What is amniocentesis?

Amniocentesis is a relatively common diagnostic method, which is a method of checking fetal health. When there is a suspected problem with the fetal health and further examination and diagnosis is needed, amniocentesis can be considered, such as to determine congenital malformations, congenital metabolic defects, etc. The more common ones include Down syndrome screening, etc., which is a relatively common examination method.

As the age of pregnant women increases, the relative risk of giving birth to children with chromosomal abnormalities also increases. According to statistics, pregnant women around 40 years old have a 4.5% chance of giving birth to a child with chromosomal abnormalities. Pregnant women who have given birth to children with chromosomal abnormalities, regardless of their age, have a higher chance of giving birth to a child with the same abnormality in their next pregnancy. Taking congenital idiocy as an example, the probability of another child with the same disease being born is about 2%.

Congenital malformations

By measuring the alpha-fetoprotein in the amniotic fluid, we can know whether the fetus is deformed. Alpha-fetoprotein is a unique protein in the fetal period. Some congenital malformations can greatly increase the alpha-fetoprotein content in the amniotic fluid.

Inborn errors of metabolism

Inborn errors of metabolism refer to diseases caused by inherited enzyme defects. More than 100 kinds of inborn errors of metabolism have been discovered, of which more than 80 can be diagnosed through prenatal examination of enzymes in amniotic fluid.

Chromosomal abnormalities

The fetus lives in the amniotic fluid, and the epithelial cells of its skin, respiratory tract, digestive tract and urinary tract cells are shed into the amniotic fluid. After special treatments such as culture, these cells can be used for chromosome karyotype analysis, which can accurately determine whether the number and structure of fetal cell chromosomes are normal and diagnose chromosomal abnormalities.

Sex-linked genetic diseases

Sex-linked genetic diseases are related to gender. Amniotic fluid examination can determine the gender of the fetus and indirectly diagnose sex-linked genetic diseases, thereby preventing the birth of children with such genetic diseases.