Patient's question:
Patient: Female, 24 years old. Has undergone laparoscopic removal of uterine appendages and ovarian cysts. Regarding the current condition:1. In the early stages of pregnancy, there were signs of miscarriage, and she was hospitalized for more than ten days for bed rest.
2. Prenatal screening for Down syndrome showed low risk for the first two tests but high risk for neural tube defects.
3. The baby is now 18 weeks old, and a detailed ultrasound examination confirmed no anencephaly.
4. She has thalassemia and is a carrier of hepatitis B.
What kind of help is needed:
1. What further tests should be done to ensure the safety of the child.
2. I want to know if Down syndrome is a hereditary disease in my family.
3. What is the likelihood of the newborn having intellectual disabilities?
Doctor's answer:
Down syndrome is caused by a chromosomal abnormality and is related to hereditary transmission across generations. It is recommended to undergo amniocentesis, as its accuracy is higher than that for Down syndrome. In addition, a four-dimensional ultrasound examination should be performed at 24 weeks to check for any abnormalities in the fetus's external appearance and internal organs. If a neural tube defect is diagnosed, the newborn will have intellectual disabilities, such as severe deformities like mental retardation and disabilities.