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Incidence: Down syndrome occurs in approximately 1 out of every 700 live births.

Common Characteristics: People with Down syndrome may experience a range of physical and developmental differences. These can include learning challenges, distinct facial features, lower muscle tone, congenital heart conditions, hearing challenges, and developmental delays. The type and level of support needed can vary from person to person.

Living with Down Syndrome: Individuals with Down syndrome have a wide range of abilities and may require different levels of support throughout their lives. There may also be an increased likelihood of certain health conditions, such as respiratory infections, thyroid-related concerns, and early-onset Alzheimer’s disease. With appropriate medical care, early support, and inclusive environments, many individuals lead fulfilling lives.

Additional Information: Down syndrome is a genetic condition caused by an extra copy of chromosome 21. It is often identified during pregnancy or shortly after birth. Early support and appropriate care can play an important role in improving overall quality of life.

Incidence: 1 in 5,000 live births

Most common symptoms: severe intellectual disability, microcephaly, clenched fists with overlapping fingers, heart defects, organ defects, and developmental delays.

Vivere con la sindrome di Edwards: Edwards syndrome is a serious condition, and many affected infants do not survive beyond the first year of life. Those who survive may have significant intellectual and physical disabilities and will require specialized medical care.

Further information: Edwards syndrome is caused by an extra copy of chromosome 18. It is usually diagnosed during pregnancy or shortly after birth. Treatment for Edwards syndrome consists of supportive care and focuses on improving quality of life.

Incidence: 1 in 10,000 live births.

Most common symptoms: severe intellectual disability, cleft lip/palate, eye abnormalities, extra fingers and toes, heart defects, and organ defects.

Living with Patau syndrome: Patau syndrome is a serious condition, and many affected infants do not survive their first year of life. Those who survive may have significant intellectual and physical disabilities and will require specialized medical care.

More information: Patau syndrome is a genetic disorder caused by an extra copy of chromosome 13. It is usually diagnosed during pregnancy or shortly after birth. Treatment for Patau syndrome is individualized to the patient, with supportive care and improved quality of life.

Incidence: 1 in 2,500 live female births

Most common symptoms: short stature, infertility, heart defects, kidney abnormalities, and developmental delays.

Living with Turner syndrome: Turner syndrome is a genetic disorder that affects only women and can cause a wide range of symptoms that vary greatly among affected individuals. Hormone replacement therapy and other supportive measures can help manage symptoms and improve quality of life.

Learn more: Turner syndrome is caused by the absence of a complete or partial copy of the X chromosome in females. It is usually diagnosed in childhood or adolescence. Early diagnosis and timely treatment can significantly improve outcomes for people with Turner syndrome.

Incidenza: 1 su 500 nascite maschili vive

Most common symptoms: small testicles, infertility, tall stature, gynecomastia (breast enlargement), and developmental delays.

Living with Klinefelter syndrome: Klinefelter syndrome is a genetic disorder that affects men and causes a wide range of symptoms that vary widely among affected individuals. Hormone replacement therapy and other supportive measures can help manage symptoms and improve quality of life.

Additional information: Klinefelter syndrome is caused by the presence of an extra X chromosome in males, with a karyotype of 47,XXY. The syndrome is usually diagnosed during adolescence or adulthood. Early diagnosis and timely treatment can significantly improve outcomes for people with Klinefelter syndrome.

Incidence: 1 in 4,000 live births

Common symptoms: heart defects, cleft palate, immune system deficiencies, facial abnormalities, developmental delays, learning disabilities.

Living with DiGeorge syndrome: Some signs and symptoms may be visible at birth, while others may not appear until later in infancy or early childhood. People with DiGeorge syndrome are also at increased risk of developing autoimmune disorders and psychiatric disorders, including schizophrenia and anxiety disorders.

Learn more: DiGeorge syndrome is a genetic disorder caused by a deletion of a small fragment of chromosome 22. It has a wide range of symptoms, which can vary greatly among affected individuals. In most cases, DiGeorge syndrome is a "de novo" event; only about 10% of cases are inherited from a parent..

