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 …

Cytogenetics is the study of chromosome morphology, structure, pathology, function, and
behavior. The field has evolved to embrace molecular cytogenetic changes, now termed …

Clinicians are encouraged to document the reasons for the use of a particular procedure or
test, whether or not it is in conformance with this statement. Clinicians also are advised to …

OBJECTIVE: To report the full cohort of identifiable anomalies, regardless of known clinical
significance, in a large-scale cohort of postmiscarriage products-of-conception samples …

The field of preimplantation genetic testing (PGT) is evolving fast, and best practice advice is
essential for regulation and standardisation of diagnostic testing. The previous ESHRE …

Testing cell-free DNA (cfDNA) in maternal blood samples has been shown to have very high
sensitivity for the detection of fetal aneuploidy with very low false-positive results in high-risk …

Objectives We wanted to re-evaluate the influence of confined placental mosaicism
subtypes (type 2 and type 3) on pregnancy characteristics and outcome. Material and …

Chromosomal mosaicism is the presence of numerous cell lines with different chromosomal
complements in the same individual. Uniparental disomy (UPD) is the inheritance of two …

Objective: To review all cases with segmental and/or complex uniparental disomy (UPD)
and to discuss the impact of these cases on medical genetics. Design: Searching for …