Combined Screening with NIPT (Delfia) with Hemoglobinopathies

Overview

Combined Screening with NIPT (Delfia) with Hemoglobinopathies is a comprehensive prenatal screening package that evaluates the risk of common fetal chromosomal abnormalities and screens parents for inherited hemoglobin disorders. It combines first-trimester maternal serum screening (DELFIA technology), Non-Invasive Prenatal Testing (NIPT), and hemoglobinopathy screening using a maternal blood sample.

Why is this test done?

• Screens for Down syndrome (Trisomy 21)
• Screens for Edwards syndrome (Trisomy 18)
• Screens for Patau syndrome (Trisomy 13)
• Detects common fetal sex chromosome abnormalities (if included)
• Identifies maternal carrier status for hemoglobinopathies such as:
  • Thalassemia
  • Sickle Cell Disease
  • Hemoglobin variants (based on screening method)
• Helps assess pregnancy risk early and supports informed medical decisions.

Who should consider this test?

• Pregnant women during the first trimester
• Women aged 35 years or older
• Pregnancies with abnormal ultrasound findings
• Family history of chromosomal disorders or hemoglobinopathies
• Previous pregnancy affected by a genetic condition
• Couples seeking comprehensive prenatal screening

Sample Required

• Maternal Blood (Serum & EDTA Blood as per laboratory protocol)

Preparation

• No fasting is required.
• Inform your healthcare provider about:
  • Gestational age
  • IVF pregnancy (if applicable)
  • Twin pregnancy
  • Previous organ transplant or blood transfusion
  • Relevant family history

Benefits

• Non-invasive and safe for both mother and baby
• High detection rate for common chromosomal abnormalities
• Early identification of genetic risks
• Screens for inherited blood disorders
• Helps guide further diagnostic testing if required
• Supports personalized prenatal care

When is it recommended?

Typically performed between 11 and 13 weeks + 6 days of pregnancy, depending on your healthcare provider's recommendation.

Note

This is a screening test, not a diagnostic test. A high-risk result should be confirmed with diagnostic procedures such as Chorionic Villus Sampling (CVS) or Amniocentesis, as advised by your obstetrician or fetal medicine specialist.