Non-Invasive Prenatal Testing (NIPT)

Non-Invasive Prenatal Testing (NIPT) is a highly accurate screening methodology that analyzes cell-free fetal DNA (cffDNA) circulating in maternal blood using Next-Generation Sequencing (NGS) technology. By eliminating physical contact with the fetus or the amniotic sac, NIPT completely removes the procedure-related miscarriage risks associated with invasive diagnostic methods (Amniocentesis, CVS), while detecting major chromosomal abnormalities with exceptional precision.

Key Features & Advantages

1. Zero Miscarriage Risk (Non-Invasive): Requires only a simple maternal blood draw, posing zero physical risk to either the mother or the fetus.
2. Early Detection: Can be safely performed as early as the 10th week of gestation, providing early actionable clarity.
3. Superior Accuracy: Delivers >99% sensitivity for detecting major trisomies, particularly Trisomy 21 (Down Syndrome).
4. Minimized False-Positives: Significantly reduces false-positive and false-negative rates compared to traditional first- or second-trimester serum screening.
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NIPT vs. Invasive Diagnostic Methods (Amniocentesis / CVS)

Target Conditions & Clinical Applications

1. Autosomal Trisomies: Screening for Trisomy 21 (Down Syndrome), Trisomy 18 (Edwards Syndrome), and Trisomy 13 (Patau Syndrome).
2. Sex Chromosome Aneuploidies (SCAs): Detection of Turner Syndrome (45,X), Klinefelter Syndrome (47,XXY), Triple X, and XYY syndromes.
3. Microdeletion Panels: Screening for submicroscopic chromosomal copy loss syndromes, such as DiGeorge (22q11.2), Cri-du-Chat, and Angelman/Prader-Willi syndromes.
4. High-Risk Pregnancy Evaluation: Primary advanced screening for pregnancies with advanced maternal age (≥35) or abnormal biochemical serum screening results.

The Nucleus Genetics Advantage: Combining high-depth NGS platforms, advanced fetal fraction quantification algorithms, and professional genetic counseling, we deliver safe, rapid, and trustworthy insights for expectant parents.