Genomic Complexity and Complex Chromosomal Rearrangements in Genetic Diagnosis: Two Illustrative Cases on Chromosome 7.

Complex chromosomal rearrangements are rare events compatible with survival, consisting of an imbalance and/or position effect of one or more genes, that contribute to a range of clinical presentations. The investigation and diagnosis of these cases are often difficult. The interpretation of the pattern of pairing and segregation of these chromosomes during meiosis is important for the assessment of the risk and the type of imbalance in the offspring.

Fibroids-related complications in pregnancy: a twelve-year long experience at a maternal-fetal medicine referral center.

Background: Uterine fibroids are the most frequent female benign tumor, which can cause complications during pregnancy, mainly pain. Differential diagnosis may be challenging and a standardized management approach is lacking. We aim to propose an algorithm for the differential diagnosis of pain during pregnancy and for management of fibroid-related pain.

Cardiac and obstetric outcomes in pregnant women with heart disease: appraisal of the 2018 mWHO classification.

Objective: To appraise the application of the 2018 European Society of Cardiology-adapted modified WHO (mWHO) classification to pregnant women with heart disease managed at our maternal-fetal medicine referral centre and to assess whether the lack of a multidisciplinary Pregnancy Heart team has influenced their outcomes.

Methods: A retrospective cohort study including all pregnancies with heart disease managed at our centre between June 2011 and December 2020. Cardiac conditions were categorised in five classes according to the mWHO classification.

A new case report of severe mucopolysaccharidosis type VII: diagnosis, treatment with haematopoietic cell transplantation and prenatal diagnosis in a second pregnancy.

A new patient with severe mucopolysaccharidosis (MPS) type VII is reported. Non-immune hydrops fetalis (NIHF) was diagnosed during pregnancy. At birth, he showed generalized hydrops and dysmorphic features typical of MPS.

Novel neurofibromatosis type 2 mutation presenting with status epilepticus.

Neurofibromatosis type 2 (NF2) is a dominantly inherited syndrome caused by mutations of the tumour-suppressor NF2, which encodes the merlin protein. Mutations are associated with a predisposition to development of benign tumours in the central nervous system. Even though cerebral cortical lesions are frequently associated with seizures, epilepsy is rarely described in NF2.

Large pericardial effusion in a family with recurrent pericarditis: A report of probable x-linked transmission.

Three cases of recurrent pleuropericarditis were observed within the same family - in two sisters and their niece, who were 18, 35 and 18 years of age, respectively. One patient was treated with pericardiectomy, and the other two were treated with colchicine. Mutations associated with autoinflammatory diseases (tumour necrosis factor receptor-associated periodic syndrome and familial Mediterranean fever) were absent; the condition was found to be sex linked.

Role of FISH on uncultured amniocytes for the diagnosis of aneuploidies in the presence of fetal anomalies.

Objective: To assess the accuracy of fluorescent in situ hybridization (FISH) on amniocytes in fetuses affected by structural malformations suggestive of chromosomal anomalies.

Methods: FISH of uncultured amniotic fluid cells and conventional cytogenetic analysis were performed on 48 pregnancies with ultrasonographic (US) evidence of fetal anomalies. The AneuVysion assay (Vysis) with specific probes for chromosomes 13, 18, 21, X and Y, was used.

A prospective study of the role of ultrasound in the management of adnexal masses in pregnancy.

Objective: To assess the clinical relevance of adnexal masses in pregnancy and the usefulness of ultrasound in their management.

Design: A prospective study on pregnancy complicated by adnexal masses.

Setting: Department of Obstetrics and Gynaecology in Italy.