ABSTRACT

Objective: Impact of Doppler system in detection of congenital malformations during prenatal diagnosis.

Design: Prospective clinical study.

Setting: Department of Medical Genetics and Fetal Medicine, Department of Obstetrics and Gynecology FN UP Olomouc.

Methods: In 34 pregnancies with prenataly diagnosed congenital malformation the umbilical artery pulsatility index (PI) and middle cerebral artery PI were assessed (measured).

Results: Abnormal Doppler patterns were obtained in 18 patients (chromosomal abnormalities - 3x, gastroschisis – 2x, diaphragmatic hernia – 2x, urinary tract abnormalities – 2x, internal hydrocephalus – 4x, microcephaly, anencephaly, encephalocele, non-immune hydrops of the fetus, thoracopagus – 1x).

Conclusion: In accordance to literature abnormal Doppler patterns in umbilical artery were obtained in trisomy 21 fetuses. The use of umbilical artery PI or ductus venosus PI in the first trimester of pregnancy as an additional parameter for screening purposes needs to be confirmed by further investigation (needs to be further explored).
Pulsed Doppler waveform analysis gives a possibility to appreciate functional state of the fetus. In our patient file abnormal Doppler patterns were found in such substantial congenital malformations that they indicated pregnancy termination themselves. On the other hand in several similar morphological defects normal Doppler patterns were found. In these cases, in regard to the type of malformation, the Doppler appreciation of fetal functional state was not prognostically important (significant).

Key words: Doppler ultrasonography, prenatal diagnosis, congenital malformation.