MaterniT21 Plus

Casandra

Casandra Test Code MC87790Version 1 (DRAFT)

Performing Lab

Lab Mayo Clinic LabLab Test ID FMT21CPT Code 81420

Clinical Use

Use

The MaterniT21 PLUS test analyzes circulating cell-free DNA extracted from a maternal blood sample. The test is intended for use in pregnant women at increased risk for chromosomal aneuploidies such as trisomy 21, 18, and 13, along with determining the sex of the fetus. It is a non-invasive prenatal screening test that offers valuable information regarding the genetic health of the fetus. This test is not diagnostic but provides insights that could guide further invective testing in a clinical setting. It is significant for pregnancies at increased risk for chromosomal conditions and can guide management through early detection.

Special Instructions

A completed Sequenom Test Requisition form is required for this test. A core option must be marked on the TRF under MaterniT 21 PLUS test. If nothing is indicated by the client, the option 'Core (chr 21, 18, 13, sex)' is marked. This test requires patient information including maternal height, weight, gestational age, and number of fetuses, which affects the accuracy of the analysis.

Limitations

This test is not intended to detect pregnancies at risk for neural tube defects or ventral wall defects. While it is highly accurate, not all chromosomal abnormalities may be detected due to factors such as placental, maternal, or fetal mosaicism. It does not replace the precision of prenatal diagnosis made through procedures like CVS or amniocentesis. Validation data for multiple pregnancies like twin or triplet gestations is limited. A negative test result does not ensure an unaffected pregnancy. Positive results should prompt further genetic counseling and potential confirmatory invasive testing.

Test Details

New York Approved

Methodology

NGS

Biomarkers

The test analyzes circulating cell-free DNA from maternal blood for chromosomal aneuploidies including trisomy 21, 18, 13, and fetal sex determination.