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与47,XXX相关的胎儿水肿:一例报告及文献综述

Fetal Hydrops Associated With 47,XXX: A Case Report and Literature Review.

作者信息

Sugai Shunya, Haino Kazufumi, Hayashi Masako, Nirei Jun, Yoshihara Kosuke, Nishijima Koji

机构信息

Obstetrics and Gynecology, Niigata University Medical and Dental Hospital, Niigata, JPN.

Pediatrics, Niigata University Medical and Dental Hospital, Niigata, JPN.

出版信息

Cureus. 2024 Jun 17;16(6):e62552. doi: 10.7759/cureus.62552. eCollection 2024 Jun.

DOI:10.7759/cureus.62552
PMID:39022510
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11254385/
Abstract

This report aims to investigate the association between 47,XXX and fetal hydrops by examining a clinical case and performing a comprehensive review of the relevant literature. A 34-year-old Japanese woman, gravida 2, para 1, was diagnosed with fetal hydrops at 27 weeks' gestation. Prenatal testing revealed a 47,XXX karyotype. Interventions included thoracocentesis and a thoracoamniotic shunt. A cesarean delivery was performed at 34 weeks and the female neonate initially had respiratory challenges. After 69 days in the neonatal intensive care unit, the infant was discharged in stable condition, and the 47,XXX karyotype was confirmed. This case may add evidence suggesting an association between 47,XXX and fetal hydrops. Chromosomal abnormalities are causes of fetal hydrops, but its association with 47,XXX remains unclear. Providing comprehensive information on this condition to couples is crucial, and considering the inclusion of fetal hydrops in the list of associated conditions might be advisable.

摘要

本报告旨在通过研究一个临床病例并全面回顾相关文献,探讨47,XXX与胎儿水肿之间的关联。一名34岁的日本女性,孕2产1,在妊娠27周时被诊断为胎儿水肿。产前检查显示其核型为47,XXX。干预措施包括胸腔穿刺术和胸腔羊膜分流术。孕34周时进行了剖宫产,女婴出生后最初出现呼吸问题。在新生儿重症监护病房住院69天后,婴儿病情稳定出院,47,XXX核型得到确认。该病例可能为47,XXX与胎儿水肿之间的关联提供证据。染色体异常是胎儿水肿的病因,但其与47,XXX的关联仍不明确。向夫妇提供关于这种情况的全面信息至关重要,考虑将胎儿水肿列入相关病症清单可能是明智的。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3562/11254385/1ebb3696ce0c/cureus-0016-00000062552-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3562/11254385/26caa9bb0d90/cureus-0016-00000062552-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3562/11254385/1ebb3696ce0c/cureus-0016-00000062552-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3562/11254385/26caa9bb0d90/cureus-0016-00000062552-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3562/11254385/1ebb3696ce0c/cureus-0016-00000062552-i02.jpg

相似文献

1
Fetal Hydrops Associated With 47,XXX: A Case Report and Literature Review.与47,XXX相关的胎儿水肿:一例报告及文献综述
Cureus. 2024 Jun 17;16(6):e62552. doi: 10.7759/cureus.62552. eCollection 2024 Jun.
2
Rare case of massive congenital bilateral chylothorax in a hydropic fetus with true mosaicism 47,XXX/46,XX.一例患有47,XXX/46,XX真性嵌合体的水肿胎儿出现大量先天性双侧乳糜胸的罕见病例。
J Obstet Gynaecol Res. 2014 Jan;40(1):259-62. doi: 10.1111/jog.12131. Epub 2013 Aug 12.
3
Fetal Distress and Neonatal Death After Thoracoamniotic Shunting Therapy Due to Hydrops Associated With Transient Abnormal Myelopoiesis.因与短暂性异常髓细胞生成相关的水肿行胸腔羊膜分流治疗后的胎儿窘迫与新生儿死亡
Cureus. 2022 Sep 9;14(9):e28991. doi: 10.7759/cureus.28991. eCollection 2022 Sep.
4
Prenatal factors associated with neonatal survival of infants with congenital chylothorax.与先天性乳糜胸婴儿新生儿存活相关的产前因素。
J Perinatol. 2018 Jan;38(1):31-34. doi: 10.1038/jp.2017.150. Epub 2017 Oct 19.
5
Midtrimester thoracoamniotic shunting for the treatment of fetal hydrops.孕中期胸腔羊膜分流术治疗胎儿水肿。
Fetal Diagn Ther. 1995 Mar-Apr;10(2):92-4. doi: 10.1159/000264212.
6
Cost-Effectiveness of Exome Sequencing versus Targeted Gene Panels for Prenatal Diagnosis of Fetal Effusions and Non-Immune Hydrops Fetalis.外显子组测序与靶向基因panel 用于胎儿积液和非免疫性胎儿水肿的产前诊断的成本效益比较。
Am J Obstet Gynecol MFM. 2022 Nov;4(6):100724. doi: 10.1016/j.ajogmf.2022.100724. Epub 2022 Aug 19.
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Antenatal treatment of chylothorax and cystic hygroma with OK-432 in nonimmune hydrops fetalis.OK-432用于非免疫性胎儿水肿综合征中乳糜胸和囊状水瘤的产前治疗。
Fetal Diagn Ther. 2005 Jul-Aug;20(4):309-15. doi: 10.1159/000085092.
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Survival in non-immune hydrops fetalis without malformation or chromosomal abnormalities after invasive treatment.侵入性治疗后无畸形或染色体异常的非免疫性胎儿水肿的存活情况。
Fetal Diagn Ther. 1995 Mar-Apr;10(2):101-5. doi: 10.1159/000264214.
9
Fetal Thoracoamniotic Shunting in a Case of Congenital Pulmonary Airway Malformations with Hydrops Fetalis.先天性肺气道畸形合并胎儿水肿病例中的胎儿胸腔羊膜分流术
AJP Rep. 2017 Jul;7(3):e185-e187. doi: 10.1055/s-0037-1606830. Epub 2017 Sep 22.
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Congenital Chylothorax: A Unique Presentation of Nonimmune Hydrops Fetalis in a Preterm Infant.先天性乳糜胸:早产儿非免疫性胎儿水肿的一种独特表现。
Adv Neonatal Care. 2016 Apr;16(2):114-23. doi: 10.1097/ANC.0000000000000257.

