Laboratory for Reproductive Genetics

Zulfiya S. Khodzhaeva

Research Center of Obstetrics, Gynecology and Perinatology Ministry of Health of Russia

Email: zkhodjaeva@mail.ru
PhD, MD, professor, main researcher of the 1st obstetric department of pathology of pregnancy

Irina V. Meshalkina

Research Center of Obstetrics, Gynecology and Perinatology Ministry of Health of Russia

Email: ncagp@bk.ru
MD, doctor of the obstetric observation department

Natalia E. Kan

Research Center of Obstetrics, Gynecology and Perinatology Ministry of Health of Russia

Email: kan-med@mail.ru
PhD, MD, the head of the obstetric observation department

Marina N. Nagovitsyna

Research Center of Obstetrics, Gynecology and Perinatology Ministry of Health of Russia

Email: moremore84@mail.ru
Junior Researcher, Pathology Department

Alexandr I. Shchyogolev

Research Center of Obstetrics, Gynecology and Perinatology Ministry of Health of Russia

Email: ashegolev@oparina4.ru
PhD, MD, professor, Head of department for pathological anatomy

Sergey M. Voevodin

Research Center of Obstetrics, Gynecology and Perinatology Ministry of Health of Russia

Email: tioutiounnik@mail.ru
PhD, MD, Head of the visual diagnostics department

Victor L. Tyutyunik

Research Center of Obstetrics, Gynecology and Perinatology Ministry of Health of Russia

Email: s_voevodin@oparina4.ru
PhD, MD, Head of the obstetric physiological department

Vladimir A. Bakharev

Research Center of Obstetrics, Gynecology and Perinatology Ministry of Health of Russia

PhD, MD, professor, Chief Researcher, Laboratory of Reproductive Genetics

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