This NIPT fetal DNA Base Plus investigates the 3 main fetal chromosome aneuploidies related to chromosomes 21, 18,13, and X, Y sex chromosomes, even fetal sex which, at our request, may be kept silent.
Every individual has 2 copies of each chromosome and 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 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. Other aneuploidies found with FetalDNA are X-chromosome trisomy (XXX), Klinefelter syndrome, and Jacobs syndrome.
Reporting times are included within 5 working days but may increase in case of technical difficulties on DNA analysis or if the test should be repeated.
It may be specifically required not to be aware of fetal sex.
N.B. Although FetalDNA tests provide maximum diagnostic accuracy today achievable with maternal blood screening methodologies, as is clear in the informed consent, no prenatal non-invasive testing (NIPT), regardless of Methodology and the company that produces and markets it, provides, according to the current Guidelines, the insights related to the screening of sex chromosomes, all the other chromosomes, microdeletions/microduplications and fetal monogenic diseases.
It is therefore correct to inform that no widespread and commercialized NIPT tests can guarantee a sufficient degree of accuracy in relation to the genetic problems mentioned above. To this end, it reiterates once again the existence of sufficient scientific guarantees that can validate the clinical use of information related to the search for pathologies of sex chromosomes, of the other 22 autosomes, of microdeletions/microduplications and fetal monogenic diseases.
Therefore, subject to such research, the pregnant woman must be aware that all scientific literature and national and international guidelines stipulate that only prenatal invasive diagnosis (Amniocentesis or CVS Test) represents the diagnostic test for such investigations.
NB: If the DNA screening test (INIPT Mini) provides a pathological result, the Center offers, for free, the confirmation test through prenatal diagnosis CVS Test or Amniocentesis, at the Main Center Altamedica in Rome.
To compare the various NIPT tests available go to: www.fetaldna.it/en/fetal-dna
or explore the table below: