Sickle cell disease (SCD) is a form of anemia that is inherited when both parents are carriers of a mutation in the hemoglobin gene. Currently, this disease can only be diagnosed in pregnancy by carrying out an invasive test that has a small risk of miscarriage and is therefore sometimes declined by parents. Now, researchers from Guy's and St Thomas' NHS Foundation Trust and Viapath Analytics, London, UK, in collaboration with non-invasive healthcare company Nonacus Ltd., Birmingham, UK, have developed a non-invasive prenatal test for the disease, and this test was described on June 16, 2019 at the annual conference of the European Society of Human Genetics (ESHG) (https://2019.eshg.org/) (June 15-18). The abstract (C08.5) of this presentation is titled “Non-Invasive Prenatal Diagnosis of Sickle Cell Disease by Next-Generation Sequencing of Cell-Free DNA.” Julia van Campen, PhD, research scientist at Guy's and St Thomas', explains: “We have developed a method of testing for SCD using cell-free fetal DNA -- DNA from the fetus that circulates in the maternal bloodstream. Although cell-free fetal DNA testing is already available for some disorders, technical difficulties have hampered the development of such a test for SCD, despite it being one of the most commonly requested prenatal tests in the UK.” In couples that are at risk of having a baby with SCD, each partner carries a mutation in the hemoglobin gene, which means that any fetus has a one in four chance of inheriting both mutations and therefore being affected by SCD. Non-invasive prenatal diagnosis (NIPD) of conditions that are inherited in this way is difficult. "The development of a non-invasive prenatal assay for sickle cell disease has been attempted before and, until now, has not been successful, "says Dr. van Campen.
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