A technique to detect the genetic disorder at embryonic stage , Amniocentesis

• Amniocentesis  is a technique that  has been used to detect or diagnose genetic disorders or chromosomal abnormalities by examining the amniotic fluid present in the amniotic cavity of foetus.

• it is also used to detect the  foetal sex. It  had been confirmed that the karyotype of foetal and amniotic cells are identical in 1963.

• Steele and Brag  demonstrated that amniotic cells can be cultured in sufficient quantities and have the same karyotype with the foetal chromosome. 

• Amniocentesis may be done for women at 35 years or older. If there is a  strong chance for the aneuploidy or polyploidy in her genetic constitution. 

• Amniocentesis is an essential tool for the  testing or diagnosing of genetic impairment and chromosomal abnormalities.

• Amniocentesis should still be recommended to all women who want more accuracy in genetic testing.

• Amniocentesis is also very useful in providing additional information other than genetic testing. 

• If intra-amniotic infection is suspected then amniocentesis is very useful to test the reality of suspecion.

• It can immediately clarify the picture  and finally confirm the presence of infection.It can also be used to detect the presence of intrauterine viral infections. 

• Amniocentesis is generally performed after fifteen week of pregnancy. The amniotic fluid volume at this gestational age is sufficient.

• Before the amniocentesis, an ultrasound should be performed to evaluate the placental and foetal location and to confirm gestational age and fetal viability.  Ultrasound is essential to avoid the number of insertions by the needles. 

• Amniocentesis should not be done in case of late delivery after the prescribed time. 

• It may be useful  in decision-making, when time of delivery  is not defined. 

• Amniocentesis is also very useful to explore the additional information  during the second and third trimester.

• If intraamniotic infection is suspected, but the clinical proclamation is not clear then , amniocentesis can provide valuable information  and can make  clear the picture about the complexibility. 

👌👌Remember - Amniocentesis had been banned because the cases of female foeticide were increasing. Later on it was resumed with strict conditions.

• Amniocentesis can not be done for  all pregnant women. It may be  only  if there is a probability that the upcoming child may have any genetic disorder or mother may face any complexity during parturition.

• if baby has chances to get affected from the following genetic disorders like Down's syndrome, Edwards' syndrome or Patau's syndrome Or if you have a family background of a genetic condition, such as sickle cell disease, thalassaemia, cystic fibrosis or muscular dystrophy.

• Amniocentesis can be used to diagnose a number of conditions, including:

• Down's syndrome – A child with Down's syndrome has following characteristic - Partial open mouth, short statured and mental retardation ,  learning disability etc.

• Edwards' syndrome and Patau's syndrome  - These lead the miscarriage, severe physical problems and learning disabilities

• Cystic fibrosis – a condition where the lungs and digestive system are not demarcated. 

• Muscular dystrophy : It causes muscle weakness and muscle  disability

• Sickle cell Anaemia  – Red blood cells assume shape of sickle and clamp each other in blood vessel.As a result, oxygen is not transported properly.

• Thalassaemia – a condition that affects structure of haemoglobin  and may  cause anaemia, 

• Amniocentesis is usually carried out between the second trimester  of pregnancy. It can be performed earlier, but this may increase the risk of complications of amniocentesis.

• During the Testing of Amniocentesis,  a thin needle is inserted through your abdominal wall, through the visualisation of ultrasound images.

• The needle is inserted into the amniotic sac that is present around the foetus and a small sample of amniotic fluid is removed for analysis.

• The test usually takes about ten to twenty  minutes. Amniocentesis is usually described as being uncomfortable rather than painful.

• Some women describe experiencing a pain similar to period pain or feeling pressure when the needle is taken out.