Genetic Investigations (The Synergy Between Obstetrician and Geneticist in the Prenatal Diagnosis of Congenital Defects)

Genetic investigations play a pivotal role in the prenatal diagnosis of congenital defects, and the collaboration between obstetricians and geneticists is essential to ensuring comprehensive care for expectant parents. This synergy brings together the expertise of both specialties to provide a thorough assessment of genetic risks, early detection of abnormalities, and informed decision-making throughout the prenatal period. When structural abnormalities are highlighted during ultrasound examinations, genetic counseling should be offered to each pregnant woman to evaluate the best diagnostic options, with their relative advantages, limitations, and risks. Currently, the diagnostic options are standard karyotype, fluorescence in situ hybridization (FISH), microarray analysis (CGH array and SNP array), targeted gene sequencing of individual genes or groups of genes, and whole-exome sequencing (WES) or whole-genome sequencing (WGS). In the field of osteodysplasias, when ultrasound examinations reveal the presence of signs suggestive of a skeletal pathology, it is possible to request the study of a skeletal disease panel through targeted sequencing of the most frequently involved genes.