NIPT

NIPT

Overview	Indications	Applications	Reporting/Features
Sample Requirement	Methodology	Limitations	Further Test

Overview

Indication

Application

Reporting/Features

Sample Requirement

Methodology

Limitations

Further Test

Overview
Indications
Applications

Noninvasive prenatal testing (NIPT), sometimes called noninvasive prenatal screening (NIPS), is a maternal blood test. This test is able to detect small fragments of DNA from the baby, in the mother's blood. NIPT is most often used to look for chromosomal disorders that are caused by the presence of an extra or missing copy (aneuploidy) of a chromosome. NIPT primarily looks for Down syndrome (trisomy 21, caused by an extra chromosome 21), trisomy 18 (caused by an extra chromosome 18), trisomy 13 (caused by an extra chromosome 13), and extra or missing copies of the X chromosome and Y chromosome (the sex chromosomes). The accuracy of the test varies by disorder

Increased risk from prior screening.
Advanced maternal age
Maternal anxiety
Previously affected pregnancy
Increased NT value
History of BOH

NIPT is a simple, safe, and non-invasive prenatal screening test
No fetal risk involved
It has high sensitivity, specificity, and positive predictive value
It has a certain predictive value for other autosomal aneuploidies, sex chromosomal aneuploidies

Reporting/Features

The highly praised advantage of NIPT screening is that results can provide early hints on the detection of fetal trisomies and gonosomal numerical aberrations as early as the 10th week of gestation onward, without any need for invasive procedures, such as amniocentesis or alternatives

Sample Requirement

2-3ml blood

Methodology

Beyond performance, VeriSeq NIPT Solution v2 offers coverage across the entire fetal genome, with the option to screen for aneuploidy for all chromosomes.

Limitations

The NIPT performance showed 100% sensitivity and 99.9% specificity for the detection of trisomy 21, 92.9% sensitivity and 100% specificity for trisomy 18, and 100% sensitivity and 99.9% specificity for trisomy 13.
The proportion of cfDNA in maternal blood that comes from the placenta is known as the fetal fraction. Generally, the fetal fraction must be above 4 percent, which typically occurs around the 10th week of pregnancy. Low fetal fractions can lead to an inability to perform the test or a false negative result.

Further Test

If NIPT tests show a high risk for aneuploidy confirmation by diagnostic tests is recommended.

NIPT

Reporting/Features

Sample Requirement

Methodology

Limitations

Further Test

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