What Is Aplasia Cutis Congenita?

Congenital diseases are those that occur from birth. During pregnancy, the mother is exposed to environmentally harmful factors, such as pesticides, organic solvents, heavy metals and other chemicals, or excessive exposure to various rays, or taking certain drugs, or contracting certain germs, and even some habits, such as sauna ( Steam bath) and eating habits can cause fetal congenital abnormalities, but it is not a genetic disease.

Congenital disease

Congenital diseases are those that occur from birth. During pregnancy, the mother is exposed to environmentally harmful factors, such as pesticides, organic solvents, heavy metals and other chemicals, or excessive exposure to various rays, or taking certain drugs, or contracting certain germs, and even some habits, such as sauna ( Steam bath) and eating habits can cause fetal congenital abnormalities, but it is not a genetic disease.

Congenital disease definition

If there are other people in the family who have had the same disease and are of similar age, it may be a genetic disease.

Congenital anomalies can also be found in women's lack of folic acid before and during pregnancy, which can cause spina bifida and an increased chance of birth of children with no brain. Hip delivery and pregnancy are too old, often resulting in congenital hip dislocation and mental retardation.

Some very rare genetic diseases often cannot be found in the families of both parents. So how do these diseases arise? Studies have shown that the genetic material in our body contains 100,000 pairs of genes, and each person has more or less a few bad genes. These bad genes are usually hidden. Only when the couple's bad genes happen to be paired with the same gene will the child develop the disease. Because this possibility is very small, the incidence of such recessive inherited diseases is only less than one in tens of thousands. If close relatives get married, the couple is likely to have the same bad genes, and the possibility of pairing these genes will increase tens of times, or even hundreds of times. Therefore, the more rare the genetic disease, the greater the proportion of children born to close relatives who marry. Although the Han nationality in our country forbids marriage with cousins with the same surname, the marriage of cousins and cousins of the opposite sex is not prevented. In fact, from the perspective of genetics, cousins and cousins have the same close relatives, and children after marriage may encounter various recessive genetic diseases.

Some parents said that although our husband and wife are in the same area, they have different surnames and are not close relatives within three generations, which fully complies with the provisions of the marriage law. Why do we still have defective children? This is because China used to be a relatively conservative society. In many areas, the population has rarely moved for thousands of years, and the radius of intermarriage is relatively small. Due to geographical isolation or due to ethnic, religious, and customary relationships, it is often the case in China's rural areas to marry a wife and not go home, or the same old ancestor hundreds of years ago. In this way, although people in a local area have different surnames, a large part of the genes in the body are the same, and the defects of these genes are easily overlapped and manifested in their children. In China, the incidence of genetic diseases such as mental retardation can reach up to 50%, all of which occur in remote ethnic minority groups.

Once the congenital disease appears, it will bring a serious burden to the family and society. Whether the child died or died, it will make the child and the family miserable. To avoid it, in addition to staying away from all kinds of harmful physical, chemical and biological harmful factors, you should also actively seek out marriage partners in distant people without any blood relationship.

For those families with birth defects, they should first go to a hospital with a genetic specialty to make an accurate diagnosis of the patient, cooperate with the doctor's inspection and sampling for timely treatment and eugenic consultation, and do not seek blind medical treatment. Do not risk having a second or third child until you have identified the cause and are ready for prenatal diagnosis. Not only that, but also to check whether all relatives carry the same bad genes as children, to avoid the recurrence of tragedy. If the same congenital disease occurs repeatedly in the home, or the miscarriage caused by it, it is recommended that the couple no longer give birth blindly, and a healthy child can be obtained through prenatal genetic diagnosis or adoption. In addition, many inborn metabolic diseases can be controlled and treated during fetal life or at birth. For example, ketonuria, galactosemia and other diseases, if the infant is given a special diet within one month after birth or during pregnancy, supplemented with drugs such as hormones, vitamins and special nutrition factors, many children can get Controlled without morbidity.

Congenital disease and genetic relationship

Congenital disease alcoholism

Alcoholism is familial, especially among women.

Congenital Diseases About Genetic Diseases

How does hereditary disease occur? If the father or mother has a defective gene (that is, she has a genetic disease), or because of internal or external reasons (radiation, certain drugs, etc.), the gene has been deleted or mutated during numerous replications , It also brings genetic diseases.

Are congenital diseases hereditary?

People often think of congenital diseases as genetic diseases. In fact, these are two completely different concepts.

