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FetalDNA Karyotype Plus

The FetalDNA Karyotype Plus level is the highest non-invasive prenatal test (NIPT) on fetal DNA available today, with the exception of the FetalDNA Total Screen.

Fetal
Karyotype

microdeletion / microduplication
syndromes

Maternal cystic fibrosis

FetalDNA Karyotype Plus is one of the most complete levels as a prenatal test: it adds to all the previous investigations the screening of a large number of chromosomal alterations caused by structural rearrangements (which are defined as microduplications / microdeletions) at a resolution of about 7 Mb (for resolutions inferior diagnosis on maternal blood is not obtained, only invasive prenatal diagnosis such as Amniocentesis or CVS should be used, carrying out a specific study with microarrays).

In brief, with the Karyotype Plus level, the numerical alterations of the 23 pairs of chromosomes of the fetus are analyzed (including the trisomies of chromosomes 13, 18, 21 and the anomalies of the sex chromosomes X and Y, also determining the fetal sex on request) and, thanks to a particular bioinformatics evaluation, it is also possible to inspect the internal structure of the chromosomes, with definition of the order of megabases.

FetalDNA Karyotype Plus is also able to broaden the investigation of pathologies with a screening that allows information on the presence of the most important microdeletion syndromes in fetus.

The term microdeletion / microduplications 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 pictures depending on the chromosome involved, the chromosomal region involved and the size of the microdeletion / microduplication itself.

The main microdeletion syndromes investigated by the FetalDNA Karyotype Plus are listed below:

1q21.1 deletion syndrome
Prader-Willi syndrome
Cri-du-chat syndrome
Miller-Dieker syndrome
WAGR syndrome
Potocki-Shaffer syndrome
Angelman syndrome
Rubinstein-Taybi syndrome
Koolen-de Vries syndrome
18q deletion syndrome
Alagille Syndrome (AGS)
1p36 deletion syndrome
Kleefstra syndrome (KS)
Phelan-Mcdermid syndrome
Smith-Magenis syndrome
1q21.1 deletion syndrome
DiGeorge syndrome
Jacobsen syndrome
Langer-Giedion syndrome
Wolf-Hirschhorn syndrome
Hereditary neuropathy with susceptibility to pressure paralysis (HNPP)

The FetalDNA Karyotype Plus also includes, free of charge, the search for the most frequent mutations of Maternal Cystic Fibrosis.

In this way, if one of these mutations is present in the mother, it will be necessary to investigate whether the fetus is also a simple carrier or, if the father was also a carrier, ran the risk of being affected by Cystic Fibrosis. This happens in 25% of cases if both parents were healthy carriers.

With the FetalDNA Karyotype Plus, the analysis of the maternal gene is carried out through a screening called 1st level which allows to analyze the most common and frequent mutations, managing to identify about 83% of carriers. The estimated frequency, in the Italian population, of healthy carriers (often unaware of being so) is 1 in 25-30, that of affected births is 1 in 2500 – 3000.

Sex of the child available upon request.

In the event that the mother has a negative Rh factor (which can be documented and visible at the time of the FetalDNA request), it is possible to request a free fetal RH analysis.

Results are available within 5 working days (but time may increase in case of technical difficulties during DNA analysis or if patient needs to repeat the test).

The prenatal test carries out a sophisticated and reliable screening but not a diagnosis, regardless of the company and the technology used. Diagnostic certainty is provided only by invasive tests (Amniocentesis and CVS) as reported in all the guidelines and international scientific literature.

In the event that the DNA screening test (FetalDNA Base) reveals abnormalities, the Altamedica Healthcare Center offers free confirmation tests through prenatal diagnosis (CVS or Amniocentesis), within our Healthcare Center in Rome.

Table comparison

FETALDNA KARYOTYPE PLUS + MONOGENIC FETAL DISEASES

It is also possible to integrate to this level the screening of Monogenic Fetal Diseases:

Cystic Fibrosis (GENE CFTR)
Congenital deafness (GENE GJB2)
Beta thalassemia (GENE HBB)
Rett syndrome (GENE MECP2)
Hemochromatosis (GENE HFE)
Achondroplasia (GENE FGFR3)
Hypochondroplasia (GENE FGFR3)
Thanatophoric dysplasia (GENE FGFR3)
Apert syndrome (GENE FGFR2)
Crouzon syndrome (GENE FGFR2)
Leopard Syndrome (PTPN11 GENE)
Phenylketonuria (PAH GENE)
Noonan syndrome
(GENES PTPN11 / SOS1 / RAF1)
Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (GENE CYP21A2)
Autosomal recessive polycystic kidney (PKHD1)

Results are available within 5 working days (but time may increase in case of technical difficulties during DNA analysis or if patient needs to repeat the test).

The prenatal test carries out a sophisticated and reliable screening but not a diagnosis, regardless of the company and the technology used. Diagnostic certainty is provided only by invasive tests (Amniocentesis and CVS) as reported in all the guidelines and international scientific literature.

In the event that the DNA screening test (FetalDNA Base) reveals abnormalities, the Altamedica Healthcare Center offers free confirmation tests through prenatal diagnosis (CVS or Amniocentesis), within our Healthcare Center in Rome.

Table comparison