Placental mosaicism for chromosome 7 detected by genome-wide noninvasive DMA screening for fetal aneuploidies from maternal blood


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Resumo

Objective. To analyze pregnancy outcomes at high risk of trisomy for chromosome 7, as evidenced by noninvasive prenatal DNA screening (NIPS). Subject and methods. The paper describes two clinical cases of female patients aged 35 and 39 years, who have been found to be at high risk of trisomy for chromosome 7, as evidenced by NIPS. The investigators performed the latter for aneuploidies, by applying a genome-wide approach; an examination of four placental fragments, by using the fluorescent in situ hybridization (FISH); standard peripheral blood karyotyping; and a FISH study of chromosome 7 in the blood of a baby. Results. In both cases, pregnancy occurred with the phenomena of threatened miscarriage, oligohydramnios. Full-term low-birth-weight babies were born alive. The application of molecular cytogenetic technique proved the placental mosaicism for trisomy of chromosome 7 in patient M. Conclusion. These observations illustrate that NIPS can detect not only fetal aneuploidies, but also the mosaic forms of placental aneuploidies that can be a marker for complicated pregnancy.

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Sobre autores

Ilya Barkov

National Medical Research Center of Obstetrics, Gynecology, and Perinatology named after Academician V.I. Kulakov

Email: i_barkov@oparina4.ru
MD, clinical geneticist at molecular genetics laboratory

Ekaterina Shubina

National Medical Research Center of Obstetrics, Gynecology, and Perinatology named after Academician V.I. Kulakov

Email: e_shubina@oparina4.ru
Junior researcher of molecular genetics laboratory

Olga Stupko

National Medical Research Center of Obstetrics, Gynecology, and Perinatology named after Academician V.I. Kulakov

Email: o_stupko@oparina4.ru
clinical geneticist of molecular genetics laboratory

Lyudmila Kim

National Medical Research Center of Obstetrics, Gynecology, and Perinatology named after Academician V.I. Kulakov

Email: l_kim@oparina4.ru
clinician, Department of Pregnancy Loss Prevention and Therapy

Nana Tetruashvili

National Medical Research Center of Obstetrics, Gynecology, and Perinatology named after Academician V.I. Kulakov

Email: n_tetruashvili@oparina4.ru
Doctor of Medicine, Head of the Department of Pregnancy Loss Prevention and Therapy

Alexey Ekimov

National Medical Research Center of Obstetrics, Gynecology, and Perinatology named after Academician V.I. Kulakov

Email: a_ekimov@oparina4.ru
clinical geneticist of molecular genetics laboratory

Vyacheslav Lyapin

National Medical Research Center of Obstetrics, Gynecology, and Perinatology named after Academician V.I. Kulakov

Email: v_lyapin@oparina4.ru
pathologist of pathological anatomical department

Natalya Klimenchenko

National Medical Research Center of Obstetrics, Gynecology, and Perinatology named after Academician V.I. Kulakov

Email: n_klimenchenko@oparina4.ru
senior researcher of Department of Pregnancy Loss Prevention and Therapy

Tatyana Sokur

National Medical Research Center of Obstetrics, Gynecology, and Perinatology named after Academician V.I. Kulakov

Email: t_sokur@oparina4.ru
leading researcher of scientific and polyclinic department

Nataliia Karetnikova

National Medical Research Center of Obstetrics, Gynecology, and Perinatology named after Academician V.I. Kulakov

Email: n_karetnikova@oparina4.ru
Principal Researcher at the reproductive genetics laboratory

Andrey Bystritsky

National Medical Research Center of Obstetrics, Gynecology, and Perinatology named after Academician V.I. Kulakov

Email: a_bystritskiy@oparina4.ru
leading researcher of molecular genetics laboratory

Svetlana Mullabaeva

National Medical Research Center of Obstetrics, Gynecology, and Perinatology named after Academician V.I. Kulakov

Email: s_mullabaeva@oparina4.ru
head of a laboratory for the collection and storage of biomaterial

Dmitry Trofimov

National Medical Research Center of Obstetrics, Gynecology, and Perinatology named after Academician V.I. Kulakov

Email: d_trofimov@oparina4.ru
Head of Clinical and molecular genetics department

Gennady Sukhikh

National Medical Research Center of Obstetrics, Gynecology, and Perinatology named after Academician V.I. Kulakov

Email: g_sukhikh@oparina4.ru
MD, PhD, Professor, Academician of Russian Academy of Sciences, Director

Bibliografia

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  9. Wapner R.J., Simpson J.L., Golbus M.S., Zachary J.M., Ledbetter D.H., Desnick R.J. et al. Chorionic mosaicism: Association with fetal loss but not with adverse perinatal outcome. Prenat. Diagn. 1992; 12(5): 347-55.
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