Establishing perinatal and neonatal features of Prader-Willi syndrome for efficient diagnosis and outcomes

ABSTRACT Introduction Prader-Willi syndrome (PWS) is the most common genetic disease causing childhood morbid obesity. Early diagnosis and treatment are utmost important for improving prognosis and bettering outcome in PWS patients. However, the early diagnosis rate is still relatively low. One of the main reasons for delayed diagnosis is not sufficient recognition of perinatal and neonatal features of PWS in clinicians. Recognizing the perinatal features of PWS for early diagnosis is now becoming a hot research interest. Areas covered This review covers perinatal and neonatal features recognition which are valuable for obstetricians and neonatologists. We also provide a detailed genetic testing flow diagram for reference. A comprehensive search was undertaken using the databases including PubMed, Web of Science, Scopus, Cochrane databases. Expert opinion For obstetricians, if the pregnant women had combined prenatal features including polyhydramnios, decreased fetal movement, and or abnormal intrauterine fetal growth, amniocentesis can be considered, and PWS should be included as a differential diagnosis. For excluding diagnosis of PWS, methylation test should be done, and MS-MLPA is the optimal choice. If amniocentesis is not possible, molecular testing should be appointed after birth as soon as possible particularly for the neonates with presentations of hypotonia or sucking problem/feeding difficulty.