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A REVOLUTIONARY NON-INVASIVE PRENATAL TEST
An advanced non-invasive prenatal test (NIPT) that offers an in-depth screening of the entire fetal coding genome (exome). By analyzing circulating cell-free fetal DNA (cfDNA) isolated from a maternal blood sample, PrenatalGenome provides a comprehensive evaluation of genome-wide chromosomal abnormalities and severe genetic disorders in the fetus. This cutting-edge approach delivers unmatched accuracy and detection capabilities compared to conventional NIPTs.
During pregnancy, the placenta releases DNA fragments into the maternal bloodstream via a physiological process known as "apoptosis", starting from the 5th week of gestation. The quantity of this DNA, also named circulating cell-free fetal DNA, increases as the pregnancy progresses, reaching levels sufficient for reliable analysis by the 10th week, providing valuable insights into the fetus's health.
THE MOST ADVANCED AND COMPREHENSIVE NIPT
Traditional NIPT tests are limited by their low resolution to detecting fetal aneuploidies and structural chromosomal abnormalities. PrenatalGenome marks a significant technological advancement over conventional NIPT. In addition to identifying common and rare fetal aneuploidies, deletions, duplications, and microdeletion/ microduplication syndromes, it screens for approximately 7,000 clinically recognized severe genetic diseases, both inherited and de novo. This is achieved through high-resolution sequencing of the entire protein-coding fetal genome (exome), covering over 20,000 genes. The PrenatalGenomePlus screening option also includes a carrier screening test for both parents to assess the carrier status of gene mutations related to ~7000 genetic diseases.
THE NEXT LEVEL IN NON-INVASIVE PRENATAL TESTING
24
CHROMOSOMES
ANEUPLOIDY SCREENING
Screening for common and rare fetal aneuploidies, segmental deletions and duplication § across the whole fetal genome, providing karyotype-level insight.
§Segmental detetions and duplications >7 Mb
> 130
MICRODELETION / MICRODUPLICATION SYNDROMES
as low as a 1 Mb
∼ 7.000
INHERITED GENETIC DISEASES AND GENETIC DISEASES OF DE NOVO ORIGIN
∼ 20.000
GENES
Over 20,000 protein-coding genes make up the exome.
Screening Levels
A GROUNDBREAKING TECHNOLOGY
FOR REVOLUTIONARY SCREENING
Utilizing the advanced deep whole exome sequencing technology⁵⁻⁶, combined with sophisticated bioinformatic analysis using a proprietary algorithm, enables PrenatalGenome enables a comprehensive studyof the fetal karyotype and the screening of thousands of severe inherited or de novo genetic diseases in a single analysis. This level of detail was previously achievable only through invasive prenatal diagnostic methods.
6. Miceikaitė I, Hao Q, Brasch-Andersen C, et al. Comprehensive Noninvasive Fetal Screening by Deep Trio-Exome Sequencing. N Engl J Med. 2023;389:2017-2019.
The high resolution of the test allows for a low limit of detection (LOD)
highly accurate at
1%
of Fetal Fraction
TEST REPORT
The test result may be negative, indicating that no chromosomal anomalies or genetic diseaseswere detected in the fetus, within the limits of the methodology used. In this case, thepregnancy can proceed without futher follow up.
In some cases, the test result may be positive, indicating an higher risk for a chromosomal abnormality or a genetic disease in the fetus. Such instances require follow-up with invasive prenatal diagnostic techniques (amniocentesis or chorionic villus sampling) to confirm the findings.
Follow-Up for Positive Results
Amniocentesis or chorionic villus sampling to confirm the detected chromosomal anomaly or genetic disease.
Complimentary services
- Refund in cases of entirely inconclusive test results
- Free Pre- and Post-test genetic counseling
How to perform the test
How to perform the test
Samples required
Samples required
INDICATION FOR TESTING
A test suitable for every pregnancy
PrenatalGenome is a test suitable for a wide range of pregnancies, providing the most appropriate solution for every need: single or twin pregnancy, natural conception or assisted reproduction, or couples with or without a family history of genetic conditions.
Pregnant women
under and over 35 years of age
Situations where
invasive prenatal testing is contraindicated
Singleton and twin pregnancies, whether naturally conceived or through assisted reproductive technologies
Pregnancies requiring risk assessment forgenetic diseases or with with abnormal ultrasound findings
Family history of chromosomal aneuploidyor genetic conditions
Couples where one partner is a balanced chromosomal translocation carrier or Couples who are genetic disease carriers
PrenatalGenome is recommended for all types of pregnancies, providing tailored solutions forvarious needs, from singleton or twin pregnancies to those conceived naturally or through IVF. It isparticularly valuable for couples with a history of genetic diseases and is also indicated forpregnancies without specific a priori risks.
WHY CHOOSE
GENOMICA is recognized as one of the most advanced molecular diagnostics laboratory in Europe, both for the state-of-the-art instruments and technologies, as well as for its high quality standards. With a comprehensive portfolio of over 10.000 genetic tests, GENOMICA is able to satisfy increasingly specialised requests in the field of molecular genetics, providing physicians and their patients with innovative and highly specialised diagnostic solutions for any clinical need.
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