The NIPT test is 99.53% reliable in detecting the baby's sex starting from the 10th week of pregnancy.

Compared with other prenatal screening options, NIPT screening is designed to provide results more quickly and with a high level of screening accuracy. While it does not replace other prenatal screenings performed at different stages of pregnancy, it works well as a complement to them. For this reason, it is often considered alongside nuchal translucency measurement, an ultrasound-based examination that helps assess certain physical developments during pregnancy.

NIPT screening is a genetic screening option that can provide information about a wide range of genetic patterns early in pregnancy, starting from around the 10th week. It analyzes small fragments of genetic material naturally present in the mother’s blood, which allows screening without invasive procedures.

Because the screening is done through a simple blood sample, it is non-invasive and avoids the risks and discomfort that may be associated with invasive testing methods.It is also important to note that NIPT differs from other prenatal screening approaches by offering broader screening coverage and a simple testing process, while helping reduce the likelihood of unclear screening results. This may help many expectant parents avoid unnecessary stress and the need for invasive follow-up procedures, in consultation with their healthcare provider.

NIPT screening uses advanced genetic analysis methods to examine small fragments of genetic material found naturally in the blood. These fragments, known as cell-free DNA, circulate in the bloodstream during pregnancy and include genetic material from both the mother and the developing baby.

‍The screening process
The NIPT screening begins with a simple blood sample taken from the pregnant woman’s arm. This can be done as early as the 10th week of pregnancy, although some women choose to have the screening a little later, between the 12th and 14th weeks.
After the sample is collected, it is sent to a laboratory for analysis using advanced sequencing techniques. Screening results are typically available within a few days after the sample is processed.

The NIPT test can detect many different genetic disorders, including trisomies, which are responsible for Patau syndrome (trisomy 13), Edwards syndrome (trisomy 18), and Down syndrome (trisomy 21).

This test can also identify some of the microdeletions and microduplications that can cause serious disorders in the child. NIPT analysis can identify a wide range of chromosomal abnormalities, including:
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- sex chromosome aneuploidies;
- trisomies of chromosomes 9, 16, and 22;
- Turner syndrome, XXX, XYY, and Klinefelter syndrome.

Additionally, the NIPT test result can also include the child's sex..

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The NIPT test is characterized by a very high sensitivity, reaching 99%. This effectiveness has been confirmed by large-scale validation studies involving approximately 147,000 pregnant women. This means that this test can correctly identify almost all cases of trisomy and other genetic diseases. Furthermore, the risk of obtaining a false-negative result is very low (less than 0.01%). Furthermore, the NIPT genetic test has the lowest rate of missed results or the need for retesting.

There are no contraindications to this test, especially considering it only involves a blood sample from the elbow. It can be performed by any expectant mother wishing to assess the risk of trisomy and other abnormalities in her baby. This can help dispel any concerns in the early weeks and allow her to enjoy her pregnancy.

This test is especially recommended when:
- the pregnant woman is over 35 years old—with age, the risk of the baby developing trisomy 13, 18, and 21, among other conditions, increases;
- there is a family history of genetic disorders;
- first-trimester screening tests have revealed abnormalities.

As mentioned above, the NIPT test is a noninvasive test with a 99% certainty. If the result is negative, no invasive tests are necessary. However, abnormal results should be confirmed with amniocentesis. This procedure involves sampling a small amount of amniotic fluid, which contains fetal cells. This is done using a thin needle inserted through the mother's abdomen.

For the NIPT test, the price can vary depending on the service package selected. Costs start at around €400, but it's important to remember that the quality and accuracy of the test represent an investment in the future health of the child. Women typically have several packages to choose from, which differ in the scope of the tests performed. The more tests performed, the higher the price.

The NIPT test is a modern and effective prenatal test that allows for the early detection of many genetic diseases. Thanks to this test, expectant parents can make informed decisions about how to proceed with the pregnancy, taking into account the health of their child.