A diagnostic test which allows multiple examinations of more than 1,000 genetic diseases in the foetus

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Next-generation Genomics and Prenatal Diagnosis

The extraordinary advances in the genomic and biotechnology sectors in the past few years paved the way for reading and understanding information on the foetal genome. Notably, new sequencing technologies called Next Generation Sequencing (NGS) make the analysis of DNA sequences easier and more effective, thus providing in-depth genetic information of the foetus.

About PrenatalScreen®

PrenatalScreen® is a diagnostic test developed by the GENOMA Group which allows multiple examinations of more than 1,000 genetic diseases in the foetus, including the most common in the Italian population, such as Cystic Fibrosis, Sickle Cell Anaemia, Thalassaemia, Spinal Muscular Atrophy and Hereditary Deafness.
Screen® allows expectant mothers to know whether their child suffers from severe genetic diseases through foetal DNA analysis.

PrenatalScreen® is suggested in the following cases:
• Personal/familial anamnesis of hereditary genetic diseases;
• For expectant mothers wanting to reduce the risk of a genetic diseases in the foetus;
• For natural pregnancies as well as medically assisted procreation procedures (MAP);
• For couples using heterologus artificial insemination procedures.

PrenatalScreen® analyses DNA extracted from foetal cells in the amniotic fluid, collected through amniocentesis, or in the chorionic villi through villocentesis. The aim of this diagnositc test is to study severe genetic diseases in the foetus, including the most frequently occuring diseases in the Italian population. Genes listed in Table 1 were selected according to the percentage of diseases caused by mutation to such genes occurring in the population, 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).

Download PrenatalScreen® Technical Information
(File format: PDF; Size: 1 Mb)


PrenatalScreen® test on the amniotic fluid is done 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 foetal cells suspended in the amniotic fluid. From such cells, called amniocytes, DNA is extracted.
The PrenatalScreen® 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 foetal tissue. Then DNA is extracted. The DNA isolated from the foetal cells is then amplified through PCR. Through a state-of-the-art technological process called massive parallel sequencing (MPS), which uses Next Generation Sequencing (NGS) techniques with ILLUMINA sequencing instruments, 744 genes are completely sequenced (exons and adjacent intrionic 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 examined genes.


Present 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

Present 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.

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 examination. Some regions of our DNA may not be sequenced or have a lower coverage than the limitations set by GENOMA Group experts to guarantee an accurate examination of gene variations. These regions, therefore, are not included in the examination if they do not meet the requested qualitative standards.



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 consulting phase and, if needed, will communicate the need to make further examinations on the parents in order to check whether the detected mutation is hereditary. Mutations detectable through the PrenatalScreen®  test may be classified under the following prognosis categories:

A) with known prognostic outcome; ;
B) with benign outcome since they may be detected in healthy individuals and are not associated with any pathological outcome;
C) with uncertain outcome since they are not yet known or classified by the medical and scientific community.

No mutations: this result shows the test has not detected any mutations in the examined genes. Such result significantly reduces the probability that the foetus carries the examined genetic diseases, although no guarantee may be given that the foetus is actually healthy


PrenatalScreen Brochure
(PDF file; 2,4 Mb)
Technical Information
(PDF file; 1 Mb)
Analysed genes
(PDF file; 814 Kb)
Informed consent
(PDF file; 250 Kb)

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 4,000 sqm. The centre uses state-of-the-art instruments and technologies and works at high quality levels.

GENOMA professionals have been working in genetics for more than 20 years. A team of more than 100 professionals, including geneticists, molecular biologists, gynaecologists, researches and laboratory technicians work together operating in the field of cytogenetic and molecular diagnostics for clinical applications and research and are led by Dr. Francesco Fiorentino inside a centre with very high technical and scientific standards.

GENOMA works all over Italy and abroad in Europe, the United States and the Middle East, providing specialised diagnostic support for public and private health clinics, examination laboratories, health centres, hospitals, private clinics, general outpatients' clinics, medically assisted procreation centres and physicians specialising in different fields.
Our laboratories receive biological samples from more than 5,000 health centres and hospitals every day. The integrated approach of the Centre is aimed at performing extremely high volumes of examinations; more than 100,000 genetic tests, constantly increasing, are carried out every year.

One of the features of the Group is a well-organised network of services, one of the most comprehensive in Italy and abroad, allowing the centre to offer its patients and their physicians innovative diagnostic solutions for any clinical need. With a list of more than 1,500 genetic tests available directly in our laboratories and divided into 20 areas of application, GENOMA is able to meet increasingly specialised requests in cytogenetic and molecular diagnostics, providing its customers with a highly specialised, precise, effective and rapid service.

GENOMA is a laboratory with one of the longest, wide-ranging experience in Europe in prenatal diagnostics. Thanks to this heritage, the Group can offer expectant mothers and their physicians state-of-the art technologies for foetal chromosome and genetic diseases diagnostics.

The laboratory in figures

2 main offices (Rome and Milan)
5,000 sqm dedicated to laboratories
100,000 genetic tests every year
1,500 types of genetic examinations
100 employees
20 areas of application
2,000 customers

Contact us

If you want additional information on the PrenatalScreen® test fill out the on-line form prepared by the GENOMA laboratory and please do talk to one of the staff in charge.


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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