Congenital diseases are acquired during the fetal period, that is, during the growth and development of the fetus in the womb, they are affected by external or internal adverse factors, causing the fetus to develop abnormally, and the disease has manifestations or signs at birth. Such as: deformities caused by rubella virus infection, congenital hip dislocation and so on.

Genetic disease refers to the abnormal development of the sperm or egg of the parents, which causes the qualitative or functional abnormality of the fetal generator. This disease can be manifested after birth, or it can be manifested after reaching a certain age after birth. For example: Mental illness can be inherited, and most of them do not start until adolescence.

One of the parents is a carrier of a balanced translocation chromosome. One-fourth of their children will have a miscarriage. One-fourth may be a translocation congenital type. One-quarter may be a carrier of the balanced chromosome. 4 A normal child may be born. If one of the couples is found to be a carrier of a balanced translocation chromosome by chromosome examination, consideration should be given to no longer giving birth or prenatal diagnosis after pregnancy to prevent the birth of the child.

Couples with a history of habitual abortion

Statistics tell us that women with habitual abortions are 12 times more likely to have chromosomal abnormalities than ordinary people. Any fetus with a chromosomal abnormality is prone to miscarriage, so couples with a history of habitual abortion should be vigilant, and both men and women must make a detailed physical examination and genetic counseling before the next pregnancy.

A mother who has given birth to a child with "congenital fool's type" has a 3% probability that the second child will be a child with "congenital fool's type". The mother of a child who has had an autosomal recessive metabolic disease (such as albinism, congenital deafness, dwarf, phenylketonuria, etc.), the incidence of the child when the child is born again is 25%.

Pregnant women with severe chain disease (such as hemophilia)

All male fetuses are children, and female fetuses are carriers of the disease gene. If pregnant women are carriers of the gene for sexually linked diseases, the risk of male fetuses is 50%.

Workers who are frequently exposed to radiation or chemicals

For parents who are at risk of having above-mentioned birth diseases and congenital malformed fetuses, genetic counseling and prenatal diagnosis must be done to fundamentally block the transmission of hereditary diseases.

Optimal surgical time for congenital diseases

Congenital diseases grasp the timing of surgery according to the condition

Chief physician of Cardiothoracic Surgery Shu Long: For children with congenital heart disease, there are several situations to grasp the timing of surgery. Under the premise that the child's growth and development are not greatly affected by the disease, children with open arterial ducts are usually operated at the age of 2-6 years; children with atrial septal defects are usually operated after 2-3 years. Suitable; for children with ventricular septal defect, if the symptoms are obvious, it is best to perform surgery at 1-3 years old. If the child is prone to recurrent lung infections or other complications due to congenital heart disease, which can affect their growth and development, and even life-threatening, the sooner the diagnosis is, the better. Now, with the continuous improvement of surgical methods and anesthesia techniques, cardiac surgery can also be performed in the neonatal period.

Congenital disease phimosis

5-6 years old is the best time for surgery. Dai Shixi, chief physician of urology: Phimosis is a common disease in children, because the foreskin is very small, and the foreskin bulges into a capsule when urinating. Sick children suffering from phimosis are prone to foreskin and penile cephalitis, and can have secondary urinary infections. Even symptoms of dysuria, long urination time, and thin urine lines appear. In severe cases, it is easy to cause urinary reflux and affect the function of the entire urinary system. The best time for phimosis surgery is 5-6 years, but it needs to be determined by the doctor according to the specific situation. If the child has serious complications, the operation should be advanced.

Congenital cleft lip

The best treatment is 3-10 months after birth. Zhou Qixing, chief physician of plastic surgery: Children with congenital cleft lip surgery usually perform the best correction surgery 3-10 months after birth. At this time the baby has adapted to the external environment, the local anatomy is clear and the elasticity is good, which provides favorable conditions for surgery. If you wait until the age of the surgery, the lip tissue begins to shrink, and the deformity is not easy to correct.

Congenital disease: short tongue band

It is best to have surgery before preschool age. Deputy Chief Physician Lei Zhiyun: The short tongue band is mainly caused by congenital dysplasia. If the tongue is too short, salivation and milk rejection are likely to occur, and when learning to speak, tongue rolling and tongue gurgling cannot be accurately issued. Generally, children's surgery is best done before school age, creating favorable conditions for language training.

Finally, it is worth reminding everyone that everything is not absolute. The above are just the optimal surgical treatment time for several common children with congenital diseases. It also needs to be determined by the doctors of regular hospitals based on the actual situation of each child Personalized treatment plan and the right time for surgery.

