Sickle Cell Anemia Mutation Prenatal Diagnosis

This test detects the presence of the sickle variant in the DNA of a foetus.

• To identify if a fetus has inherited the sickle cell trait or will develop sickle cell anaemia • To provide couples with information about the risk of having a child with sickle cell anaemia • To guide healthcare providers in offering appropriate prenatal care and treatment options • To facilitate early intervention and improve long-term outcomes for affected individuals

This test is recommended when • a couple is known to be carriers of the sickle cell gene, • there is a family history of sickle cell anaemia, • the parents have had previous children with sickle cell disease or trait, or • one or both parents belong to populations with a high prevalence of sickle cell anaemia, such as people of African, Mediterranean, Middle Eastern, or Indian descent.

If the test results indicate the presence of the sickle variant, it means that the foetus has inherited the sickle cell trait or will develop sickle cell anaemia.

Amniotic fluid or chorionic villus sampling is collected during a procedure guided by ultrasound. The samples are then sent to a laboratory for analysis

• Sign a consent form as per PCPNDT guidelines. • Provide your clinical indication and family history. • Inform your doctor if you have any specific requirements.

• Complete Blood Count (CBC) to assess red blood cell indices and other parameters • Haemoglobin Electrophoresis to determine different types of haemoglobin present in the blood • Genetic counselling to provide information, support, and guidance for individuals and couples with a family history or risk of genetic disorders

Sickle Cell Gene Analysis or Sickle Cell DNA Test

Sickle cell anaemia is an inherited blood disorder characterised by abnormal haemoglobin, leading to the production of sickle-shaped red blood cells. These abnormal cells can cause blockages in blood vessels, resulting in pain, organ damage, and other complications.