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Non-Invasive Prenatal Screening Test for Sickle Cell Appears Possible, Study Reports

A non-invasive prenatal test to diagnose a risk of sickle cell disease in a baby is possible and may be available in clinics in a near future, if further testing confirms its efficacy, researchers in the U.K. report.
Julia van Campen presented the first results of the non-invasive test in the presentation “Non-invasive prenatal diagnosis of sickle cell disease by next generation sequencing of cell-free DNA” at the recent 2019 European Human Genetics Conference in Gothenburg, Sweden.

Sickle cell disease (SCD) is an autosomal recessive disease, meaning that a child has to inherit two mutated copies of the hemoglobin gene to develop it — one from each parent. If both parents have sickle cell trait, there is a 25 percent chance the child will have SCD. Without early diagnosis and treatment, the life expectancy of children with SCD is only a few years.

Currently, sickle cell can only be diagnosed during pregnancy using an invasive test like amniocentesis that carries a risk, although small, of miscarriage, leading some parents to decline it. An earlier survey showed that if patients had the option of a non-invasive test, more would choose screening for the possibility of SCD.