First-Trimester Screening in Germany After the Introduction of NIPT as a General Health Insurance Benefit

Prenatal non-invasive screening has been offered to pregnant women in Europe since the beginning of this century as first trimester screening (FTS) based on risk calculation programs of Fetal Medicine Foundation (FMF-UK) and FMF-Germany and has spread rapidly worldwide (Nicolaides KH et al. Br J Obstet Gynaecol. 1994;101:782–6, Merz E et al. Ultraschall in Med. 2022;43:115–119). First trimester screening is based on the combination of maternal age, crown rump-length, specific prenatal ultrasound markers such as fetal nuchal translucency (+ optional nasal bone, abnormal ductus venosus flow and tricuspid regurgitation) and the biochemical markers free β-hCG and PAPP-A, and calculates the individual risk for the 3 most common trisomies 13, 18 and 21. Furthermore, the required detailed ultrasound examination allows the detection of structural fetal abnormalities, early growth restriction, twin abnormalities and anomalies of the placenta (Merz E, Pashaj S. Embryonic and early fetal abnormalities diagnosed with three-dimensional ultrasound in the 1st trimester. In: Kurjak A, Chervenak F. Embryo as a person and as a patient. Jaypee Brothers Medical Publishers, New Delhi-London-Panama, 2020; pp. 51–64.2020), leading to a significant improvement in prenatal care beyond trisomies, as aneuploidies account only for 14.26 % of all fetal mal-formations (EUROCAT. https://eu-rd-platform.jrc.ec.europa.eu/eurocat/eurocat-data/preva-lence_en).

Publication History

Received: 09 January 2023

Accepted: 06 February 2023

Accepted Manuscript online:
06 February 2023

Article published online:
05 April 2023