Discordant results between conventional newborn screening and genomic sequencing in the BabySeq Project.
Discordant results between conventional newborn screening and genomic sequencing in the BabySeq Project.
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DOI：
10.1038/s41436-021-01146-5
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发表时间：
2021-07
期刊：
影响因子：
--
通讯作者：
BabySeq Project Team
中科院分区：
文献类型：
--
作者：
Wojcik MH;Zhang T;Ceyhan-Birsoy O;Genetti CA;Lebo MS;Yu TW;Parad RB;Holm IA;Rehm HL;Beggs AH;Green RC;Agrawal PB;BabySeq Project Team
新生儿筛查（NBS）的目的是确定新生儿是否存在可采取行动的、严重的、早发性疾病的风险，其中许多疾病是遗传性的。BabySeq项目将新生儿随机分配接受常规NBS或NBS加外显子组测序（ES），这些测序能够检测也可能诊断单基因疾病或指示遗传疾病风险的序列变异。因此，我们评估了ES和传统NBS结果在这一人群中的差异。我们比较了BabySeq项目中159名婴儿的NBS（包括听力筛查）和ES结果。如果发现任何表明疾病风险的异常结果，则婴儿被认为是“NBS阳性”，如果ES确定了单基因疾病风险或遗传诊断，则被认为是“ES阳性”。大多数婴儿（132/159，84%）NBS和ES阴性。只有一个婴儿是积极的同一障碍的两种方式。9名婴儿为NBS阳性/ES阴性，尽管其中7名随后被确定为假阳性。15名婴儿ES阳性/NBS阴性，所有这些都代表了NBS计划中不包括的遗传疾病的风险。没有遗传学的解释被确定为8名婴儿提到的听力屏幕。这些差异突出了信息的互补性，可以从NBS和ES在新生儿期收集。
Newborn screening (NBS) is performed to identify neonates at risk for actionable, severe, early-onset disorders, many of which are genetic. The BabySeq Project randomized neonates to receive conventional NBS or NBS plus exome sequencing (ES) capable of detecting sequence variants that may also diagnose monogenic disease or indicate genetic disease risk. We therefore evaluated how ES and conventional NBS results differ in this population. We compared results of NBS (including hearing screens) and ES for 159 infants in the BabySeq Project. Infants were considered “NBS positive” if any abnormal result was found indicating disease risk and “ES positive” if ES identified a monogenic disease risk or a genetic diagnosis. Most infants (132/159, 84%) were NBS and ES negative. Only one infant was positive for the same disorder by both modalities. Nine infants were NBS positive/ES negative, though seven of these were subsequently determined to be false positives. Fifteen infants were ES positive/NBS negative, all of which represented risk of genetic conditions that are not included in NBS programs. No genetic explanation was identified for 8 infants referred on the hearing screen. These differences highlight the complementarity of information that may be gleaned from NBS and ES in the newborn period.
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影响因子：
1.8
作者：
Murry, Jaclyn B.;Machini, Kalotina;Rehm, Heidi L.
通讯作者：
Rehm, Heidi L.
影响因子：
1.9
作者：
Parad, Richard B.;Kaler, Stephen G.;Bhattacharjee, Arindam
通讯作者：
Bhattacharjee, Arindam
影响因子：
3.8
作者：
Verbeeten, Kate C.;Lamhonwah, Anne-Marie;Geraghty, Michael T.
通讯作者：
Geraghty, Michael T.
DOI：
10.1007/8904_2017_45
发表时间：
2018-01-01
期刊：
JIMD REPORTS, VOL 39
影响因子：
--
作者：
Wojcik, Monica H.;Wierenga, Klaas J.;Agrawal, Pankaj B.
通讯作者：
Agrawal, Pankaj B.
影响因子：
9.8
作者：
Roman, Tamara S.;Crowley, Stephanie B.;Berg, Jonathan S.
通讯作者：
Berg, Jonathan S.