Chromosomal Abnormalities

  • Many forms of congenital heart disease are associated with an increased risk of chromosomal or genetic problems. Everybody has 23 pairs of chromosomes in each cell- one pair of which determines whether we are male (XY ) or female (XX) and the rest which determines the genetic make up of the body. Chromosomes are inherited from both parents and carry parental genetic information in the form of genes from generation to generation.

    There are many different types of chromosomal and genetic disorders. Some of these are able to be detected antenatally by undertaking an invasive test called a CVS (chorionic villus sampling) or amniocentesis depending on what stage of the pregnancy you are at.

    Detailed information leaflets about CVS and amniocentesis can be found on the Fetal anomaly screening programme website (FASP)

    CVS- fetalanomaly.screening.nhs.uk/getdata.php?id=11086
    Amniocentesis – fetalanomaly.screening.nhs.uk/getdata.php?id=11430
    There are many websites and support groups for families affected by different genetic problems and you may find some of the following useful both for information and for support.

    These are by no means exhaustive but are reliable sources of information.

    Antenatal results and choices

    DiGeorge Syndrome or 22q11 microdeletion

    Down’s Heart group

    Down’s Syndrome Association

    Trisomy 13/18