2020
DOI: 10.1038/s41436-019-0630-y
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Outcomes in pregnancies with a confined placental mosaicism and implications for prenatal screening using cell-free DNA

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Cited by 85 publications
(70 citation statements)
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“…Hence, some of the positive cases turned out to be false positive. Although our [25][26][27], several reasons contribute to having false-positive results, including maternal chromosomal abnormality [28,29], confined placental mosaicism [30,31], vanishing twin [32], maternal copy number variations [33], fetal fraction [34], and so on. In addition, a short-term telephone followup to ascertain whether the newborns are normal or not is not entirely reliable and can also contribute to false-positive results.…”
Section: Discussionmentioning
confidence: 97%
“…Hence, some of the positive cases turned out to be false positive. Although our [25][26][27], several reasons contribute to having false-positive results, including maternal chromosomal abnormality [28,29], confined placental mosaicism [30,31], vanishing twin [32], maternal copy number variations [33], fetal fraction [34], and so on. In addition, a short-term telephone followup to ascertain whether the newborns are normal or not is not entirely reliable and can also contribute to false-positive results.…”
Section: Discussionmentioning
confidence: 97%
“…While there is consensus on the value of screening for common fetal aneuploidies, the utility of screening for atypical fetal anomalies is still hotly debated [39] and is still controversial in the clinical community [40]. Even if the adverse prognosis of these ACAs and the utility of a diagnosis is deemed relevant, they are typically considered too rare to be part of a screening policy.…”
Section: Discussionmentioning
confidence: 99%
“…An abnormal test result inevitably leads to anxiety and, in some cases, to termination, as well as the need for both fetal and maternal testing; however, even when the fetal karyotype is found to be normal after a positive RAT result, uncertainty persists as to whether there are true mosaicisms in crucial fetal tissues and organs. When an invasive procedure confirms a true fetal mosaicism after a positive RAT result, it is impossible to predict clinical outcome and, in case of confined placental mosaicism (CPM), except CPM for trisomy 16, there is evidence that the incidence of adverse pregnancy outcome in an unselected population is not different from that in pregnancies with normal karyotype at chorionic villus sampling (CVS) 4 . Therefore, TRIDENT-2 shows that, at present, the benefits of screening for all genetic imbalances do not seem to outweigh the potential harms and that clinical implementation, even in a research setting, may be questionable ethically.…”
mentioning
confidence: 99%