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First trimester screening with biochemical markers and ultrasound in relation to non-invasive prenatal testing (NIPT)

J Perinat Med. 2021-07; 
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摘要

Non-invasive prenatal testing (NIPT) is often erroneously received as a diagnostic procedure due to its high discriminatory power in the field of fetal trisomy 21 diagnosis (wording: "NIPT replaces amniocentesis"). Already a look at the methodology of NIPT (statistical gene dose comparison of a primarily maternofetal DNA mixture information at selected sites of the genome) easily reveals that NIPT cannot match the gold standard offered by cytogenetic and molecular genetic analysis procedures from the matrix of the entire human genome (origin: vital fetal cells), neither in diagnostic breadth nor in diagnostic depth. In fact, NIPT in fetal medicine in its current stage of development is a selective genetic searc... More

关键词

NIPT, combined NT-test, prenatal genetic screening, test coverage, test performance
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