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The most advanced non-invasive prenatal test (NIPT)
that uses groundbreaking technologies. Through analysis of circulating cell-free fetal DNA (cfDNA) in maternal blood, it screens for genome-wide chromosomal abnormalities and severe genetic disorders in the fetus, providing unparalleled accuracy and detection compared to other NIPT.
During pregnancy placental trophoblasts, through a physiological process known as "apoptosis", releases DNA fragments in the maternal blood.
This DNA, also named circulating cell-free fetal DNA, increases with advancing of gestational age and, at the 10th week of gestation, reaches a sufficient quantity for a reliably analysis and provides valuable information on the health of the fetus.
SUITABLE TO EVERY PREGNANCY
The test is suitable for every kind of pregnancy: singleton or twin pregnancy, natural conception or IVF derived pregnancy, pregnancy at risk for an inherited genetic disorder or to any pregnancy without a specific prior risk.
Maternal age-related
risks (≥35 years)
Pregnancy at risk for a de novo
or inherited genetic disorder
Singleton or twin pregnancy, IVF derived
or naturally conceived pregnancy
Positive results on
maternal serum screening
Prior pregnancy with
a chromosomal abnormality
Carrier of a balanced
chromosomal translocation
8 SCREENING LEVELS TO MEET THE NEEDS OF EVERY PREGNANCY
Standard tests for screening of common fetal aneuploidies
PrenatalAdvance 3
Aneuploidy Screening on chromosomes 13, 18, 21 and fetal gender determination.
PrenatalAdvance 5
Aneuploidy Screening on chromosomes 13, 18, 21, X, Y and fetal gender determination.
PrenatalAdvance Plus
Aneuploidy Screening on chromosomes 13, 18, 21, X, Y and on chromosomes 9, 16, 22 and fetal gender determination. It also includes screening for 9 common microdeletion syndromes.
Advanced tests for genome-wide screening of fetal chromosomal abnormalities and genetic disorders
PrenatalAdvance Karyo
Screening for aneuploidies and structural chromosomal aberrations (deletions or duplications) accross the fetal genome, providing karyotype-level insight. It includes fetal gender determination.
PrenatalAdvance Karyo Plus
Screening for aneuploidies and structural chromosomal aberrations (deletions or duplications) accross the fetal genome, providing karyotype-level insight. It includes also screening for 50 microdeletion / microduplication syndromes and fetal gender determination.
PrenatalAdvance Genetics
Screening for aneuploidies and structural chromosomal aberrations (deletions or duplications) accross the fetal genome, providing karyotype-level insight. It also includes screening for severe genetic disorders, 26 inherited and 50+ de novo onset, and fetal gender determination. The test includes parental carrier screening.
PrenatalAdvance Genetics Micro
Screening for aneuploidies and structural chromosomal aberrations (deletions or duplications) accross the fetal genome, providing karyotype-level insight. It also includes screening for severe genetic disorders, 26 inherited and 50+ de novo onset, 50 microdeletion / microduplication syndromes and fetal gender determination.
PrenatalAdvance Genetics Plus
Screening for aneuploidies and structural chromosomal aberrations (deletions or duplications) accross the fetal genome, providing karyotype-level insight. It also includes screening for severe genetic disorders, 26 inherited and 50+ de novo onset, 50 microdeletion / microduplication syndromes and fetal gender determination. The test includes parental carrier screening .
COMPARISON OF THE SCREENING OPTIONS
A GROUNDBREAKING TECHNOLOGY ALLOWING FOR A SCREENING TEST THAT IS REVOLUTIONARY
A groundbreaking technology coupled with an advanced bioinformatic analysis allows for detection of both genomewide chromosomal abnormalities and single-gene disorders, providing the most comprehensive information available from a noninvasive prenatal test to date.
A groundbreaking technology coupled with an advanced bioinformatic analysis allows for detection of both genomewide chromosomal abnormalities and single-gene disorders, providing the most comprehensive information available from a noninvasive prenatal test to date.
