Patient's question:
Yesterday, I went to get my Down syndrome screening report and found out I'm high-risk, possibly carrying a Down syndrome baby. I was terrified. What should I do? What is the best week to have an amniocentesis? I'm currently 21 weeks pregnant. Can I still do it?Doctor's answer:
Analysis of the condition: Down syndrome screening is a method that involves drawing maternal serum to detect the concentration of alpha-fetoprotein and human chorionic gonadotropin in the mother's serum. By combining the mother's due date, age, weight, and gestational age at the time of blood collection, it calculates the risk factor for giving birth to a child with Down syndrome.Guidance: The patient generally exhibits intellectual disability, a small and round head, a flat nasal bridge, small and outwardly slanted eye fissures, wide-set eyes, a semi-open mouth, and a tongue often protruding from the mouth. The ears are positioned low (the upper edges of both ears are below the horizontal line of the eyes). The neck is short and thick, the fingers and toes are short, the fingers curve inward, and the small finger has a single palmar crease, indicating a transverse palm. The ball of the thumb shows a proximal arch-like pattern, and the distance between the thumb and the second toe is widened, presenting a "sandal foot" appearance. The patient often suffers from genital, cardiac, digestive tract, and skeletal deformities. The immune system is weakened, and the incidence of acute leukemia is about 20 times higher than that of general children. Previously, the life expectancy of patients was very low, but the average life expectancy has increased to around 50 years, only slightly lower than that of normal individuals.