Noninvasive fetal RHD genotyping in the first trimester of pregnancy

摘要

In the Prenatal Diagnosis published online on 31 May 2011, Bombard et al. described a high-throughput method for noninvasive fetal RhD genotyping in the first trimester of pregnancy, based on matrix-assisted laser desorption/ ionisation-time of flight mass spectrometry technology.1 Their results show that fetal RhD can be accurately genotyped both in the first and the second trimesters of pregnancy. They referred to articles that have previously described fetal RhD genotyping in the first trimester of pregnancy, the biggest sample size being 102. To our knowledge, their references are not complete, because they do not mention the results of our group. We have published in August 2010 a study with 111 RhD negative pregnant women in the first trimester of pregnancy (Mean: 10 gestational weeks). Our results showed that noninvasive fetal RhD genotyping in the first trimester of pregnancy by qPCR is also feasible. This prospective pilot study currently comprises 157 RhD negative pregnant women, where fetal RhD genotyping has been diagnosed with 98% diagnostic accuracy, 100% sensitivity and 95% specificity.