Case 401 Medical history Pregnant, 34-years-old, in her fourth pregnancy, gestational age of 24 weeks, with no remarkable medical history, showing well development of pregnancy, of habitual risk. Folic acid was not supplemented in pre-conceptional period. The patient was referred to Fetal Medicine service due to ultrasound finding in the second trimester, performed in the 22º week. No other structural abnormality was observed. Image 1: Ultrasound of fetal vertebral column, showing lumbosacral portion, performed in 24º week. Question:Considering the clinical history and images presented, what is the better medical conduct? To maintain ultrasound follow-up to assess the condition and monitor the level of folate in maternal blood. To request amniocentesis to evaluate the fetal karyotype due to the high probability of genetic syndrome. To advise the patient on the possibility of intrauterine correction of the pathology. To request maternal measurement of serum alpha-protein to assist the confirmation of the diagnosis. Test question (USP – 2020) Medical residencyPatient with one 1-year-old son, desires new pregnancy and demands preconception counseling. A photograph of the child, as newborn, is observed: Question:What is the specific orientation related to this case? Genetic counseling with karyotype of the couple. Serology for cytomegalovirus, toxoplasmosis, herpes. Research on methylene tetrahydrofolate reductase mutation. Pre-conceptional folic acid supplementation. Time is Up! Time's up
