Association of deep phenotyping with diagnostic yield of prenatal exome sequencing for fetal brain abnormalities.
Association of deep phenotyping with diagnostic yield of prenatal exome sequencing for fetal brain abnormalities.
复制标题
深层表型与胎儿脑异常的产前外显节测序的诊断产量的关联。
DOI：
10.1016/j.gim.2023.100915
复制
发表时间：
2023-10
影响因子：
8.8
通讯作者：
Vora, Neeta L.
中科院分区：
文献类型：
--
作者：
Drexler, Kathleen A.;Talati, Asha N.;Gilmore, Kelly L.;Veazey, Rachel V.;Powell, Bradford C.;Weck, Karen E.;Davis, Erica E.;Vora, Neeta L.
评估与标准表型分析相比，胎儿大脑异常 (FBA) 的深度产前表型分析是否可以提高三外显子组测序 (ES) 的诊断率。多中心产前 ES 研究的回顾性探索性分析。如果诊断出 FBA 并随后发现微阵列正常，则参与者符合资格。深度表型分析被定义为基于靶向超声加上产前/产后磁共振成像、尸检和/或其他受影响家庭成员的已知表型的表型。标准表型分析仅基于靶向超声。 FBA 根据产前超声的主要大脑发现进行分类。通过可用的表型分析以及诊断的 FBA，将 ES 结果呈阳性的病例与阴性结果的病例进行比较。总共鉴定出 76 例 FBA 三人组，其中 25 例（33%）ES 结果呈阳性，51 例（67%）呈阴性结果。深度表型分析的个体模式与 ES 诊断结果无关。最常见的 FBA 是后颅窝异常和中线缺陷。神经管缺陷与 ES 结果阴性显着相关（0% vs 22%，P = .01）。在这个小队列中，深度表型分析与 FBA 的 ES 诊断率增加无关。神经管缺陷与 ES 结果阴性相关。
To evaluate whether deep prenatal phenotyping of fetal brain abnormalities (FBAs) increases diagnostic yield of trio-exome sequencing (ES) compared with standard phenotyping. Retrospective exploratory analysis of a multicenter prenatal ES study. Participants were eligible if an FBA was diagnosed and subsequently found to have a normal microarray. Deep phenotyping was defined as phenotype based on targeted ultrasound plus prenatal/post-natal magnetic resonance imaging, autopsy, and/or known phenotypes of other affected family members. Standard phenotyping was based on targeted ultrasound alone. FBAs were categorized by major brain findings on prenatal ultrasound. Cases with positive ES results were compared with those that have negative results by available phenotyping, as well as diagnosed FBAs. A total of 76 trios with FBAs were identified, of which 25 (33%) cases had positive ES results and 51 (67%) had negative results. Individual modalities of deep phenotyping were not associated with diagnostic ES results. The most common FBAs identified were posterior fossa anomalies and midline defects. Neural tube defects were significantly associated with receipt of a negative ES result (0% vs 22%, P = .01). Deep phenotyping was not associated with increased diagnostic yield of ES for FBA in this small cohort. Neural tube defects were associated with negative ES results.
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DOI：
10.1038/gim.2017.33
发表时间：
2017-11
期刊：
Genetics in medicine : official journal of the American College of Medical Genetics
影响因子：
--
作者：
Vora NL;Powell B;Brandt A;Strande N;Hardisty E;Gilmore K;Foreman AKM;Wilhelmsen K;Bizon C;Reilly J;Owen P;Powell CM;Skinner D;Rini C;Lyerly AD;Boggess KA;Weck K;Berg JS;Evans JP
通讯作者：
Evans JP
DOI：
10.1002/ajmg.c.31989
发表时间：
2022-06
影响因子：
3.1
作者：
Dhombres, Ferdinand;Morgan, Patricia;Chaudhari, Bimal P.;Filges, Isabel;Sparks, Teresa N.;Lapunzina, Pablo;Roscioli, Tony;Agarwal, Umber;Aggarwal, Shagun;Beneteau, Claire;Cacheiro, Pilar;Carmody, Leigh C.;Collardeau-Frachon, Sophie;Dempsey, Esther A.;Dufke, Andreas;Duyzend, Michael Henri;el Ghosh, Mirna;Giordano, Jessica L.;Glad, Ragnhild;Grinfelde, Ieva;Iliescu, Dominic G.;Ladewig, Markus S.;Munoz-Torres, Monica C.;Pollazzon, Marzia;Radio, Francesca Clementina;Rodo, Carlota;Silva, Raquel Gouveia;Smedley, Damian;Sundaramurthi, Jagadish Chandrabose;Toro, Sabrina;Valenzuela, Irene;Vasilevsky, Nicole A.;Wapner, Ronald J.;Zemet, Roni;Haendel, Melissa A.;Robinson, Peter N.
通讯作者：
Robinson, Peter N.
影响因子：
168.9
作者：
Petrovski, Slave;Aggarwal, Vimla;Wapner, Ronald J.
通讯作者：
Wapner, Ronald J.
影响因子：
3
作者：
Aggarwal, Shagun;Vineeth, Venugopal Satidevi;Dalal, Ashwin
通讯作者：
Dalal, Ashwin
影响因子：
1.5
作者：
Hibbeln, John F.;Shors, Stephanie M.;Byrd, Sharon E.
通讯作者：
Byrd, Sharon E.