Approximately one-third of all miscarriages and one in every 300 livebirths is affected by a chromosomal disorder, causing miscarriages and congenital birth defects

During the pregnancy, fetal cell-free DNA (cfDNA) circulates in the maternal blood which can be used for fetal aneuploidy analysis. Non-Invasive Prenatal Testing is a simple, risk-free and an accurate prenatal genetic test that can analyze the baby’s DNA to detect the risk for common Chromosomal abnormalities which can help the couple make informed pregnancy decisions.

Safe – No risks of miscarriages and only maternal blood needed for testing

  •       Reliable – High Detection rate (99%) and low false positive rates (0.05%)
  •       Validated and recommended by International Society of Prenatal Diagnosis
  •       Fast and Accurate

Why NIPT?

As per medical societies, NIPT should be the first line of testing for all pregnancies irrespective of maternal age. It is recommended for the following conditions:

  •       Positive Maternal Serum Marker reports
  •       Advanced maternal age (>30 years)
  •       Family history of chromosomal abnormalities or previous child with a genetic abnormality
  •       History of Recurrent pregnancy loss or infertility

         Aberration in Biophysical Markers like NT, NB

TAT- 15 working days

International Society of Prenatal Diagnosis (ISPD)

ISPD recognizes that NIPT can be helpful as a screening test for women who are at high risk of Trisomy 21 with suitable genetic counseling. A positive test should be confirmed through invasive testing.

Conditions Tested by Redcliffe NIPT

  •       Trisomy 13 (Patau Syndrome) ,18 (Edward Syndrome) and 21 (Down Syndrome)
  •       Fetal Chromosomal Aneuploidies: 22 types of Fetal chromosomal aneuploidies – Covers all Autosomal chromosomes and sex chromosomal abnormalities
  •       Larger deletion/duplication syndrome: 66 types of larger deletion/duplication (>10mb) can be screened
  •       Microdeletion/Duplication Syndrome: 20 types of microdeletion/duplication syndrome with size >5Mb can be detected

Significance of Microdeletions

Besides the common chromosomal aneuploidies(T13,18,21), microdeletions/duplications syndromes have been reported with the serious birth defects and fetal deaths with the prevalence of as low as of 1/4000. Some of these microdeletion/duplications (DiGeorge Syndrome) have the prevalence more than Trisomy 13.

TAT: 10 working days

Trisomies Sensitivity Specificity Positive predictive value Negative predictive rate
Trisomy 13 100 99.96 83.33 100
Trisomy 18 98.24 99 97 100
Trisomy 21 99.1 99.9 97.8 99.99

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