Markers and Methods For Prenatal of Chromosal Alberrations
OwnerNathalie Leporrier, Michel Herrou +3inventors
InventorsNathalie Leporrier, Michel Herrou, Sophie Feldblum, Pierre-Yves Simonin, Jean-Francois Cornuel
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Abstract
The invention concerns prenatal screening of chromosomal aberrations, more particularly, through identification of novel markers of chromosomal aberrations, in particular, trisomy 21, whereof the assay based on a body fluid of the pregnant woman enables, alone or in combination with other assays, the probability that the fetus suffers from a chromosomal aberration to be more accurately determined than that by currently used tests.
Claims17
A method for the in vitro prenatal screening of chromosomal aberrations, comprising a step of detecting, in a biological sample originating from a pregnant woman, at least a first marker chosen from:
- (i) the human neutrophil defensins HNP-2, HNP-1 and HNP-3, and/or (ii) the molecular species detectable by mass spectrometry with separation of anion exchange type, at the following molecular weights:
- 4461.60 Da;
- 4570.90 Da;
- 4630.70 Da;
- 4714.30 Da;
- 4859.10 Da;
- 8195.65 Da;
- 8905.85 Da;
- 9121.00 Da;
- 9700.50 Da, and/or (iii) the molecular species detectable by mass spectrometry with separation of hydrophobic type, at the following molecular weights:
- 2625.47 Da;
- 4068.5 Da;
- 4075.95 Da;
- 4084.3 Da;
- 4084.7 Da;
- 4093.13 Da;
- 4320.79 Da;
- 4642.66 Da;
- 4658.47 Da;
- 6419.80 Da;
- 8107 Da;
- 8124.5 Da;
- 8140.5 Da;
- 8155 Da;
- 8269.10 Da;
- 8338.80 Da;
- 8610.30 Da, said method also comprising a step of detecting at least a second marker chosen from groups (i), (ii), and (iii), or from group (iv) consisting of chorionic gonadotrophin hormone (hCG);
- hCG β-subunit;
- unconjugated estriol (uE3);
- alpha-fetoprotein (AFP);
- inhibitin A;
- and pregnancy-associated plasma protein (PAPP-A).
The use of one or more human neutrophil defensins chosen from HND-1, HND-2 and HND-3, as a marker or markers for the prenatal diagnosis of a chromosomal aberration.
Dependencies are inferred from the claim text.