A prenatally diagnosed case of sirenomelia with dextrocardia and omphalocele.

Objective: Sirenomelia (Mermaid syndrome) is a rare anomaly of caudal region of the body, presented with fusion of the lower limbs. Genito-urinary, gastro-intestinal, neural tube and vertebral anomalies are found in most cases.

Methods: We present a case of sirenomelia diagnosed in the first tri-mester, associated with dextrocardia, and omphalocele

Conclusion: First trimester diagnosis of sirenomielia is possible and early diagnosis gives the parents the option of early pregnancy termination.

Antibiotic prophylaxis before second-trimester genetic amniocentesis (APGA): a single-centre open randomised controlled trial.

Objective: To compare procedure-related pregnancy loss after second-trimester genetic amniocentesis in women given an antibiotic prophylaxis and controls.

Methods: Prospective, open randomised controlled single-centre study between January 1999 and December 2005 at Artemisia Fetal Maternal Medical Centre. A follow-up within 4 weeks after the procedure was done.

An isolated fetal cor triatriatum dexter during a targeted anatomic survey at 22 weeks' gestation.

Objective: Cor triatriatum dexter is a rare cardiac malformation characterized by division of the right atrium into two compartments by a usually fenestrated membrane, whose degree of partitioning or septation is responsible for different clinical manifestations.

Methods: We report the first case of an isolated fetal cor triatriatum dexter that was diagnosed during ultrasound screening at 22 weeks of gestation.

Results: The sonographic examination of the fetal cardiac morphology revealed the presence of a membrane stretched between the medial and lateral walls of right atrium in the apical four-chamber view.

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.