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. In this study, we investigated the possibility that submicroscopic chromosomal changes, not detectable by conventional cytogenetic analysis, exist in euploid miscarriages and could be causative for the spontaneous abortion. We analysed with array-CGH technology 40 foetal tissue samples derived by first-trimester miscarriages with a normal karyotype. A whole-genome microarray with a 100-Kb resolution was used for the analysis. Forty-five copy number variants (CNVs), ranging in size between 120 Kb and 4.3 Mb, were identified in 31 samples (24 gains and 21 losses). Ten samples (10/31, 32 %) have more than one CNV. Thirty-one CNVs (68 %) were defined as common CNVs and 14 were classified as unique. Six genes and five microRNAs contained within these CNVs will be discussed. This study shows that array-CGH is useful for detecting submicroscopic CNVs and identifying candidate genes which could account for euploid miscarriages.

[Intestinal intussusception in pregnancy with obstruction, caused by benign neurilemmoma. Role of abdominal echocardiography in the preoperative diagnosis]. / Invaginazione intestinale in gravidanza con occlusione, causata da neurilemmoma benigno. Ruolo dell'ecografia addominale nella diagnosi preoperatoria.

A rare case of intestinalm obstruction caused by intussusception of the small bowel due to an intraparietal benign neurilemmoma (synonym: benign schwannoma) in a patient 35th weeks pregnant is reported. It is assumed that intestinal intussusception during pregnancy is a rare complication and the diagnosis is made difficult due to the pregnancy itself, delaying the onset of symptoms and treatment. The echography was the determining factor for the diagnosis. The conclusion is drawn that surgical operation, associated or not with the cesarean section, should be carried out as quickly as possible in order to reduce the mortality rate both maternal and fetal.