Advanced Technology Laboratory, Molecular Diagnostics

New Test: Noninvasive Prenatal Screening for Fetal Aneuploidy

UPDATED 6/3/2020 – This test has been put on hold until further notice. Spectrum Health Laboratory will continue to forward orders for Noninvasive Prenatal Screening to Natera to perform the testing.

Effective May 13, 2020, Spectrum Health Regional Laboratory Molecular Diagnostics Department is pleased to announce the launch of in-house Noninvasive Prenatal Screening for Fetal Aneuploidy through Natera’s Software Licensing program utilizing the Constellation platform.

This non-invasive prenatal test (NIPT) is performed on maternal blood to screen for specific chromosomal aneuploidies in fetus. Cell-free DNA isolated from maternal blood, which contains maternal and placental DNA, is amplified at >13,300 specific loci using a targeted PCR assay and sequenced on Illumina NextSeq instrument. Sequence data is analyzed using Natera’s Constellation software to estimate fetal fraction, and to determine the fetal copy number for chromosomes 13, 18, 21, X and Y, thereby identifying the risk of whole chromosome abnormalities at these locations. Genetic interpretation services are performed by Natera CLIA lab (CLIA# 05D1082992). Conditions screened include trisomy 13 (Patau syndrome), trisomy 18 (Edwards syndrome), trisomy 21 (Down syndrome), and monosomy X (Turner syndrome).

TEST INFORMATION:

Test Name: Noninvasive Prenatal Screening for Fetal Aneuploidy (Epic Code: LAB1230378, Interface Code: 1230378, CPT Code: 8142

 

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