Updated by: Arabinda Naik
amniocentesis is a medical procedure used in prenatal diagnosis of chromosomal abnormalities such as Down syndrome, and spina bifida, baby’s lungs are mature enough for birth and fetal infections. in which a small amount of amniotic fluid from the amniotic sac is removed and sampled. the fluid contains foetal tissue. The tissue is separated and chromosomes from the cells are karyotyped. The DNA is isolated from the cells. It is then analyzed for genetic abnormalities. If it is established that the child is likely to suffer from a serious incurable defect, the mother should get the foetus aborted.
Procedure: Before the start-up procedure, an alcohol anesthetic is given to the mothers to relieve the pain during the insertion of the needle used to withdraw amniotic fluid. After the local anesthetic is in effect the needle is inserted through the mother's abdominal wall, then through the wall of the uterus, and finally into the amniotic sac. With the help of ultrasonography, a doctor extracts 20 ml of amniotic fluid. fetal cells are separated from the extracted sample. The cells are grown in a culture medium and then fixed and stained. Under the microscope, the chromosomes are examined for abnormalities. Common abnormalities are Down syndrome (Down syndrome is caused by a problem with a baby chromosome). Normally, a person has 46 chromosomes. but most people with Down syndrome have 47 chromosomes. Having extra or abnormal chromosomes changes the way the brain and the body develop. (Trisomy 21), Edward syndrome (trisomy 18) is a condition that is caused by an error in cell division known as meiotic disjunction. When this happens, instead of the normal pair, an extra chromosome 18 results in a triple in the developing baby and disrupts the normal pattern of development in a significant way that can be life-threatening, even before birth and Turner syndrome (monosomy X0) Turner syndrome TS also known as the X0 is a condition in which a female is partly or completely missing an X chromosome. Signs and symptoms vary among those affected. which term often a short and webbed neck, low set ears, low hairline at the back of the neck, short stature, and swollen hands and feet are seen at birth. Typically, they develop menstrual periods and breasts only with hormone treatment and are unable to have children without reproductive technology. Heart defects, diabetes, and low thyroid hormone occur more frequently. Most people with TS have normal intelligence. Many, however, have trouble with spatial visualization that may be needed for mathematics. Vision and hearing problems occur more often.
Unfortunately, this technique is being misused for sex determination and if the sex determined comes out to be a girl, people undertake actions that led to female feticide. Thus, this procedure has certain legal restrictions on gender.