Prenatal Diagnostic Procedure of Thalassemia & Sickle Cell Anemia & other Genetic Disorders

Amino screening or amniocentesis is a prenatal test for diagnosing Thalassemia and Sickle Cell Anemia or Sickle Cell Disease (SCD).

A doctor passes a thin needle into the patient's belly and into the uterus to take a small quantity of amniotic fluid. A sample of the amniotic fluid collected is sent to the laboratory for analysis.

Prenatal diagnosis is attainable for around 70–75% of pregnancies at the potential for beta-thalassemia and approximately 90% of pregnancies at risk for SCD when just amniocentesis is performed.

A chorionic villus sampling, often known as CVS, is a procedure that involves taking a tissue sample from the placenta from inside the uterus. The sample is subsequently sent to the laboratory for analysis.

CVS may be performed early in the pregnancy is its most significant advantage. It is highly capable of identifying genetic anomalies. But other things that amniocentesis can identify are not picked up by it, like neural tube defect, Rh incompatibility, and congenital disability.

Significance of Prenatal Diagnosis of Thalassemia and Sickle Cell Anemia

Both sickle cell anemia and thalassemia are hereditary forms of blood diseases.

It is possible to transfer your child to sickle cell anemia or thalassemia if you have the gene for either of these illnesses and are a carrier for them.

It is recommended that all pregnant women have a blood test to determine whether they contain the thalassemia gene.

A sickle cell test is a must for those at a high risk of carrying sickle cell.

The father is also asked for screening if the mother is discovered to be a carrier.

This test should be made available to you before you reach the ten-week mark of your pregnancy. The examination must be finished as quickly as possible.

If you discover that you are a carrier of the condition, both partners will have the opportunity to undergo further testing to determine whether or not your unborn child will be impacted by it.

Why do fertility experts suggest getting screened for SCD and thalassemia early in pregnancy?

It is possible to find out via testing whether or not you are a carrier of the sickle cell or thalassemia gene and, if so, whether or not you are likely to pass that gene on to your child.

• Genes are passed down in pairs, so for each trait we acquire, we have one gene inherited from the mother and one inherited from our father.
• People can only develop SCD or thalassemia if they inherit two rare hemoglobin genes—one from their mother and one from their father.
• Carriers are sometimes referred to as people with a character because they have inherited at least one uncommon gene.
• Carriers are not impacted by the illness and are otherwise healthy.
• Carriers of sickle cell anemia are more likely to have complications during procedures that reduce the amount of oxygen their bodies get, such as those requiring general anesthesia.
• Every person who has the gene may potentially pass it on to their offspring.

When each parent is a carrier

Each time a couple is expecting a child, and both of them are carriers, there is:

• There is a 1 in 4 probability of the kid not having the condition or carrying it.
• There is a 2 in 4 likelihood that the infant will be a carrier.
• There is a 1 in 4 possibility that the infant will have the illness.

Other genetic disorders

Amniocentesis and CVS can also determine the risk of cystic fibrosis and Tay-Sachs disease.

A genetic flaw in a child's DNA results in Tay-Sachs disease, which prevents the nerves from functioning normally. A kid can only acquire it when both parents have the defective gene. The parents are often considered "carriers" since they lack symptoms themselves.

Cystic fibrosis (CF) is a hereditary condition brought on by a faulty gene that may be handed down through the generations. The cells that generate sweat, digestive fluids, and mucus are impacted by cystic fibrosis. These produced fluids are often slick and thin. But with, CF patients are thick and sticky.