Averyanov A. Diagnostic algorithms for prenatal verification of congenital heart defects

Українська версія

Thesis for the degree of Candidate of Sciences (CSc)

State registration number

0412U004896

Applicant for

Specialization

  • 03.00.15 - Генетика

09-11-2012

Specialized Academic Board

Д 26.562.02

State Institution "National Research Centre For Radiation Medicine of National Academy of Medical Sciences of Ukraine"

Essay

The results of prenatal diagnosis of congenital heart defects in course of ultrasound genetic screening were analyzed for the first time. Comparing of prenatal and postnatal diagnosis, taking into consideration pathomorphological data showed that frequency of prenatally detected "major" heart defects comprises 8,3:1000. In 91,3% heart defects were found in families without burdened anamnesis. This proves expediency of forming risk groups on the basis of mass screening examinations. High diagnostic and prognostic value of early screening were achieved due to detailed protocol of ultrasound examination, proposed modifications of dopplerography and echocardiography - changes of sample volume of pulsed wave Doppler in accordance with gestation term and mode of dynamic flow for evaluation of heart view. The level of occurrence of "major" heart defects in the I trimester of pregnancy was 33,7 %, in II trimester - 64,3 %, from which 59% cases were verified in group of genetic risks, formed up to 14 weeks of pregnancy. The spectrum of heart defects, which may be diagnosed prenatally depending on gestational term, was evaluated. In the III trimester 2 % of general quantities of heart abnormalities were diagnosed, they were represented exclusively by defects with late manifestation. It was proposed an algorithm of verification of heart defects' diagnosis on the basis of succession of all prenatal examination's stages, forming of high genetic risk groups and monitoring of pregnancies during I, II, and III trimesters.

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