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Fetal malformation

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Disease name
Gao Jinsong Chief physician (written) Beijing Union Medical College Hospital Obstetrics and Gynecology
Fetal malformation refers to the structure or Chromosomal abnormality Fetal malformations account for about 3% of live births. About 5 million people in the world every year birth defect One baby is born every 5-6 minutes on average, and more than 85% of babies are born in developing country Chinese congenital Disabled children The total number is up to 800000-1200000, accounting for Chinese born Total population 4%~6%. Severe malformations can lead to fetal/neonatal death or severe disability.
The causes of fetal malformation are complex, including: the fetus itself genetic Factors, parent or outside environmental factor Etc.
Prevention of fetal malformation, timely detection of severe fetal malformation and induction of labor are to improve the birth rate Population quality One of the important means of.
Foreign name
fetalanomaly
Visiting department
Obstetrics and Gynecology Department
Common causes
Maternal or environmental factors
common symptom
21 trisomy syndrome, congenital heart disease, neural tube defect, cleft lip and palate, multiple fingers/toes, hydrocephalus, etc
Chinese name
Fetal malformation

pathogeny

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(1) Radiation When the radiation dose absorbed by the fetus in early pregnancy exceeds 5 rad, the risk of fetal malformation will increase significantly;
(2) Chemicals Some drugs can cause fetal malformation, especially when used in early pregnancy, so medication in pregnancy should be used reasonably under the guidance of doctors. Rural women should avoid exposure to pesticides during pregnancy. Long term heavy drinking can lead to Fetal alcohol syndrome , represented by Microcephaly Mental retardation And a special face. Heavy metals (mercury, lead, etc.) increase the risk of fetal malformation.
(3) Infection Maternal infection with certain microorganisms during pregnancy can lead to fetal infection and fetal malformation, such as Rubella , giant cell Herpes simplex tox Syphilis Etc.
(4) Early pregnancy High fever
(5) Pregnancy hyperglycemia diabetes Poor control of blood sugar in early pregnancy of pregnant women can increase the risk of fetal malformations, mainly congenital heart disease, neural tube malformation, cleft lip and palate, etc.
(6) Dietary factors Food folate deficiency increases the risk of fetal neural tube defects and cleft lip and palate.
2. Genetic factors
It's from parents genetic material The abnormality caused by abnormal. For example, parents have chromosome abnormalities, and parents carry mutant genes. Sometimes Zygote It happened to itself Chromosome segregation Abnormal or gene mutation. When a close relative marries, the risk of both husband and wife carrying the same abnormal gene increases, leading to some Recessive hereditary disease The incidence of HIV/AIDS has increased significantly, so close relatives are not suitable for marriage or childbirth.

clinical manifestation

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The most common fetal malformations include trisomy 21 Congenital heart disease Neural tube defect Cleft lip and palate Multifingering /Toe Hydrocephalus Etc.

inspect

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At present, China conducts prenatal screening for major fetal abnormalities, mainly including trisomy 21 syndrome Trisomy 18 syndrome Open neural tube defect Anencephaly , severe hydrocephalus, some serious congenital heart disease, etc.
It is a common method to check fetal malformation. Generally, it is checked at 20-24 weeks of pregnancy, and all organs of the fetus can be clearly shown by B-ultrasound. If B-ultrasound finds that the fetus is seriously deformed at this time, it should be aborted in time to avoid delaying Late pregnancy It causes more pain to pregnant women. But not all Malformed fetus Can be detected by B-ultrasound, because Chromosomal abnormality Caused by Congenital stupidity Or some minor malformations can not be detected by B-ultrasound; Some malformations will not show up until late pregnancy; Due to the limited resolution of ultrasound and technical reasons, some abnormalities may occur in Ultrasonic examination Missed diagnosis.
magnetic resonance Due to multi bit imaging soft tissue It is characterized by high resolution, non radiation and safety to fetus, and has broad prospects for its application in obstetrics. It has become an important verification and supplementary diagnostic means for fetal abnormalities found by ultrasound in prenatal diagnosis. Especially in diagnosing the fetus central nervous system Abnormality, such as identification cerebral hemorrhage And so on.
3. Interventional prenatal diagnosis
adopt Amniocentesis Cord blood puncture And other technologies, which can carry out Karyotype analysis Gene testing So that some fetuses Congenital disease Make a diagnosis.

diagnosis

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Many abnormal fetuses have been diagnosed in utero through prenatal diagnostic techniques such as fetal systemic ultrasound and amniocentesis. However, the prenatal diagnosis rate of fetal malformations is not satisfactory at present. The main reasons are: ① some malformations are difficult to be found in utero; ② Limitations of prenatal diagnosis technology; ③ The limitation of medical conditions makes it difficult to carry out prenatal diagnosis widely.

treatment

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Most nonfatal malformations do not need to be performed during pregnancy Surgery Interventions, such as congenital heart disease, can be carried out after birth surgical treatment However, some fetal malformations may affect the intrauterine safety of the fetus, which requires intervention during pregnancy. Because of the high risk of surgery technical requirement High. At present, most fetal intrauterine treatment is still in the experimental stage.
1. Intrauterine treatment
Fetoscope Surgery is mainly used for treatment Twin transfusion syndrome or Foetus reduction It is reported abroad that it is used to treat fetuses diaphragmatic hernia Meningocele , urinary tract obstruction, etc.
2. Postpartum treatment
Such as ventricular shunt surgery for hydrocephalus, repair of cleft lip and palate, surgical treatment of congenital heart disease Phenylketonuria Drug treatment, etc.

prevention

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one Premarital medical examination , some diseases found through inspection, such as hepatitis B STD These diseases will affect the health of future generations and cause fetal malformations, and pregnancy can only be achieved after treatment;
2. Make preparations before pregnancy, make preparations and plan for pregnancy, and carry out some necessary examinations, such as Rubella virus testing. Rubella virus infection can cause congenital heart disease And congenital deaf cataract And other deformities, you can hit Rubella vaccine To prevent rubella virus infection.
3. Take before pregnancy folic acid : Taking folic acid three months before pregnancy can effectively prevent the fetus Neural tube malformation
4. High risk pregnant women should receive prenatal counseling.
5. Regular prenatal examination after pregnancy: avoid poor contact Environment and drugs, quit drinking and smoking, do Down screening B-ultrasonic inspection Wait, if necessary prenatal diagnosis , timely detect fetal abnormalities.
6. When medication is needed Consult a doctor To avoid improper medication affecting the fetus.