Screening for chromosomal disorders, especially for trisomy 21, has undergone a number of
changes in the last 50 years. Today, cell-free DNA analysis (cfDNA) is the gold standard in …

Introduction Currently fetal nuchal translucency (NT)≥ 3.5 mm is an indication for invasive
testing often followed by chromosomal microarray. The aim of this study was to assess the …

Das Ersttrimester-Screening zwischen 11+ 0 und 13+ 6 Wochen mit qualifizierter Beratung,
differenzierter Organdiagnostik sowie maternalen und biochemischen Markern ist die …

Importance Cell-free DNA (cfDNA) tests are increasingly being offered to women in the first
trimester of pregnancies at a high risk of trisomy 21 to decrease the number of required …

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

Fetal malformations occur in 2–3% of pregnancies. They require invasive procedures for
cytogenetics and molecular testing.“Structural anomalies” include non-transient anatomic …

Objectives To investigate by means of a population‐based analysis of a cohort of women
who underwent combined first‐trimester screening (CFTS), changes in uptake of invasive …

Introduction Denmark was the first country in the world to implement a national, free‐for‐all
offer of prenatal screening for Down syndrome to all pregnant women. It has a high uptake …

Background Microdeletions and microduplications can occur in any pregnancy independent
of maternal age. The spectrum and features of pathogenic copy number variants including …

DNA (cfDNA) has reshaped the way first‐trimester screening (FTS) is performed. In several
countries NIPT is offered as second line screening, after the combined test (CT) including …