Publications by authors named "A B Coumans"
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.
Several factors associated with poor outcome in patients with prenatally diagnosed sacrococcygeal teratoma (SCT) have been found. However, the prognostic accuracy of these factors has not been well established. Therefore, we aimed to systematically review the prognostic accuracy of factors associated with poor outcome in these patients.
View Article and Find Full Text PDFObjective: We performed a 1-year evaluation of a novel strategy of simultaneously analyzing single nucleotide variants (SNVs), copy number variants (CNVs) and copy-number-neutral Absence-of-Heterozygosity from Whole Exome Sequencing (WES) data for prenatal diagnosis of fetuses with ultrasound (US) anomalies and a non-causative QF-PCR result.
Methods: After invasive diagnostics, whole exome parent-offspring trio-sequencing with exome-wide CNV analysis was performed in pregnancies with fetal US anomalies and a non-causative QF-PCR result (WES-CNV). On request, additional SNV-analysis, restricted to (the) requested gene panel(s) only (with the option of whole exome SNV-analysis afterward) was performed simultaneously (WES-CNV/SNV) or as rapid SNV-re-analysis, following a normal CNV analysis.
Objectives: To determine if the electrical heart axis in different types of congenital heart defects (CHD) differs from that of a healthy cohort at mid-gestation.
Methods: Non-invasive fetal electrocardiography (NI-fECG) was performed in singleton pregnancies with suspected CHD between 16 and 30 weeks of gestation. The mean electrical heart axis (MEHA) was determined from the fetal vectorcardiogram after correction for fetal orientation.