Question
Experiencing threatened miscarriage in early pregnancy, the screening results for Down syndrome and neural tube defects are low risk and high risk, respectively. Is this situation considered a genetic disorder?
Answer
Based on the patient’s description, there was a threatened miscarriage in early pregnancy, and screening for Down syndrome and neural tube defects was conducted, with the results showing low risk for the former and high risk for the latter. The doctor advises a follow-up examination to confirm the diagnosis and take appropriate measures, including the possibility of undergoing a miscarriage procedure. Additionally, Down syndrome is recognized as a family recessive genetic disorder, even though parents may not exhibit signs of mental retardation, they may carry related genes, increasing the risk of their offspring being affected. Neural tube defects are not directly related to genetics but may affect the fetal nervous system development.