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一名具有基因突变和基因变异的胎儿非免疫性胎儿水肿的自然消退

Spontaneous resolution of nonimmune hydrops fetalis in a fetus with gene mutation and gene variants.

作者信息

Hurni Yannick, Marangoni Martina, Garofalo Giulia, Cassart Marie, Tomasi Lisa, Vandernoot Isabelle, Smits Guillaume, Gounongbé Caroline

机构信息

Department of Fetal Medicine CHU Saint-Pierre Brussels Belgium.

Center of Human Genetics Hôpital Erasme Université Libre de Bruxelles Brussels Belgium.

出版信息

Clin Case Rep. 2021 Aug 10;9(8):e04624. doi: 10.1002/ccr3.4624. eCollection 2021 Aug.


DOI:10.1002/ccr3.4624
PMID:34401172
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8353418/
Abstract

In cases of fetal hydrops, searching for an etiology is essential to evaluate the fetal prognosis and propose the most appropriate management.

摘要

在胎儿水肿的病例中,寻找病因对于评估胎儿预后和提出最合适的治疗方案至关重要。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5e5f/8353418/e5ac64d3de33/CCR3-9-e04624-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5e5f/8353418/2bb49c986693/CCR3-9-e04624-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5e5f/8353418/4327b5163c3a/CCR3-9-e04624-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5e5f/8353418/e5ac64d3de33/CCR3-9-e04624-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5e5f/8353418/2bb49c986693/CCR3-9-e04624-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5e5f/8353418/4327b5163c3a/CCR3-9-e04624-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5e5f/8353418/e5ac64d3de33/CCR3-9-e04624-g004.jpg

相似文献

[1]
Spontaneous resolution of nonimmune hydrops fetalis in a fetus with gene mutation and gene variants.

Clin Case Rep. 2021-8-10

[2]
Society for maternal-fetal medicine (SMFM) clinical guideline #7: nonimmune hydrops fetalis.

Am J Obstet Gynecol. 2014-12-31

[3]
Cost-Effectiveness of Exome Sequencing versus Targeted Gene Panels for Prenatal Diagnosis of Fetal Effusions and Non-Immune Hydrops Fetalis.

Am J Obstet Gynecol MFM. 2022-11

[4]
A Case of Nonimmune Hydrops Fetalis Caused by Homozygous α-Thalassemia.

Turk J Haematol. 2013-3-5

[5]
Midaortic syndrome in the fetus and premature newborn: a new etiology of nonimmune hydrops fetalis and reversible fetal cardiomyopathy.

Pediatrics. 2003-6

[6]
Percutaneous ultrasound-guided fetal blood sampling in the management of nonimmune hydrops fetalis.

Am J Obstet Gynecol. 1987-7

[7]
Fetal cardiac troponin T as a marker of poor prognosis in nonimmune hydrops fetalis.

Fetal Diagn Ther. 2009

[8]
A systematic review of monogenic etiologies of nonimmune hydrops fetalis.

Genet Med. 2021-1

[9]
Fetal blood sampling in the assessment of acute nonimmune hydrops fetalis.

J Med. 1995

[10]
Nonimmune hydrops fetalis management from the perspective of fetal cardiologists: A single tertiary center experience from Egypt.

J Neonatal Perinatal Med. 2021

本文引用的文献

[1]
Non-immune hydrops fetalis was rare in Sweden during 1997-2015, but cases were associated with complications and poor prognosis.

Acta Paediatr. 2020-12

[2]
Tooth defects of EEC and AEC syndrome caused by heterozygous TP63 mutations in three Chinese families and genotype-phenotype correlation analyses of TP63-related disorders.

Mol Genet Genomic Med. 2019-5-2

[3]
Delineation of dominant and recessive forms of LZTR1-associated Noonan syndrome.

Clin Genet. 2019-6

[4]
Predicting Splicing from Primary Sequence with Deep Learning.

Cell. 2019-1-17

[5]
Dominant Noonan syndrome-causing LZTR1 mutations specifically affect the Kelch domain substrate-recognition surface and enhance RAS-MAPK signaling.

Hum Mol Genet. 2019-3-15

[6]
Outcomes following antenatal identification of hydrops fetalis: a single-centre experience from 2001 to 2012.

Arch Dis Child Fetal Neonatal Ed. 2018-5-16

[7]
Genetic analysis of a congenital split‑hand/split‑foot malformation 4 pedigree.

Mol Med Rep. 2018-3-29

[8]
Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.

Genet Med. 2018-2-22

[9]
Molecular autopsy in maternal-fetal medicine.

Genet Med. 2017-7-20

[10]
Outcome and Treatment of Antenatally Diagnosed Nonimmune Hydrops Fetalis.

Fetal Diagn Ther. 2018

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