Expanded Prenatal Screening for Broader Genetic Insights
Comprehensive screening for a wider range of fetal genetic conditions
DNA GTx’s NIPT Standard analyzes fetal cell-free DNA (cfDNA) from maternal blood to screen for multiple autosomal aneuploidies, sex chromosome aneuploidies, and selected copy number variations (CNVs). Additionally, this test provides determination of fetal sex. Offering a broader genetic overview than basic NIPT, it supports early risk assessment and empowers expectant parents and clinicians to make informed prenatal care decisions.
Who is this Test for?
- Expectant parents seeking a more detailed genetic picture of their baby’s health
- Those wanting to know the baby’s sex early
- Individuals with increased risk factors, such as advanced maternal age or abnormal ultrasound findings
- Parents looking to make informed decisions about follow-up care or testing
What it Screens for
- Autosomal Aneuploidies:
Trisomy 21 (Down syndrome)
- Down syndrome occurs when there's an extra copy of chromosome 21, leading to characteristic physical features and varying degrees of developmental delay.
Trisomy 18 (Edwards syndrome)
- Edwards syndrome occurs when there is an extra chromosome 18, leading to serious health challenges and growth delays.
Trisomy 13 (Patau syndrome)
- Patau syndrome occurs when there is an extra chromosome 13, resulting in serious health challenges affecting growth, development, and organ function.
Trisomy 9
- Trisomy 9 is a rare chromosomal condition caused by an extra copy of chromosome 9, associated with growth restriction, developmental delays, and multiple congenital anomalies.
Trisomy 16
- Trisomy 16 occurs when there's an extra chromosome 16, often causing early pregnancy loss. Mosaic forms may allow development but can lead to growth and health complications.
Trisomy 22
- Trisomy 22 occurs when there's an extra chromosome 22, often leading to early miscarriage. Mosaic forms may allow growth with health complications.
- Sex Chromosome Aneuploidies:
- Monosomy X (Turner syndrome, XO)
- Triple X syndrome (XXX)
- Klinefelter syndrome (XXY)
- XYY syndrome
Monosomy X (Turner Syndrome)
- Monosomy X occurs when one X chromosome is missing in females, leading to short stature, infertility, and possible heart or kidney issues. Some cases present in mosaic form with milder features.
Triple X Syndrome
- Triple X Syndrome occurs when there's an extra X chromosome, often causing taller stature and mild learning or developmental differences in females.
Klinefelter Syndrome
- Klinefelter Syndrome occurs when there''s an extra chromosome, often causing taller stature, reduced fertility, and mild learning differences in males.
XYY Syndrome
- XYY Syndrome occurs when there's an extra Y chromosome, causing taller stature and mild learning or developmental differences.
- Copy Number Variations (CNVs):
- 8 types of clinically significant microdeletions and microduplications
- Fetal Sex:
- Male or female determination
Key benefits
- Minimally Invasive & Safe: Requires only a maternal blood sample, eliminating risks of invasive diagnostic procedures
- Expanded Genetic Coverage: Screens for a wider range of chromosomal abnormalities beyond the common trisomies
- Early Detection: Can be performed from 10 weeks of pregnancy for timely genetic insights
- Accurate Fetal Sex Determination: Provides reliable information on fetal sex, aiding parental planning
- Helps Guide Prenatal Care: Supports informed decision-making and reduces unnecessary invasive tests
Turn Around Time
- 2 weeks
How it Works
Step 1: Maternal Blood Sample Collection
- A blood sample is taken from the expectant mother.
- This sample contains cfDNA from both mother and baby.
Step 2: cfDNA Extraction
- The cfDNA is carefully separated from the rest of the blood.
- These tiny DNA fragments can reveal genetic changes or risks.
Step 3: Library Preparation
- The cfDNA is prepared so it can be read by our sequencing machines.
- We add special tags and focus on the most important parts of your cfDNA.
Step 4: Whole Genome Sequencing
- Advanced sequencing reads the entire genome at high resolution.
- Provides a comprehensive view of genetic information from cfDNA.
Step 5: Data Analysis
- Our proprietary software (D-KRYPT) helps us understand what the DNA changes mean.
- The results are derived from trusted medical databases.
Step 6: Personalized Patient Report
- You got a clear, easy-to-read report with the most important findings.
- Your doctor uses the report to guide clinical decisions and care during pregnancy.
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Deliver Broader Prenatal Insights with Confidence
Partner with us to expand your prenatal care offering and give expectant families the clarity they deserve.
*All information is handled with strict confidentiality.
Get a Complete Picture of Your Baby’s Health
It’s safe, accurate, and risk-free for both mother and baby, helping you make informed decisions about follow-up care or testing.
*All information is handled with strict confidentiality.
