Patient's question:
The doctor said the external features resemble Down syndrome, wide-set eyes, often sticking out the tongue, palm with a single transverse crease, loves napping, and will never suck on a pacifier.Doctor's answer:
According to the provided information, due to the baby currently having signs and symptoms similar to Down syndrome, such as wide-set eyes and transverse palmar creases, further careful examination is needed to confirm the diagnosis. Since the Down syndrome screening performed between 16-20 weeks of pregnancy has a high false-positive and missed diagnosis rate, there is a possibility that the baby could be missed. If the baby has not undergone amniocentesis or non-invasive DNA testing, it is recommended to have the baby undergo cytogenetic testing at the local hospital to confirm the diagnosis. I hope this helps.