Celocentesis, is an invasive technique that can provide prenatal diagnosis of single gene disorders, from as early as seven weeks’ gestation. The objective of this study is to examine the safety of celocentesis. Celocentesis was performed for prenatal diagnosis of hemoglobinopathies in 402 singleton pregnancies, in which both parents were carriers of thalassaemia or sickle cell disease trait. We assessed procedure-related maternal discomfort or pain, success of sampling and obtaining of results, pregnancy outcome and postnatal follow up. For more information click here.
Detection of alpha-1 Antitrypsin Deficiency
Living With Type I Usher Syndrome