Department of Genetics, Stanford University School of Medicine, Stanford, California, USA.
Fetal and Pregnancy Health Program, Lucile Packard Children's Hospital Stanford, Palo Alto, California, USA.
Prenat Diagn. 2021 Feb;41(3):362-367. doi: 10.1002/pd.5862. Epub 2020 Nov 18.
The aim of the study is to determine the prevalence of RASopathies in a polyhydramnios cohort selected by postnatal medical genetics evaluation.
In this retrospective study, we reviewed 622 pregnancies with polyhydramnios seen at Lucile Packard Children's Hospital between 2008 and 2017. The findings from 131 cases evaluated by Medical Genetics were included in our final analysis. Genetic testing information was extracted to determine the rate of chromosomal or single gene conditions focusing on the RASopathies. Additional variables collected were: maternal characteristics, ultrasound findings, and the severity and timing of diagnosis of polyhydramnios.
Postnatal genetic testing or clinical examination identified a genetic disorder in 63 (48.1%) cases, more than half (n = 33) of which had a single gene condition. Postnatal testing revealed an underlying RASopathy in 15 (11.5%) cases. An underlying RASopathy was significantly associated with the severity and timing of polyhydramnios (p < 0.05).
Focusing on a selected cohort postnatally evaluated by Medical Genetics, our study identified a chromosomal or genetic disorder in almost half of pregnancies complicated by polyhydramnios. Specifically, an underlying RASopathy was found in 11.5% of cases with 13/15 of these cases having additional ultrasound findings.
本研究旨在通过对接受产后医学遗传学评估的羊水过多患者队列进行研究，确定 RAS 相关疾病的患病率。
在这项回顾性研究中，我们对 2008 年至 2017 年间在露西尔·帕卡德儿童医院就诊的 622 例羊水过多患者进行了研究。对 131 例接受医学遗传学评估的病例进行了分析。我们提取了基因检测信息，以确定染色体或单基因疾病的发生率，重点是 RAS 相关疾病。收集的其他变量包括：母体特征、超声检查结果，以及羊水过多的严重程度和诊断时间。
产后基因检测或临床检查发现 63 例（48.1%）存在遗传障碍，其中超过一半（n=33）存在单基因疾病。15 例（11.5%）患者存在潜在的 RAS 相关疾病。潜在的 RAS 相关疾病与羊水过多的严重程度和诊断时间显著相关（p<0.05）。
在接受产后医学遗传学评估的选定患者队列中，本研究发现近一半羊水过多的妊娠存在染色体或遗传障碍。具体来说，在 15 例 RAS 相关疾病中，有 13 例存在额外的超声检查结果。
