Special Instructions

The following information must be provided with the test request form: patient's date of birth, gestational age, additional patient demographic information: pregnancy type (singleton or multiple), donor egg status and the clinical indications (including advanced maternal age, abnormal ultrasound, history suggestive of increased risk for aneuploidy, positive serum screen, or other indications). Only the Sequenom collection kit PS#116373 can be used for collection.

Limitations

While the results of these tests are highly accurate, discordant results, including inaccurate fetal sex prediction, may occur due to placental, maternal, or fetal mosaicism or neoplasm; vanishing twin; prior maternal organ transplant; or other causes. Cell-free DNA (cfDNA) testing does not replace the accuracy and precision of prenatal diagnosis with CVS or amniocentesis. A patient with a positive or high-risk score test result should be referred for genetic counseling, and tests are not intended to identify pregnancies at risk for neural tube defects or ventral wall defects. cfDNA testing may not accurately identify fetal triploidy, balanced rearrangements, or the precise locations of subchromosomal duplications or deletions. It may be impacted by maternal body mass index (BMI), maternal weight, and maternal systemic lupus erythematosus (SLE).

Biomarkers

LOINC Codes

Result Turnaround Time

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