Smith-Lemli-Opitz syndrome carrier frequency and estimates of in utero mortality rates
Smith-Lemli-Opitz syndrome carrier frequency and estimates of in utero mortality rates
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DOI：
10.1002/pd.5018
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发表时间：
2017-04-01
影响因子：
3
通讯作者：
Goldberg, James D.
中科院分区：
文献类型：
--
作者：
Lazarin, Gabriel A.;Haque, Imran S.;Goldberg, James D.
目的将 Smith-Lemli-Opitz 综合征 (SLOS) 的个体等位基因频率和总携带频率制成表格，并比较预期出生率与观察到的出生发生率。方法作为扩大的携带者筛查小组的一部分，对总共 262399 名没有已知迹象或 SLOS 携带者状态可能性增加的个体（主要来自美国）进行了 SLOS 突变筛查。对结果进行回顾性分析，以估计多个种族群体的携带频率。然后将从现有文献中获得的 SLOS 出生发生率与这些数据进行比较，以估计 SLOS 对胎儿存活率的影响。结果 Smith-Lemli-Opitz 综合征携带者频率在德系犹太人（43 人中有 1 人）和北欧人（54 人中有 1 人）中最高。将预测的出生发生率与已发表文献中观察到的发生率进行比较表明，大约 42% 至 88% 的受影响受孕者会经历产前死亡。结论 Smith-Lemli-Opitz 综合征在某些人群中相对常见，由于其对产前和产后发病率和死亡率的影响，值得考虑进行常规筛查。 (c) 2017 年作者。 John Wiley & Sons, Ltd. 出版的《产前诊断》
ObjectiveTo tabulate individual allele frequencies and total carrier frequency for Smith-Lemli-Opitz syndrome (SLOS) and compare expected versus observed birth incidences.MethodsA total of 262399 individuals with no known indication or increased probability of SLOS carrier status, primarily US based, were screened for SLOS mutations as part of an expanded carrier screening panel. Results were retrospectively analyzed to estimate carrier frequencies in multiple ethnic groups. SLOS birth incidences obtained from existing literature were then compared with these data to estimate the effect of SLOS on fetal survival.ResultsSmith-Lemli-Opitz syndrome carrier frequency is highest in Ashkenazi Jews (1 in 43) and Northern Europeans (1 in 54). Comparing predicted birth incidence with that observed in published literature suggests that approximately 42% to 88% of affected conceptuses experience prenatal demise.ConclusionSmith-Lemli-Opitz syndrome is relatively frequent in certain populations and, because of its impact on prenatal and postnatal morbidity and mortality, merits consideration for routine screening. (c) 2017 The Authors. Prenatal Diagnosis published by John Wiley & Sons, Ltd.