Patient's question:
Baby was just born, the doctor looked at him and said the child might be mentally retarded, suggesting we have a blood test. It was recommended to send him to Zhengzhou to get the test results in about 20 days. Later, we had the blood test. On February 14th and 15th, we had the blood drawn. On the 18th, our family asked if the results were out. It wasn't sent to Zhengzhou for testing; it was tested at the Infertility Laboratory of Anyang Maternal and Child Health Hospital. The result was Down syndrome.Doctor's answer:
Hello, the diagnosis is primarily based on symptoms such as varying degrees of intellectual disability, distinctive facial features, and transverse palmar creases, leading to this direction of diagnosis. Chromosome testing is used for confirmation, identifying it as a genetic disorder. Currently, your and your partner's chromosomes are unknown, and the probability is merely an estimate made by doctors based on symptoms, without a scientific basis for calculating a precise probability. The life details you have described are insufficient to rule out the disease, especially since some of these conditions involve heterozygotes that develop gradually, with intelligence also deteriorating slowly over time. In childhood, some individuals may appear almost indistinguishable from normal children.