Placental mosaicism for chromosome 7 detected by genome-wide noninvasive DMA screening for fetal aneuploidies from maternal blood
Objective. To analyze pregnancy outcomes at high risk of trisomy for chromosome 7, as evidenced by noninvasive prenatal DNA screening (NIPS).Barkov I.Yu., Shubina E.S., Stupko O.K., Kim L.V., Tetruashvili N.K., Ekimov A.N., Lyapin V.M., Klimenchenko N.I., Sokur T.N., Karetnikova N.A., Bystritsky A.A., Mullabaeva S.M., Trofimov D.Yu., Sukhikh G.T.
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.
Keywords
noninvasive prenatal screening
noninvasive prenatal DNA test
DNA screening
screening
trisomy 7
aneuploidy
mosaicism
placenta
References
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Received 27.03.2018
Accepted 20.04.2018
About the Authors
Barkov Ilya Yu., MD, clinical geneticist at molecular genetics laboratory, National Medical Research Center of Obstetrics, Gynecology, and Perinatology named after Academician V.I. Kulakov, Ministry of Health of Russia. 117997, Russia, Moscow, Ac. Oparina str. 4. Tel.: +74955314444. Е-mail: i_barkov@oparina4.ruShubina Ekaterina, Junior researcher of molecular genetics laboratory, National Medical Research Center of Obstetrics, Gynecology, and Perinatology named after Academician V.I. Kulakov, Ministry of Health of Russia. 117997, Russia, Moscow, Ac. Oparina str. 4. Tel.: +74955314444. Е-mail: e_shubina@oparina4.ru
Stupko Olga K. clinical geneticist of molecular genetics laboratory, National Medical Research Center of Obstetrics, Gynecology, and Perinatology named after Academician V.I. Kulakov, Ministry of Health of Russia. 117997, Russia, Moscow, Ac. Oparina str. 4. Tel.: +74955314444. Е-mail: o_stupko@oparina4.ru
Tetruashvili Nana K., Doctor of Medicine, Head of the Department of Pregnancy Loss Prevention and Therapy, National Medical Research Center of Obstetrics, Gynecology, and Perinatology named after Academician V.I. Kulakov, Ministry of Health of Russia.
117997, Russia, Moscow, Ac. Oparina str. 4. Tel.: +74955314444. Е-mail: n_tetruashvili@oparina4.ru
Kim Lyudmila V., clinician, Department of Pregnancy Loss Prevention and Therapy, National Medical Research Center of Obstetrics, Gynecology, and Perinatology named after Academician V.I. Kulakov, Ministry of Health of Russia. 117997, Russia, Moscow, Ac. Oparina str. 4. Tel.: +74955314444. Е-mail: l_kim@oparina4.ru
Ekimov Alexey N., clinical geneticist of molecular genetics laboratory, National Medical Research Center of Obstetrics, Gynecology, and Perinatology named
after Academician V.I. Kulakov, Ministry of Health of Russia. 117997, Russia, Moscow, Ac. Oparina str. 4. Tel.: +74955314444. Е-mail: a_ekimov@oparina4.ru
Lyapin Vyacheslav M., pathologist of pathological anatomical department, National Medical Research Center of Obstetrics, Gynecology, and Perinatology named after Academician V.I. Kulakov, Ministry of Health of Russia. 117997, Russia, Moscow, Ac. Oparina str. 4. Tel.: +74955314444. Е-mail: v_lyapin@oparina4.ru
Klimenchenko Natalya I., senior researcher of Department of Pregnancy Loss Prevention and Therapy, National Medical Research Center of Obstetrics, Gynecology,
and Perinatology named after Academician V.I. Kulakov, Ministry of Health of Russia.
117997, Russia, Moscow, Ac. Oparina str. 4. Tel.: +74955314444. Е-mail: n_klimenchenko@oparina4.ru
Sokur Tatyana N., leading researcher of scientific and polyclinic department, National Medical Research Center of Obstetrics, Gynecology, and Perinatology named
after Academician V.I. Kulakov, Ministry of Health of Russia. 117997, Russia, Moscow, Ac. Oparina str. 4. Tel.: +74955314444. Е-mail: t_sokur@oparina4.ru
Karetnikova Nataliia A., Principal Researcher at the reproductive genetics laboratory, National Medical Research Center of Obstetrics, Gynecology, and Perinatology named after Academician V.I. Kulakov, Ministry of Health of Russia. 117997, Russia, Moscow, Ac. Oparina str. 4. Tel.: +74955314444. Е-mail: n_karetnikova@oparina4.ru
Bystritskiy Andrey A., leading researcher of molecular genetics laboratory, National Medical Research Center of Obstetrics, Gynecology, and Perinatology named
after Academician V.I. Kulakov, Ministry of Health of Russia. 117997, Russia, Moscow, Ac. Oparina str. 4. Tel.: +74955314444. Е-mail: a_bystritskiy@oparina4.ru
Mullabaeva Svetlana M., head of a laboratory for the collection and storage of biomaterial, National Medical Research Center of Obstetrics, Gynecology, and Perinatology named after Academician V.I. Kulakov, Ministry of Health of Russia. 117997, Russia, Moscow, Ac. Oparina str. 4. Tel.: +74955314444. Е-mail: s_mullabaeva@oparina4.ru
Trofimov Dmitry Yu., Head of Clinical and molecular genetics department, National Medical Research Center of Obstetrics, Gynecology, and Perinatology named
after Academician V.I. Kulakov, Ministry of Health of Russia. 117997, Russia, Moscow, Ac. Oparina str. 4. Tel.: +74955314444. Е-mail: d_trofimov@oparina4.ru
Sukhikh Gennady T., MD, PhD, Professor, Academician of Russian Academy of Sciences, Director of National Medical Research Center of Obstetrics, Gynecology,
and Perinatology named after Academician V.I. Kulakov, Ministry of Health of Russia.
117997, Russia, Moscow, Ac. Oparina str. 4. Tel.: +74955314444. Е-mail: g_sukhikh@oparina4.ru
For citations: Barkov I.Yu., Shubina E.S., Stupko O.K., Kim L.V., Tetruashvili N.K., Ekimov A.N., Lyapin V.M., Klimenchenko N.I., Sokur T.N., Karetnikova N.A., Bystritsky A.A., Mullabaeva S.M., Trofimov D.Yu., Sukhikh G.T. Placental mosaicism for chromosome 7 detected by genome-wide noninvasive DMA screening for fetal aneuploidies from maternal blood. Akusherstvo i Ginekologiya/Obstetrics and Gynecology. 2018; (10): 59-63. (in Russian)
https://dx.doi.org/10.18565/aig.2018.10.59-63
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