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


Дәйексөз келтіру

Толық мәтін

Ашық рұқсат Ашық рұқсат
Рұқсат жабық Рұқсат берілді
Рұқсат жабық Рұқсат ақылы немесе тек жазылушылар үшін

Аннотация

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.

Толық мәтін

Рұқсат жабық

Авторлар туралы

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

Әдебиет тізімі

  1. Brady P., Brison N., Van Den Bogaert K., de Ravel T., Peeters H., Van Esch H. et al. Clinical implementation of NIPT - technical and biological challenges. Clin. Genet. 2016; 89(5): 523-30.
  2. Liang D., Lv W., Wang H., Xu L., Liu J., Li H. et al. Non-invasive prenatal testing of fetal whole chromosome aneuploidy by massively parallel sequencing. Prenat. Diagn. 2013; 33(5): 409-15.
  3. Ma J., Cram D.S., Zhang J., Shang L., Yang H., Pan H. Birth of a child with trisomy 9 mosaicism syndrome associated with paternal isodisomy 9: case of a positive noninvasive prenatal test result unconfirmed by invasive prenatal diagnosis. Mol. Cytogenet. 2015; 8: 44.
  4. Ekimov A.N., Ekimova E.V., Abubakirov A.N., Trofimov D.Yu. Results of the incorporation of the preimplantation genetic screening using Agilent platform into the clinical practice. 13-th Ann. Meet. Preimplantation Genet. Diagnosis Intern. Soc. (PGDIS). Canterbury, UK. Chromosome Research, December 2014, Vol. 22, Issue 4, Abstract book. pp. 573-643, P15.
  5. Yang J., Qi Y., Guo F., Hou Y., Peng H., Wang D. et al. A case of placental trisomy 18 mosaicism causing a false negative NIPT result. Mol. Cytogenet. 2017; 10: 40.
  6. Alberry M., Maddocks D., Jones M., Abdel Hadi M., Abdel-Fattah S., Avent N. et al. Free fetal DNA in maternal plasma in anembryonic pregnancies: confirmation that the origin is the trophoblast. Prenat. Diagn. 2007; 27(5): 415-8.
  7. Grati F. Chromosomal mosaicism in human feto-placental development: implications for prenatal diagnosis. J. Clin. Med. 2014; 3(3): 809-37.
  8. Fryburg J.S., Dimaio M.S., Yang-Feng T.L., Mahoney M.J. Follow-up of pregnancies complicated by placental mosaicism diagnosed by chorionic villus sampling. Prenat. Diagn. 1993; 13(6): 481-94.
  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.
  10. Robinson W.P., Barrett I.J., Bernard L., Telenius A., Bernasconi F., Wilson R.D. et al. Meiotic origin of trisomy in confined placental mosaicism is correlated with presence of fetal uniparental disomy, high levels of trisomy in trophoblast, and increased risk of fetal intrauterine growth restriction. Am. J. Hum. Genet. 1997; 60(4): 917-27.

Қосымша файлдар

Қосымша файлдар
Әрекет
1. JATS XML
Жүктеу

© Bionika Media, 2018

Осы сайт cookie-файлдарды пайдаланады

Біздің сайтты пайдалануды жалғастыра отырып, сіз сайттың дұрыс жұмыс істеуін қамтамасыз ететін cookie файлдарын өңдеуге келісім бересіз.< / br>< / br>cookie файлдары туралы< / a>