Congenital diseases prevent congenital diseases

Pre-marital check for congenital diseases

The first line of defense to prevent the birth of children with congenital deformities

Once most children with congenital malformations are born, they are usually incurable, so it is very important to prevent the birth of children. How to prevent it? Mainly through two links of pre-marital medical examination and prenatal diagnosis.

We are not unfamiliar with pre-marital examinations. This is a comprehensive and systematic health examination, which mainly includes comprehensive physical examinations, genetic health inquiries, and general knowledge about sexual life after marriage. Among them, genetic counseling and genetic testing are important contents.

The purpose of pre-marital genetic counseling is to find out whether both parties have a genetic history and other possible genetic diseases to determine whether men and women are suitable for marriage. For example, if one or both of them are demented or have not recovered from a mental illness, they are more likely to be passed on to the next generation. Although some patients with normal appearance may have abortions, stillbirths, deformities, deafness or other physical defects during birth ; Other cardiovascular diseases such as high blood pressure, heart disease, diabetes, and some hereditary cancers may be inherited. If there are similar diseases in the family, the offspring is more likely to suffer from this disease. Through consultation, both men and women can also learn valuable knowledge about pre- and pregnancy health care. For example, if you are too old, the risk of congenital mental retardation and other deformed children is greatly increased. You should not drink alcohol, smoke, fatigue, or medication before pregnancy. Avoid colds, direct sunlight, high temperature, and stay away from chemical harmful substances during pregnancy.

A genetic test is a blood analysis that identifies whether a woman or a woman has a genetic disease or carries a genetic gene that can make offspring sick. Below we illustrate this problem through a pre-marital genetic chromosome test.

Each normal human nucleus contains 23 pairs of chromosomes and carries all human genetic genes. The constant number and structure of 23 pairs of chromosomes is an important guarantee for normal human seeding. If abnormal, it can cause a variety of hereditary diseases. Some people with abnormal chromosomes have normal appearance without any abnormal feeling. We call these people carriers of chromosomal abnormalities, accounting for about 0.6% of the general population. Although these people do not have any disease manifestations, they will inherit abnormalities to their offspring during childbearing, causing abnormal embryo chromosomes and abnormal embryo growth and development. Some of the embryos with chromosomal abnormalities die clinically as spontaneous abortion or stillbirth; some embryos continue to develop and form fetuses and are born, and become genetically diseased babies. There are two cases of chromosomal abnormalities: Become a patient of hereditary diseases, such as stunted growth, physical deformity, mental retardation, female infertility, primary amenorrhea, male infertility, gender deformity, etc .; the other is as normal as his parents and becomes a carrier of abnormal chromosomes, but When you grow up, you will suffer the same pain as your parents. Carriers of chromosomal abnormalities usually have no disease manifestations and cannot be found without blood genetic chromosome analysis. They are often found after a spontaneous abortion during marriage and childbirth, and only when they are examined at the hospital. At that time, both husband and wife have suffered physical and mental illness. Great pain.

Prenatal diagnosis of congenital diseases

------ The last line of defense to prevent the birth of children with congenital diseases

For the happiness and health of the "Little Angel", the effective method is to vigorously carry out prenatal diagnosis. Prenatal diagnosis is also called prenatal diagnosis. It makes accurate judgments about whether the embryo or fetus has inherited congenital malformations before birth, treats the abnormal fetus with abortion, and prevents the birth of defective children, thereby ensuring the health of offspring. Prenatal diagnosis only has a history of more than 20 years, but it has developed rapidly. Methods include X-rays, fetal microscopy, ultrasound, biochemical and enzyme tests, and chromosome diagnosis. Ultrasound and chromosome tests are the most commonly used.

B-ultrasound is a painless and non-invasive method. It is the most widely used method. It can detect the external development of the fetus's face, limbs, spine, etc., and it can also directly observe the fetal heart and fetal movement, but it is not suitable for B-ultrasound. Too much, because ultrasound will more or less affect the hearing and other functions of the fetus. Generally, three ultrasounds of early, middle and late pregnancy are appropriate under normal circumstances.

Chromosome examination is a type of genetic diagnosis, mainly for fetal congenital chromosome disease. It can diagnose more than 100 kinds of chromosome diseases, including congenital foolishness, meow syndrome, and hermaphroditism, which cannot be done by B-ultrasound. Three methods of chromosome examination during pregnancy:

Early fetal villous tissue aspiration (8-11 weeks of gestation): Villus can be sampled through the cervix, preferably under B-mode surveillance. After treatment or short-term culture of villus branches, chromosome analysis can be performed. In addition, villous tissue can be tested for enzymes and proteins, or DNA can be directly extracted for gene analysis.

