Question

A parent inquires about their 14-month-old baby’s facial features that resemble those of Down syndrome, though not very apparent, yet still a cause for concern. The parents mentioned undergoing an amniocentesis test during pregnancy, which resulted in normal findings. However, they have observed some characteristics in their child, such as soft bones, relaxed muscles, and frequent urination, prompting them to doubt the accuracy of the amniocentesis. They want to know if the hospital might have made a low-level error, such as mixing up amniotic fluid samples.

Answer

The doctor points out that hospitals generally do not make such low-level errors. Moreover, the intellectual development of a 14-month-old should be evident. If the child does not have intellectual issues, it can be basically determined that it is not Down syndrome. Babies with Down syndrome typically have distinctive facial features, such as understanding palm prints and short fingers, often accompanied by heart problems and significant intellectual disability, which are very challenging to care for. Since the child’s development is going well, parents do not need to worry too much. The doctor advises that the parents can bring their child to a children’s hospital for a routine examination.