Newborn screening in Zhejiang, China

Area of Science:

• Public Health
• Genetics
• Pediatrics

Background:

• Newborn screening (NBS) programs are crucial for early detection of genetic disorders.
• Zhejiang province initiated its NBS program in 1999.

Purpose of the Study:

• To analyze the status and outcomes of NBS in Zhejiang from 1999 to 2009.
• To determine the incidence of congenital hypothyroidism (CH) and phenylketonuria (PKU) in the screened population.

Main Methods:

• Heel-prick blood samples collected 72 hours post-birth.
• Laboratory testing for CH (thyroid-stimulating hormone) and PKU (phenylalanine).
• Dissociation-enhanced lanthanide fluorescent immunoassay (DELFIA) utilized for detection.

Main Results:

• Over 3.8 million newborns were screened between 1999 and 2009.
• 2,309 cases of CH (incidence 1:1678) and 155 cases of PKU (incidence 1:25001) were confirmed.
• High detection rates highlight the effectiveness of the screening program.

Conclusions:

• The Zhejiang NBS program successfully screened millions of newborns over 11 years.
• Early diagnosis and treatment were provided to over 2,000 infants with CH and PKU.
• The program plays a vital role in preventing severe developmental outcomes.