EVALUATION OF THE EFFICIENCY OF A PROGRAM FOR THE PRENATAL DIAGNOSIS OF CONGENITAL MALFORMATIONS AND CHROMOSOMAL DISEASES IN THE REPUBLIC OF BASHKORTOSTAN


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Abstract

Objective. To study the efficiency of a current package of methods for the prenatal diagnosis of congenital malformations (CM) and chromosomal abnormalities (CA). Subjects and methods. In the period 2006 to 2010, a total of 72,514 ultrasound studies (US) were conducted in 34,523 pregnant women in different gestation periods and biochemical screening was carried out in 26,275 women in the first-second trimesters of pregnancy. Invasive diagnosis was made in 3248 pregnant women in terms of found US and biochemical markers. Results. US revealed 2794 CMs in the fetuses. Invasive studies could diagnose CA in 181 fetuses. Biochemical screening was found to be of diagnostic value in anterior abdominal wall defects and fetal neural tube defects and to be of low informative value in Down syndrome (DS). The prenatal diagnosis of DS in the Republic of Bashkortostan in the above period was 30.6%. Conclusion. A comprehensive approach to examining pregnant women, involving US and biochemical screening in the first trimester, as well as invasive diagnosis permit the increase in the number of diagnosed CMs and CMs. Combined prenatal screening was ascertained to have signif icant sociomedical and high economic eff iciencies.

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About the authors

N. I KRYUKOVA

Medical Genetic Counseling, Republican Perinatal Center

Email: mgkufa@rambler.ru
Ufa

M. K AKHMADULLINA

Medical Genetic Counseling, Republican Perinatal Center

Ufa

L. V SANDAKOVA

Medical Genetic Counseling, Republican Perinatal Center

Ufa

S. A MIKHAILOVA

Medical Genetic Counseling, Republican Perinatal Center

Ufa

Z. K TALIPOVA

Medical Genetic Counseling, Republican Perinatal Center

Ufa

L. G BAIBURINA

Medical Genetic Counseling, Republican Perinatal Center

Ufa

F. M BAIRAMGULOV

Medical Genetic Counseling, Republican Perinatal Center

Ufa

A. L FROLOV

Medical Genetic Counseling, Republican Perinatal Center

Ufa

A. K MARDANOVA

Medical Genetic Counseling, Republican Perinatal Center

Ufa

R. V MAGZHANOV

Bashkir State Medical University

Ufa

S. Sh MURZABAYEVA

Bashkir State Medical University

Ufa

References

  1. Антонова И.А., Антонов О.В. Проблемы и перспективы развития пренатальной диагностики // Вопр. гин., акуш. и перинатол. - 2009. - Т. 8, № 1. - С. 76-82.
  2. Барашнев Ю.И., Бахарев В.А., Новиков П.В. Диагностика и лечение врожденных и наследственных заболеваний у детей (Путеводитель по клинической генетике). -М.: Триада-Х, 2004.
  3. Головатая Е.И., Прибушеня О.В., Лазюк Г.И. Биопсия ворсин хориона первого триместра: некоторые цитогенетические и акушерские аспекты // Мед. генетика. - 2006. - Т. 5, № 10. - С. 23-24.
  4. Золотухина Т.В. Пренатальная цитогенетика: вчера, сегодня, завтра // Мед. генетика. - 2007. - Т. 6, № 10. - С. 17-20.
  5. Медведев М.В. Пренатальная эхография. - М.: Реальное время, 2002. - C. 167-173; 185-190.
  6. Мурзабаева С.Ш. Оптимизация медико-генетической службы Республики Башкортостан: Автореф. дис.. д-ра мед. наук. - М., 2010.
  7. Николаидес К.Х. Ультразвуковое исследование в 11-13, 6 недель беременности: Пер. с англ. - СПб.: ИД «Петрополис», 2007. - С. 57-62.
  8. Романенко О.П., Клюева С.К. Врожденные пороки развития. - СПб: Издательский дом СПбМАПО, 2004.
  9. Юдина Е.В. Инвазивные методы исследования в акушерской практике: итоги второго Российского мультицентрового исследования // Пренатальная диагн. - 2002. - Т. 1, № 2. -С. 91-96.
  10. Canick J.A., Mac Rae A.R. Second trimester serum markers // Semin. Perinatal. - 2005. - Vol. 29, № 4. - P. 203-208.
  11. Cuckle H.S. Biochemical screening for Down syndrome // Eur. J. Obstet. Gynecol. Reprod. Biol. - 2000. - Vol. 92, № 1. - Р. 97-101.
  12. Snijders R., Nikolaides K. Ultrasound markers for fetal chromosomal defects. - New York; London: Parthenon Publ. Gr., 1996. - Р. 10-14.

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