NIPT: Routine versus Considered Options

Introduction

Congenital diseases, complexes, and syndromes affect 3 to 6% of newborns, with chromosomal abnormalities, teratogenic damage, monogenic disorders, and multigenic diseases being significant contributors to the genetic burden.[1] Specifically, chromosomal disorders account for 6%, teratogenic damage for 7%, monogenic disorders for 8%, and multigenic diseases for 25% of all cases. However, a definitive genetic diagnosis is possible in only about 10% of affected neonates.[2]

Chromosomal abnormalities present a major concern during pregnancy, affecting 1 in every 150 pregnancies.[3] These abnormalities are responsible for half of all early pregnancy losses and are strongly associated with maternal age, regardless of whether the pregnancy involves a singleton or twins.[3] [4] Traditionally, diagnosing these anomalies relied on invasive tests such as amniocentesis and chorionic villus sampling (CVS). While effective, these procedures carry risks of complications, including rare but significant cases of fetal loss.[5]

The field of prenatal diagnostics underwent a revolutionary shift with the discovery of cell-free DNA (cfDNA) in maternal blood in 1997. This breakthrough paved the way for noninvasive prenatal testing (NIPT), which has demonstrated exceptional sensitivity and specificity in detecting fetal aneuploidies. As a result, NIPT has gained rapid acceptance, particularly among high-risk patients. Its remarkable accuracy has significantly reduced the need for invasive diagnostic procedures and the associated risk of fetal loss.

NIPT's transformative impact has earned it the label of a “disruptive innovation” as it continues to reshape prenatal screening and diagnostic practices.[6] However, it is crucial to critically evaluate the claims, promises, and growing excitement surrounding this technology. Such scrutiny is necessary to understand its broader implications, especially given the significant financial investments and strong market demand driving its widespread adoption.[7] [8]

Publikationsverlauf

Artikel online veröffentlicht:
30. April 2025

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