Question
Patient: Female, 24 years old. Has undergone laparoscopic removal of ovarian cysts in the past. Experienced threatened miscarriage in early pregnancy and was hospitalized for more than ten days to preserve the pregnancy. The first two screening tests for Down syndrome were low risk, but high risk for neural tube defects. The child is now 18 weeks old, and detailed ultrasound examination ruled out anencephaly. The patient has thalassemia and is a carrier of hepatitis B. What kind of assistance is needed?
Answer
Down syndrome (Down syndrome) is a chromosomal abnormality disease associated with genetics. For your situation, it is recommended to undergo amniocentesis, which is a more accurate testing method to further determine if the fetus has Down syndrome. Moreover, it is suggested to have a 4D ultrasound around the 24th week of pregnancy to check for any abnormalities in the fetus’s appearance and internal organs. If a neural tube defect is diagnosed, it may lead to severe malformations such as intellectual disability (mental retardation) and disabilities in the newborn.