Best diagnosed with USG at first trimester

Ans. A. Anencephaly Ref: DC Dutta's obstetric p408ExplanationIn the first half of pregnancy, the diagnosis of anencephaly is made by elevated alpha-fetoprotein in amniotic fluid and confirmed by sonography.Question not recalled properly: Imerslund-Grasbeck syndrome, its cause was asked.ExplanationCaused by low levels of vitamin B12 (also known as cobalamin).The characteristic features are# Megaloblastic anemia.# Proteinuria (-50% cases)# Normal kidney function.Typically begins in infancy or early childhood.Symptoms include:# An inability to grow and gain weight at the expected rate (failure to thrive),# Pale skin (pallor),# Excessive tiredness (fatigue), and# Recurring gastrointestinal or respiratory infections.# Other features include mild neurological problems, such as weak muscle tone (hypotonia), numbness or tingling in the hands or feet, movement problems, delayed development, or confusion.Mutations in the AMN or CUBN gene. The AMN gene provides instructions for making a protein called amnionless, and the CUBN gene provides instructions for making a protein called cubilin which are in turn responsible for uptake of Vit bl2 in body.Management is symptomatic.