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FREQUENTLY ASKED QUESTIONS

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What is Fetal DNA?

FetalDNA is an examination that allows to obtain information on the main chromosome           abnormalities that may affect the fetus as the one related to Down syndrome (chromosome 21 trisomy), Edwards syndrome (chromosome 18 trisomy), Patau syndrome (chromosome 13 trisomy), and X and Y sex chromosomes (Turner syndrome, Klinefelter). There are different levels of deepening of the test, the last of which gets to know the entire fetal chromosome kit and a very high number of chromosome damage from structural rearrangements

Is it possible to apply for the determination of fetal sex?

Yes it is possible to apply for the sex determination with all 5 tests (Basic FetalDNA, Basic Plus FetalDNA, Karyotype FetalDNA, Karyotype Plus FetalDNA and Total Screen FetalDNA).

Who is FetalDNA for?

The FetalDNA is for all women in every pregnancy starting at 10 week; It can be performed either in the case of single or twin pregnancy, in natural pregnancies or obtained by medically assisted procreation techniques (heterologous and homologous).

Is it possible to perform FetalDNA beyond the 10th week?

Absolutely. The concentration of fetal DNA is sufficient to perform the analysis from ten weeks of pregnancy and there is no final date to perform the analysis because the concentration remains elevated to decrease only after childbirth.

How is FetalDNA performed?

FetalDNA provides a simple collection of maternal blood that you can perform at our laboratories (Rome and Milan), at the Centers of the Altamedica network (contact us to know all the available Centers), at your doctor’s office or at home (contact us to know the modalities).

What results does FetalDNA provide?

FetalDNA provides simple and comprehensive data, the medical report bear the POSITIVE (aneuploidy detected) or NEGATIVE (no aneuploidy detected) word.

If I need explanation, who can I contact?

Our structure, national leader for all that concerns prenatal diagnosis, makes available to its patients a dedicated telephone active 24 hours a day, 7 days a week, where one of our geneticist will answer all the questions and explanations about the results recorded in the medical report.

Is it possible to request the kit shipment? Who can I contact?

You can request the FetalDNA test by completing the online application form or by calling the number 06 8505 (R.A), toll-free number 800 617617, our dedicated number 345.8740439 (active 24 hours a day, 7 days a week) or the secretariat of the Genetics Institute 06.8505841

Why choose FetalDNA compared to other tests on the market?

FetalDNA | INIPT ™ technology is the noninvasive test on maternal blood (NIPT) that is performed in the Medical Genetics Laboratory of the Maternal-fetal Medicine Center ALTAMEDICA in Rome that for 40 years is a national leader for the prenatal diagnosis of diseases in utero . We are not only a laboratory but a clinic that over the years has made prenatal diagnosis its mission.

This allows us to manage the expectant mothers at 360 degrees both in preanalytical, consultancy, postanalytical and diagnostic studies, boasting clinical records throughout the territory without equal. Moreover, unlike other tests on the market, the execution of FetalDNA is performed within our genetic laboratories avoiding the shipment to other States and using the shortest time possible for medical report.

Furthermore, if an aneuploidy is found, the patient may undergo an invasive prenatal diagnostic test (Amniocentesis or CVS Test) for free, as well as all the appropriate ultrasound checks, and will be followed by the Altamedica medical staff.

The analysis of fetal DNA circulating on maternal blood (NIPT) in FetalDNA, represents, to date, the most reliable and precise screening analysis?

Of course, FetalDNA | INIPT ™ technology is today the most you can get in screening terms for the study of chromosome aneuploidies that may affect the fetus. The tests used to study the nuchal translucency and the biochemical dosage of the free B-HCG and PAPP-a proteins have a probability of detecting false negatives (i.e. fetuses that should not be affected by trisomy but which are actually) very higher than the FetalDNA. However, it should be stated that the only surveys that allow us to have certain diagnostic information on the presence/absence of chromosome pathologies of the fetus are today the CVS Test and Amniocentesis.

Can FetalDNA be dangerous for the mother or the fetus?

