Birth defect is the main cause of early abortion, stillbirth, perinatal death, infant death and congenital disability, which not only seriously endangers children's survival and quality of life, affects family happiness and harmony, but also causes huge potential loss of life and social and economic burden.
The difference between birth defects and congenital malformations Birth defects usually include congenital malformations.
Birth defects with different meanings: refers to the abnormal development of the baby in the mother's womb, and the abnormalities in some parts of the body before birth. Birth defects include morphological abnormalities, functional abnormalities, congenital mental retardation and metabolic abnormalities. Congenital malformation: refers to diseases such as abnormal appearance and structure, dysfunction, abnormal metabolism, mental retardation, etc. at birth or after birth. Birth defects of different reasons can be caused by genetic factors such as chromosome aberration and gene mutation or environmental factors, or by the interaction of these two factors or other unknown reasons: they come from two aspects: one is the disease and injury of the embryo in the mother's womb, the other is the disease and injury of the fetus in the birth canal during delivery; Some congenital malformations are caused by genetic internal factors, which is genetic disease. Harm of birth defects Because the cost of post-treatment for children with birth defects is often very expensive, the huge burden brought to families and society is unbearable for many families; Besides the financial burden, there are more psychological and spiritual burdens. Birth defects not only seriously endanger children's survival and quality of life, affect family happiness and harmony, but also cause huge potential loss of life and social and economic burden.
Birth defects have become a public health problem that affects the quality and health level of the population. If proper intervention measures are not taken, birth defects will seriously restrict the further decline of infant mortality rate and the improvement of life expectancy per capita in China.
Birth defect is the main cause of perinatal death and infant death in the world, which leads to a large number of children's illness or disability, affects the quality of the population and brings a heavy economic and spiritual burden to society and families. It is the most concerned health problem in all countries and has become a social problem that affects economic development and people's normal life.
Families of high-risk population of birth defects with one spouse suffering from chromosome diseases or genetic diseases; There are members with hereditary diseases in the family; Older women over 35 years old; Families that have given birth to children with mental retardation or congenital malformation; Personnel engaged in occupations that require frequent contact with radioactivity, ionizing radiation and toxic and harmful chemicals; Women with unexplained abortion or stillbirth. The types of birth defects include anencephaly, encephalocele, spina bifida, congenital hydrocephalus, microcephaly and cerebral palsy. Treatment: Once the fetus is diagnosed with nervous system malformation, the pregnancy should be terminated immediately; Asymptomatic recessive spina bifida does not need treatment; For pregnant women with high risk factors, prenatal genetic counseling and necessary prenatal diagnosis should be strengthened to prevent serious birth defects. Malformations of head organs include congenital cataract, microphthalmia, microtia, accessory ear and ear cavity malformation and micrognathia. Treatment: if the skull suture is closed too early or too late and abnormal, it will cause a series of clinical manifestations such as pointed skull or navicular skull; Further examination is needed, and termination of pregnancy is recommended if the situation is serious. Abdominal wall defects and hernias include gastroschisis, omphalocele, bladder eversion, diaphragmatic hernia, umbilical hernia and indirect inguinal hernia. Treatment: Except congenital umbilical hernia within one year old, all patients need treatment, mainly surgery, which is the only effective way to cure most abdominal hernia. Gastrointestinal malformations include cleft palate, cleft lip, esophageal atresia, stenosis and esophagotracheal fistula, congenital hypertrophic pyloric stenosis, congenital intestinal atresia and congenital intestinal stenosis, congenital megacolon, rectal or anal atresia. Treatment: At present, most congenital digestive system malformations can be well treated by surgery with good prognosis. Laparoscopic surgery can minimize surgical trauma, recover quickly after surgery, and the scar is not obvious. Congenital heart disease includes atrial septal defect, ventricular septal defect, patent ductus arteriosus, tetralogy of Fallot, complete transposition of great arteries and pulmonary artery stenosis. Management: Severe congenital heart disease, such as complete transposition of great arteries or hypoplastic left heart syndrome, must be operated immediately after birth, otherwise the child will not survive. Urogenital malformations include hypospadias, congenital renal cysts, cryptorchidism and hermaphroditism of external genitalia. Treatment: Many malformations of urogenital system need surgical treatment to rebuild and restore normal urination function, but non-surgical drug treatment also plays an important role. Limb deformities include: foot deformation, polydactyly, syndactyly, limb shortening and congenital dislocation of hip joint. Treatment: If the fetal limb deformity is serious, you can also consider induced labor, but you should communicate with your doctor or family in advance. Skin malformations include hemangioma and pigmented nevus. Treatment: hemangioma will continue to grow if it is not cured in time, so it is necessary to prevent collision, otherwise it will cause hemangioma rupture and massive bleeding. Hereditary metabolic diseases and multiple malformations include: 2 1- trisomy syndrome, phenylketonuria, glycogen storage disease and chondrodystrophy. Treatment: Most clinical hereditary metabolic diseases are mainly diet therapy, and some patients can be treated with vitamins and coenzyme. After the treatment of the causes and symptoms, the disease can be well controlled. Why birth defects, their own factors, their own genetic factors, any parents with genetic factors may affect the fetus. For example, if parents who were born with neural tube defects are pregnant again, the proportion of congenital neural tube defects is three times higher than that of normal people. The most common maternal factors are rubella, influenza and other virus infections and Toxoplasma infection during pregnancy, or pregnancy-related diseases, such as syphilis, AIDS, cytomegalovirus and so on. Nutritional factors: lack of trace elements during pregnancy, such as folic acid, B vitamins and overnutrition or malnutrition. Environmental factors: radiation, noise, high temperature and low temperature. Maigu Bian Xiao learned that chemical pollution and food pollution can also lead to fetal birth defects. Bad habits such as smoking and drinking, including the pollution of second-hand smoke, as well as drug abuse and soft drugs have a direct impact. How to prevent birth defects The prevention strategy of primary prevention of birth defects: health education, eugenics examination and counseling before marriage, pregnancy and early pregnancy to prevent the occurrence of birth defects. Secondary prevention: prenatal screening and prenatal diagnosis are carried out during pregnancy to reduce the birth of fatal and severely disabled children. Three-level prevention: screening and diagnosis of neonatal congenital diseases, treatment and rehabilitation of children with birth defects, reducing children's disabilities and improving children's quality of life. Carry out health education on the prevention and treatment of birth defects, prohibit consanguineous marriage and reduce the risk of genetic diseases; Both men and women who are going to get married should take the initiative to accept pre-marital medical examination and other pre-marital health care services; Promote childbearing at school age and avoid pregnancy at an advanced age; Advocate planned pregnancy and reduce unintended pregnancy; Develop a healthy lifestyle and prepare for pregnancy scientifically; Raise awareness of self-protection and avoid contact with toxic and harmful substances; Couples who know how to plan pregnancy should receive pre-pregnancy eugenics health examination; Couples with a family history of genetic diseases or a history of poor pregnancy and childbirth should go to medical institutions to receive targeted counseling and guidance; Actively treat their own diseases and maintain good breeding conditions; Use drugs carefully during pregnancy, and use drugs rationally under the guidance of a doctor when necessary; Supplementing low dose folic acid to prevent fetal neural tube defects; Couples in areas with high incidence of thalassemia should be examined for thalassemia; During pregnancy, you should have a reasonable diet, balanced nutrition and keep your body growing moderately; Prenatal ultrasound screening should be carried out in the second trimester to find serious fetal structural abnormalities in time; Newborns should be screened for related diseases in time after birth. 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