Ann Med Med Res | Volume 5, Issue 1 | Research Article | Open Access
Schmidt P1*, Hörmansdörfer C2 and Scharf A3
1Medical University School of Hannover, Hannover, Germany
2Institute for Prenatal Health GmbH, Wolfenbüttel, Germany
3Univerity of Heidelberg, Heidelberg, Germany
*Correspondance to: Peter SchmidtFulltext PDF
Objective: Prenatal care entails a range of test methods for aneuploidy screening such as
Amniocentesis (AC), Chorionic Villus Sampling (CVS), First Trimester Screening (FTS), and
Non-Invasive Prenatal Tests (NIPT). It was the aim of this study to retrieve the detection rates of
chromosomal abnormalities under real conditions in a medical practice.
Method: Pregnancies with fetal aneuploidy after 11+0 weeks of gestation were retrospectively
analyzed. The findings were compared to theoretical detection rates assuming that all screenings
were performed by NIPT.
Results: Forty-one cases remained for analysis, from which 18 were primarily detected by routine
ultrasound prior to any other screening test.
Assuming that NIPT test strategy with or without preceding ultrasound examination would have
been applied in all pregnancies, 62.5% respectively 71.5% of all chromosomal abnormalities would
have been detected.
In five cases, AC and CVS were performed simultaneously. Four out of these five pregnancies were
affected by mosaicism which developed placental insufficiency.
Conclusion: NIPT is not suitable to detect a wide number of chromosomal abnormalities, while
about 60% of all aneuploidies are detectable solely by ultrasound examination. Placental mosaicisms
offer a higher rate of NIPT without valid result, which have to be considered as test positive. This
would strongly increase the false-positive-rate.
Fetal aneuploidy; NIPT; First trimester screening; Mosaicism; Pregnancy; Chorionic
Schmidt P, Hörmansdörfer C, Scharf A. Prenatal Detection Rates of Chromosomal Aberrations by Amniocentesis, Chorionic Villus Sampling, First Trimester Screening, Non-Invasive-Prenatal Test and Triple- Test Under Everyday Conditions. Ann Med Medical Res. 2022; 5: 1054..