Background Tests in pregnancy such as chromosomal microarray analysis and exome
sequencing are increasing diagnostic yield for fetal structural anomalies, but have greater …

Objective We conducted a survey‐based discrete‐choice experiment (DCE) to understand
the test features that drive women's preferences for prenatal genomic testing, and explore …

Introduction Applying whole‐exome sequencing (WES) for the diagnosis of diseases in
children has shown significant diagnostic strength compared with chromosomal microarray …

For a number of prospective parents, uncertainty during pregnancy starts when an anomaly
is found during a routine fetal anomaly scan. This may be followed by numerous tests to …

Objectives To conduct qualitative interviews with healthcare providers working in different
countries to understand their experiences of dealing with uncertain results from prenatal …

Introduction In 2011, it was decided to implement chromosomal microarray in prenatal
testing in the Central Denmark Region, mainly due to the expected higher diagnostic yield …

Although there are numerous benefits to diagnostic prenatal testing, such as fetal exome
sequencing, there are also consequences, including the possibility of receiving variants of …

Prenatal DNA tests, such as chromosomal microarray analysis or exome sequencing,
increase the likelihood of receiving a diagnosis when fetal structural anomalies are …

BACKGROUND The rate of clinically significant copy number variants in chromosomal
microarray analysis in low-risk pregnancies is approximately 1%. However, these results …

Background Chromosomal microarray analysis (CMA) may detect variants of uncertain
clinical significance (VUS) and susceptibility loci (SL) with incomplete penetrance for …