What are the four diseases included in newborn screening?

The four main diseases screened for in newborns include phenylketonuria, congenital hypothyroidism, glucose-6-phosphate dehydrogenase deficiency, and congenital adrenal hyperplasia. If any abnormalities are detected, timely medical attention is recommended. The specific details are as follows:

1. Phenylketonuria (PKU): This is an inherited metabolic disorder in which newborns lack the enzyme necessary to metabolize phenylalanine, leading to its accumulation in the body and affecting the nervous system. Screening mainly involves measuring the level of phenylalanine in the newborn's blood.

2. Congenital Hypothyroidism: This condition refers to the inability of the newborn's thyroid gland to produce sufficient thyroid hormones, which can affect the newborn's growth and intellectual development. Screening primarily involves measuring the concentration of thyroid-stimulating hormone (TSH) in the newborn's blood.

3. Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency: This is a genetic disorder that affects glucose metabolism in the body. Screening is performed by measuring the concentration of G6PD in the newborn's blood.

4. Congenital Adrenal Hyperplasia (CAH): This is an inherited metabolic disorder caused by a deficiency in one or more enzymes in the adrenal corticosteroid biosynthesis pathway, resulting in insufficient synthesis of adrenal corticosteroids. It may lead to abnormal growth and development of sexual characteristics. Screening involves measuring the concentration of 17-hydroxyprogesterone or other related hormones in the newborn's blood.

These newborn screening tests are typically conducted within a few days to weeks after birth by collecting a blood sample from the newborn. Screening results can help physicians diagnose problems early and promptly implement treatment measures to ensure the healthy development of the newborn. Parents should pay attention to newborn screening and actively cooperate with the physician's diagnostic and treatment recommendations.