Patterns of congenital anomalies among individuals with trisomy 13 in Texas.
Patterns of congenital anomalies among individuals with trisomy 13 in Texas.
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DOI：
10.1002/ajmg.a.62175
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发表时间：
2021-06
期刊：
影响因子：
--
通讯作者：
Agopian AJ
中科院分区：
文献类型：
--
作者：
Diaz D;Benjamin RH;Navarro Sanchez ML;Mitchell LE;Langlois PH;Canfield MA;Chen H;Scheuerle AE;Schaaf CP;Scott DA;Northrup H;Ray JW;McLean SD;Swartz MD;Ludorf KL;Lupo PJ;Agopian AJ
很少有基于人群的研究分析了13三体综合征患者中合并发生的出生缺陷模式。我们使用德克萨斯州出生缺陷登记处1999年至2014年期间分娩的数据，评估了736名13三体患者中任何一种、两种、三种或四种额外共同发生的出生缺陷的所有可能组合的频率。我们计算了每种组合的预期与预期的比率，并对已知的出生缺陷非特异性聚集的趋势进行了调整。为了解决活产和非活产之间的潜在确定差异，我们专门在活产中重复分析。与预期比率最大的缺陷组合是小头畸形、脑畸形（例如，前脑无裂畸形）、鼻畸形和多指畸形。正如预期的那样，最高的30个预期比中的大多数涉及与记录的13三体特征的组合，包括头皮缺陷（例如，皮肤发育不全）和心脏。仅限于活产的敏感性分析结果相似。我们的研究结果可能有助于进一步描绘13三体的表型谱，并可能为未来的研究提供信息，以改善筛查和咨询的条件。
Few population-based studies have analyzed patterns of co-occurring birth defects among those with trisomy 13. We evaluated the frequency of all possible combinations of any one, two, three, or four additional co-occurring birth defects among 736 individuals with trisomy 13 using data from the Texas Birth Defects Registry for deliveries during 1999–2014. We calculated the observed-to-expected ratio for each combination, adjusting for the known tendency for birth defects to cluster non-specifically. To address potential ascertainment differences among live births and non-live births, we repeated analyses specifically among live births. The combination of defects with the largest observed-to-expected ratio was microcephalus, reduction deformities of brain (e.g., holoprosencephaly), anomalies of nose, and polydactyly. As expected, most of the highest 30 observed-to-expected ratios involved combinations with documented features of trisomy 13, including defects of the scalp (e.g., aplasia cutis) and heart. Results were similar among sensitivity analyses restricted to live births. Our findings may help further delineate the phenotypic spectrum for trisomy 13 and may inform future research related to improving screening and counseling for the condition.
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影响因子：
5.2
作者：
WYLLIE, JP;WRIGHT, MJ;HUNTER, S
通讯作者：
HUNTER, S
影响因子：
3.5
作者：
ZOLL, B;WOLF, J;THORPE, B
通讯作者：
THORPE, B
影响因子：
2
作者：
Morris, Joan K.;Savva, George M.
通讯作者：
Savva, George M.
影响因子：
19.7
作者：
LEHMAN, CD;NYBERG, DA;LUTHY, DA
通讯作者：
LUTHY, DA
DOI：
10.1002/ajmg.1320370213
发表时间：
1990-10-01
期刊：
AMERICAN JOURNAL OF MEDICAL GENETICS
影响因子：
--
作者：
KHOURY, MJ;JAMES, LM;ERICKSON, JD
通讯作者：
ERICKSON, JD