Amniocentesis in the mid-term (16-20 weeks of pregnancy): both amniotic fluid is sampled, and fetal exfoliated cells are present in the amniotic fluid. After in vitro culture, chromosome analysis, enzyme and protein detection, sexual chromatin examination, and DNA analysis can be performed. Thousands of diseases have been diagnosed and are currently widely used.

Umbilical cord puncture in the third trimester (after 27 weeks of pregnancy): Fetal venous blood is drawn from the mother's abdomen under the guidance of B-ultrasound. This technology has become far more popular in China than abroad, with a high success rate and relatively safe. Umbilical cord blood can be used for various chromosome or hematological examinations. It can also be used for diseases that can be detected with fetal plasma or blood cells due to failure of amniotic fluid cell culture and DNA analysis, or when missed villi and amniotic fluid sampling opportunities. In some cases, genetic analysis can be substituted. For example, alpha thalassemia can be directly measured HBarts; hemophilia can be directly measured coagulation factor IX and so on.

What conditions require a prenatal amniotic fluid test to diagnose those diseases?

The diagnosis of amniotic fluid is mainly to detect various fertility-related disorders and genetic disorders. It is suitable for expectant mothers who are over 35 years of age and 16 to 20 weeks pregnant. If you have a family history of genetic diseases or chromosomal abnormalities, or have had abnormal fetuses, or have a history of poor abortion, or abnormalities such as ultrasound scans, or are at high risk for Down's screening, your doctor will recommend an amniotic fluid diagnosis. Although some expectant mothers do not have the above-mentioned conditions, in order to eliminate concerns, they can also perform amniotic fluid diagnosis. It costs between 400 and 3000 yuan, and the amount varies depending on the number of testing items done.

Amniotic fluid examination plays a very important role in prenatal diagnosis and can diagnose thousands of diseases. To sum up, there are the following aspects.

1. Molecular level. Extract fetal DNA from amniotic fluid cells for direct or indirect analysis or detection of a specific gene. Such as the diagnosis of thalassemia, phenylketonuria, and progressive muscular dystrophy.

2. Cytogenetics level. Collecting amniotic fluid can be used for in vitro culture and genetic chromosome analysis. It is currently the most widely used diagnostic method. Amniotic fluid chromosomes have the following uses: (1), have diagnostic significance for more than 100 chromosomal abnormalities such as Down's syndrome, and hermaphroditism; (2), X-linked recessive genetic diseases such as hemophilia, red For fetuses with a family history of green blindness, pseudomass muscular dystrophy, etc., determine the sex of the fetus early, and the male fetus should terminate pregnancy; (3) Selective fertility for pregnant women with a family history of chromosomal genetic diseases.

3. Protein diagnostic level. Diagnose a disease by measuring specific proteins or proteases in amniotic fluid, such as alpha-fetoprotein and cholinesterase to diagnose fetal neural tube defects, umbilical bulge, anencephaly, stillbirth, congenital esophageal atresia, duodenum Atresia, congenital nephrotic syndrome, severe Rh blood group incompatibility pregnancy, etc .; measurement of aminohexidase A activity to diagnose scotopic family dementia; measurement of sugar and lipid metabolism enzymes to diagnose lipid metabolism disease, mucopolysaccharide deposition disease, amino acid metabolism disease , Carbohydrate metabolism diseases, etc .; specific immunoglobulins measured in the amniotic fluid, such as interleukin-6, may have subclinical intrauterine infections, which can lead to miscarriage or premature birth.

4. Microbiological diagnosis. Immunology, chemiluminescence, or PCR can be used to detect whether there are infections such as rubella virus, cytomegalovirus, and EB virus in amniotic fluid. These can cause fetal abnormalities and may cause premature, stillbirth, or abortion.

In addition, amniotic fluid measurement can understand fetal maturity, such as liver, kidney, lung and other maturity. When dealing with high-risk pregnancies, in order to reduce the perinatal mortality rate, it is necessary to understand the maturity of the fetus before induction of labor, combined with the measurement of placental function, to choose a favorable time for delivery. When the blood type of the mother and child is suspected, the blood group substances and bilirubin in the amniotic fluid can be used to help the diagnosis, prevention and treatment of ABO hemolytic disease in the newborn. If a diagnosis of ABO blood group incompatibility is made, prenatal monitoring and rescue preparation for the newborn after delivery should be strengthened.

Of course, amniotic fluid measurement also plays an important role in criminal case detection and paternity testing.

What are the dangers of amniotic fluid diagnosis?

