Non-Invasive Prenatal Screening (NIPT)

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HomeConditions & TreatmentsTreatments Non-Invasive Prenatal Screening (NIPT) Information Conditions Centers

Non-invasive prenatal screening test for Down’s syndrome and other serious genetic conditions

What is the NIPT test?

The NIPT test is a non-invasive prenatal test (NIPT) for pregnant women which estimates the risk of a fetus having Down syndrome or some other genetic diseases. The NIPT test is an advanced screening test that is carried out on a small maternal blood sample. Pregnant women can expect test results from their healthcare provider within 10 days from sample receipt.

WHAT DOES THE NIPT TEST SCREEN FOR?

  1. Screening for Trisomy 13, trisomy18, and trisomy 21
  2. Screening for other chromosome aneuploidy includes chromosomes 1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 14, 15, 16, 17, 19, 20 and 22.
  3. Screening for Sex chromosome aneuploidy
  4. Sex determination (optional)
  5. Screening for DiGeorge syndrome (22q11.2 deletion syndrome): A chromosomal disorder that causes heart defects, poor immune system function, cleft palate, and delayed development.
  6. Screening for other 91 microdeletion/microduplication syndromes (in total 92 types, including DiGeorge syndromes) for NIPT Plus
If fetal sex determination is requested, the accuracy is greater than 99%. In rare cases a “sex determination failure” result may be reported if there is insufficient data to support the sex determination analysis. A “sex determination failure” does not impact the trisomy result.

ADVANTAGES OF THE NIPT TEST AT BUMRUNGRAD HOSPITAL

Safe Non-invasive with no risk of miscarriage.

Fast Provides results within 7-10 days from sample receipt.

Accurate Greater than 99% detection of trisomy conditions and fetal sex determination.

Simple Uses a simple maternal blood sample.

Reliable quality The NIPT test is provided by high quality laboratory at Bumrungrad hospital using the CE-IVD marked test.

HOW DOES IT WORK?

Non-Invasive Prenatal Testing (NIPT) is a non-invasive test for pregnant women which estimates the risk of a fetus having chromosomal abnormalities. The non-invasive prenatal testing (NIPT) is an advanced screening test using next - generation sequencing technology that is carried out on a small maternal blood sample. During pregnancy, the placenta leaks cell-free DNA (deoxyribonucleic acid) which circulates in the maternal bloodstream. As a result, a maternal blood sample contains a mixture of fetal-placental and maternal circulating cell-free DNA. The non-invasive prenatal testing (NIPT) directly measures the amount of this cell-free DNA and can detect chromosomal abnormalities.

People usually have 23 pair of chromosomes or 46 chromosomes (23 from mother and 23 from father). There are many different types of chromosome abnormalities such as numerical abnormalities (trisomies, monosomies) structural abnormalities (microdeletions, translocations) and mosaicism.

Some fetal chromosome abnormalities may relate to advanced maternal age, but may occur as a result of errors in cell division, inheritance of abnormalities or by multiple factors

NIPT-03.jpg

WHO CAN HAVE THE NIPT TEST?

  • Pregnant women with a gestational age of 10 weeks or greater
  • Women with singleton or twin pregnancies
  • Women who have conceived through in vitro fertilization (IVF) utilizing donor eggs or gestational surrogacy. In cases involving donor eggs, the age of the egg donor at the time of retrieval should be documented

UNSUITABLE IF THE MOTHER HAS:

  • Women with a history of cancer
  • Women with known pre-existing chromosomal abnormalities
  • Women who have recently undergone immunosuppressive therapy or stem cell transplantation
  • Women who have received organ transplants
  • Women who have received blood transfusion
  • Women who have a vanishing twin pregnancy

HOW ARE THE NIPT RESULTS REPORTED?

  • Low Risk : This result suggests a low probability of the fetus having the chromosomal abnormalities included in the screening panel.
  • High Risk : This result indicates a higher probability of the fetus having one or more of the chromosomal abnormalities being screened for. Further diagnostic testing, such as amniocentesis or chorionic villus sampling (CVS), is recommended to confirm or rule out these possibilities.
  • No Result : In rare instances, insufficient fetal DNA may be detected in the maternal blood sample, resulting in an inconclusive test. In such cases, additional blood may be required for further analysis.
  • Sex Determination Failure : This means that there was insufficient data to determine the sex of the fetus. However, this does not impact the accuracy of the screening results for other chromosomal abnormalities.
Last modify: March 07, 2025

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