According to statistics, a defective child is born every 30 seconds in China. Are defects "predestined"? Is there any way to prevent and intervene?

Birth defects can actually be prevented and treated, not doomed.

Generally speaking, birth defects refer to structural, functional or metabolic abnormalities of infants before birth, but do not include birth injuries. Some anomalies can appear at birth, while others will appear gradually after birth.

Birth defects are mainly caused by genetic factors, environmental factors and their interaction. At present, the most common diseases with serious harm, relatively high incidence rate and obvious prevention and treatment effect mainly include Down syndrome (2 1- trisomy syndrome), severe structural malformation (anencephaly, severe encephalocele, severe open spina bifida, severe chest and abdomen wall defect and visceral eversion, single-chamber heart and fatal chondrodysplasia) and neonatal hereditary metabolic disease (congenital hypothyroidism).

First of all, defects are not "destiny takes a hand" but can be prevented: three-level prevention and control of birth defects.

Primary prevention: prevent the occurrence of birth defects. (before pregnancy)

The occurrence of birth defects can be reduced through scientific education, eugenics examination and consultation before marriage and pregnancy.

This level of prevention is equivalent to the preliminary screening of seeds before sowing to ensure the quality of seeds.

Specific measures include health education, pre-marital medical examination, pre-pregnancy health care, genetic counseling, family planning, choosing the best childbearing age, supplementing folic acid, and early pregnancy health care (including reasonable nutrition, preventing infection, using drugs carefully, quitting smoking and drinking, avoiding exposure to radiation and toxic and harmful substances, and avoiding high temperature environment).

Secondary prevention: reduce the birth of children with birth defects. be pregnant

Through prenatal screening and prenatal diagnosis during pregnancy, defective fetuses can be found and intervened early, and the birth rate of fatal and disabled babies can be reduced.

This level of prevention is equivalent to screening out bad seedlings that have taken root and sprouted.

Take medical measures, including perinatal health care, prenatal screening (thalassemia gene detection, serological Down's screening, fetal chromosome aneuploidy (T21\ t18 \ t13) detection, level II ultrasound and so on. ), prenatal diagnosis (villus biopsy, amniocentesis, umbilical vein puncture, grade III /IV.

Secondary prevention can not reduce the occurrence of birth defects, but can only reduce the birth of children with birth defects, which is a supplement to primary prevention, but it still cannot guarantee that all birth defects can be found.

Tertiary prevention: avoid disability and reduce the burden of disease. (after birth)

Screening for neonatal diseases, finding suspected defects through screening and physical examination, and carrying out targeted re-screening, diagnosis and rehabilitation treatment, so as to realize early diagnosis and treatment, minimize the disability rate and enable children to return to normal life as soon as possible. At the same time, it is necessary to take the baby to the designated institution for health examination on time, so as to find out major body surface deformities and organ deformities in time. When problems are found, we must actively cooperate with doctors for further diagnosis and treatment.

2. What should parents keep in mind to prevent birth defects?

1, consanguineous marriage is prohibited.

Innate marriage refers to the marriage between lineal blood relatives and collateral blood relatives within three generations. The closer the blood relationship, the higher the risk of hereditary diseases.

2. Accept premarital examination

So that both men and women have the opportunity to know each other's health, know what diseases they have, and have a clear history of transmission. And avoid genetic diseases from being passed on to future generations.

At the same time, candidates can be educated on sexual knowledge, arranged after marriage and instructed on contraceptive methods. Doing so is conducive to the harmonious marriage of husband and wife, the establishment of a happy family and the health of future generations.

Step 3 choose the best childbearing age

A large number of studies at home and abroad show that the period of vigorous vitality of young men and women is 25 ~ 29 years old. It is generally believed that this is the best age for childbirth.

Premature birth, women's whole body organs, especially reproductive organs and pelvis, are still in the development stage and not yet fully mature. The extra burden of pregnancy and childbirth is not good for the health of both mother and child, and it is likely to be difficult to give birth or cause some complications and sequelae.

If the child is born too late and over 35 years old, there will be some complications during pregnancy and delivery, such as uterine inertia, prolonged labor, abnormal birth canal and postpartum hemorrhage.

4. Avoid pregnancy during the onset.

During the onset of acute infectious diseases, if one of the important organs of both men and women is dysfunctional or active (such as severe heart, lung, liver and kidney diseases and tuberculosis), pregnancy should be postponed, especially if the woman is pregnant, which may increase the risk of congenital genetic diseases in pregnancy and the baby.

5, accept pregnancy examination

Some people who look very healthy are actually carriers of disease-causing genes. If both men and women happen to be carriers of disease-causing genes, then the chances of offspring getting sick will be great.

Because of atavism or sporadic genetic diseases, men and women are often only carriers of pathogenic genes. This situation can only be determined by professional doctors through family history investigation and genealogy analysis.

Therefore, it is suggested that all pregnant women do their part to ensure the health of their offspring and take the initiative to have pre-pregnancy examinations.

6. Do a good job in pregnancy care

Maintaining physical and mental health and paying attention to life conditioning can not only help pregnant women to get through pregnancy and childbirth smoothly, but also create a good environment for fetal growth and development.

Therefore, during pregnancy, we should strengthen nutrition, combine work and rest, pay attention to personal hygiene, keep a happy mood and control sexual life. And regular prenatal check-ups.

7. Do a good job in neonatal health care after birth.

Newborns should be screened for phenylketonuria, congenital hypothyroidism and hearing impairment in time after birth, and receive regular child health care from 0 to 6 years old to monitor their growth and development.

Third, several factors that easily lead to birth defects.

1 genetic factors

Abnormal inheritance of parents or mutation of germ cells may lead to birth defects. Including gene mutation and diseases caused by abnormal chromosome number and structure.

2. Maternal nutritional factors

Nutritional imbalance during pregnancy will increase the risk of birth defects and affect the development of fetal organs and systems. For example, folic acid deficiency during pregnancy is a high risk factor for neural tube defects, and iodine deficiency during pregnancy is a high risk factor for mental retardation in children.

3. Parental factors

Bad life behaviors (smoking, drinking, taking drugs, etc. ), exposure (rubella virus, cytomegalovirus, Toxoplasma gondii and other pathogens), pregnancy diseases (gestational diabetes, etc.). ), irrational drug use (psychotropic drugs, hormones), contact with poisons (formaldehyde, lead, mercury, etc.). ) and radioactive substances can significantly increase the risk of birth defects.