Prenatal diagnosis: Should I do prenatal diagnosis? What items should I check?

Women need to have regular prenatal checkups after they become pregnant. The checkup items are different at different stages of pregnancy. Some women will be assigned to the prenatal diagnosis department for prenatal diagnosis during their prenatal checkups. So what are the items in the prenatal diagnosis? Should we do it?

Should prenatal diagnosis be done?

Prenatal diagnosis is also called pre-birth diagnosis. It mainly determines whether the chromosomes or genes of the fetus are normal and screens the fetus for congenital defects and genetic diseases. If the fetus is confirmed to have a serious genetic disease or congenital malformation, the pregnancy will be terminated. Therefore, prenatal diagnosis is an effective means to prevent the birth of children with genetic diseases.

According to clinical practice, combined with the diseases that can be diagnosed prenatally, it is generally considered that prenatal diagnosis should be performed in one of the following situations:

1. One of the spouses has chromosomal abnormalities, especially balanced translocation carriers, or couples who have given birth to children with chromosomal diseases;

2. Pregnant women aged ≥ 35 years;

3. One of the spouses suffers from open neural tube defect, or has given birth to a child with this congenital malformation;

4. One of the spouses suffers from congenital metabolic defects, or the pregnant woman has given birth to a child with such a defect;

5. Pregnant women who are carriers of X-linked recessive genetic diseases;

6. Pregnant women with a history of unexplained miscarriage, stillbirth, malformation, and neonatal death;

7. Pregnant women whose wives are in early pregnancy or whose husbands are exposed to teratogenic factors before pregnancy, such as chemical poisons, radiation, viral infection, etc.;

8. Pregnant women with a family history of inheritance and consanguineous marriage.

What items are checked in prenatal diagnosis

The main diseases screened for in prenatal diagnosis are:

Chromosomal disorders, such as trisomy 21, also known as Down syndrome, which can affect a child's intellectual development;

Sexually recessive genetic diseases such as red-green color blindness and hemophilia (a bleeding disease with hereditary coagulation disorders) require chromosome testing. If a male fetus carries the chromosome, the disease will definitely occur, but a female fetus will not necessarily develop the disease as it is a carrier.

Genetic metabolic defects, such as phenylketonuria, which can also affect children's intellectual development;

Non-chromosomal congenital malformations, such as neural tube defects.

What is the difference between prenatal diagnosis and obstetrics?

Prenatal diagnosis can be regarded as a sub-department under obstetrics. Hospitals with prenatal diagnosis departments have a more detailed division. Not every hospital has a prenatal diagnosis department. To open a prenatal diagnosis department, you need to have the qualifications for prenatal diagnosis.

Prenatal diagnosis is mainly aimed at testing and diagnosing babies who are still in the fetal stage and are suspected of having certain diseases, so as to make better clinical decisions, intervene in time for diseases that can be treated in utero, and make informed choices for untreatable diseases.

For example, the more familiar Down syndrome screening can usually be performed in ordinary obstetric clinics, but if the result is high-risk, amniocentesis is needed for further judgment. In that case, if the hospital has a prenatal diagnosis department, it will recommend that you go to the prenatal diagnosis department for amniocentesis and subsequent treatment.

Sometimes, when we are doing routine prenatal check-ups and find some suspicious abnormalities through B-ultrasound, we can usually go to the prenatal diagnosis department for consultation.