How to prevent and treat birth defects

  This year is the 20th anniversary of the implementation of the Law of the People’s Republic of China on Maternal and Infant Health Care, and September 12 is the 11th “China Birth Defect Prevention Day”. According to the “China Birth Defect Prevention Report” published by the former Ministry of Health in 2012, the total incidence of birth defects in China is about 5.6%, and the annual number of births in the country is 16 million. Each year, there are about 900,000 new cases of birth defects.  For the increasing rate of birth defects, frankly speaking, the lack of scientific knowledge of eugenics, the lack of awareness of eugenic health care, unhealthy lifestyle, pre-conception health check and pregnancy health care is not paid attention to and effectively implemented, environmental pollution and occupational hazards that undermine the health of the couple to be pregnant are important factors that cannot be ignored. In addition, it is also related to the enhanced level of medical diagnosis and increased detection rate of birth defects.  To reduce the occurrence of birth defects, the World Health Organization (WHO) has proposed a three-tier prevention strategy for birth defects: primary prevention refers to comprehensive interventions in the preconception and early pregnancy (also known as periconceptional period) stages through health education, premarital medical examination, preconception care, genetic counseling, family planning, optimal childbearing age selection, folic acid supplementation, and early pregnancy care. Secondary prevention refers to reducing the birth of children with severe birth defects, mainly through early detection, early diagnosis, and early measures during pregnancy to reduce the birth of children with severe birth defects. Tertiary prevention is the early screening and diagnosis of neonatal diseases and timely treatment to avoid or reduce the occurrence of various disabilities and improve the quality of life of patients.  ”The birth of a healthy baby is full of complexity and unpredictability. Of the three levels of prevention, primary prevention is the most active, proactive, effective, economical, painless and important. Secondary and tertiary prevention, on the other hand, are relatively passive and the last line of defense against birth defects.” Handan Maternal and Child Health Hospital’s prenatal diagnosis, relying on the hospital’s genetic counseling clinic, perinatal health clinic, prenatal ultrasound screening and genetic testing laboratory, is not only well equipped to undertake such tasks as prenatal diagnosis and consultation of difficult cases, but has also made outstanding achievements in reducing the birth defect rate. Multidisciplinary experts with high precision hardware only for accurate screening and diagnosis Prenatal diagnosis, also known as intrauterine diagnosis or pre-birth diagnosis, refers to the application of various advanced detection means, such as imaging, biochemistry, cytogenetics and molecular biology, before the birth of a fetus, to understand the growth and development of the fetus in the womb, to make a diagnosis of congenital and genetic diseases, and to create conditions for fetal treatment and selective abortion.  The Prenatal Diagnostic Center carries out prenatal screening and diagnosis of high-risk pregnant women in the city by means of ultrasound imaging, prenatal maternal serological screening, amniotic fluid cell chromosome analysis, and fetal cord blood chromosome analysis. In particular, we are the first to carry out systematic ultrasound screening in mid-pregnancy in certain areas; we have been conducting prenatal ultrasound consultation and diagnosis for difficult referral cases with abnormal prenatal ultrasound examination in neighboring areas throughout the year, and have detected various types of abnormal fetuses.  Although prenatal diagnosis is a new discipline, it is developing very rapidly. In particular, the development of ultrasound, cytology and genetics has provided powerful assistance for prenatal diagnosis.  Although the means and methods of screening and diagnosis are becoming more and more sophisticated, it does not mean that all fetal defects can be completely detected by the available means. For example, ultrasound examination is affected by many factors such as gestational week, amniotic fluid, fetal position, maternal abdominal wall, etc. Many organs may not be displayed or may not show well. The prenatal ultrasound detection rate of fetal anomalies such as atrial septal defect, ventricular septal defect, ear anomaly, finger/toe anomaly, anal atresia, esophageal atresia, external genital anomaly, and non-severe open spina bifida is still extremely low; routine chromosomal examination is currently unable to diagnose intrauterine fetal developmental anomalies caused by minor structural changes in chromosomes, monogenic genetic disorders, polygenic genetic disorders, environment, and drugs …… In order to minimize the birth defect rate and help more young parents to have healthy babies, the Prenatal Diagnostic Center invites relevant experts to start inter-hospital collaborative medical treatment according to the specific condition of the abnormalities found through prenatal screening and prenatal diagnosis technology and proposes consultation, through multi-disciplinary and multi-angle joint consultation. Through multi-disciplinary and multi-faceted joint consultations, children can receive more comprehensive medical opinions from prenatal to postnatal, which is also more conducive to timely and effective early intervention and postnatal treatment of children.  There is no perfect person, so love is needed. The decision is in the hands of the parents. The birth of a child with a defect will undoubtedly bring a huge emotional and material burden to the family and become a problem for society. “Our daily work is like walking on thin ice, because every glance we take may be about whether a life can be born or not.” For every doctor in the Prenatal Diagnostic Center, the greatest pressure comes not from the heavy workload day in and day out, but from the intense, even paranoid, questioning of prospective parents every day. On the one hand, they cannot accept the limitations of medicine and believe that a healthy child should be obtained after prenatal screening, without understanding that the parents-to-be are the most important determinants of their baby’s health and that it is unrealistic to expect only medical tests to guarantee the health of the fetus. On the other hand, during prenatal screening and diagnosis, some parents-to-be demand that the fetus must be “perfect” and that it is totally unacceptable if the fetus shows some disease that does not affect the body’s function or can be treated later in life. “As mothers, we understand their desire for a completely healthy baby, but as doctors, we know that there are always limitations in medicine, both in terms of unavoidable risks and opportunities for breakthroughs.” Torn, almost all the experts in the prenatal diagnosis center. In their opinion, the professionalism of doctors is best reflected in the Prenatal Diagnostic Center, which is to provide all the help they can and to respect all the choices of the parents-to-be.  We understand the acceptance or abandonment of life, we call for social inclusion and help, we desire more benefits and security, and we need to give and receive more love, because we know that every life needs to be respected, because at one level, we are, like, not perfect.