Chromosomal mosaicism is one of the primary interpretative issues in prenatal diagnosis. In
this review, the mechanisms underlying feto-placental chromosomal mosaicism are …

A comment on this article appears in" Genetics of fetal growth restriction-Isolated is not
syndromic: Comments on the paper entitled" Genetic syndromes associated with isolated …

Objectives Chromosomal mosaicism in chorionic villi (CV) is detected in~ 1–2% of cases.
When a mosaic in CV is detected during prenatal diagnosis, a confirmatory karyotype should …

The aim of this study was to devise an evidence-based scoring system for prioritizing mosaic
aneuploid embryos for transfer. A retrospective analysis was performed of all sequential …

Objective Direct chromosome preparations of chorionic villus samples (CVS) and cell‐free
DNA (cfDNA) testing both involve analysis of the trophoblastic cell lineage. The aim of this …

Objective Non‐invasive prenatal detection of aneuploidies can be achieved with high
accuracy through sequencing of cell‐free maternal plasma DNA in the maternal blood …

Uniparental disomy (UPD) is the inheritance of both homologous chromosomes from a
single parent. Most chromosomes involving UPD have no pathogenic effects. However …

Background Non syndromic craniosynostoses are the most frequent craniofacial
malformations worldwide. They represent a wide and heterogeneous group of entities, in …

Objective To evaluate the risk of adverse pregnancy outcome when trisomy 16 confined to
the placenta is diagnosed and to identify possible prognostic markers for adverse outcomes …

Uniparental disomy (UPD) is a topic, which normally is considered to be something
molecular genetics has to take care of exclusively. As UPD is characterized by microsatellite …