Prenatal diagnosis of 18p deletion and 8p trisomy syndrome: literature review and report of a novel case.

18p deletion syndrome constitutes one of the most frequent autosomal terminal deletion syndromes, affecting one in 50,000 live births. The syndrome has un-specific clinical features which vary significantly between patients and may overlap with other genetic conditions. Its prenatal description is extremely rare as the fetal phenotype is often not present during pregnancy.

Prenatal Identification of a Novel Mutation in the Gene Associated with Autosomal Recessive Primary Microcephaly (MCPH) Using Next Generation Sequencing (NGS): A Case Report and Review of the Literature.

Background: is known as the microcephalin gene (OMIM: *607117), of which the encoding protein is a basic regulator of chromosome condensation (BCRT-BRCA1 C-terminus). The microcephalin protein is made up of three BCRT domains and conserved tandem repeats of interacting phospho-peptides. There is a strong connection between mutations of the gene and reduced brain growth.

Importance of Low Pregnancy Associated Plasma Protein-A (PAPP-A) Levels During the First Trimester as a Predicting Factor for Adverse Pregnancy Outcomes: A Prospective Cohort Study of 2636 Pregnant Women.

Objectives: The aim of this study is to investigate the predictive value of low levels of pregnancy associated plasma protein-A (PAPP-A) during the first trimester on adverse pregnancy outcomes, namely pregnancy induced hypertension (PIH), preeclampsia (PE), intrauterine growth restriction (IUGR), and fetal loss.

Methods: This is a prospective cohort study including 2636 women with singleton pregnancies that attended the Prenatal Diagnosis Unit of the First Department of Obstetrics and Gynecology of National and Kapodistrian University of Athens in "Alexandra Hospital" between 2017 and 2019 for the first trimester combined screening routine scan. The study population was divided into two groups according to their PAPP-A levels.

Prenatal diagnosis of Baraitser - Winter syndrome using exome sequencing: Clinical report and review of literature.

Baraitser - Winter Cerebrofrontofacial Syndrome (BWCFF) is a rare disorder characterized by facial dysmorphism and mental retardation of varying grades. The clinical phenotype of BWCFF indicates variable phenotypic expression involving various congenital malformations such as cardiac, renal and musculoskeletal abnormalities. Nevertheless, the prenatal presentation of BWCFF is rarely described, making prenatal diagnosis challenging.