The genetic autopsy.

Purpose of reviewTo assess the relevance of perinatal and pediatric autopsies in genetic and metabolic diseases.Recent findingsGenetic investigations are an important component of fetal autopsies. Despite the advances in imaging diagnosis, the autopsy can identify abnormalities not seen on ultrasound or MRI, as confirmed in recent comparative studies. This is crucial in the diagnosis of syndromic conditions in which the information may be essential to determine the syndrome. Genetic tests may also have a role in the investigation of intrauterine growth restriction and unexplained stillbirth. New techniques have increased the diagnostic yield, even in cases of macerated fetuses.The genetic autopsy is not limited to fetal loss. Genetic abnormalities underlie many cases presenting as sudden unexpected death in infancy, childhood and adolescence, and the need to obtain appropriate samples for genetic analysis applies not only to fetal autopsies.SummaryFetal autopsies are still the gold standard in diagnosis of fetal abnormalities. Genetic studies are an important component, not only in cases of congenital malformations, but also in unexplained intrauterine death and sudden unexpected death in infancy, as well as in children and adults.