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？ - Suppr

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超能文献

Further genetic testing in fetuses with increased nuchal translucency and a normal array: A targeted panel or exome?

作者信息

Yang Yan-Dong, Li Dong-Zhi

机构信息

Ultrasound Department, The Sixth Affiliated Hospital of Sun Yat-sen University, Guangzhou, Guangdong, China.

Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou, Guangdong, China.

出版信息

Taiwan J Obstet Gynecol. 2022 May;61(3):562-563. doi: 10.1016/j.tjog.2022.03.030.

DOI:10.1016/j.tjog.2022.03.030

PMID:35595462

Abstract

摘要

相似文献

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.

[Prospective cohort study of fetal nuchal translucency in first-trimester and pregnancy outcome].孕早期胎儿颈部透明带与妊娠结局的前瞻性队列研究

Zhonghua Fu Chan Ke Za Zhi. 2020 Feb 25;55(2):94-99. doi: 10.3760/cma.j.issn.0529-567X.2020.02.007.

Temporal relationship between increased nuchal translucency and enlarged jugular lymphatic sac.颈后透明带增厚与颈静脉淋巴囊增大之间的时间关系。

Obstet Gynecol. 2006 Oct;108(4):846-53. doi: 10.1097/01.AOG.0000238340.64966.81.

The utility of detailed first trimester ultrasound examination in abnormal fetal nuchal translucency.孕早期详细超声检查在异常胎儿颈项透明层中的应用。

Prenat Diagn. 2008 Nov;28(11):1037-41. doi: 10.1002/pd.2119.

[Increased nuchal translucency and cystic hygroma in the first trimester: prenatal diagnosis and neonatal outcome].孕早期颈项透明层增厚及囊性水瘤：产前诊断与新生儿结局

Gynecol Obstet Fertil. 2005 Oct;33(10):750-4. doi: 10.1016/j.gyobfe.2005.07.031.

Prenatal diagnosis of pathogenic genomic imbalance in fetuses with increased nuchal translucency but normal karyotyping using chromosomal microarray.使用染色体微阵列技术对颈部透明带增厚但核型正常的胎儿进行致病性基因组失衡的产前诊断。

Hong Kong Med J. 2019 Aug;25 Suppl 5(4):30-32.

Nuchal translucency thickness in fetuses with chromosomal translocation at 11-12 weeks of gestation.妊娠11至12周时染色体易位胎儿的颈部半透明厚度。

Obstet Gynecol. 2005 May;105(5 Pt 1):1058-62. doi: 10.1097/01.AOG.0000158862.84467.d7.

Nuchal translucency thickness and outcome in chromosome translocation diagnosed in the first trimester.孕早期诊断的染色体易位中颈部半透明厚度与结局

Prenat Diagn. 2001 Sep;21(9):726-8.

Fetal karyotyping in twin pregnancies: selection of technique by measurement of fetal nuchal translucency.双胎妊娠的胎儿核型分析：通过测量胎儿颈部透明带选择技术。

Br J Obstet Gynaecol. 1996 Sep;103(9):887-90. doi: 10.1111/j.1471-0528.1996.tb09907.x.

If nuchal translucency screening is combined with first-trimester serum screening the need for fetal karyotyping decreases.如果将颈部透明带筛查与孕早期血清筛查相结合，胎儿染色体核型分析的需求就会减少。

Acta Obstet Gynecol Scand. 2006;85(5):534-8. doi: 10.1080/00016340500523701.

引用本文的文献

When NIPT meets WES, prenatal diagnosticians face the dilemma: genetic etiological analysis of 2,328 cases of NT thickening and follow-up of pregnancy outcomes.当无创产前基因检测（NIPT）遇上全外显子测序（WES）时，产前诊断医生面临两难境地：对2328例颈项透明层（NT）增厚病例进行遗传病因分析及妊娠结局随访。

Front Genet. 2023 Aug 2;14:1227724. doi: 10.3389/fgene.2023.1227724. eCollection 2023.

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

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

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