Publications by authors named "G Heleen Schuring-Blom"
Article Synopsis
- - Noninvasive prenatal testing (NIPT) can sometimes suggest the presence of cancer when analyzing cell-free DNA from mothers; this study looks at cases where NIPT raised concerns about malignancy.
- - From April 2017 to April 2020, only 0.03% of NIPT results indicated a potential malignancy, but 33.3% of these cases were later confirmed as cancer, often involving multiple chromosomal abnormalities.
- - The findings reveal that while indications of cancer are rare in NIPT results, when they occur with multiple chromosomal issues, there's a much higher likelihood of an actual cancer diagnosis, leading to the recommendation for thorough oncological evaluation.
The Netherlands launched a nationwide implementation study on non-invasive prenatal testing (NIPT) as a first-tier test offered to all pregnant women. This started on April 1, 2017 as the TRIDENT-2 study, licensed by the Dutch Ministry of Health. In the first year, NIPT was performed in 73,239 pregnancies (42% of all pregnancies), 7,239 (4%) chose first-trimester combined testing, and 54% did not participate.
View Article and Find Full Text PDFNon-invasive prenatal testing (NIPT) of cell-free DNA in maternal plasma, which is a mixture of maternal DNA and a low percentage of fetal DNA, can detect fetal aneuploidies using massively parallel sequencing. Because of the low percentage of fetal DNA, methods with high sensitivity and precision are required. However, sequencing variation lowers sensitivity and hampers detection of trisomy samples.
View Article and Find Full Text PDFObjective: To evaluate the clinical impact of nationwide implementation of genome-wide non-invasive prenatal testing (NIPT) in pregnancies at increased risk for fetal trisomies 21, 18 and 13 (TRIDENT study).
Method: Women with elevated risk based on first trimester combined testing (FCT ≥ 1:200) or medical history, not advanced maternal age alone, were offered NIPT as contingent screening test, performed by Dutch University Medical laboratories. We analyzed uptake, test performance, redraw/failure rate, turn-around time and pregnancy outcome.
Noninvasive prenatal testing (NIPT) validation studies show high sensitivity and specificity for detection of trisomies 13, 18, and 21. False negative cases have rarely been reported. We describe a false negative case of trisomy 13 and another of trisomy 18 in which NIPT was commercially marketed directly to the clinician.
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