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如何进行中期妊娠畸形筛查。

How to do a second trimester anomaly scan.

机构信息

Department of Obstetrics and Gynaecology, University of Tuebingen, Calwerstrasse 7, 72076, Tübingen, Germany.

出版信息

Arch Gynecol Obstet. 2023 Apr;307(4):1285-1290. doi: 10.1007/s00404-022-06569-2. Epub 2022 May 11.

DOI:10.1007/s00404-022-06569-2
PMID:35543741
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10023640/
Abstract

A systematic evaluation of the fetal anatomy as part of the second trimester ultrasound examination in pregnancy is useful in detecting pregnancy complications, fetal abnormalities, and genetic diseases. We aim to illustrate the basic and detailed second trimester scan, according to current international and national guidelines, as well as to our own every-day practice in the Department for Prenatal Diagnosis at the University of Tübingen, Germany.

摘要

对妊娠中期超声检查中胎儿解剖结构进行系统评估有助于发现妊娠并发症、胎儿异常和遗传性疾病。我们旨在根据当前国际和国家指南以及我们在德国图宾根大学产前诊断科的日常实践,说明基本和详细的中期扫描。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a1c3/10023640/4b99c5c09a49/404_2022_6569_Fig1a_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a1c3/10023640/4b99c5c09a49/404_2022_6569_Fig1a_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a1c3/10023640/4b99c5c09a49/404_2022_6569_Fig1a_HTML.jpg

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本文引用的文献

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Cochrane Database Syst Rev. 2024 May 9;5(5):CD014715. doi: 10.1002/14651858.CD014715.pub2.
2
AIUM Practice Parameter for the Performance of Detailed Second- and Third-Trimester Diagnostic Obstetric Ultrasound Examinations.美国超声医学学会孕中期和孕晚期详细诊断性产科超声检查的实践参数
J Ultrasound Med. 2019 Dec;38(12):3093-3100. doi: 10.1002/jum.15163.
3
Systematic review and meta-analysis of the performance of second-trimester screening for prenatal detection of congenital heart defects.
胎儿结构异常中显性单基因疾病的非侵入性产前检测:一项临床可行性研究。
Arch Gynecol Obstet. 2024 Dec;310(6):2943-2955. doi: 10.1007/s00404-024-07800-y. Epub 2024 Nov 16.
4
Investigation of the genetic and clinical features of laterality disorders in prenatal diagnosis: discovery of a novel compound heterozygous mutation in the DNAH11 gene.产前诊断中偏侧性疾病的遗传与临床特征研究:DNAH11基因新型复合杂合突变的发现
Arch Gynecol Obstet. 2024 Aug;310(2):695-704. doi: 10.1007/s00404-024-07574-3. Epub 2024 Jun 9.
5
Selection of prenatal screening with nuchal translucency > 95th centile and below 99th centile: a 4-year observational study with real-world data.颈项透明层厚度大于第 95 百分位数且小于第 99 百分位数的产前筛查选择:一项具有真实世界数据的 4 年观察性研究。
Arch Gynecol Obstet. 2024 Sep;310(3):1779-1785. doi: 10.1007/s00404-024-07500-7. Epub 2024 Apr 16.
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Chromosomal microarray testing yield in 829 cases of microcephaly: a clinical characteristics-based analysis for prenatal and postnatal cases.829 例小头畸形的染色体微阵列检测结果:基于临床特征的产前和产后病例分析。
Arch Gynecol Obstet. 2024 Sep;310(3):1547-1554. doi: 10.1007/s00404-024-07388-3. Epub 2024 Mar 18.
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Spectrum of congenital anomalies of the kidney and urinary tract (CAKUT) including renal parenchymal malformations during fetal life and the implementation of prenatal exome sequencing (WES).胎儿期肾脏和泌尿道先天畸形(CAKUT)的范围,包括肾实质畸形,以及产前外显子组测序(WES)的实施。
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