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胎儿超声检查发现整倍体性颈部透明带增厚的产前诊断（I）：努南综合征：产前诊断与基因检测

Prenatal Diagnosis of Euploid Increased Nuchal Translucency on Fetal Ultrasound (I): Noonan Syndrome: Prenatal Diagnosis and Genetic Testing.

作者信息

Chen Chih-Ping

机构信息

Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan.

Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.

出版信息

J Med Ultrasound. 2022 Nov 9;30(4):257-260. doi: 10.4103/jmu.jmu_78_22. eCollection 2022 Oct-Dec.

DOI:10.4103/jmu.jmu_78_22
PMID:36844761
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9944828/
Abstract

Prenatal diagnosis of euploid increased nuchal translucency (NT) remains a challenge to obstetricians and genetic counselors although increased euploid NT at prenatal diagnosis can be associated with a favorable outcome. Prenatal diagnosis of euploid increased NT should include a differential diagnosis of pathogenetic copy number variants and RASopathy disorders (RDs) including Noonan syndrome (NS). Therefore, chromosomal microarray analysis, whole-exome sequencing, RD testing, and protein-tyrosine phosphatase, nonreceptor type 11 () gene testing may be necessary under such a circumstance. In this report, a comprehensive review of NS with its prenatal diagnosis and genetic testing is presented.

摘要

尽管产前诊断时整倍体胎儿颈部半透明带（NT）增厚可能与良好结局相关，但对产科医生和遗传咨询师而言，整倍体胎儿NT增厚的产前诊断仍是一项挑战。整倍体胎儿NT增厚的产前诊断应包括对致病性拷贝数变异和RAS病（RDs）（包括努南综合征（NS））进行鉴别诊断。因此，在这种情况下，可能需要进行染色体微阵列分析、全外显子测序、RD检测以及蛋白酪氨酸磷酸酶非受体11型（PTPN11）基因检测。在本报告中，将对NS及其产前诊断和基因检测进行全面综述。

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本文引用的文献

1
Further genetic testing in fetuses with increased nuchal translucency and a normal array: A targeted panel or exome?对颈部半透明厚度增加且染色体核型正常的胎儿进行进一步基因检测：靶向基因panel检测还是外显子组测序？
Taiwan J Obstet Gynecol. 2022 May;61(3):562-563. doi: 10.1016/j.tjog.2022.03.030.
2
Prenatal case of RIT1 mutation associated Noonan syndrome by whole exome sequencing (WES) and review of the literature.全外显子测序（WES）产前诊断 RIT1 突变相关努南综合征病例并文献复习。
Taiwan J Obstet Gynecol. 2022 May;61(3):535-538. doi: 10.1016/j.tjog.2022.03.025.
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Diagnostic yield of exome sequencing for prenatal diagnosis of fetal structural anomalies: A systematic review and meta-analysis.外显子组测序在产前诊断胎儿结构畸形中的诊断效能：系统评价和荟萃分析。
Prenat Diagn. 2022 May;42(6):662-685. doi: 10.1002/pd.6115. Epub 2022 May 7.
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Defining RASopathy.定义 RAS opathy。
Dis Model Mech. 2022 Feb 1;15(2). doi: 10.1242/dmm.049344.
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The RRAS2 pathogenic variant p.Q72L produces severe Noonan syndrome with hydrocephalus: A case report.致病性 RRAS2 变异 p.Q72L 导致伴有脑积水的重度努南综合征：病例报告。
Am J Med Genet A. 2022 Jan;188(1):364-368. doi: 10.1002/ajmg.a.62523. Epub 2021 Oct 14.
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A prospective study on rapid exome sequencing as a diagnostic test for multiple congenital anomalies on fetal ultrasound.前瞻性研究快速外显子组测序作为胎儿超声多种先天性畸形的诊断检测方法。
Prenat Diagn. 2020 Sep;40(10):1300-1309. doi: 10.1002/pd.5781. Epub 2020 Jul 20.
7
Rapid detection by hydrops panel of Noonan syndrome with PTPN11 mutation (p.Thr73Ile) and persistent thrombocytopenia.通过水液潴留面板快速检测具有 PTPN11 突变（p.Thr73Ile）和持续性血小板减少症的努南综合征。
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Microarray and RASopathy-disorder testing in fetuses with increased nuchal translucency.超声检查胎儿颈项透明层增厚与微阵列芯片和 RAS 相关疾病检测。
Ultrasound Obstet Gynecol. 2020 Mar;55(3):383-390. doi: 10.1002/uog.20352.
9
Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study.超声检查发现胎儿结构畸形的产前外显子组测序分析（PAGE）：一项队列研究。
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Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study.全外显子组测序在胎儿结构畸形评估中的应用：一项前瞻性队列研究。
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