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首页> 外文期刊>American journal of medical genetics, Part A >Identification of a prenatal profile of Cornelia de Lange syndrome (CdLS): A review of 53 CdLS pregnancies
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Identification of a prenatal profile of Cornelia de Lange syndrome (CdLS): A review of 53 CdLS pregnancies

机译：识别Cornelia de Lange综合征（CdLS）的产前特征：回顾53例CdLS妊娠

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Cornelia de Lange Syndrome (CdLS) is a multisystem developmental disorder characterized by growth retardation, cognitive impairment, external and internal structural malformations, and characteristic facial features. Currently, there are no definitive prenatal screening measures that lead to the diagnosis of CdLS. In this study, documented prenatal findings in CdLS syndrome were analyzed towards the development of a prenatal profile predictive of CdLS. We reviewed 53 cases of CdLS (29 previously reported and 24 unreported) in which prenatal observations/findings were available. The review of these cases revealed a pattern of sonographic findings, including obvious associated structural defects, growth restriction, as well as a more subtle, but strikingly characteristic, facial profile, and suggestive of a recognizable prenatal ultrasonographic profile for CdLS. In addition, the maternal serum marker, PAPP-A, may be reduced and fetal nuchal translucency (NT) may be increased in some pregnancies when measured at an appropriate gestational age. In conclusion, CdLS can be prenatally diagnosed or readily ruled out in a family with a known mutation in a CdLS gene. The characteristic ultrasonographic profile may allow for prenatal diagnosis of CdLS in (1) subsequent pregnancies to a couple with a prior child with CdLS in whom a mutation has not been identified or (2) when there are unexplained pregnancy signs of fetal abnormality, such as oligo- or polyhydramnios, a low maternal serum PAPP-A level and/or increased NT, fetal growth retardation, or structural anomalies consistent with CdLS.
机译：Cornelia de Lange综合征（CdLS）是一种多系统发育障碍，其特征在于生长发育迟缓，认知障碍，外部和内部结构畸形以及特征性的面部特征。当前，尚无明确的产前筛查措施可导致CdLS的诊断。在这项研究中，对CdLS综合征的产前检查结果进行了分析，以预测CdLS的产前概况。我们回顾了53例CdLS（以前报道过29例，未报道过24例），其中有产前观察/发现。对这些病例的回顾揭示了超声检查结果的模式，包括明显的相关结构缺陷，生长受限以及更微妙但令人惊讶的特征性面部轮廓，提示可识别的CdLS产前超声检查轮廓。此外，在适当的胎龄下进行测量时，孕妇血清中的血清标志物PAPP-A可能会减少，胎颈半透明性（NT）可能会增加。总之，CdLS可以在具有CdLS基因已知突变的家庭中进行产前诊断或排除。超声检查的特征性特征可允许在（1）先前与未发现突变的CdLS的夫妇的后续妊娠中对CdLS进行产前诊断，或（2）当存在无法解释的胎儿异常妊娠迹象时，例如羊水过少或羊水过少，孕妇血清PAPP-A水平低和/或NT增加，胎儿发育迟缓或与CdLS一致的结构异常。

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