LABORATORY
Fetal DNA
The test can be performed at our facility and must be booked and performed, according to the guidelines, at certain times during the pregnancy.
We invite you to REQUEST MORE INFORMATION or BOOK A CONSULTATION by calling 041 5237870.
OMNIPT
Free DNA Prenatal Screening
110 chromosomal diseases with clinical interpretation
27 monogenic diseases with de novo onset
FREE FETAL DNA
By sequencing the entire genome with next-generation technologies (Massively Parallel Sequencing), it is possible to analyze cell-free fetal DNA contained in maternal plasma and identify early fetal anomalies associated with a large number of genetic syndromes.
TECHNOLOGY MAKES THE DIFFERENCE
The OMNIPT methodology, through whole-genome analysis and advanced bioinformatics analyses, provides highly accurate results and a wider range of detectable anomalies: trisomies, sex chromosome aneuploidies, deletion/duplication syndromes affecting the entire chromosome set, and monogenic diseases.
OMNIPT is an expanded prenatal test that allows the detection of 137 genetic diseases not linked to hereditary transmission.
These are diseases that appear for the first time ("de novo") in a family member. OMNIPT is performed on a maternal peripheral blood sample, collected after the 10th week of gestation (by the 24th). Within a few days, DNA is extracted from the plasma, sequenced, and analyzed using specific calculation algorithms.
PRENATAL SCREENING FOR CHROMOSOMAL DISORDERS
OMNIPT is the most complete and accurate cell-free DNA prenatal screening test for the evaluation of chromosomal abnormalities.
The test is able not only to detect 110 fetal chromosomal abnormalities, but also to provide the relevant clinical interpretation.
PRENATAL SCREENING FOR MONOGENEIC DISEASES
OMNIPT can detect up to 27 de novo onset autosomal dominant monogenic diseases in 18 different genes, with a sensitivity and specificity greater than 99%.
INDICATIONS
- All single pregnancies (including those resulting from homologous assisted fertilization)
ADVANTAGES
- It is based on a simple maternal blood sample
- It is performed after the 10th week of gestation (within the 24th)
- It can detect 110 chromosomal diseases with relative clinical interpretation
- It can detect 27 monogenic diseases with related clinical interpretation
RELIABILITY
- The only test in the world capable of detecting 110 chromosomal and 27 monogenic diseases with relative clinical interpretation
- A clinical study of over 146.958 women makes it by far the most validated fetal DNA test for trisomies.
- More than 5 million tests performed worldwide
- Sensitivity greater than 99% for Trisomies 21, 18 and 13
- Sensitivity greater than 90% for the detection of deletions and duplications,
even sub-microscopic (up to 3Mb) - Sensitivity and specificity greater than 99% for monogenic diseases
ULTRANIPT110
Free DNA Prenatal Screening
110 chromosomal abnormalities with clinical interpretation
EXPANDED PRENATAL SCREENING
By sequencing the entire genome with next-generation technologies (Massively Parallel Sequencing), it is possible to analyze cell-free fetal DNA contained in maternal plasma in just a few days and identify any fetal chromosomal abnormalities (even very small ones) early.
TECHNOLOGY MAKES THE DIFFERENCE
Unlike the “targeted sequencing” methods used for some older-generation NIPT tests, or other cost-effective solutions lacking adequate clinical validation, the Ultranipt methodology, through whole-genome analysis and advanced bioinformatics analyses, provides highly accurate results and a wider range of detectable abnormalities: trisomies, sex chromosome aneuploidies, and deletion/duplication syndromes affecting the entire chromosome set.
ULTRANIPT110 It is the most complete and accurate cell-free DNA prenatal screening test for the evaluation of fetal chromosomal abnormalities. The test can not only detect 110 chromosomal abnormalities but also provide the corresponding clinical interpretation.
The test is performed on a sample of maternal peripheral blood, taken after the 10th week of gestation.
The DNA is sequenced and analyzed using specific computing algorithms that allow the search for chromosomal abnormalities across the entire genome.
With Ultranipt, millions of DNA fragments are sequenced and then compared to reference values to obtain an accurate result.
Any anomaly may be detected, even if it consists of microscopic defects in the structure of the chromosomes analyzed.
THE WORLD'S LARGEST VALIDATION
ULTRANIPT boasts the largest study ever published regarding a prenatal screening test on fetal DNA.
The accuracy of ULTRANIPT has been verified by comparing the results of tests performed on 112.000 pregnant women with those of prenatal (or birth) diagnostic assessments. No other test in the world can boast validation data based on such a large cohort.
The data obtained confirmed the test's ability to detect trisomies 21, 18, and 13 with a sensitivity of 99,17%, 98,24%, and 100%, respectively. The probability of a false-positive result emerged from the study was less than 0,05%, ensuring that the number of women undergoing unnecessary invasive diagnostic procedures is significantly reduced.
ADVANTAGES
- It is based on a simple maternal blood sample
- It can be performed starting from the 10th week of gestation
- Includes fetal sex determination
RELIABILITY
- The only test in the world capable of detecting 110 chromosomal abnormalities with relative clinical interpretation
- A clinical study of over 146.958 women makes it by far the most validated of fetal DNA tests.
- More than 5 million tests performed worldwide
- Sensitivity greater than 99% for Trisomies 21, 18 and 13
- Sensitivity greater than 90% for the detection of deletions and
duplications, even sub-microscopic ones (up to 3Mb)
GTEST
Non-invasive prenatal screening of the entire chromosomal set
Illumina's most innovative technology for DNA extraction, next-generation sequencing, and bioinformatic data analysis.
The G-Test is based on the presence of cell-free DNA of fetal origin in maternal plasma.
ACCURACY
Trisomies 21,18,13
Sensitivity > 99,99%
Specificity > 99,99%
WHOLE GENOME
Sensitivity > 95,50%
Specificity > 99,34%
The use of high-resolution paired-end sequencing and specific bioinformatics algorithms makes the Gtest reliable, even in the presence of a low fetal fraction.
THE WORLD'S LARGEST VALIDATION
ULTRANIPT boasts the largest study ever published regarding a prenatal screening test on fetal DNA.
The accuracy of ULTRANIPT has been verified by comparing the results of tests performed on 112.000 pregnant women with those of prenatal (or birth) diagnostic assessments. No other test in the world can boast validation data based on such a large cohort.
The data obtained confirmed the test's ability to detect trisomies 21, 18, and 13 with a sensitivity of 99,17%, 98,24%, and 100%, respectively. The probability of a false-positive result emerged from the study was less than 0,05%, ensuring that the number of women undergoing unnecessary invasive diagnostic procedures is significantly reduced.
INDICATIONS
- Singleton and twin pregnancies (including those resulting from heterologous fertilization)
ADVANTAGES
- It can be performed starting from the tenth week of gestation
- Results available within 5 days of receiving the blood sample for any testing option
- Sensitivity and specificity for trisomies 21, 18 and 13 greater than 99,9%
- Specificity greater than 99,3%, for any analysis option
COLLECTION AND TRANSPORT
- Maternal peripheral blood sampling can be performed starting from the 10th week of gestation
- The blood is collected in compliance with the UN3373 regulation, and sent to the Bioscience Genomics laboratories, where all the analysis phases are carried out, according to a rigorous CE-IVD certified protocol.
Credits