Beijing Union Medical College Hospital Obstetrics and Gynecology
Fetal malformation refers to the structure orChromosomal abnormality。Fetal malformations account for about 3% of live births.About 5 million people in the world every yearbirth defect One baby is born every 5-6 minutes on average, and more than 85% of babies are born indeveloping country。Chinese congenitalDisabled childrenThe total number is up to 800000-1200000, accounting for Chinese bornTotal population4%~6%.Severe malformations can lead to fetal/neonatal death or severe disability.
The causes of fetal malformation are complex, including: the fetus itselfgeneticFactors, parent or outsideenvironmental factorEtc.
Prevention of fetal malformation, timely detection of severe fetal malformation and induction of labor are to improve the birth ratePopulation qualityOne of the important means of.
(1)RadiationWhen the radiation dose absorbed by the fetus in early pregnancy exceeds 5 rad, the risk of fetal malformation will increase significantly;
(2) ChemicalsSome 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 toFetal alcohol syndrome, represented byMicrocephaly、Mental retardationAnd a special face.Heavy metals (mercury, lead, etc.) increase the risk of fetal malformation.
(3) InfectionMaternal infection with certain microorganisms during pregnancy can lead to fetal infection and fetal malformation, such asRubella, giant cellHerpes simplex、tox 、SyphilisEtc.
(5) PregnancyhyperglycemiadiabetesPoor 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 factorsFood folate deficiency increases the risk of fetal neural tube defects and cleft lip and palate.
2. Genetic factors
It's from parentsgenetic materialThe abnormality caused by abnormal.For example, parents have chromosome abnormalities, and parents carry mutant genes.SometimesZygoteIt happened to itselfChromosome segregationAbnormal or gene mutation.When a close relative marries, the risk of both husband and wife carrying the same abnormal gene increases, leading to someRecessive hereditary diseaseThe incidence of HIV/AIDS has increased significantly, so close relatives are not suitable for marriage or childbirth.
At present, China conducts prenatal screening for major fetal abnormalities, mainly including trisomy 21 syndromeTrisomy 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 delayingLate pregnancyIt causes more pain to pregnant women.But not allMalformed fetusCan be detected by B-ultrasound, becauseChromosomal abnormalityCaused byCongenital stupidityOr 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 inUltrasonic examinationMissed diagnosis.
magnetic resonanceDue to multi bit imagingsoft tissueIt 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 fetuscentral nervous systemAbnormality, such as identificationcerebral hemorrhageAnd so on.
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; ②Limitations of prenatal diagnosis technology; ③The 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 pregnancySurgeryInterventions, such as congenital heart disease, can be carried out after birthsurgical treatment。However, some fetal malformations may affect the intrauterine safety of the fetus, which requires intervention during pregnancy.Because of the high risk of surgerytechnical requirementHigh. At present, most fetal intrauterine treatment is still in the experimental stage.
Such as ventricular shunt surgery for hydrocephalus, repair of cleft lip and palate, surgical treatment of congenital heart diseasePhenylketonuriaDrug treatment, etc.
prevention
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onePremarital medical examination, some diseases found through inspection, such ashepatitis B、STDThese 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 asRubella virustesting.Rubella virus infection can cause congenitalheart diseaseAnd congenitaldeaf、cataractAnd other deformities, you can hitRubella vaccineTo prevent rubella virus infection.
3. Take before pregnancyfolic acid: Taking folic acid three months before pregnancy can effectively prevent the fetusNeural tube malformation。
4. High risk pregnant women should receive prenatal counseling.