Birth defects and fetal-neonatal surgical evaluation and treatment “Birth defects”, also commonly referred to as “congenital malformations”, are structural, functional or metabolic abnormalities that occur before the baby is born. Birth defects can be caused by genetic factors such as chromosomal aberrations, genetic mutations or environmental factors, or by the interaction of these two factors or other unknown causes, and usually include congenital malformations, chromosomal abnormalities, inherited metabolic diseases, functional abnormalities such as blindness, deafness and mental retardation. China is a country with a large population and a high prevalence of birth defects. According to the “China Birth Defects Prevention and Control Report (2012)” released by the Ministry of Health in September 2012, it is estimated that the current incidence of birth defects in China is around 5.6%, with about 900,000 new cases of birth defects each year, of which about 250,000 cases are clinically evident at birth. According to the World Health Organization estimates, the global incidence of birth defects is 6.42% in low-income countries, 5.57% in middle-income countries, and 4.72% in high-income countries. Birth defects are a major cause of early miscarriage, stillbirth, perinatal death, infant and child mortality and congenital disability, which not only seriously endanger the survival and quality of life of children and affect the happiness and harmony of families, but also cause a huge potential loss of life expectancy and socioeconomic burden. Birth defects have become a public health problem that affects the quality of the population and the health level of the group, and if appropriate interventions are not taken in a timely manner, birth defects will seriously limit the further decline of infant mortality and the increase of life expectancy per capita in China. According to statistics in the past 20 years, due to environmental pollution and genetic variation factors, the incidence of newborns born with defects has a gradually increasing trend. Common defects include: anencephalus, hydrocephalus, open spina bifida, meningocele, cleft lip, cleft palate, congenital heart disease, congenital heart disease, heartdisease, and 21-year olds. heartdisease), trisomy 21 (21-trisomv s). Common birth defects Mid-pregnancy ultrasound imaging can be increasingly accurate for abnormalities in fetal structures. Prenatal ultrasonography reveals the following abnormalities such as abnormal amniotic fluid volume (too much, too little); intrauterine growth retardation; fetal edema; head and facial anomalies; neural tube anomalies; digestive tract anomalies; and urinary tract anomalies are all part of the fetal evaluation, and the results are an important guide to the management of the pregnancy. (i) Central nervous system: hydrocephalus, cerebrospinal bulge, spina bifida, etc. (ii) Head, face and neck: cleft lip, cleft palate, lymphangiectasia, etc. (iii) Thorax: congenital diaphragmatic hernia, congenital cystic adenomatoid malformation of the lung, pulmonary isolation, fetal hydrothorax, congenital larynx, tracheal atresia/stenosis and congenital esophageal atresia (iv) Gastrointestinal malformation: abdominal wall defect, congenital diaphragmatic hernia, intestinal atresia, umbilical bulge. (v) Urinary system: hydronephrosis, vesicoureteral reflux, giant ureter, and renal cystic degeneration. (vi) Extremities: polydactyly, syndactyly, limb agenesis, or ring cord compression. (vii) Tumors: In addition to giant lymphangiectasia of the neck, the most common is sacrococcygeal teratoma, followed by ovarian tumors and tumors of the abdomen and chest. Causes of birth defects At present, the specific causes of most birth defects we still do not know exactly, but we already know that many factors can lead to the occurrence of birth defects, including environmental factors account for about 10%, genetic factors account for about 25%, environmental factors interact with genetic factors and unknown causes account for about 65%. The common causes of birth defects are: (a) their own factors 1, their own genetic factors either parent has genetic factors may affect the fetus. For example, the birth experience of neural tube deformity of such parents again pregnant, then the proportion of congenital neural tube deformity occurred than the normal population is three times higher. 