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孕早期超声检查发现的胎儿手部异常:两例报告

Fetal Hand Abnormalities in the First-Trimester Scan: A Report of Two Cases.

作者信息

Katsanevakis Emmanouil, Tzitzikalakis Caterina, Karagioti Natalia, Tziomaki Maria, Perdikaris Panagiotis, Papanikolaou Anna, Gkogkos Panagiotis, Tsagkas Nikolaos

机构信息

Obstetrics and Gynecology, United Lincolnshire Hospitals NHS Trust, Lincoln, GBR.

Obstetrics and Gynecology, Chesterfield Royal Hospital, Chesterfield, GBR.

出版信息

Cureus. 2022 Mar 15;14(3):e23189. doi: 10.7759/cureus.23189. eCollection 2022 Mar.

DOI:10.7759/cureus.23189
PMID:35444909
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9009976/
Abstract

Two cases of fetal hand abnormalities are presented in this report. The first one is a case of unilateral fetal syndactyly detected in the first trimester routine scan, resulting in the early diagnosis of a severe genetic condition by invasive testing and early termination of pregnancy. By doing so, we ensured that the woman was managed in the most appropriate way. In the second case, we describe a fetus with bilateral hand polydactyly, which was combined with a cardiac defect - incompatible with extrauterine life. This was once again diagnosed during the first trimester scan. An uncomplicated termination of pregnancy was achieved in the first trimester of pregnancy.

摘要

本报告介绍了两例胎儿手部异常病例。第一例是在孕早期常规扫描中检测到的单侧胎儿并指畸形,通过侵入性检测早期诊断出严重的遗传疾病,并早期终止妊娠。通过这样做,我们确保了该名女性得到了最恰当的处理。在第二例中,我们描述了一名患有双侧手部多指畸形的胎儿,其合并有心脏缺陷——与宫外生活不相容。这同样是在孕早期扫描时诊断出来的。在妊娠早期顺利完成了终止妊娠。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/baf8/9009976/9eee8442dd21/cureus-0014-00000023189-i05.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/baf8/9009976/bb764900c94a/cureus-0014-00000023189-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/baf8/9009976/227f326c1e53/cureus-0014-00000023189-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/baf8/9009976/55652dbeba5b/cureus-0014-00000023189-i03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/baf8/9009976/e738609f0246/cureus-0014-00000023189-i04.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/baf8/9009976/9eee8442dd21/cureus-0014-00000023189-i05.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/baf8/9009976/bb764900c94a/cureus-0014-00000023189-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/baf8/9009976/227f326c1e53/cureus-0014-00000023189-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/baf8/9009976/55652dbeba5b/cureus-0014-00000023189-i03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/baf8/9009976/e738609f0246/cureus-0014-00000023189-i04.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/baf8/9009976/9eee8442dd21/cureus-0014-00000023189-i05.jpg

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本文引用的文献

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Impact of introducing cell-free DNA screening into clinical care on first trimester ultrasound.将游离 DNA 筛查引入临床护理对早孕期超声的影响。
Prenat Diagn. 2022 Feb;42(2):254-259. doi: 10.1002/pd.6086. Epub 2022 Jan 10.
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Diagnosis of fetal non-chromosomal abnormalities on routine ultrasound examination at 11-13 weeks' gestation.
在 11-13 孕周的常规超声检查中诊断胎儿非染色体异常。
Ultrasound Obstet Gynecol. 2019 Oct;54(4):468-476. doi: 10.1002/uog.20844.
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Holt-Oram Syndrome With Multiple Cardiac Abnormalities.伴有多种心脏异常的 Holt-Oram 综合征
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Treatment of congenital syndactyly of the fingers.先天性并指畸形的治疗。
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Ellis van creveld syndrome with synpolydactyly, an antenatal diagnosis with postnatal correlation.伴有并指多指畸形的埃利斯-范克里维尔德综合征,产前诊断及产后对照
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