6533b854fe1ef96bd12af625
RESEARCH PRODUCT
Cell-Free Fetal DNA and Non-Invasive Prenatal Diagnosis of Chromosomopathies and Pediatric Monogenic Diseases: A Critical Appraisal and Medicolegal Remarks
Giuseppe GulloMarco ScaglioneGiovanni BuzzaccariniAntonio Simone LaganàGiuseppe BasileVito ChianteraGaspare CucinellaSimona Zaamisubject
medicolegal traitsCell-free DNANIPT; cell-free DNA; chromosomopathies; fetal DNA; medicolegal traits; prenatal diagnosisprenatal diagnosisMedicolegal traitFetal DNAchromosomopathiesPrenatal diagnosis.Medicine (miscellaneous)ChromosomopathieSettore MED/40 - Ginecologia E OstetriciaNIPTdescription
Cell-free fetal DNA (cffDNA) analysis is a non-invasive prenatal diagnostic test with a fundamental role for the screening of chromosomic or monogenic pathologies of the fetus. Its administration is performed by fetal DNA detection in the mother’s blood from the fourth week of gestation. Given the great interest regarding its validation as a diagnostic tool, the authors have set out to undertake a critical appraisal based on a wide-ranging narrative review of 45 total studies centered around such techniques. Both chromosomopathies and monogenic diseases were taken into account and systematically discussed and elucidated. Not surprisingly, cell-free fetal DNA analysis for screening purposes is already rather well-established. At the same time, considerable interest in its diagnostic value has emerged from this literature review, which recommends the elaboration of appropriate validation studies, as well as a broad discourse, involving all stakeholders, to address the legal and ethical complexities that such techniques entail.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 2022-12-20 | Journal of Personalized Medicine |