Congenital hearing loss is a significant global health concern that affects millions of newborns and infants worldwide, posing substantial challenges for affected individuals, their families, and healthcare systems. This condition, present at birth, can stem from genetic factors, in utero exposures, infections, or complications during pregnancy or childbirth. The spectrum of congenital hearing loss ranges from mild to profound, impacting the development of speech, language, and cognitive skills, thereby influencing educational achievements, social integration, and future employment opportunities. Early detection and intervention strategies, such as newborn hearing screenings, genetic counseling, and the use of hearing aids or cochlear implants, are crucial for mitigating these impacts. This review article aims to explore the diagnostic approaches and management strategies for congenital cytomegalovirus-related hearing loss, emphasizing the importance of interdisciplinary care and the potential for technological advances to improve outcomes for affected individuals.

Cornelia de Lange syndrome (CDLS) is caused by pathogenic variants in genes which are structural or regulatory components of the cohesin complex. The classical Cornelia de Lange (CDLS) phenotype is characterized by distinctive facial features, growth retardation, upper limb reduction defects, hirsutism, and developmental delay. Non-classical phenotypes make this condition heterogeneous. Although CDLS is a heterogeneous clinical and genetic condition, clear diagnostic criteria have been described by specialist consensus. Many of these criteria refer to features that can be seen on prenatal ultrasound. The aim of this paper is twofold: to present the ultrasound findings in fetuses affected by CDLS syndrome; to discuss the recent advances and the limitations in the ultrasound and genetic prenatal diagnosis of CDLS. Our review aims to offer, apart from the data needed to understand the genetics and the prenatal presentation of the disease, a joint perspective of the two specialists involved in the prenatal management of this pathology: the fetal medicine specialist and the geneticist. To better illustrate the data presented, we also include a representative clinical case.

The increasing prevalence of bariatric surgery among women of childbearing age raises critical questions about the correct management of pregnancy following these procedures. This literature review delves into the multifaceted considerations surrounding pregnancy after bariatric surgery, with a particular focus on the importance of preconception counselling, appropriate nutrition assessment, and the necessity of correct folic acid supplementation. Key areas of investigation include nutrient absorption challenges, weight gain during pregnancy, and potential micronutrient deficiencies. Examining the relationship between bariatric surgery and birth defects, particularly heart and musculoskeletal issues, uncovers a twofold increase in risk for women who underwent surgery before pregnancy, with the risk emphasized before folic acid fortification. In contrast, a nationwide study suggests that infants born to mothers with bariatric surgery exhibit a reduced risk of major birth defects, potentially associated with improved glucose metabolism. In addition, this review outlines strategies for managing gestational diabetes and other pregnancy-related complications in individuals with a history of bariatric surgery. By synthesizing existing literature, this paper aims to provide healthcare providers with a comprehensive framework for the correct management of pregnancy in this unique patient population, promoting the health and well-being of both mother and child.

An allantoic cyst is a rare malformation with a frequency of 3 in 1,000,000 that may be seen antenatally by ultrasound assessment when the connection between the cloaca (future bladder) and the allantois fails to regress. A patent urachus that presents as a cyst (allantoic) is usually considered not to be associated with chromosomal abnormalities, but if it is not repaired after birth this leads to complications such as urinary tract infections and stone formation. We present a case of a fetus diagnosed with allantoic cyst at the first trimester ultrasound assessment at 12 weeks gestation. The follow up scans showed a decrease in size of the allantoic cyst with no other obvious major defects and, when invasive testing (amniocentesis with microarray analysis) was performed, a rare microdeletion, 1q21.1q21.2 was identified (1.82 Mb deletion).

Rubinstein–Taybi syndrome (RSTS) is a rare genetic disorder characterized by distinctive craniofacial, limb, and developmental abnormalities, often identified postnatally. Prenatal diagnosis remains challenging due to a scarcity of ultrasound diagnostic markers and a wide range of phenotypic manifestations. We describe the case of a 28-year-old pregnant patient who presented to our center after fetal abnormalities such as aberrant cranial morphology, a shorter femur, and rocker-bottom feet were detected. A comprehensive ultrasound examination at 26 weeks revealed skeletal and craniofacial characteristics suggestive of RSTS, which prompted genetic counseling and molecular karyotyping. Single-nucleotide polymorphism (SNP) array analysis confirmed a loss on chromosome 16p13.3, including the CREB-binding protein (CREBBP) gene, confirming the suspicion. This case emphasizes the importance of genetic testing and sophisticated prenatal imaging in enabling an early and precise diagnosis of RSTS, offering important information on its prenatal phenotype and supporting family counseling. Extensive research becomes vital in establishing precise ultrasound markers for the early detection of RSTS during pregnancy.

Breast cancer remains the most frequently diagnosed cancer in female population worldwide. However, germline mutations are responsible for a small proportion of these cases. The aim of our study is to assess how germline mutations influence the management and outcome of these patients taken into consideration both their cancer diagnosis and genetic assessment. We performed a retrospective analysis in a women's single-center during a period of six years to assess the contribution of germline mutation in the treatment, prognosis and survival of breast cancer patients. Statistics were collected from both the patients' medical records and genetics department. From the total number of patients treated for breast cancer in our department between 2017 and 2022, 243 were eligible for genetic testing, comprising either BRCA1/2 or extended panel, taking into consideration their personal and family history. Of all subjects included in our study cohort, 5% were carriers of a pathogenic(P) or likely pathogenic(LP) variant of cancer susceptibility gene, of which 78% were diagnosed before the age of 50; triple negative disease was diagnosed in the majority of cases, and therefore, 62% of patients started treatment with systemic neoadjuvant chemotherapy and 32% of subjects underwent upfront surgery. Prophylactic surgery for contralateral breast and bilateral salpingo-oophorectomy was considered and performed for 20% of patients. Less than 2% of cases had metastatic disease and received PARP inhibitors, with excellent treatment response and a very low rate of mortality in the study group. Carriers of pathogenic variants with breast cancer diagnosis may have a greater benefit from a tailored approach, including both surgical and oncological treatment, with better long-term outcomes.