Combined Screening (DELFIA) with Hemoglobinopathies

Test Overview

Combined Screening (DELFIA) with Hemoglobinopathies is an advanced prenatal screening test performed during the first trimester of pregnancy. It evaluates the risk of chromosomal abnormalities in the fetus and simultaneously screens for inherited blood disorders known as hemoglobinopathies.

This screening combines maternal blood markers, ultrasound findings, and hemoglobin analysis to provide an early assessment of fetal health and inherited genetic conditions.

Why This Test is Done

This test helps in:

• Early screening for chromosomal abnormalities
• Detection of hemoglobin disorders in parents
• Assessing pregnancy-related genetic risks
• Supporting informed prenatal care decisions
• Identifying high-risk pregnancies early

Conditions Screened

Chromosomal Abnormalities

• Down Syndrome (Trisomy 21)
• Edwards Syndrome (Trisomy 18)
• Patau Syndrome (Trisomy 13)

Hemoglobinopathies

• Thalassemia
• Sickle Cell Disease
• Hemoglobin Variants
• Inherited anemia disorders

What is Measured

The screening may include:

• PAPP-A (Pregnancy Associated Plasma Protein-A)
• Free Beta hCG
• Nuchal Translucency (NT Scan)
• Hemoglobin pattern analysis
• Maternal demographic and clinical data

Sample Required

• Maternal blood sample
• Ultrasound scan findings (NT scan)

Preparation

• No fasting is usually required
• Carry previous pregnancy or genetic reports if available
• Best performed between 11 to 13 weeks + 6 days of pregnancy

Benefits of the Test

• Early and non-invasive prenatal screening
• Helps identify inherited blood disorders
• Supports early medical planning
• Improves prenatal monitoring and counseling
• Provides comprehensive fetal risk assessment

Interpretation

• Low Risk: Reduced probability of chromosomal abnormalities
• High Risk: Further confirmatory testing may be advised
• Abnormal hemoglobin findings may require genetic counseling and partner testing

Recommended For

• Pregnant women in first trimester
• Couples with family history of thalassemia or sickle cell disease
• High-risk pregnancies
• Women with previous pregnancy complications
• Couples planning advanced prenatal care

Important Note

This is a screening test and not a definitive diagnostic test. Abnormal results may require additional confirmatory investigations as advised by your healthcare provider.