2, maternal factors The most common are rubella, influenza and other viral infections and toxoplasma infection during pregnancy, or pregnancy-associated diseases, such as syphilis, AIDS, cytomegalovirus, etc. If the mother suffers from infectious diseases during pregnancy, the pathogens can infect the fetus through the placenta, causing fetal dysplasia and malformation, or causing miscarriage and stillbirth. In addition, due to infection, high fever, shock and hypoxia of the mother can also cause fetal malformation. Mothers with diabetes may cause stillbirth and high rate of stillbirth; high rate of malformations including heart, neural tube defects, gastrointestinal and skeletal malformations; giant babies; and neonatal hypoglycemia. In contrast, mothers with hyperthyroidism may have temporary or persistent hyperthyroidism in the newborn. The former has a good prognosis, while the latter presents with premature bone age, small head size, mental retardation, and short stature and has a poor prognosis. In addition, the early fetal period is the most susceptible to teratogenic effects, especially to drugs, during the early developmental stage (3-4 days after fertilization to the 9th week of gestation), especially the 6-9 weeks are the most sensitive, so this is the period of fetal organ formation. The mother’s infection or improper use of drugs may cause birth defects. 3, lack of micronutrient supplementation during pregnancy, such as folic acid, B vitamins and over-nutrition or nutritional deficiency. (B) environmental factors 1, radiation, noise, high temperature and low temperature 2, chemical pollution, food pollution teratogenic. Mainly from the atmosphere, soil, water, a variety of chemical pollution, drugs, food additives, condiments, cosmetics, including mercury, lead, mercuric chloride, PCBs, pesticides and floating dust containing carbon monoxide, nitrogen oxides and other harmful substances and other direct contact and indirect environmental pollution, but also including the lack of certain trace elements in the human body, such as zinc, selenium, copper, manganese, iodine, etc.. For modern women, the possible adverse effects on the development of fetal deformities may be the arsenic, lead, mercury and other toxic substances contained in cosmetics, these substances are absorbed by the skin and mucous membranes of pregnant women, can pass through the blood-fetal barrier, into the fetal blood circulation, affecting the normal development of the fetus. 3, smoking and drinking and other bad habits influence. Including the pollution of second-hand smoke, as well as drug use, soft drugs have a direct impact. Prenatal diagnosis Commonly used diagnostic techniques are: ① B ultrasound examination: it can check not only the structural malformation of the fetus, but also the developmental malformation of internal organs, which is one of the most widely used examination methods, and the examination time is usually 18-22 weeks of pregnancy. ② Amniotic fluid examination (16 weeks of gestation is appropriate): cell culture, AFP measurement and enzymatic examination are used to diagnose genetic diseases and some malformations; mainly for the detection of major chromosomal genetic abnormalities. MRI: With the development of MRI technology and its advantages of no radioactive damage, multi-sectional imaging, wide field of view and good soft tissue contrast resolution, MRI is increasingly becoming an important supplement to ultrasound diagnosis, with a radiofrequency wavelength of several meters and an energy of only 10-7ev, 1/1010 of CT, which is safer for the fetus. MRI can suggest more details of congenital structural malformations of the fetus, and MRI can make up for the shortage of ultrasound diagnosis in the diagnosis of fetal chest malformations, especially for atypical lesions or combined multiple complex malformations. Prenatal MRI can provide stereoscopic, homogeneous images, while clearly showing the blood supply. It can better predict the outcome of the fetus after birth. It helps in the comprehensive prenatal evaluation of the fetus and the development of a treatment plan after delivery. Therefore, prenatal MRI is more effective than ultrasound. The advantages of prenatal fetal surgical evaluation: With prenatal diagnosis, the fetal parents will have a full psychological preparation, and the diagnosis and treatment of neonatal surgical diseases will have a good premise and treatment basis. When the fetus is born and after the birth, there will be targeted prevention of complications, and the diagnosis and treatment after birth will be implemented gradually according to the plan, so that the diagnosis and treatment of neonatal surgical diseases are no longer the passive situation in the past, and the diagnosis and cure rate of neonatal surgical diseases will be improved. It is recommended that prenatal diagnosis should be carried out for those who have one of the following conditions: senior pregnant women over 35 years of age; those who have given birth to deformed or congenital stupid children and other first-degree diseases; those who have a genetic or chromosomal disease in one of the spouses; those who have a bad maternal history such as habitual abortion, premature birth, stillbirth, neonatal death, etc.; those who have been exposed to large doses of radiation or viral infection in early pregnancy or have taken drugs with teratogenic side effects for a longer period of time.