The process of collecting amniotic fluid by amniocentesis is generally safe. Although there is a risk of maternal damage, damage to the fetus, placenta and umbilical cord, leakage of amniotic fluid, miscarriage or premature birth, and intrauterine infection, the proportion does not exceed 1/200. .

Congenital diseases

According to medical statistics, about 2 to 3% of newborns born each year suffer from congenital diseases, which is one of the main causes of long-term lying sickness, disability, and even death of infants and young children; the causes are chromosomal abnormalities and single-gene inheritance. Disease, polygenic hereditary diseases, teratogenic factors, and nearly one-third of unknown causes.

In a modern society where quality is not heavy and health care is important, how to prevent and treat congenital diseases has become a very important issue. Understanding genetic patterns, understanding the characteristics of congenital diseases, planned births, and having a good cooperation with medical staff, and fully grasping the preventive measures provided by modern medical technology, is to reduce or even avoid birth of congenital diseases An effective way for the next generation.

Congenital disease chromosomal abnormalities

It is caused by the abnormal number or structure of chromosomes, most of which are caused by mutations, and only a small part are inherited by healthy parents of "balanced translocation cause". Human 23 pairs of chromosomes are places where genetic information is stored, and if something goes wrong, it will naturally cause deformities. Chromosomal abnormalities account for about 20% of all congenital diseases, the most common of which is "Down's disease".

Congenital disease single gene hereditary disease

It is because one of the approximately 65,000 genes possessed by humans has mutated, resulting in insufficient or defective production of gene products (such as enzymes, proteins, endocrine hormones, special conductive substances, etc.). Special functions fail to function and cause disease.

These diseases are more common:

(1) Cartilage hypoplasia: It is the most common type of dwarfism. The disease is a dominant genetic disease, but most of them are caused by mutations, that is, the parents are normal, and only a few are inherited from one of the parents. If the patient himself is married and is planning to have children, the disease is passed on The next generation has a 50% chance.

The main characteristics of this disease are short stature, short and deformed limbs, protruding forehead and large head, collapsed nose bridge, chin protrusion (pump-shaped), small thorax, and some children will have hydroencephalopathy. The development of motor coordination in infants and young children may be delayed, but they will gradually catch up when they grow up. The cause is a disease of the "fibroblast growth factor receptor-3 (FGFR3) gene" located on chromosome 4 p16.3. At present, there is no effective therapy, and only rehabilitation, surgery or medicine can be done according to the symptoms. treatment.

In terms of prenatal genetic diagnosis, ultrasound examinations in the second trimester of pregnancy must be accompanied by X-ray photography, which can help prenatal diagnosis of fetal dwarfism. For those with a family genetic history, genetic analysis can be used to determine the diagnosis.

Other more common dominant genetic diseases include neurofibromatosis, Marfan's disease, and polycystic kidney disease.

(2) Oceanic anemia: It is the most common recessive genetic disease in Taiwan. It is estimated that about 6 to 7% of the population is the cause of the disease. When these people happen to be married, one fourth of their children are born. Chance of suffering from severe anemia, if it is "severe type of marine anemia", it will die. If it is "severe type of marine anemia," it requires life-long blood transfusion and iron discharge, or bone marrow transplantation. Survive. Fortunately, currently, through the "mean red blood cell (MCV)" screening test, you can find couples who are genetically at risk and take amniotic fluid for genetic testing before birth to correctly diagnose whether the fetus is normal.

Other more common recessive genetic diseases include benzophenoneuria, congenital adrenal hyperplasia, and spinal muscular atrophy.

(3) Faba disease: It is the most common genetic disease of the Chinese people. The inheritance method is sexually linked recessive inheritance. Therefore, the main victim is male. It is estimated that 2 to 3% of people in Taiwan have faba disease constitution, and most of them have It is a descendant of the southerners, not a disease unique to the Hakkas.

The genetic disease of faba disease is the "glucose hexaphosphate dehydropyrene (G6PD) gene" which occurs at the Xq28 site of the X chromosome. Camphor pills), purple potion, some antipyretics, anti-inflammatory drugs, or broad beans, it will cause red blood cells to rupture and hemolyze, causing jaundice, anemia, hemoglobin (a large amount of hemoglobin is excreted from the urine), and other conditions that may be fatal.

Early detection of G6PD deficiency in newborns is currently possible through neonatal screening. Faba babies should be careful about excessive jaundice during the newborn period, and avoid exposure to the above-mentioned harmful substances, so that they can live as healthy as ordinary people.

