Test Name

PRENATAL CELL-FREE DNA (cfDNA) SCREENING

Aliases

NON-INVASIVE PRENATAL TESTING, NON-INVASIVE PRENATAL SCREENING, NON-INVASIVE PRENATAL ANEUPLOIDY SCREEN, HARMONY, PANORAMA, VERIFI, MATERNIT® 21 PLUS, NIFTY

Abbreviations

NIPT, NIPS

Test Classification

GROUPED TEST

Department

MOLECULAR PATHOLOGY

Sub Department

GENETIC AND HEREDITARY DISORDERS

TAT Category

ELAPSED (CONTINUOUS) TIME

Estimated TAT

14

TAT Units

DAYS

Test Requirements

Specimen must be collected at 10 weeks gestation or greater. Testing will be canceled for specimens collected at less than 10 weeks of gestation. Number of fetuses must be provided (this info is available on the ultrasound report). Testing will be canceled if number of fetuses is not provided. Copy of ultrasound report must be provided. Patient's date of birth, gestational age on the date of collection, pregnancy type (singleton or multiple), and the clinical indications (including advanced maternal age, abnormal ultrasound, history suggestive of increased risk for aneuploidy, positive serum screen, or other indications) must be captured on the test request form. Draw 10 mL whole blood in special Streck/ blood cfDNA tube. Ambient temperature. Test components: 1. Nuclear cfDNA 2. Mitochondrial cfDNA 3. Tumor-derived cfDNA (ctDNA) 4. Fetal cfDNA 5. Microbial cfDNA

Clinical Utility

Non-invasive prenatal testing (NIPT) analyzes cell-free fetal DNA in maternal blood to screen for common chromosomal abnormalities. It primarily detects trisomies, including trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome), and trisomy 13 (Patau syndrome). Some tests also screen for sex chromosome aneuploidies like Turner syndrome (45,X) and Klinefelter syndrome (47,XXY). Advanced versions can detect microdeletions and duplications. NIPT offers high sensitivity and specificity but is a screening test, meaning positive results require confirmation through invasive procedures like chorionic villus sampling (CVS) or amniocentesis. It is most effective in singleton pregnancies.

Last Review

26th Feb 2026