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Letters to the Editor |
Departments of1 Obstetrics and Gynaecology and,2 Paediatrics National University of Singapore, Singapore
aAddress correspondence to this author at: Department of Obstetrics and Gynaecology, National University of Singapore, 5 Lower Kent Ridge Rd., Singapore 119074; e-mail obgmac{at}nus.edu.sg.
Diagnosis of a fetal genetic condition requires fetal genetic material, which to date generally implies the need for invasive testing. Ultrasound for evidence of a hyperdynamic circulation can be used as a screening tool to identify at-risk pregnancies, but it is not diagnostic. In time perhaps the use of fetal DNA circulating in maternal plasma may offer more direct evidence of fetal thalassemia status.
Many prenatal diagnostic centers now offer quantitative fluorescent PCR routinely for rapid aneuploidy detection. Our test can be readily implemented at only marginal cost. In fact, it eliminates the need for multiple primer sets in several double-deletion
-thalassemia syndromes.
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