Other common sexually linked recessive genetic diseases include color blindness, hemophilia, type 2 mucopolysaccharidosis, and Duchenne / Beck's myogenic muscular atrophy.

Polygenic inherited disease

Cleft lip and jaw, congenital heart disease, neural tube defects, etc. are all "genetic diseases," which refers to diseases that have a significant genetic predisposition and are caused by the interaction of different genes on multiple chromosomes. There is no fixed genetic pattern for this type of lesion, which is difficult to evaluate and prevent in advance. Its recurrence rate is about 3 to 5%. A high-resolution ultrasound scan of the fetus, or a special biochemical examination of the mother's blood in the second trimester, can help to some extent in the prenatal diagnosis of this type of disease.

Congenital disease

German measles is a gradual reduction of congenital infections. Its cause has nothing to do with genetic factors. It is entirely because pregnant women are infected with German measles in the early and middle stages of pregnancy. The fetus is affected and causes serious lesions that will damage the brain and nerves. System, hematopoietic system, eyes, heart and other important organs. However, as long as the full vaccination is performed and the mother is tested for German measles antibodies three or four months before preparing for pregnancy, if there is no antibody, the vaccine should be replenished, and then the pregnancy will be performed three months later to relieve the baby's fear of illness. .

Prenatal diagnosis of common diseases of congenital diseases

Among the congenital diseases, chromosomal diseases, neural tube defects and metabolic genetic diseases are more common. Clinical manifestations are developmental abnormalities, intrauterine death of the embryo or fetus, leading to miscarriage, premature birth, stillbirth, stillbirth or neonatal death. Survivors show different deformities, dysfunction, and mental retardation. If prenatal judgments can be made on congenital diseases, the birth of the child can be prevented, which will greatly benefit the family and society.

Prenatal diagnosis of neural tube defects in congenital diseases

Neural tube defects (NTD) refer to a group of central nervous system deformities caused by obstruction or reperforation of the neural tube after fetal closure, including anencephaly, open spina bifida and cerebral bulge. The incidence of NTD in China is 0.66 to 10.53 , with an average of 2.74 . It ranks first among birth defects in China. The country has listed it as a key research topic.

1. The AFP determination of pregnant women is used as a preliminary screening. For example, if the blood AFP of pregnant women is higher than the standard deviation of normal pregnant women in the same period by 2 standard deviations, the re-examination will be performed.

2. Amniocentesis was performed at 16-20 weeks of pregnancy to determine the AFP content in amniotic fluid. If it exceeds the normal value by more than 3 to 5 standard deviations, the diagnosis of NTD can be established. By AFP measurement, about 90% of NTD can be confirmed.

3 Amniotic fluid acetylcholine lipase (AChE) measures the production of AchE in neural tissues, which can penetrate into the amniotic fluid at NTD, resulting in significantly increased AchE activity in amniotic fluid. This enzyme content is relatively stable, not affected by pregnancy and fetal blood pollution, and makes up for the lack of AFP measurement.

4 The B-ultrasound examination was performed during the second trimester of pregnancy. The features of the B-mode ultrasound image of the brainless child were: lack of aura of the skull; the head of the fetus was replaced by a "nodule"; Meningeal sac can be seen; often with spina bifida, polyhydramnios.

5. X-ray abdominal plain film, amniotic cavity lipiodol imaging and other examinations can also be applied. But it is less commonly used now.

Prenatal diagnosis of congenital disease chromosome disease

Most chromosome diseases have miscarriages, so they only account for about 5% of the total number of births, but the diagnosis rate is high, accounting for 25-50% of the cases diagnosed prenatally.

Target: 1. Older pregnant women over 35 years of age; 2. 2. Have had a child with chromosome disease; One of the couple is a carrier of chromosome translocation; 4. 4. Have ever had a child with NTD; 5. 5. Unexplained multiple abortions, stillbirths and stillbirth pregnant women; Children with congenital metabolic disease or born metabolic disease; 8. Family members with severe accompanying genetic disease; 8. Long-term exposure to harmful substances (for radiation, pesticides) to pregnant women and embryos.

Diagnostic methods: Early villous slides, amniotic fluid cell culture, maternal blood, and fetal blood cells are analyzed for karyotypes to confirm the diagnosis. Conditional units can be diagnosed with new technologies such as DNA recombination, DNA gene amplification (PCR), and gene analysis.

