Nicht-invasive Pränataltests (NIPTs)
Ausgabe: 1/2020
66. Jahrgang
Nicht-invasive Pränataldiagnostik autosomaler Trisomien (21, 18 und 13) mittels Analyse der zellfreien DNA im mütterlichen Blut
Early in pregnancy the non-invasive prenatal test (NIPT) by the cell free DNA (cfDNA) in the maternal blood permits detection of the presence of fetal trisomy 21 with a high accuracy in singleton pregnancies (sensitivity 99,7 %, false positive rate 0,04 %). The NIPT also shows high test accuracy for trisomies 18 and 13 as well as sex chromosome aneuploidies. Advice on the alternative non-invasive procedures for risk calculation (NIPT, first trimester combined serum and ultrasound screening) and on the primary diagnostic puncture should be given before testing and provide general and individual information about the respective advantages and disadvantages. Models for integrating the NIPT into pregnancy care are discussed.
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