Publications by authors named "R J Galjaard"
The High Diagnostic Yield of Prenatal Exome Sequencing Followed by 3400 Gene Panel Analysis in 629 Ongoing Pregnancies With Ultrasound Anomalies.
Prenat Diagn
November 2024
Background: The aim of this study was to evaluate the diagnostic yield of routine exome sequencing (ES) in fetuses with ultrasound anomalies.
Methods: We performed a retrospective analysis of the ES results of 629 fetuses with isolated or multiple anomalies referred in 2019-2022. Variants in a gene panel consisting of approximately 3400 genes associated with multiple congenital anomalies and/or intellectual disability were analyzed.
Article Synopsis
- A study in the Netherlands evaluated the effectiveness of first-trimester anomaly scans to detect fetal structural defects in pregnant women as part of a nationwide prenatal screening program from November 2021 to November 2022.
- The study found that 74.9% of eligible women opted for the scan, and among those, 1.0% were flagged for potential anomalies while 54.9% of those cases were confirmed with abnormal findings in follow-up scans.
- The results highlighted the types of anomalies identified, including 332 structural and 117 genetic anomalies, indicating the scan's usefulness for early decision-making regarding reproductive options.
Objectives: Non-invasive prenatal testing (NIPT) allows the detection of placental chromosome aberrations. To verify whether the fetus also has the chromosome aberration, diagnostic follow-up testing is required. The aim of this retrospective study was to assess the added value of analyzing amniotic fluid (AF) cell cultures in addition to uncultured AF cells for the detection of fetal mosaicism.
View Article and Find Full Text PDFIn the Netherlands, genome-wide non-invasive prenatal testing (NIPT) is offered to all pregnant women as part of the nationwide TRIDENT-2 study. Findings other than trisomy 21, 18, or 13, which are called "additional findings", are reported only on request of the pregnant woman. This study examined: (1) women's pre-test perceptions and reasons to opt for additional findings and (2) women's experiences with- and the psychological impact of being informed about an additional finding.
View Article and Find Full Text PDFBackground: Since 2007 all pregnant women in the Netherlands are offered the second-trimester anomaly scan (SAS) in a nationwide prenatal screening program. This study aims to assess the level of informed choice of women opting for the SAS and to evaluate the presence of routinization 16 years after its implementation. It further explores decisional conflict and women's decision making.
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