What is a birth defect?What is a birth defect?
Birth defects refer to abnormalities in the form, structure, function, metabolism, spirit, behavior, etc.
Some abnormalities in birth defects are visible to the naked eye, and some abnormalities require special tests to confirm the diagnosis
Common birth defects include: neural tube malformations (anencephaly, hydrocephalus, spina bifida, cleft lip and palate, cerebral bulge, etc.
What is the "tertiary prevention" of birth defects?What is the "tertiary prevention" of birth defects?
Primary prevention: prevent the occurrence of birth defects
Secondary prevention: reduce the number of births in children with birth
Tertiary prevention: improve the quality of life of children born, prevent disease and disability, promote health, early detection of defective babies, early diagnosis, timely and effective treatment and rehabilitation
What are the causes of birth defects?What are the causes of birth defects?
Birth defects occur
Genetic factors include single- or polygenic genetic diseases, chromosomal diseases, etc
Environmental factors include biological factors (toxoplasma, viruses, bacteria, chlamydia, mycoplasma, etc.
What kind of population should have genetic counseling?What kind of population should have genetic counseling?
The blood type of the husband and wife is not compatible
of childbearing age who have been exposed to a poor environment for a long time.
Both spouses or members of the family have some genetic disease or congenital malformation
Parents with unexplained mental retardation or congenital malformations
Parents of children with genetic diseases or children with congenital malformations
with chronic or infectious diseases.
There is a history of taking drugs or a history of viral infection during pregnancy
Does taking medication after pregnancy have an effect on the fetus?Does taking medication after pregnancy have an effect on the fetus?
The effects within 2 weeks after fertilization are complete or none
If the drug seriously harms the fertilized egg, making it impossible to divide and develop normally, it will be aborted
If the medication does not cause serious harm to the fertilized egg, the fertilized egg repairs itself and continues to develop
Therefore, if you accidentally take medicine during this time, you can
just go with the flow.
From 2 weeks to 3 months after fertilization, it is most likely to cause fetal malformations due to the influence of external environment or drug factors, which is called "teratogenic sensitive period"
Because this period is the period when the cells formed by the fertilized egg are differentiating into the fetus, the formation of fetal organs is prone to malformations
After 3 months after fertilization, the embryo is affected by adverse factors and often causes abnormal fetal organ function, and causes less
Because the central nervous system and sexual organs have a long time of differentiation and development, they are also sensitive to teratogenic factors in the third trimester of pregnancy, such as pregnancy violations will affect the development of fetal intelligence, so eugenic protection
should be carried out throughout pregnancy.
What are the screenings for birth defects?What are the screenings for birth defects?
Maternal serological examination (Down syndrome screening): It is through laboratory blood testing methods of pregnant women and combined with other clinical information to screen out the fetus for certain congenital diseases and/or hereditary disease risks
The examination should be performed on an empty stomach or with a
The screening time during the first trimester is 9-13+6 weeks, and the screening time during the second trimester is 15-20+6 weeks, which requires B-ultrasound results of more than 7 weeks of pregnancy, and non-invasive DNA prenatal screening technology
can also be selected.
NT examination (measuring the thickness of the transparent layer behind the neck of the fetus): NT is carried out at 11 to 13 + 6 weeks of pregnancy by ultrasound examination, and has not been fully formed before 11 weeks, while it is gradually absorbed
by the lymphatic system at 14 weeks.
NT thickening does not indicate that the fetus has abnormalities, but only that the probability of having chromosomal problems and cardiac problems after birth is high, and there is a risk of Down syndrome, and further examination should be carried out to determine whether the fetus is malformed
Color ultrasound (deformity screening): it is recommended to be performed at 18-24 weeks
Through color ultrasound, the overall structure of the fetal body surface and internal organs is systematically examined to understand the general situation of fetal growth and development, and to screen whether the fetus has malformations
If the color ultrasound finds abnormalities, it should be further examined
Amniocentesis is the prenatal diagnosis, the gold standard for judging whether the fetal chromosomes are normal, and all pregnant women at high risk of prenatal screening are recommended to check amniocentesis, which is the standard
for judging whether the fetal chromosomes are normal.