Whole-exome sequencing for diagnosis of Peters-plus syndrome after prenatal diagnosis of recurrent low PAPP-A and multiple fetal anomalies in two consecutive pregnancies.

全外显子组测序用于在连续两次妊娠中产前诊断复发性低 PAPP - A 和多个胎儿畸形后诊断 Peters - plus 综合征。

• 发表时间: May 2019 7
• 来源期刊: J Neonatal Perinatal Med
• DOI: 10.3233/NPM-181854
• PMID: 31081795
• 文章类型: Journal Article
• 作者列表: Kamalapathy P,Fonda Allen JS,Macri CJ,Lawrence AK,Regier DS,Rubio EI

关键词: Peters-plus syndrome; fetal MRI; low PAPP-A; prenatal diagnosis; ultrasound anomalies; whole-exome sequencing

Abstract

 We report a case of two consecutive pregnancies in the same couple presenting with very low pregnancy-associated plasma protein A (PAPP-A), with both pregnancies affected by multiple anomalies of a similar phenotype identified during mid-trimester ultrasound, and eventual diagnosis of Peters-plus syndrome. This case is important in expanding the differential for very low PAPP-A. It also demonstrates the diagnostic value of whole-exome sequencing (WES) after prenatal diagnosis of recurrent fetal ultrasonographic findings. The importance and complexity of providing patient education to enable informed consent for next generation sequencing technologies is discussed.

摘要

我们报告了在同一对夫妇中连续两次怀孕的病例，其妊娠相关血浆蛋白A（PAPP-A）非常低，在妊娠中期超声检查中，两次妊娠都受到相似表型的多种异常的影响，并最终诊断出Peters-plus综合征.这种情况对于扩展非常低的PAPP-A的微分很重要。它还证明了全外显子组测序（WES）在产前诊断复发性胎儿超声检查结果后的诊断价值。讨论了为下一代测序技术提供患者教育以实现知情同意的重要性和复杂性。