Australia; NSW; VIC
DNA sequencing while still in the womb has led to a lifesaving treatment for one Australian baby, according to an Australian case report. The pregnant mother underwent DNA sequencing after an ultrasound detected heart and skeletal anomalies in the growing fetus, and it was discovered that the baby had a high risk of a rare condition known as Congenital thrombotic thrombocytopenic purpura (TTP). The DNA detection allowed medical teams to plan for the baby to be delivered at a tertiary centre with treatments in place. The researchers say this case illustrates the power of prenatal genomics to enable lifesaving therapy.
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