Citogenetikai, molekuláris citogenetikai és ultrahangvizsgálatok a magzati kromoszóma-rendellenességek vizsgálatában
Tidrenczel Zsolt
Clinical Medicine
Dr. Reusz György
SE Szülészeti és Nőgyógyászati Klinika Baross utcai Részleg
2022-05-06 12:00:00
Reproductive medicine
Dr. Rigó János
Dr. Beke Artúr
Dr. Nagy Sándor
Dr. Demendi Csaba
Dr. Patócs Attila
Dr. Garami Miklós
Dr. Vizer Miklós
Introduction: Congenital heart disease (CHD) plays a major role in the prenatal detection of Down and DiGeorge syndrome. Rare chromosomal aberrations are difficult to be diagnosed and are not targeted by conventional non-invasive screenings. Our aim was to analyse the utility of ultrasound, cytogenetic and molecular cytogenetic methods in the prenatal diagnosis of common and rare chromosomal abnormalities.
Methods: Retrospective cohort study (1999-2018) in a tertiary prenatal centre to analyse the ultrasound and fetopathology results, the associated cardiovascular malformations, clinical and maternal characteristics in 462 fetuses with Down syndrome. In the second part of the study, we analysed data of 2504 invasive tests (2014-2019) in regard to microscopically visible atypical aberrations, chromosomal mosaicism and DiGeorge syndrome.
Results: Overall, the frequency of cardiovascular malformations in fetuses with Down syndrome was 27%, CHDs associated in 19.5%, non-structural heart anomalies in 7.5% of cases. Ultrasound identified 66% of CHDs. Although, comparing the two 10-year periods there were no changes in the prevalence and detection of CHDs, trend analysis showed a shift in the diagnostic spectrum and increase in the early diagnosis between the two study periods. During both study periods, mothers carrying fetuses with CHD were significantly younger than those without CHD (p=0.038, p=0.009, respectively). The prevalence of de novo, rare chromosomal aberrations was 13.5%, the rate of fetoplacental mosaicism was 78% and was diagnosed in later gestational age (16.1±0.1w). 57% of all rare mosaic cases were confined to the placenta. The most common atypical aberrations were rare autosomal trisomies (7%). DiGeorge syndrome was diagnosed in 7% of invasive procedures done due to fetal conotruncal and aortic arch anomalies. The most specific indication for DiGeorge syndrome was Tetralogy of Fallot and ventricular septal defect with pulmonary atresia (28% and 25% positive rate).
Conclusions: Advanced maternal age is not a risk factor for CHD in Down syndrome. Mosaicism in atypical aberrations yields difficulties in screening and diagnosis. Detection of CHDs via ultrasound and application of molecular cytogenetic methods play a key role in the diagnosis of common and rare chromosomal abnormalities.
