Questions

What are common questions about neonatal disease screening?

Answers

Common questions during neonatal screening include:

  1. G6PD deficiency, also known as fava bean disease, which may lead to jaundice and anemia in newborns;
  2. Congenital hypothyroidism, which requires thyroid function tests and thyroid ultrasound for diagnosis, followed by early treatment;
  3. Phenylketonuria: If the screening results are above the standard, further diagnosis and special treatment measures are required, such as special formula milk and medication;
  4. Congenital adrenal hyperplasia: Confirmed through hormone testing, early symptoms may include darker skin, metabolic abnormalities like vomiting, diarrhea, and dehydration.