• Prenatal diagnosis of congenital birth defects

Prenatal diagnosis of congenital birth defects (CBD) is continually moving towards earlier stages of pregnancy.

 

In the 1st trimester of pregnancy, that is in the 12th week of pregnancy (optimally 12+0 – 13+6), the first ultrasound to detect rough morphology abnormalities of the foetus is conducted. The complex ultrasound screening in this week also includes an examination of ultrasound markers for the detection of foetuses with an increased incidence of chromosomal aberrations, i.e. measurement of nuchal translucency (NT), the presence of the nasal bone (NB), or flow measurement in the ductus venosus. These examinations detect serious congenital birth defects in foetuses and foetuses with an increased risk of chromosomal aberrations.

This world-wide trend of early detection of foetal defects enables the earlier termination of pregnancy on confirmation of a serious anomaly in the foetus, which considerably decreases the risk of health complications for the patient in connection with the termination of the pregnancy compared to the same solution in later stages of pregnancy.

 

In the 2nd trimester of pregnancy (optimally the 20th – 22nd week of pregnancy), a detailed morphological examination of the foetus is conducted, which is designed to rule out congenital birth defects. Along with the above, the presence of so called „markers“ is also detected, which do not have the nature of a congenital defect, that is, they do not jeopardise the healthy development of the foetus in themselves, however they occur more frequently in foetuses with chromosomal aberrations. In such case, the initial risk of chromosomal aberrations changes. The new risk may be calculated using the AAURA method (genetic ultrasound).

The detection of several such markers in an otherwise morphologically healthy foetus may be an indication for amniotic fluid examination for the purpose of karyotype determination. The above detailed morphological ultrasound may be indicated due to the age of woman of over 36, a borderline result of screening for Down’s syndrome, as well as a positive result of screening for a woman who has not yet decided on diagnosis by means of amniotic fluid examination.

 

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