On this 12th of October, China observes National Birth Defects Prevention Day with the theme “Prevent Birth Defects, Safeguard the Healthy Beginning of Life.” A representative from the National Health Commission highlighted that through comprehensive prevention and treatment strategies, China has significantly reduced mortality rates for infants and children under five due to birth defects, alongside a notable decrease in the incidence of major birth defects.
Birth defects, which encompass structural or functional abnormalities present before birth, are often attributed to genetic factors, environmental influences, or a combination of both. Unfortunately, they remain a leading cause of infant mortality and congenital disabilities. Since 2012, China has achieved over a 50% reduction in infant mortality rates from birth defects in children under five, with severe conditions such as neural tube defects and Down syndrome also declining by about 44%.
This progress is closely linked to enhanced screening and examination rates. Nationwide, the pre-pregnancy check-up rate has reached an impressive 96.9%, while prenatal screening is currently at 91.3%. Moreover, screenings for newborn genetic metabolic disorders and hearing impairments exceed 98%. Various initiatives have been implemented, including free marriage checks in 24 provinces and free prenatal screenings in 18, alongside 21 provinces starting free screenings for newborn genetic metabolic diseases and hearing disabilities. Notably, 11 provinces have incorporated special dietary treatments for phenylketonuria into their basic health insurance plans.
Shen Haiping, Director of the Maternal and Child Health Department at the National Health Commission, emphasized the importance of effective implementation of county-level screenings, city-level diagnoses, and provincial-level guidance for birth defect diseases.
The National Health Commission has also introduced the “Birth Defects Prevention and Control Capability Enhancement Plan (2023-2027),” which encompasses six measures and 18 tasks aimed at strengthening a comprehensive health care chain that spans from pre-marriage to prenatal, pregnancy, and care for newborns and children, making preventive services more accessible.
However, families with children born with defects still face significant challenges. With over 8,000 known types of birth defects in China, rare diseases often arise from these conditions. Many families report facing “difficulties in diagnosis,” which compound the struggles related to their circumstances.
Recently, the National Health Commission, in partnership with the China Birth Defects Intervention and Rescue Foundation, organized a specialized free clinic in Jiamusi, Heilongjiang Province. This event attracted over 400 children traveling from far distances, with many parents bringing extensive medical histories seeking expert guidance. For example, 14-year-old Yang has faced ongoing speech and choking issues since infancy and remains undiagnosed, despite seeking care from multiple hospitals.
His mother expressed her frustrations, stating, “Year after year of delays… If we don’t get answers soon, he will be in his twenties soon. It’s unbearable. As long as he can speak, I’ll be at ease. He understands so much but can’t express it—this is urgent.”
Another infant, Xiao Ye, who is just over 40 days old, shows symptoms suggestive of albinism, yet a precise diagnosis remains elusive, requiring genetic testing in larger cities before any treatment can commence.
Xue Jingjie, Secretary-General of the China Birth Defects Intervention and Rescue Foundation, pointed out that many cases cannot be resolved within a single department or hospital. Families are often forced to move between multiple facilities, sometimes across different regions, delaying essential treatment during critical developmental periods.
The complexity of birth defects contributes to their status as leading causes of infant mortality and congenital disabilities. The involvement of multiple body systems and organs leads to intricate clinical manifestations and often unclear pathogenic mechanisms. This complexity, especially with rare inherited metabolic diseases, increases the potential for misdiagnosis and missed diagnoses.
Shen Haiping acknowledged that there is still an imbalance in preventive and control capacities across various regions. While the coverage for marriage, prenatal, pregnancy, and newborn services is generally high nationwide, the quality of these services still needs improvement.
Experts recommend a multi-disciplinary approach to tackle the diagnostic challenges associated with birth defects. Given the variety and low incidence of these diseases, strengthening primary care and establishing collaborative diagnostic frameworks are essential for overcoming these hurdles.
Take, for example, 14-year-old Meng Yao from Ningxia, who suffered from multiple symptoms like fainting and convulsions between the ages of 2 and 12. Her condition remained a mystery until a serious episode prompted her father to take her to a newly established regional healthcare center. Following expert consultations from Beijing, she was finally diagnosed with two rare congenital genetic disorders—central hypoventilation syndrome and neurofibromatosis—marking a breakthrough in her case in China.
Patient Cui Meng Yao shared, “I’ve made many friends, my memory has improved, and I don’t feel so drowsy anymore. I often play badminton, jump rope, and play foot shuttlecock with friends.”
Thanks to improved access to quality medical resources in central and western regions, Meng Yao received the care she needed locally. Experts are advocating for the creation of shared platforms for complex birth defect cases and multi-disciplinary treatment centers to better serve affected children.
Xue Jingjie emphasized the need for the gradual establishment of diagnosis and treatment centers across the country to break down silos between departments and hospitals. Implementing models that incorporate data sharing and the use of artificial intelligence and telemedicine could significantly alleviate foundational issues facing these families.
Li Wei, Director of the Genetic and Birth Defects Prevention Center at the National Children’s Medical Center, underscored the necessity of making advanced screening technologies reachable through subsidies or special assistance to improve community coverage effectively.
Furthermore, the inadequate diagnostic skills of primary care hospitals and physicians often complicate the referral process to specialized care facilities, highlighting the urgent need for robust training programs for grassroots medical staff.
Gao Zhigang, Deputy Director of the Zhejiang University Affiliated Children’s Hospital, suggested that primary healthcare institutions should receive more support, with dedicated pediatricians or surgeons focusing on identifying unusual cases to ensure timely referrals.
Hou Xinlin, Executive Director of the Ningxia Women and Children’s Hospital, remarked on the value of mentorship programs through regional medical centers to enhance local practitioners’ expertise in disease management, ultimately enabling patients to receive care closer to home.
