Benefit vs potential harm of genome‐wide prenatal cfDNA testing requires further investigation and should not be dismissed based on current data

Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study

“…In addition, due to the lack of data demonstrating the clinical relevance of reporting additional findings in a general obstetric population, GW-NIPT is currently considered controversial. [9][10][11][12] In 2014, the Dutch NIPT Consortium, a national partnership of professionals and other stakeholders involved in public prenatal care, was granted a governmental license to introduce NIPT in the Dutch prenatal screening program. This implementation study was called the Trial by Dutch Laboratories for Evaluation of Non-invasive Prenatal Testing (TRIDENT).…”

Confined placental mosaicism of trisomy 6 detected through genome‐wide NIPT was associated with placental abruption

“…We showed a case of CPM of an RAT that was associated with placental abruption. It is hypothesized that, in some cases with CPM, the presence of a trisomy in the placenta would alter some functions leading to pregnancy complications 9 . A recent study showed that genomic alterations are often not uniformly distributed within placentas 10 .…”

“…It is hypothesized that, in some cases with CPM, the presence of a trisomy in the placenta would alter some functions leading to pregnancy complications. 9 A recent study showed that genomic alterations are often not uniformly distributed within placentas. 10 This may explain the variable pregnancy outcomes observed in CPM.…”

Test performance and clinical utility of expanded non‐invasive prenatal test: Experience on 71,883 unselected routine cases from one single center

“…In some cases, false‐positive results have been attributed to CPM or other biological confounders, such as aberrations of maternal origin, including fibroids and malignancies, or vanishing twins (caused by silent twin miscarriage). Dealing with one of these conditions while seeking chromosomal aberrations beyond common trisomies adds a further level of complexity and makes expanded NIPT more controversial 14 . The American College of Medical Genetics and Genomics (ACMG) 15 and the International Society for Prenatal Diagnosis (ISPD) 5 have argued against routine screening for autosomal aneuploidies other than commons and CNVs, despite their potential, due to the risk of discordant results, parental anxiety, and the possible increase in invasive diagnostic procedures.…”