First-trimester euploid miscarriages analysed by array-CGH.

It is estimated that 10-15 % of all clinically recognised pregnancies results in a miscarriage, most of which occur during the first trimester. Large-scale chromosomal abnormalities have been found in up to 50 % of first-trimester spontaneous abortions and, for several decades, standard cytogenetic analysis has been used for their identification. Recent studies have proven that array comparative genomic hybridisation (array-CGH) is a useful tool for the detection of genome imbalances in miscarriages, showing a higher resolution, a significantly higher detection rate and overcoming problems of culture failures, maternal contamination and poor chromosome morphology.

[Prenatal diagnosis of thanatophoric dysplasia at 21st week of pregnancy].

We report making the prenatal diagnosis of thanatophoric dysplasia without "cloverleaf" skull at 21 weeks gestation. The ultrasound examination showed short and bowed limbs, narrow thorax, and large head. Radiological and histological studies confirmed the aborted fetus to be affected with thanatophoric dysplasia.