What can amniocentesis detect?
Disease description:
Hello doctor, I am currently pregnant, and my doctor has recommended that I undergo an amniocentesis test. I don't know much about this examination and would like to understand specifically what conditions amniocentesis can detect. To be honest, I feel somewhat anxious about undergoing this test, so I would like to know in detail what kinds of issues it can identify, so I can have a better understanding. Could you please explain it to me in detail?
Doctor's answer (1)
Dr. Zhang Lu
Amniocentesis is a diagnostic procedure performed during pregnancy, primarily used to detect whether the fetus has chromosomal abnormalities or single-gene inherited diseases. It can also be used to assess fetal development.
1. Chromosomal abnormalities: This is the main focus of amniocentesis. Abnormalities in the number or structure of fetal chromosomes, such as Down syndrome, Edwards syndrome, and others, can be accurately diagnosed through amniocentesis. These chromosomal disorders can cause severe intellectual disabilities, developmental delays, and multiple organ malformations in the fetus.
2. Single-gene inherited diseases: Diseases caused by mutations in a single gene, such as thalassemia and phenylketonuria. By analyzing the genes in amniotic fluid cells, it is possible to determine whether the fetus carries disease-causing genes, facilitating early intervention.
3. Fetal development status: Amniocentesis can also measure biochemical markers in the amniotic fluid, such as alpha-fetoprotein, to evaluate whether the fetal neural tube is malformed. Neural tube defects such as spina bifida and anencephaly can be detected through this method.
In addition, if a pregnant woman has an intrauterine infection, microbial culture of the amniotic fluid can help identify the presence and type of infection, enabling timely treatment and ensuring fetal health.
