What should be done about babies with chromosomal abnormalities?

Patient's question:

A 6-month-old baby cannot lift their head, can roll over, has a normal appetite, and shows no significant abnormalities, but sometimes they shake. What should be done if the baby has chromosomal abnormalities?

Doctor's answer:

Hello, an ultrasound examination of the fetal neck translucency can be performed in the early stage of pregnancy. At 16-18 weeks of gestation, a prenatal screening for Down syndrome should be conducted. The purpose of these tests is to identify and eliminate fetuses with trisomy 21, trisomy 18, neural tube defects, or chromosomal karyotype abnormalities. These abnormalities may lead to intellectual disability, deafness, and mutism after birth. Therefore, it is crucial to actively eliminate fetuses with chromosomal karyotype abnormalities. If a neural tube defect is detected in the fetus, it should be addressed promptly.

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