Male specific monoclonal antibody

Prenatal diagnosis can be very important for pregnant women carriers of X-linked recessive congenital disorders, such as Haemophilia, Fragile X syndrome or Duchenne muscular dystrophy. In case of a male foetus at risk, conventional invasive diagnostic procedures such as chorionic villus sampling and amniocentesis, with an associated risk of miscarriage, are used to identify in foetuses the maternally inherited genetic defect. The availability of a non-invasive prenatal diagnosis test that can safely identify the affected male foetuses in the early period of gestation is still an unsolved problem, due to the poor circulating DNA quantity, the high maternal DNA contamination, and the lack of specific foetal markers.

The developed monoclonal antibody specifically bind the RPS4Y1 protein, a gender (male) biomarker, synthesized by a gene localized in the Y chromosome. The identification of that protein in biological samples, especially in blood, could overcome the current limit of lack of specific foetal markers and could improve the identification of foetal cells by targeting any type of male cells circulating in the maternal blood, thus allowing the development of a rapid and non-invasive method to select male cells for the genetic analysis. The antibody is proposed to be used in prenatal diagnostic tests of X-linked disorders to isolate male foetal cells from ablood sample taken from the mother since the early weeks of pregnancy.

Patent granted in Italy and USA

More info are described in the following paper https://www.mdpi.com/1422-0067/22/4/2001