Prenatal screening of Cystic Fibrosis: a single centre experience.

Objective: The gene responsible for the pathogenesis of cystic fibrosis has been known for over 15 years and represent the most common autosomal recessive disease in the european population. We aimed to investigate the incidence of this condition during fetal life.

Methods: In the past 10 years we examined in our centre 25393 fetuses of women underwent to amniocentesis.

Prenatal Aneuploidies Computerized Screening (SCA TEST): a pilot study on 1000 women.

The SCA-TEST, Prenatal Aneuploidies Screening, is an innovating program with very articulated and differentiated calculation potentials. It is a software which allows executing a sequence-like rational screening involving the ultrasound study of the first and second trimester. The program enables to execute a complete and different- levels combined screening, through very sophisticated mathematic analysis methods.

A case report of a meiotic segregation study on a small supernumerary marker chromosome.

Small supernumerary marker chromosomes (sSMCs) have been described from all human chromosomes with different sizes and shapes. However, it is difficult to know the clinical manifestations associated with them, because such knowledge depends on the size, presence of euchromatic material, degree of mosaicism and/or uniparental disomy (UPD).A case report of a familial small supernumerary marker chromosome (sSMC) through a structural and a segregation study is reported.

Transplacental amniocentesis: is it really a higher-risk procedure?

The aim of this study was to compare transplacental with non-transplacental amniocentesis in terms of related complications. Between January 1991 and December 1992, 4564 genetic amniocenteses were performed in 4527 patients (4491 singleton, 35 twin, and one triplet pregnancy) at 15-16 weeks of gestation. All the procedures were ultrasound-guided and performed by the same operator.