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A prospective study on rapid exome sequencing as a diagnostic test for multiple congenital anomalies on fetal ultrasound.
Prenatal Diagnosis ( IF 2.7 ) Pub Date : 2020-07-06 , DOI: 10.1002/pd.5781 Nicole Corsten-Janssen 1 , Katelijne Bouman 1 , Janouk C D Diphoorn 1 , Arjen J Scheper 1 , Rianne Kinds 1 , Julia El Mecky 1, 2 , Hanna Breet 1 , Joke B G M Verheij 1 , Ron Suijkerbuijk 1 , Leonie K Duin 3 , Gwendolyn T R Manten 4 , Irene M van Langen 1 , Rolf H Sijmons 1 , Birgit Sikkema-Raddatz 1 , Helga Westers 1 , Cleo C van Diemen 1
Prenatal Diagnosis ( IF 2.7 ) Pub Date : 2020-07-06 , DOI: 10.1002/pd.5781 Nicole Corsten-Janssen 1 , Katelijne Bouman 1 , Janouk C D Diphoorn 1 , Arjen J Scheper 1 , Rianne Kinds 1 , Julia El Mecky 1, 2 , Hanna Breet 1 , Joke B G M Verheij 1 , Ron Suijkerbuijk 1 , Leonie K Duin 3 , Gwendolyn T R Manten 4 , Irene M van Langen 1 , Rolf H Sijmons 1 , Birgit Sikkema-Raddatz 1 , Helga Westers 1 , Cleo C van Diemen 1
Affiliation
Conventional genetic tests (quantitative fluorescent‐PCR [QF‐PCR] and single nucleotide polymorphism‐array) only diagnose ~40% of fetuses showing ultrasound abnormalities. Rapid exome sequencing (rES) may improve this diagnostic yield, but includes challenges such as uncertainties in fetal phenotyping, variant interpretation, incidental unsolicited findings, and rapid turnaround times. In this study, we implemented rES in prenatal care to increase diagnostic yield.
中文翻译：
一项关于快速外显子组测序作为胎儿超声多种先天性异常诊断测试的前瞻性研究。
传统的基因检测（定量荧光 PCR [QF-PCR] 和单核苷酸多态性阵列）仅能诊断出约 40% 的超声异常胎儿。快速外显子组测序 (rES) 可能会提高这种诊断率，但包括胎儿表型的不确定性、变异解释、偶然的主动发现和快速周转时间等挑战。在这项研究中，我们在产前护理中实施了 rES 以提高诊断率。
更新日期：2020-07-06
中文翻译：
一项关于快速外显子组测序作为胎儿超声多种先天性异常诊断测试的前瞻性研究。
传统的基因检测（定量荧光 PCR [QF-PCR] 和单核苷酸多态性阵列）仅能诊断出约 40% 的超声异常胎儿。快速外显子组测序 (rES) 可能会提高这种诊断率，但包括胎儿表型的不确定性、变异解释、偶然的主动发现和快速周转时间等挑战。在这项研究中，我们在产前护理中实施了 rES 以提高诊断率。
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