NIPT in India: Advanced Non-Invasive Prenatal Genetic Screening

Yaazh Xenomics offers highly accurate **Non-Invasive Prenatal Testing (NIPT)** in India using state-of-the-art Next-Generation Sequencing (NGS) technology. Our NIPT test analyzes cell-free fetal DNA (cffDNA) circulating in maternal blood to screen for common chromosomal aneuploidies and select microdeletions with exceptional sensitivity and specificity.

What is NIPT (Non-Invasive Prenatal Testing)?

NIPT is a screening test performed as early as 10 weeks of pregnancy. It analyzes fragments of fetal DNA present in the mother’s bloodstream (cell-free fetal DNA) without any risk to the fetus. Unlike invasive procedures such as amniocentesis or CVS, NIPT is completely safe and carries no risk of miscarriage.

Our NIPT Technology & Methodology

Yaazh Xenomics utilizes a robust NIPT technology and methodology, characterized by several key features. These include a targeted NGS-based approach with deep sequencing coverage, analysis of chromosomes 13, 18, 21, X, and Y, and optional microdeletion screening for conditions like 22q11.2, 1p36, Angelman/Prader-Willi, and Cri-du-chat. Our process also incorporates fetal fraction estimation with quality control metrics, an advanced bioinformatics pipeline with proprietary algorithms, and delivers high sensitivity (>99.9% for Trisomy 21) and specificity (>99.9%).

• Targeted NGS-based approach with deep sequencing coverage
• Analysis of chromosomes 13, 18, 21, X, and Y
• Optional microdeletion screening (22q11.2, 1p36, Angelman/Prader-Willi, Cri-du-chat)
• Fetal fraction estimation with quality control metrics
• Advanced bioinformatics pipeline with proprietary algorithms
• High sensitivity (>99.9% for Trisomy 21) and specificity (>99.9%)

Conditions Screened by Our NIPT Test

Our NIPT test screens for a comprehensive range of conditions, categorized into core aneuploidy screening and an optional microdeletion panel. Core aneuploidy screening includes Trisomy 21 (Down Syndrome), Trisomy 18 (Edwards Syndrome), Trisomy 13 (Patau Syndrome), and various Sex Chromosome Aneuploidies (such as Turner, Klinefelter, Triple X, XYY). The optional microdeletion panel covers conditions like 22q11.2 Deletion Syndrome (DiGeorge/Velocardiofacial syndrome), 1p36 Deletion Syndrome, Angelman/Prader-Willi Syndrome (15q11–q13), and Cri-du-chat Syndrome (5p deletion).

• Trisomy 21 (Down Syndrome)
• Trisomy 18 (Edwards Syndrome)
• Trisomy 13 (Patau Syndrome)
• Sex Chromosome Aneuploidies (Turner, Klinefelter, Triple X, XYY)

Optional Microdeletion Panel

• 22q11.2 Deletion Syndrome (DiGeorge/Velocardiofacial syndrome)
• 1p36 Deletion Syndrome
• Angelman/Prader-Willi Syndrome (15q11–q13)
• Cri-du-chat Syndrome (5p deletion)

NIPT Workflow at Yaazh Xenomics

1. Pre-Test Genetic Counselling – Detailed discussion of test limitations, sensitivity, and clinical implications
2. Maternal Blood Collection – 10 ml peripheral blood in specialized cfDNA tubes (from 10 weeks gestation)
3. Cell-Free DNA Extraction & Library Preparation
4. Targeted Next-Generation Sequencing – Deep sequencing of selected chromosomal regions
5. Advanced Bioinformatics Analysis – Proprietary algorithms for fetal fraction estimation and aneuploidy detection
6. Clinical Reporting & Post-Test Counselling – Clear, easy-to-understand report with genetic counsellor support

Clinical Performance

• Sensitivity for Trisomy 21: >99.9%
• Specificity for Trisomy 21: >99.9%
• Positive Predictive Value significantly higher than traditional serum screening
• Low no-call rate due to robust fetal fraction estimation

Who Should Consider NIPT?

• All pregnant women (as a primary screening test)
• Women with advanced maternal age (≥35 years)
• High-risk pregnancies identified by first-trimester combined screening
• History of previous chromosomal abnormality
• Parental balanced translocation carriers

Advantages of NIPT at Yaazh Xenomics

• Non-invasive – Zero risk to mother or fetus
• Early detection – From 10 weeks of gestation
• Higher accuracy than traditional first and second trimester screening
• Advanced bioinformatics with low false positive rate
• Fast turnaround time (7–14 working days)
• Affordable pricing with transparent packages

Yaazh Xenomics Pvt Ltd
Module No. 103, TICEL BIOPARK Phase – III,
Maruthamalai Road, Coimbatore – 641046, Tamil Nadu, India

Phone: +91 99431 32020 | +91 95002 45454
Email: info@yaazhxenomics.com