Non-invasive prenatal genetic testing

Non-invasive fetal chromosomal abnormality detection technology

What is Non-Invasive Prenatal Testing (NIPT)?

Non-Invasive Prenatal Testing (NIPT) is a non-invasive technique for detecting fetal chromosomal abnormalities, distinct from traditional invasive methods such as chorionic villus sampling or amniocentesis, which carry a risk of miscarriage.

During pregnancy, cell-free fetal DNA crosses the placenta into the maternal bloodstream. Using next-generation DNA sequencing combined with bioinformatics, this fetal DNA is analyzed to calculate the risk of chromosomal abnormalities (e.g., Down syndrome) in the fetus. This method poses no risk of miscarriage and boasts an accuracy rate exceeding 99%, significantly reducing the likelihood of misdiagnosis.

The American College of Obstetricians and Gynecologists (ACOG) has endorsed non-invasive prenatal genetic testing as a recommended component of prenatal screening. NIPT also screens for various microdeletions and microduplications—genetic alterations associated with syndromes whose prevalence may exceed that of Down syndrome. These microdeletions or microduplications, occurring on different chromosomes, result in distinct genetic disorders that often impact a newborn’s physical and cognitive development, with no existing cures.

NIPT primarily screens for three major chromosomal disorders:

  1. T21 (Trisomy 21) – Down syndrome

  2. T18 (Trisomy 18) – Edwards syndrome

  3. T13 (Trisomy 13) – Patau syndrome

  1. Pregnant women who wish to avoid the miscarriage risk associated with invasive procedures.

  2. Pregnant women identified as high-risk for Down syndrome through screening.

  3. Individuals with a personal or family history of chromosomal abnormalities.

  4. Women who have undergone IVF or experienced recurrent miscarriages.

  5. Pregnant women seeking high-accuracy prenatal Down syndrome screening.

  1. Safe & Non-Invasive

  2. No Risk of Miscarriage

  3. Comprehensive Screening

  4. Fast & Convenient

  5. Rapid Results (approximately 3-5 working days)

  6. Early Detection (available from 9 weeks of pregnancy)

  7. Early Pregnancy Testing

  8. Reports Issued by Hong Kong-Registered Medical Laboratories – Assured Confidence