The Pediatric and Placental Pathology Program specializes in the evaluation of tissue specimens from patients of pediatric age (0-18 years), and from perinatal specimens including evaluation of fetal malformations and placentas. We diagnose solid tumors specific of infancy and pediatric age, and evaluate liver biopsies for cholestatic disease of infancy and pediatric liver transplants. We specialize in the evaluation of gastrointestinal biopsies of pediatric patients with particular interest in Hirschsprung disease, eosinophilic esophagitis, celiac disease, and pediatric idiopathic inflammatory bowel disease. The perinatal portion of the service provides evaluation of placentas in addition to evaluation of fetal malformations in collaboration with the Yale maternal fetal medicine service. Our services include: Examination of developmental, infectious, metabolic, and neoplastic disorders of childhood; Hirschsprung disease; small “blue round cell” tumors; congenital malformations, including cardiac and other system Placental pathology Electron microscopy and biochemical studies of metabolic disorders Immunohistochemistry Advanced molecular diagnosis

At the Pediatric Genomics Discovery Program (PGDP) at Yale, we offer patients and their families with potential undiagnosed genetic diseases an opportunity to be evaluated by a team of physician-researchers specializing in genetics. Roughly one in 30 babies are born in the U.S. each year with genetic conditions. These conditions can range from abnormal limbs, to a permanently weakened heart, to an overly curved spine. In some cases, a medical team might be able to trace the exact cause of a condition to a cellular level. In other cases, however, the cause of a child's disease remains unclear even after extensive evaluation and testing. Our program welcomes physician referrals on behalf of their patients as well as self-referrals from families searching for information about genetic causes for their child’s illness. Once we receive a referral, we will review such information as details of the medical history and prior testing results. Based on this information, we will decide the next step, which may include a clinic visit, further testing, or possible suggestions for referral to a research coordinator for clinical trial enrollment.