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First trimester screening with biochemical markers and ultrasound in relation to non-invasive prenatal testing (NIPT)
Journal of Perinatal Medicine
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 proceduresdoi:10.1515/jpm-2021-0243 pmid:34225389 fatcat:vplzr5dvmzgldnlncbbiixv3si