An advanced molecular prenatal test that screens 744 genes for mutations causing over 1.000 genetic disorders in the fetus

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Next-generation Genomics and Prenatal Diagnosis

The extraordinary advances in the field of genomics and biotechnology in the past few years paved the way for reading and understanding information on the human genome. Notably, a new sequencing technology, named Next Generation Sequencing (NGS), makes DNA analysis more comprehensive, easier and more effective.

The increased information obtained from NGS is providing remarkable insight into prenatal diagnosis of genetic disorders. This improved understanding ultimately translates into improved genetic tests, providing the impetus for larger and more expansive screening for genetic diseases in the fetus.

About PrenatalScreen® test

PrenatalScreen® Prenatal test is an advanced genetic test that analyses fetal DNA, obtained from CVS or amniotic fluid following an invasive prenatal diagnosis, to screen for monogenic disorders in the fetus.
Using the latest technologies, including Next Generation Sequencing (NGS), PrenatalScreen® Prenatal Test screen 744 genes for mutations causing over 1.000 severe genetic disorders in the fetus. PrenatalScreen® Prenatal Test allows for a comprehensive care and enables patients to make more informed reproductive decisions. Offering PrenatalScreen® Prenatal Test to a patient during pregnancy allows her to gain more knowledge about the potential to pass along a condition to the fetus.

PrenatalScreen®: Indication for testing

PrenatalScreen® is intended for patients who meet any of the following criteria:
• Personal/familial anamnesis of hereditary genetic diseases;
• For future parents wishing to reduce the risk of a genetic diseases in the fetus;
• For natural or in vitro fertilization (IVF)-derived pregnancies:
• For couples using heterologus IVF procedures (egg/sperm donors).

Aim of the test

PrenatalScreen® Prenatal Test analyses DNA extracted from fetal cells in the amniotic fluid, collected through amniocentesis, or in the chorionic villi through villocentesis (CVS). The aim of this diagnositc test is to assess severe genetic diseases in the fetus, including the most common diseases in the European population. Genes listed in (Table 1) were selected according to the incidence in the population of the disease caused by mutations in such genes, the severity of the clinical phenotype at birth and the importance of the related pathogenetic picture, in accordance with the indications of the American College of Medical Genetics (ACMG) (Grody et al., Genet Med 2013:15:482–483).

The testing process

PrenatalScreen®  Prenatal Test on the amniotic fluid is performed via an ultrasound-guided transabdominal aspiration of 15-20 ml of amniotic fluid, between the 15th and the 18th week of pregnancy. The centrifugation of the amniotic fluid separates the liquid portion from the mass fraction which includes fetal cells suspended in the amniotic fluid. From such cells, called amniocytes, DNA is extracted.
The PrenatalScreen® Prenatal Test on chorionic villi is carried out by ultrasound-guided transabdominal collection of around 20 mg of chorionic villi between the 11th and the 13th week of pregnancy. The collected material is washed and observed under the microscope to separate the maternal tissue from the fetal tissue. Then fetal DNA is extracted.
The DNA isolated from the fetal cells is then amplified by PCR. Through a state-of-the-art technological process, named massively parallel sequencing (MPS), which uses Next Generation Sequencing (NGS) techniques with ILLUMINA sequencing instruments, 744 genes are completely sequenced (exons and adjacent intronic regions, ± 5 nucleotides) (Table 1) at high read depth. The resulting genetic sequences are analysed via an advanced bioinformatics analysis, to check the presence of potential mutations in the genes under investigation.

Accuracy of the PrenatalScreen® test

Current DNA sequencing techniques are more than 99% accurate. Even though this test is very accurate, the limitations of this examination are to be always taken into consideration. Please read below.

Limitation of the PrenatalScreen® test

This test analyses only genetic diseases and genes listed in Table 1.
The test does not detect other genetic diseases or genes that were not specifically targeted.

A “NEGATIVE” - No mutations result for the examined genes does not exclude the possibility that mutations are present in a region of the genome that was not explored during the analysis.

Genetic Counseling
If you have remaining questions about non-invasive prenatal testing of single gene disorders after talking with your health care provider, we recommend that you make an appointment with a local genetic counselor who can give you more information about your testing options.



Presence of one or more mutations:
This result shows that the test detected one or more mutations in one or more genes. Our geneticist will explain the meaning of the test results in detail during the genetic counselling phase and, if needed, will communicate the necessity to make further examinations on the parents in order to check whether the detected mutation is hereditary.

Mutations detectable through the PrenatalScreen® Prenatal Test may be classified under the following prognosis categories:

Known pathogenic: clinical relevant mutations causing well-established syndromes;
Likely pathogenic: variants that are likely clinical relevant and may cause well-established syndromes;
Variants of uncertain clinical significance (VOUS): findings with insufficient evidence available for unequivocal determination of clinical significance;
Benign: variants that are common or observed in the normal population without known phenotypic signs or inherited from a healthy parent.

Only variants classified as "known pathogenic" and “Likely pathogenic” will be reported.

No mutations:
This result shows the test has not detected any disease causing mutation in the investigated genes. Such result significantly reduces the probability that the fetus is affected by the specific genetic diseases, although no guarantee may be given that the fetus is actually healthy.

PrenatalScreen® is a test of

Genoma Group

Advanced molecular diagnostics solutions using state-of-the art technologies

Test performed in Italy

ISO 17025 accredited laboratories

Fast TAT: 10 days

Personalized genetic counseling

20 years experience in prenatal diagnostics

Dedicated R&D team

Test available worldwide

Over 200.00 genetic tests/year

About us

GENOMA: a rich heritage combining technologies and people, a model for quality, professional expertise and competencies.

GENOMA is a highly specialised diagnostic centre in Italy, renowned for its contribution to the advancement of molecular diagnostics. The laboratory is also renowned internationally thanks to its collaboration with scientific networks and prestigious research projects.

GENOMA, incorporated in 1997, is the point of reference for high-tech examinations. It is mainly a "service" centre for highly specialised prenatal and postnatal genetic, cytogenetic and molecular examinations.

GENOMA is considered as one of the most advanced molecular diagnostics centre in Europe and its head offices are in Rome and Milan. The laboratories are in a modern, high-tech building and cover a surface of more than 7,000 sqm. The centre uses state-of-the-art instruments and technologies and works at high quality levels.

Visit Genoma Web Site

Our figures

3 Laboratories (2 in Rome and 1 in Milan)

7.000 sqm dedicated to laboratories


3.000 different genetic tests

NGS panels

genes tested


40 sales

20 areas of application in molecular genetics

How to order PrenatalScreen® test

PrenatalScreen Procedure
PrenatalScreen Kit

Ordering PrenatalScreen® Prenatal test is simple and fast

Please contact a member of our Customers Service team at +39068811270 for more information
or fill in all required information into the following form.

Via Castel Giubileo, 11 - 00138 Rome (RM)
Tel. : + (39) 06.8811270 (6 lines)
Fax : +(39) 06 64492025

Via Enrico Cialdini, 16 (Affori Centre)
20161 Milan (MI)
Tel. : + (39) 0239297626 (12 lines PBX)
Fax : + (39) 02392976261

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