‘Unsolved Mysteries’ of Birth Defects Unraveled

  Experts said that there are many reasons for birth defects, which may be caused by genetic factors such as chromosomal aberrations and gene mutations, or environmental factors, or the interaction of two factors, or even other unknown reasons. Reducing birth defects is by no means a simple “one-stop”.
  September 12 is the 18th “China Birth Defect Prevention Day”. my country is a country with a high incidence of birth defects. According to the “China Birth Defect Prevention and Control Report” statistics, at present, the incidence of birth defects in my country is about 5.6%, and the number of new birth defects is about 900,000 every year. For families with birth defects, what kind of pain do they bear, and what kind of unspeakable hidden? Under the comprehensive liberalization of the three-child policy, how to scientifically understand birth defects and do a good job in prevention and treatment?
  ”The family has been healthy for generations, how can they have children with problems?”
  Yumin (pseudonym) from rural western Henan already has two children, but this is the knot she can’t sleep all night.
  A few years ago, Yumin’s first child was born, a girl. But as the child grew up, the couple found that their daughter was obviously different from other children, “small in stature, soft and unable to speak.” They took the child to the local hospital to see many doctors, but they couldn’t figure out the reason.
  When she was pregnant with her second child, Yumin was careful everywhere, and she never missed the birth check. But unfortunately, the second child, like his sister, has obvious developmental delay and intellectual disability again.
  Having given birth to two “silly” children in succession, the couple felt that they couldn’t raise their heads in the village, and they struggled and wondered all day: “The family is strong and able to bear hardships for several generations, how can they have children with problems?” They looked for Feng Shui experts. Visit the family’s ancestral graves, and even find fortune-tellers to count their past and present lives, trying to seek psychological comfort.
  Birth defects: The common “enemy”
  on the road to seeking a child In the clinic of Liao Shixiu, director of the Institute of Medical Genetics of Henan Provincial People’s Hospital, dozens or even hundreds of such “rare” cases can be encountered every year.
  ”In fact, what everyone is facing is a common ‘enemy’ – birth defects.” Liao Shixiu said that birth defects refer to abnormalities in the body structure, function or metabolism that occur before the baby is born, which can lead to early miscarriage, stillbirth, infant death and congenital leading cause of disability.
  In fact, China has established a “three-level prevention system for birth defects”: in the pre-pregnancy stage, primary prevention is mainly through pre-marital health care, pre-pregnancy eugenic health examinations, health education, genetic counseling and other measures to guide the masses to scientifically prepare for pregnancy and prevent birth defects. occur; secondary prevention during pregnancy includes not only prenatal screening such as ultrasound examination and serological examination, but also prenatal diagnosis such as chorionic villus puncture and amniocentesis, which can more targetedly detect Down’s syndrome, 18-3 Serious fetal congenital malformations such as body syndrome, reduce the occurrence of birth defects; tertiary prevention In the postpartum stage, newborns should be screened for phenylketonuria, congenital hypothyroidism and hearing, early diagnosis and early treatment, Avoid or reduce disability. The three lines of defense are like three layers of filters, which are filtered out layer by layer, which can reduce the incidence of birth defects as much as possible.
  However, preventing and treating birth defects is far from simple as the outside world thinks. In actual work, the state of patients is often complex and changeable, not simply static in various prevention levels. Experts said that there are many reasons for birth defects, which may be caused by genetic factors such as chromosomal aberrations and gene mutations, or environmental factors, or the interaction of two factors, or even other unknown reasons. Reducing birth defects is by no means a simple “one-size-fits-all” approach, and requires doctors to consider the overall situation and provide more forward-looking guidance.
  Identifying the cause of birth defects is not easy. It is understood that just one habitual abortion, subdivided into both husband and wife, has 11 major causes. Therefore, in the consultation of husband and wife, it is necessary to ask about occupation, living habits, and family genetic medical history. Doctors need to screen out the most suspicious pathogenic factors from the vast sea of ​​information.
  Liao Shixiu compares this process to “exploring a case”: “According to the information provided by the patient, follow the clues, peel the cocoon little by little, and use the detection and analysis of blood, fluff, amniotic fluid, umbilical cord blood and other substances to interpret the transmission of life. The mysteries of context and genetics, so as to find the cause, make an accurate diagnosis, and then make a targeted diagnosis to help the couple who asks to increase the chance of having a healthy baby in the next pregnancy.”
  Through genetic sequencing and data analysis of Yumin’s family, it was found that Yumin’s two children suffered from “Cohen syndrome”, which is a rare genetic disease. The disease-causing gene that caused the two children, one mutation point from the father and the other mutation point from the mother, eventually led to a series of symptoms such as growth retardation, hypotonia, and mental retardation in the two children. After scientific and accurate pregnancy preparation guidance, Yumin became pregnant again. More than two months later, she performed a prenatal genetic diagnosis by villous puncture under the advice of a doctor. The results showed that the fetus did not carry the disease-causing gene locus. After strict monitoring throughout the pregnancy, Yumin gave birth to a healthy baby boy. The child is now 2 years old, and his motor and intellectual development is normal.
  Emphasis on prevention and control, so that the future without “trapping” is more promising. Working
  in the genetics and eugenics for decades, Liao Shixiu has seen too many misfortunes suffered by families with birth defects. But fortunately, Henan has included birth defect prevention-related projects into the provincial government’s key livelihood issues for several consecutive years. Today, the three-level prevention system for birth defects is supported by free government programs, and the prevention system is becoming more and more perfect. It is gratifying to the experts that with the progress of society and the change of attitudes, more and more couples take the initiative to seek help in the genetic and eugenics clinic.
  Liao Shixiu said: “At the critical stage of secondary prevention, most serious congenital malformations can be screened, which has far-reaching significance in reducing the incidence of birth defects. Judging from the current birth volume in our province, prenatal diagnosis is required for There are about 80,000 to 100,000 high-risk groups.”
  Liao Shixiu reminded the public to conceive at an appropriate age and prepare for pregnancy scientifically. Generally speaking, 22 to 28 years old is a good time for women to give birth, and the probability of abnormal conditions will increase significantly for women over 35 years old. Therefore, women should take the initiative to conduct eugenic counseling and physical condition assessment, and also avoid harmful factors in the living environment, such as radiation, second-hand smoke, etc.