Range of the rare chromosomal abnormalities diagnosed prenatally at fetuses with increased nuchal translucency

Cover Page


Cite item

Full Text

Abstract

The data provided are given as an illustration of molecular-cytogenetic approach for improvement of prenatal cytogenetic diagnosis of rare chromosomal abnormalities. The main indication for prenatal karyotyping discussed herein presented with increased nuchal translucency at 10–14 weeks of gestation. The following rare chromosomal abnormalities were revealed by FIASH: microdeletion 22q11.2, r(13)(p11q22), dup(8)(p23p12), del (13)(q34), invdupY(q10), two sSNMCs of 5 and 20 chromosomes origin. The importance of improving and systematizing of the ultrasonographic diagnosis of “mild” developmental defects, providing of the expanded prenatal molecular studies and contemporary FISH-technique application is emphasized.

About the authors

Tatyana Vladimirovna Zolotukhina

Research Centre for Medical Genetics

Email: ztv@med-gen.ru
Head of lab. of prenatal diagnosis

Yelena Vladimirovna Yudina

Research Centre for Medical Genetics

Email: ztv@med-gen.ru
Physician of ultrasound diagnosis, Laboratory of Prenatal diagnosis

Nadezhda Vladimirovna Shilova

Research Centre for Medical Genetics

Email: ztv@med-gen.ru
Scientific researcher, Laboratory of Prenatal diagnosis

Marina Yevgenyevna Minzhenkova

Research Centre for Medical Genetics

Email: ztv@med-gen.ru
Scientific researcher, Laboratory of Prenatal diagnosis

Yuliya Olegovna Kozlova

Research Centre for Medical Genetics

Email: ztv@med-gen.ru
Scientific researcher, Laboratory of Prenatal diagnosis

Zhanna Gennadiyevna Markova

Research Centre for Medical Genetics

Email: ztv@med-gen.ru
Scientific researcher, Laboratory of Prenatal diagnosis

References

  1. Комплексное обследование плодов с расширенным воротниковым пространством: первый опыт пренатальной диагностики микроделеционных синдромов 22q11.2 в клинической практике / Козлова Ю. О. [и др.] // Пренатальная диагностика. — 2011. — Т. 10, № 1. — С. 47–55.
  2. Пренатальная диагностика микроделеции 22q11.2 / Козлова Ю. О. [и др.] // Пренатальная диагностика. — 2012. — Т. 11, № 4. — С. 311–315.
  3. Can we predict 22q11 status of fetus with tetralogy of Fallot? /Boudjemline Y. [et al.] // Prenat. Diagn. — 2002. — Vol. 22. — P. 231–234.
  4. Prenatal detection of rare chromosomal autosomal abnormalities in Europe / Baena N. [et al.] // Amer. J. Med. Genet. — 2003. — Vol. 118A. — P. 319–327.
  5. Prenatal detection of rare chromosomal autosomal abnormalities in Europe / Bretelle F. [et al.] // Eur. J. Med. Genet. — 2010. — Vol. 53. — P. 367–370.
  6. Rare chromosome abnormalities, prevalence and prenatal diagnosis rates from population-based congenital anomaly registers in Europe / Wellesley D. [et al.] // European Journal of Human Genetics — 2012. — Vol. 20, N 5. — P. 521–526.
  7. Simpson L., Malone F., Bianchi D. Nuchal translucency and the risk of congenital heart disease // Obstet. Gynecol. — 2007. — Vol. 109, N 2. — P. 376–383.
  8. Westin M., Saltvedt S., Bergman G. Increased nuchal translucency thickness a useful screening tool for heart defects? A study of 16,383 fetuses // Ultrasound Obstet. Gynecol. — 2006. — Vol. 27, N 6. — P. 1330–1335.

Copyright (c) 2013 Zolotukhina T.V., Yudina Y.V., Shilova N.V., Minzhenkova M.Y., Kozlova Y.O., Markova Z.G.

Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 International License.

This website uses cookies

You consent to our cookies if you continue to use our website.

About Cookies