Prenatal diagnosis of metabolic genetic diseases of congenital diseases

Metabolic genetic diseases are caused by mutations in genes on the chromosome, resulting in the loss or abnormality of enzymes. The catalytic process of an enzyme controlled by the original gene cannot proceed normally. The metabolic process is disordered and destroyed, causing some substances to be deficient and others Mass accumulation, which affects the metabolism and development of the fetus. At present, more than 1,000 diseases have been found, most of which are recessive inheritance of autosomal, and few are X-linked recessive inheritance and autosomal dominant inheritance.

Diagnosis method: 1. 1. Examination of specific metabolites in pregnant women's blood or urine, such as determination of methylmalonic acid in urine; 2. Analysis of amniotic fluid, to measure abnormal metabolites released by fetus in amniotic fluid, such as adrenal genital syndrome can be checked 17 steroid content; Under the guidance of B-ultrasound or fetal microscopy, fetal blood, villous cells, and amniotic fluid cells were taken and cultured, and enzymes or other biochemical components were measured for diagnosis. New technologies such as DNA recombination and DNA amplification enzyme-linked polymerization (PCR) can also be used.

The difference between congenital and genetic and familial diseases

Congenital diseases: Congenital diseases are often mistaken for genetic diseases. Congenital diseases are closely related to heredity, but they are not entirely a type of disease. Congenital diseases are diseases that exist before or after birth, most of which are abnormal development of the external shape of the body and internal organs. They are often related to genetics and can be genetic diseases such as hydrocephalus, anencephaly, spine Crack, congenital absence of anus, etc. However, it also includes fetal diseases caused by maternal environmental factors, such as congenital heart defects, congenital cataracts and other congenital malformations caused by rubella virus, cytomegalovirus, toxoplasma, or contact with teratogenic substances in the first trimester of pregnancy. Or birth defects, although congenital, are caused by environmental factors. Such diseases are not passed on to offspring, so they are not genetic diseases.

Familial disease

Speaking of familial diseases is also often misunderstood, that familial diseases are all genetically related. In fact, otherwise, the so-called familial disease refers to the onset of more than one person in the same family, which is often a genetic disease, but may also be caused by the same adverse environmental factors. Such as scurvy caused by vitamin C deficiency, children with mental retardation caused by hypothyroidism caused by iodine deficiency, parasitic diseases and severe infectious diseases, etc., these can be caused by many people in the family, but it cannot be considered as Genetic disease. However, it should be noted that with the continuous development of life science research, some infectious diseases previously considered to be unrelated to genetics, such as polio, diphtheria, and chronic active hepatitis, have also been found to be related to genetic factors. Studies have confirmed that there is a polio susceptibility gene on chromosome 19, children with this gene are susceptible to polio, and a diphtheria toxin-sensitive gene has also been found on chromosome 5. Children with this gene are susceptible to diphtheria and HLA People with the B8 gene are susceptible to chronic active hepatitis.

Genetic disease

It refers to a disease that is completely or partially determined by genetic factors. It is often congenital and can also develop the disease. Such as congenital stupidity, multi-finger (toe), congenital deafness, hemophilia, etc. These genetic diseases are completely determined by genetic factors, and they are born at birth. However, some genetic diseases that are completely determined by genetic factors may also develop after a certain time of birth, and sometimes it may take years, decades, or even decades to show obvious symptoms. For example, Duchenne muscular dystrophy does not develop until childhood; chronic progressive chorea usually does not manifest itself until middle age. Some genetic diseases require genetic factors and environmental factors to work together. For example, asthma, genetic factors account for 80%, environmental factors account for 20%; gastric and duodenal ulcers, genetic factors account for 30% to 40%, and environmental factors account for 60% to 70%. Genetic diseases often occur in multiple people in a family, and they are familial, but it is also possible that there is only one patient in a family, which is sporadic, such as phenylketonuria. Recessive chromosomal genetic disease. Only when both spouses carry a gene that causes the disease, the child will become homozygous for the recessive pathogenic gene (both genes in the same gene locus are abnormal) and become ill. Therefore, it is mostly distributed, especially in families with only one child. It is not surprising that patients with genetic diseases occasionally circulate.

