Test Catalog

Test ID: NIPST    
Cell-Free DNA Prenatal Screen, Autosomal Trisomy and Sex Chromosome Aneuploidy

Useful For Suggests clinical disorders or settings where the test may be helpful

Noninvasive screening for aneuploidies of chromosomes 13, 18, 21, and sex chromosomes X and Y in pregnancies

Genetics Test Information Provides information that may help with selection of the correct genetic test or proper submission of the test request

This is noninvasive prenatal screening for aneuploidies in pregnancies.

 

Prior Authorization is available for this assay; see Special Instructions.

Highlights

This is a screening test for fetal aneuploidy for patients that are pregnant.

 

Previously published data using similar methods indicates that this test is expected to have an approximate positive predictive value of 94% for trisomy 21 in high-risk populations. Positive predictive value is lower for the detection of trisomy 18 (60%), and lower still for trisomy 13 (44%). For sex chromosome aneuploidies, the positive predictive value is estimated at 38%. Negative predictive value is greater than 99% for trisomy 21, trisomy 18, trisomy 13, and sex chromosome aneuploidies in high-risk populations.

 

Noninvasive prenatal screening is not diagnostic; thus, abnormal results should be confirmed with invasive prenatal diagnostic testing, and a genetic consultation is recommended.

 

A negative result does not ensure an unaffected pregnancy.

Testing Algorithm Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

This test is only available to clients in North and South America.

 

When this test is ordered, additional statistical analysis to determine the percentage of fetal DNA present is always performed.

 

The following algorithms are available in Special Instructions:

-Prenatal Aneuploidy Screening and Diagnostic Testing Options

-High-Risk Pregnancy Based on Abnormal Fetal Malformations: Laboratory Testing Algorithm

Special Instructions Library of PDFs including pertinent information and forms related to the test

Method Name A short description of the method used to perform the test

Whole Genome Sequencing of Plasma Cell-Free DNA

NY State Available Indicates the status of NY State approval and if the test is orderable for NY State clients.

No

Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

cfDNA Prenatal Screen, Trisomy/SCA

Aliases Lists additional common names for a test, as an aid in searching

NIPST
cell free
cfDNA
cffDNA
Monosomy X
Next Gen Sequencing Test
NIPS
NIPT
Noninvasive prenatal screening
Noninvasive prenatal testing
Prenatal screening
Trisomy 13
Trisomy 18
Trisomy 21
XXX
XXY
XYY