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首页> 外文期刊>American journal of medical genetics, Part A >Prenatal diagnosis of micrognathia in 41 fetuses: Retrospective analysis of outcome and genetic etiologies
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Prenatal diagnosis of micrognathia in 41 fetuses: Retrospective analysis of outcome and genetic etiologies

机译：41胎儿胎儿的产前诊断：结果和遗传病因的回顾性分析

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Abstract Fetal micrognathia can be detected early in pregnancy. Prognosis of micrognathia depends on the risk of respiratory distress at birth and on the long‐term risk of intellectual disability. The purpose of this study was to evaluate the long‐term prognosis of fetuses with prenatal diagnosis of micrognathia by estimating the prevalence and the severity of confirmed genetic diagnosis in our cohort. Our retrospective study included 41 fetuses with prenatal diagnosis of micrognathia referred to the multidisciplinary centers for prenatal diagnosis in Nice and Marseille, France, between 2006 and 2016. Fetal micrognathia was associated with cleft palate in 27 cases. A genetic cause was confirmed in 21 cases (67%). A chromosomal abnormality was present in 12 cases, including three copy‐number variations diagnosed by array CGH. Monogenic disorders were identified in nine cases, most often after birth. Fetuses with family history of micrognathia or Pierre Robin sequence had a favorable outcome. Prognosis was good for the fetuses without associated findings and normal chromosomal analysis, with the exception of one case with a postnatal diagnosis of mandibulofacial dysostosis with microcephaly. Prognostic was poor for the fetuses with additional ultrasound anomalies, as only 5 out of 28 children had a good outcome. Prenatal diagnosis of micrognathia is an indicator of a possible fetal pathology justifying multidisciplinary management. Our study confirms the necessity of performing prenatal array CGH. Use of high‐throughput gene sequencing in prenatal period could improve diagnostic performance, prenatal counseling, and adequate postnatal care.
机译：摘要胎儿MicrognAthia可以在怀孕早期进行检测。 MicroMathia的预后取决于出生时呼吸窘迫的风险以及智力疾病的长期风险。本研究的目的是评估胎儿的长期预后，通过估计我们的队列中确诊的遗传诊断的患病率和严重程度来评估胎儿的产前诊断。我们的回顾性研究包括41项胎儿诊断MicrognAthia的产前诊断，所述Microbathia在2006年至2016年期间，法国尼斯尼斯和马赛尼斯的产前诊断中心诊断。胎儿MicrognAthia在27例中与腭裂有关。在21例（67％）中确认了遗传原因。 12例中存在染色体异常，包括阵列CGH诊断的三种拷贝数变异。在九种情况下鉴定了单子生成疾病，通常在出生后最常见。具有MicrognAthia或Pierre Robin序列的家族史的胎儿具有有利的结果。预后对于没有相关发现的胎儿和正常染色体分析，对胎儿具有良好的胎儿，除了一个案例诊断Microcephaly的枝条缺血性缺陷。预后对于胎儿的胎儿具有额外的超声异常，只有28名儿童中只有5个具有良好结果。 MicrognAthia的产前诊断是可能的胎儿病理证明多学科管理的指标。我们的研究证实了进行产前阵列CGH的必要性。产前期间高通量基因测序可以改善诊断性能，产前咨询和适当的产后护理。

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