China’s National Health Commission issued the Birth Defects Prevention and Control Plan, proposing a 90% prenatal genetic screening rate by 2027

On August 24, NHC issued the Birth Defects Prevention and Control Plan (2023-2027), proposing that by 2027, China's birth defects prevention and control services will be more universally accessible, and that the prenatal genetic screening rate to reach 90%.

The Plan makes it clear that a more complete network covering urban and rural residents and covering premarital, pre-pregnancy, pregnancy, newborns, and children at all stages of life, should be established, and that the capacity for comprehensive prevention and treatment of birth defects should be significantly enhanced. 

By 2027:

The services should be more inclusive and accessible with the coverage of preventive measures has been further improved. The rate of premarital medical examinations should be maintained at over 70%, the prenatal genetic screening rate should be 90%, the rates of diagnosis and treatment of newborns with genetic-metabolic disorders within two weeks, such as phenylketonuria and congenital hypothyroidism should reach 90%, and the rates of diagnosis of neonatal hearing disorders within three months and the rate of interventions within six months should reach 90%.

Several major birth defects that cause death and disability should be effectively controlled. New progress should be made in focusing on the prevention and treatment of key birth defects such as severe congenital heart disease, Down's syndrome, congenital hearing impairment, thalassemia major, and phenylketonuria, with the national mortality rates of infants and children under 5 years of age due to birth defects dropping to less than 1.0‰ and 1.1‰.

China will also carry out genetic screening for phenylketonuria, congenital hypothyroidism, hearing impairment and congenital heart disease, and expand the areas in which the newborn congenital heart disease screening programme is being implemented to cover all counties (cities and districts) across the country by 2025, with the screening rate, diagnosis rate and intervention rate all reaching 80% by 2027.

According to the Plan, each province shall set up a provincial prenatal diagnostic center, and in principle, each city shall set up a prenatal diagnostic institution, with at least one prenatal screening institution that independently carries out biochemical and immunological laboratory tests in each county.

On 12 September, NHC released a list of medical institutions approved to carry out prenatal diagnostic techniques, totaling 527, covering 30 provinces.

The China Birth Defects Prevention and Control Report predicts that the incidence of birth defects in China is around 5.6%. Companies involved in advanced prenatal genetic screening methods such as NIPT mainly include BGI Genomics, Berry Genomics and Daan Gene.

BGI Genomics, in June 2014, received the first medical device license for the NIPT instruments and kits from China’s National Medical Products Administration. In 2018, launched single-gene NIPT in China. In 2023, the technology was upgraded to combine with the authoritative database of disease variants to effectively prevent and control more than 200 dominant single-gene diseases.

Based on the products covering the prevention and control system for birth defects, Berry Genomics will soon launch products including NIPT for single-gene disorders and localized solutions for clinical exome testing.

Based on a multi-technology platform of molecular diagnostics, biochemical diagnostics, immuno-diagnostics, mass spectrometry diagnostics, POCT, etc., Daan Gene focuses on the field of full-cycle health testing for mothers and children and develops a variety of in vitro diagnostic reagents.