Beta Thalassemia Prenatal Diagnosis

Beta Thalassemia Prenatal Diagnosis test detects 97-99% of disease-causing as well as rare mutations in the HBB gene.

• To detect and diagnose beta thalassemia in unborn babies • To help parents make informed decisions about their pregnancy, assess the risk of passing on the disease, and plan for appropriate medical intervention or treatment, if necessary.

Beta Thalassemia Prenatal Diagnosis is recommended under the following circumstances: • if one or both parents are known carriers of beta thalassemia • if there is a family history of beta thalassemia • if there is a previous child with beta-thalassemia • if either parent has a high risk of being a carrier based on their ethnic background • if prenatal screening tests indicate a high risk of having a baby with beta thalassemia

Abnormal results suggest the presence of mutations associated with beta thalassemia.

During the test, a sample of amniotic fluid or chorionic villus tissue is collected from the mother. A blood sample is also collected from the mother. The samples are sent to the laboratory for testing.

• Provide a duly signed consent form as per PCPNDT guidelines, including a sample forwarding doctor's covering letter and Form G (for invasive techniques). • Ensure that clinical indication and family history information is provided. • Follow any specific instructions provided by your healthcare provider regarding fasting, medication, or other preparations. • Inform your doctor if you have any specific requirements.

• Complete Blood Count (CBC): This test measures the levels of different components in your blood and helps assess the severity of beta thalassemia. • Haemoglobin Electrophoresis: This test identifies abnormal types of haemoglobin, which can aid in the diagnosis and classification of beta thalassemia.

24-hour urine 5-hydroxyindoleacetic acid test or 24-hour urine 5-HIAA test

Beta thalassemia is an inherited blood disorder characterised by reduced or absent production of beta-globin protein, which is a component of haemoglobin. It leads to inadequate red blood cell production and can cause anaemia.