本文引用的文献

1
Sex chromosome aneuploidies and fertility: 47,XXY, 47,XYY, 47,XXX and 45,X/47,XXX.性染色体非整倍体与生育能力:47,XXY、47,XYY、47,XXX及45,X/47,XXX
Endocr Connect. 2023 Aug 1;12(9):e220440. doi: 10.1530/EC-22-0440.
2
The comorbidity landscape of 47,XXX syndrome: A nationwide epidemiologic study.47,XXX 综合征的合并症图谱:一项全国性的流行病学研究。
Genet Med. 2022 Feb;24(2):475-487. doi: 10.1016/j.gim.2021.10.012. Epub 2021 Nov 30.
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A systematic review of monogenic etiologies of nonimmune hydrops fetalis.非免疫性胎儿水肿的单基因病因学系统评价。
Genet Med. 2021 Jan;23(1):3-12. doi: 10.1038/s41436-020-00967-0. Epub 2020 Oct 21.
4
Changes in the cohort composition of turner syndrome and severe non-diagnosis of Klinefelter, 47,XXX and 47,XYY syndrome: a nationwide cohort study.特纳综合征队列构成的变化及克氏综合征、47,XXX 和 47,XYY 综合征的严重漏诊:一项全国性队列研究。
Orphanet J Rare Dis. 2019 Jan 14;14(1):16. doi: 10.1186/s13023-018-0976-2.
5
A finding in genetic polymorphism analysis study: A case of non-mosaic 47, XXX without manifestations.一项基因多态性分析研究中的发现:一例无临床表现的非嵌合型47, XXX病例。
Leg Med (Tokyo). 2017 Jul;27:38-42. doi: 10.1016/j.legalmed.2017.06.006. Epub 2017 Jun 30.
6
Expanding the phenotype of Triple X syndrome: A comparison of prenatal versus postnatal diagnosis.扩展XXX综合征的表型:产前诊断与产后诊断的比较
Am J Med Genet A. 2016 Nov;170(11):2870-2881. doi: 10.1002/ajmg.a.37688. Epub 2016 Sep 19.
7
Society for maternal-fetal medicine (SMFM) clinical guideline #7: nonimmune hydrops fetalis.美国母胎医学会(SMFM)临床指南 #7:非免疫性胎儿水肿。
Am J Obstet Gynecol. 2015 Feb;212(2):127-39. doi: 10.1016/j.ajog.2014.12.018. Epub 2014 Dec 31.
8
Rare case of massive congenital bilateral chylothorax in a hydropic fetus with true mosaicism 47,XXX/46,XX.一例患有47,XXX/46,XX真性嵌合体的水肿胎儿出现大量先天性双侧乳糜胸的罕见病例。
J Obstet Gynaecol Res. 2014 Jan;40(1):259-62. doi: 10.1111/jog.12131. Epub 2013 Aug 12.
9
Prenatal diagnosis of non-immune hydrops fetalis: what do we tell the parents?胎儿非免疫性水肿的产前诊断:我们应该告诉家长什么?
Prenat Diagn. 2011 Feb;31(2):186-95. doi: 10.1002/pd.2677. Epub 2011 Jan 4.
10
Hydrops fetalis: a retrospective review of cases reported to a large national database and identification of risk factors associated with death.胎儿水肿:对上报至一个大型国家数据库的病例进行回顾性分析,并确定与死亡相关的危险因素。
Pediatrics. 2007 Jul;120(1):84-9. doi: 10.1542/peds.2006-3680.