The high resolution of the test allows for a low limit of detection (LOD):
highly accurate at low cfDNA quantity
TEST CHARACTERISTICS: SUPERIOR ACCURACY AND HIGH QUALITY STANDARDS
Simple
A simple blood sample (8-10 ml)
collected at 10^ weeks of gestation is required
Fast
Turnaround time
of just 3 days
Safe
It is a non-invasive prenatal test,
no risk for the fetus and the mother
Sensitive
Low limit of detection: highly accurate
at low cfDNA quantity (FF:1%)
RELIABLE
Sensitivity and
specificity >99%
COMPREHENSIVE
It offers a level of information previously only available from a fetal karyotype analysis, performed with invasive prenatal diagnosis procedures (amniocentesis and CVS)
COMPLETE
It detects both genome-wide chromosomal abnormalities and single-gene disorders, providing the most comprehensive information available from a noninvasive prenatal test to date
ADVANCED
Groundbreaking technologies
and advanced bioinformatic analysis
CERTIFICATED
CE-IVD marking for instruments,
reagents and analysis algorithm
ITALIAN
Performed in Italy
in our Laboratories
VALIDATED
Clinical validation studies performed
on a wide cohort of pregnant women
GLOBAL
It is used from thousands
of gynecologists worldwide
TEST RESULTS
NEGATIVE
A negative result shows that there is a low risk for a chromosomal abnormality or a genetic disorder in the fetus. A low risk test result greatly reduces the chances that the fetus has a chromosomal abnormalty or monogenic disorder but it cannot guarantee a healthy baby.
POSITIVE
Positive screening result shows that there is a high risk for a chromosomal abnormality or a genetic disorder in the fetus. A patient with a positive test result should be referred for genetic counseling and should always be followed-up with an invasive diagnostic prenatal test for confirmation of test results, before any medical decisions are made.
NEGATIVE
A negative result shows that there is a low risk for a chromosomal abnormality or a genetic disorder in the fetus. A low risk test result greatly reduces the chances that the fetus has a chromosomal abnormalty or monogenic disorder but it cannot guarantee a healthy baby.
POSITIVE
Positive screening result shows that there is a high risk for a chromosomal abnormality or a genetic disorder in the fetus. A patient with a positive test result should be referred for genetic counseling and should always be followed-up with an invasive diagnostic prenatal test for confirmation of test results, before any medical decisions are made.
COMPLIMENTARY SERVICES
Reimbursement of the test fee
for cases with inconclusive test results
Pre- and Post-test
genetic counseling
Free RhAdvance test for pregnant women Rh(D) negative with partner Rh(D) positive
Test completely made in Italy,
Pickup and test kit included
TURNAROUND TIME
3-4 days
4-5 days
7-10 days
TURNAROUND TIME
3-4 days
4-5 days
7-10 days
4 EASY STEPS
TYPE OF SAMPLE REQUIRED TO PERFORM THE TEST
WHY CHOOSE
ADVANCED MOLECULAR DIAGNOSTICS SOLUTIONS USING STATE-OF-THE ART TECHNOLOGIES
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
Over 100.000
genetic tests/year
Test performed in Italy
(Rome or Milan)
20+ years experience in prenatal molecular diagnostics
Fast
TAT
Dedicated R&D team
Laboratories with groundbreaking technologies and high quality standards
Personalized genetic counseling with genetic counselors experts in discussing genetic test results and familial risks
International Partnership
WHY CHOOSE
ADVANCED MOLECULAR DIAGNOSTICS SOLUTIONS USING STATE-OF-THE ART TECHNOLOGIES
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
Over 100.000 genetic tests/year
Test performed in Italy
(Rome or Milan)
20+ years experience
in prenatal molecular diagnostics
Fast
TAT
Dedicated R&D team
Laboratories with groundbreaking technologies and high quality standards
Personalized genetic counseling with genetic counselors experts in discussing genetic test results and familial risks
International Partnership
Brochure
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