Absolutely not. Being it a simple blood sample does not create any kind of complications.

What are fetal aneuploidies?

The term aneuploidies refers to numerical anomalies of the chromosomes. The term TRISOMY means that, for that particular chromosome, 3 copies, rather than 2, of that chromosome are observed. The term MONOSOMY means that, for that particular chromosome, 1 copies, rather than 2, of that chromosome are observed. The aneuploidies studied by Basic Plus FetalDNA are the most important and common that can affect the fetus.

TRISOMY OF CHROMOSOME 21 is the most common aneuploidy and refers to the presence of an extra copy of chromosome 21.

This syndrome is known as Down syndrome and represents, with an incidence of about 1/650 births, the most common form of mental retardation (intellectual disability?);

TRISOMY OF CHROMOSOME 18, is the second most common aneuploidy and refers to the presence of an extra copy of chromosome 18. This syndrome is known as Edwards syndrome and is associated with a high abortion risks. Its incidence is estimated to be present in about 1/5000 births.

TRISOMY OF CHROMOSOME 13, is caused by an extra copy of chromosome 13 and is also known as Patau syndrome. It is associated with a high abortion; Newborns have different pathological conditions that often cause deaths in childhood. It is estimated to have an incidence of about 1/16000 births.

SEX CHROMOSOME ANEUPLOIDIES, are anomalies affecting the XY sex chromosomes and which can cause difficulties of language, motor and/or learning in the affected newborns. The most common of this class of aneuploidies is TURNER SYNDROME or X-LINKED MONOSOMY that affects women with only one copy of the X chromosome and has an incidence of about 1/2700 births.

What are microdeletions?

The term microdeletion/microduplication refers to anomalies characterized by the absence of a small chromosomal tract with consequent loss of gene information (microdeletions) or by the addition of supernumerary genomic material (microduplications). Both conditions cause pathologies with complex and variable clinical and phenotypic conditions dependent on the chromosome involved, the affected chromosome region and the size of the microdeletion itself.

What are monogenic diseases?

All monogenic or Mendelian diseases are the result of mutations in single genes of large effects. The number of known Mendelian disorders is now of enormous proportions. It is estimated that each individual is a carrier of a number of abnormal genes ranging from five to eight. Most of these are recessive and therefore have no obvious phenotypic effects. About 80-85% of these mutations are familial. The remainder represents mutations acquired de novo from the affected individual.

Monogenic disorders follow one of three possible modes of transmission:

  1. Autosomal dominant (dominant autosomal diseases)
  2. Autosomal recessive (autosomal recessive diseases)
  3. Linked to the X chromosome (X-linked) (X-linked diseases)

What is preterm test screening?

Preterm birth is today the most frequent cause of mortality and morbidity of the fetus and the neonatal. Studies have focused for decades on the possibility of identifying pregnant women at risk of giving birth before the 37 week so that they can set up a series of therapeutic strategies that can prevent this severe eventuality. For years, scholars have focused on the most diverse etiologies, including the infectious ones, the morphological ones (uterine malformations), and the incontinence of the uterine neck that have been invoked as major causes. Unfortunately, none of these were able to justify the large number of premature births. A recent study of about 50000 women has uncovered an unexpected cause. Preterm birth insists on a population of pregnant women genetically predisposed to this event.

It is one of the largest statistical studies conducted examining over 15 million genetic polymorphisms of susceptibility (SNP).

The study, which lasted many years, involving more than 50 scientific institutions around the world, was recently published in the New England Journal of Medicine and identified genetic mutations responsible for the duration of pregnancy and the preterm birth trend.

The genetic research team of the ALTAMEDICA Institute has reconstructed the panel of these mutations and is able to offer in the Total Screen FetalDNA an analysis of the risk of genetic predisposition to preterm birth. As you can guess, it is a formidable tool useful to the gynecologist to identify, from the first trimester of pregnancy, the subjects at risk and therefore prepare the prevention and therapy supports useful to prevent this eventuality. However, it should be noted that a number of other factors causing preterm birth can be added to the genetic predisposition.

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