Congenital disease

Congenital diseases are those that occur from birth. During pregnancy, the mother is exposed to environmentally harmful factors, such as pesticides, organic solvents, heavy metals and other chemicals, or excessive exposure to various rays, or taking certain drugs, or contracting certain germs, and even some habits, such as sauna ( Steam bath) and eating habits can cause fetal congenital abnormalities, but it is not a genetic disease. If there are other people in the family who have had the same disease and are of similar age, it may be a genetic disease. Congenital anomalies can also be found in women's lack of folic acid before and during pregnancy, which can cause spina bifida and an increased chance of birth of children with no brain. Hip delivery and pregnancy are too old, often resulting in congenital hip dislocation and mental retardation. Some very rare genetic diseases often cannot be found in the families of both parents. So how do these diseases arise? Studies show that genetic material in our bodies

Contains 100,000 pairs of genes, each with more or less a few bad genes. These bad genes are usually hidden. Only when the couple's bad genes happen to be paired with the same gene will the child develop the disease. Because this possibility is very small, the incidence of such recessive inherited diseases is only less than one in tens of thousands. If close relatives get married, the couple is likely to have the same bad genes, and the possibility of pairing these genes will increase tens of times, or even hundreds of times. Therefore, the more rare the genetic disease, the greater the proportion of children born to close relatives who marry. Although the Han nationality in our country forbids marriage with cousins with the same surname, the marriage of cousins and cousins of the opposite sex is not prevented. In fact, from the perspective of genetics, cousins and cousins have the same close relatives, and children after marriage may encounter various recessive genetic diseases. Some parents said that although our husband and wife are in the same area, they have different surnames and are not close relatives within three generations, which fully complies with the provisions of the marriage law. Why do we still have defective children? This is because China used to be a relatively conservative society. In many areas, the population has rarely moved for thousands of years, and the radius of intermarriage is relatively small. Due to geographical isolation or due to ethnic, religious, and customary relationships, it is often the case in China's rural areas to marry a wife and not go home, or the same old ancestor hundreds of years ago. In this way, although people in a local area have different surnames, a large part of the genes in the body are the same, and the defects of these genes are easily overlapped and manifested in their children. In China, the incidence of genetic diseases such as mental retardation can reach up to 50%, all of which occur in remote ethnic minority groups. Once the congenital disease appears, it will bring a serious burden to the family and society. Whether the child died or died, it will make the child and the family miserable. To avoid it, in addition to staying away from all kinds of harmful physical, chemical and biological harmful factors, you should also actively seek out marriage partners in distant people without any blood relationship. For those families with birth defects, they should first go to a hospital with a genetic specialty to make an accurate diagnosis of the patient, cooperate with the doctor's inspection and sampling for timely treatment and eugenic consultation, and do not seek blind medical treatment. Do not risk having a second or third child until you have identified the cause and are ready for prenatal diagnosis. Not only that, but also to check whether all relatives carry the same bad genes as children, to avoid the recurrence of tragedy. If the same congenital disease occurs repeatedly in the home, or the miscarriage caused by it, it is recommended that the couple no longer give birth blindly, and a healthy child can be obtained through prenatal genetic diagnosis or adoption. In addition, many inborn metabolic diseases can be controlled and treated during fetal life or at birth. For example, ketonuria, galactosemia and other diseases, if the infant is given a special diet within one month after birth or during pregnancy, supplemented with drugs such as hormones, vitamins and special nutrition factors, many children can get Controlled without morbidity.

Instructions for eugenics with congenital diseases

About genetic diseases How does genetic disease occur? If the father or mother has a defective gene (that is, she has a genetic disease), or because of internal or external reasons (radiation, certain drugs, etc.), the gene has been deleted or mutated during numerous replications , It also brings genetic diseases. Are congenital diseases hereditary? People often think of congenital diseases as genetic diseases. In fact, these are two completely different concepts. Congenital diseases are acquired during the fetal period, that is, during the growth and development of the fetus in the womb, they are affected by external or internal adverse factors, resulting in abnormal fetal fertility, and there are already manifestations or symptoms at birth. Such as: deformities caused by rubella virus infection, congenital hip dislocation and so on. Genetic disease refers to the abnormal development of the sperm or egg of the parents, which causes the qualitative or functional abnormality of the fetal generator. This disease can be manifested after birth, or it can be manifested after reaching a certain age after birth. For example: Mental illness can be inherited, and most of them do not start until adolescence.

Congenital diseases Congenital diseases that cause male infertility

The following congenital disorders can cause male infertility:

(1) Congenital penile developmental abnormalities: such as concealed penis, no penis, small penis, ectopic penis, etc.

(2) Congenital developmental abnormalities of the urethra: such as upper urethral fissure, hypourethral fissure, congenital urethral diverticulum, stenosis, etc.

(3) Testicular congenital abnormalities: such as testis-free, cryptorchidism, and ectopic testis.

(4) Other congenital germline developmental abnormalities: such as congenital epididymis and insemination duct obstruction, seminal vesicle hypoplasia or absence, prostate dysplasia or diverticulous accessory gonad dysfunction.