The discovery of presence of fetal non cell DNA in mother's blood and possibility of their measurement in 1997 (Lo ,USA) opened perspectives of safe prenatal screening of aneuploidies. Invasive diagnostics procedures like chorionic villus sampling and amniocentesis which have been widely implemented since 70's and 80's present risk of pregnancy loss in amount 1:100 or 1: 50. This approach of invasive and risky prenatal screening in time of demographic disaster in Europe is no longer unsustainable. NIPT on the contrary represents method which is completely safe and achieves the same accuracy regarding screening of trisomy 21 (Down syndrome). Results Our centre has performed about 100 NIPT's (MaterniT21, Harmony, Panorama Prenascan) since 2012. NIPT is offered only to those pregnant women who have low or intermediate risk of aneuploidies after first trimester screening. High percentage of pregnant after assisted reproduction procedures are among those tested by NIPT. The NIPT is a good choice for pregnant women after IVF who are already in advanced age in comparison to normal population. Invasive procedures like CVS or amniocentesis are recommended in case of high risk of aneuploidies ( calculation risk 1:10 resp. 1:50) or ultrasound abnormal findings. We have experience that running NIPT technology is very easy, and has been accepted our patients. Conclusions Our experience with NIPT is very positive. Main advantage of this new technology is safety and we are sure that NIPT is ideal for using in gynaecological practise. The first trimester ultrasound skills and NIPT technology allows gynaecologist to detect majority of aneupliodies and congenital anomalies of fetus.

První privátní chirurgické centrum SANUS Hradec Králové

Our experience with NIPT (non-invasive prenatal tests) and their perspectives in gynaecological practice

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