Pregnancy monitoring has evolved significantly in recent years. Today, it is possible to obtain detailed genetic information about the baby from a simple maternal blood sample, without any risk to either the mother or the fetus. Within this evolution, the Monogenic NIPT represents the most advanced level of non-invasive prenatal screening: a test that goes far beyond the common trisomies and opens the door to the detection of de novo monogenic disorders.

What are monogenic disorders?

Monogenic disorders are caused by an alteration or mutation in a single gene. Unlike the best-known chromosomal abnormalities (such as the trisomies responsible for Down syndrome or Edwards syndrome), these disorders occur at the molecular level, affecting the DNA sequence of specific genes and impacting fetal development in a wide variety of ways.

These conditions have a high cumulative incidence: although each individual disorder is rare, together they account for a significant proportion of the genetic disease burden in newborns. Furthermore, they are difficult to detect before birth using conventional prenatal screening methods and, in many cases, are also difficult to treat once the baby has been born.

What is the Monogenic NIPT?

The Monogenic NIPT is a non-invasive prenatal test performed through a maternal blood sample collected between weeks 10 and 24 of pregnancy. Using this sample, it analyses circulating cell-free placental fetal DNA to assess the risk of 202 dominant monogenic disorders associated with specific alterations in 155 genes.

It is important to understand that this test not only expands the coverage of standard chromosomal screening but also includes all the features of the Special Plus NIPT, providing the most comprehensive prenatal screening currently available in a single analysis.

What types of disorders does it detect?

The 202 disorders analysed by the Monogenic NIPT cover a broad spectrum of dominant conditions associated with 155 genes. The main categories include:

• Skeletal disorders: alterations affecting the proper formation and growth of bones and cartilage.
• Neurological and muscular disorders: conditions that may impair nervous system development, cognitive function or the baby's mobility.
• Craniosynostosis: disorders related to the premature fusion of skull bones, often requiring specialised surgery after birth.
• Multisystem syndromes: complex conditions affecting several organs and body functions simultaneously.

In total, the test analyses 6,246 known mutations across these genes. These conditions have a high cumulative incidence, are difficult to identify before birth using conventional screening methods and often have limited treatment options after birth, making prenatal detection an invaluable tool for clinical decision-making.

Who is this test intended for?

The Monogenic NIPT is intended for women with naturally conceived singleton pregnancies. It is particularly recommended for:

• Pregnant women from week 10 onwards seeking the most comprehensive prenatal genetic assessment available.
• Women or couples with a family history of monogenic disorders.
• Cases where expanded screening beyond the common trisomies is desired.
• Couples with advanced paternal age.

Important note: Due to technical and analytical limitations, this test cannot be performed in multiple pregnancies, pregnancies achieved through egg donation, following pregnancy loss or in cases of vanishing twin syndrome.

What does the test involve?

The procedure is simple and requires no special preparation:

• It is performed through a maternal blood sample, with no need for fasting.
• It is non-invasive and poses no risk to either the mother or the baby.
• It can be carried out between weeks 10 and 24 of pregnancy.
• Results are available within 18 working days.
• A medical prescription is required to perform this test.

Results are delivered through Laboratorio Echevarne's online Patient Portal, with prior notification by email and SMS.

How are the results interpreted?

The Monogenic NIPT report may provide two types of results:

• Not detected: no pathogenic or likely pathogenic variant has been identified within the analysed range. This confirms with 99% certainty that the baby does not present any of the diseases included in the panel, although it cannot completely rule out other alterations not covered by the test.
• Detected: a pathogenic variant has been identified in one of the analysed genes, indicating an increased risk that the baby may be affected by the associated disorder. In this case, consultation with the obstetrician or gynaecologist is recommended to assess the need for a confirmatory diagnostic test, such as amniocentesis.

As with any prenatal screening result, interpretation should always be carried out by a healthcare professional, who will place the findings in context and advise on the most appropriate next steps for each individual case.

What makes it different from other NIPT options?

Laboratorio Echevarne offers a complete range of non-invasive prenatal tests, from the standard NIPT to the Monogenic NIPT. The main difference of this latest option is that it is not limited to chromosomal analysis: it goes one step further by incorporating the study of gene-related disorders that cannot be detected by any other NIPT.

Furthermore, by including all the coverage provided by the Special Plus NIPT, it also analyses all trisomies, sex chromosome aneuploidies, copy number variations (CNVs >5 Mb) and 92 microdeletions and duplications larger than 3 Mb. All of this is performed through a single analysis using one maternal blood sample.

The importance of professional guidance

The Monogenic NIPT is a screening tool and not a definitive diagnostic test. Its clinical value is greatest when it is integrated into comprehensive prenatal care and when the results are interpreted by a healthcare professional.

If a positive result is obtained, Laboratorio Echevarne recommends consulting your obstetrician or gynaecologist to determine the next steps, which may include genetic counselling and a confirmatory diagnostic test.

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Monogenic NIPT – Laboratorio Echevarne