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对患有贝克威思-维德曼综合征胎儿的母体游离DNA分析:产前诊断的潜力

Maternal Cell-Free DNA Analysis in a Fetus Affected by Beckwith-Wiedemann Syndrome: Potential for Prenatal Diagnosis.

作者信息

Yamamoto Ryutaro, Umazume Takeshi, Asano Hiroshi, Asai Satoko, Watari Hidemichi

机构信息

Obstetrics and Gynecology, Hokkaido University Hospital, Sapporo, JPN.

Obstetrics and Gynecology, Ebetsu City Hospital, Ebetsu, JPN.

出版信息

Cureus. 2025 Apr 13;17(4):e82215. doi: 10.7759/cureus.82215. eCollection 2025 Apr.


DOI:10.7759/cureus.82215
PMID:40370869
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12075991/
Abstract

Beckwith-Wiedemann syndrome (BWS) is a condition present from birth that involves excessive growth and is linked to changes in specific genes located on chromosome 11p15.5. Prenatal diagnosis is mainly based on imaging findings such as macrosomia, macroglossia, and omphalocele, but detection remains difficult. We report a case of a fetus suspected of having BWS based on prenatal ultrasound and MRI. A female infant was delivered via cesarean section at 37 weeks and one day of gestation, showing macrosomia, macroglossia, and other clinical features consistent with BWS. To explore potential biomarkers for prenatal diagnosis of BWS, maternal blood was collected at 36 and 37 weeks of gestation and postpartum days 1 and 5. Cell-free DNA (cfDNA) analysis revealed a bimodal fragment size distribution with peaks at 144 and 166 bp during pregnancy. After delivery, the 144 bp peak disappeared, resulting in a unimodal pattern. The fetal fraction was elevated during pregnancy (33.9-34.5%) and decreased rapidly postpartum (to 3.4%). These findings suggest an increased release of fetal-derived cfDNA with BWS-affected fetuses. This case highlights the potential utility of cfDNA analysis as a noninvasive biomarker for BWS.

摘要

贝克威思-维德曼综合征(BWS)是一种先天性疾病,涉及过度生长,与位于11号染色体p15.5上的特定基因变化有关。产前诊断主要基于影像学表现,如巨大儿、巨舌症和脐膨出,但检测仍然困难。我们报告一例基于产前超声和磁共振成像(MRI)怀疑患有BWS的胎儿病例。一名女婴在妊娠37周零1天时通过剖宫产分娩,表现出巨大儿、巨舌症以及与BWS一致的其他临床特征。为了探索BWS产前诊断的潜在生物标志物,在妊娠36周和37周以及产后第1天和第5天采集了母体血液。游离DNA(cfDNA)分析显示,孕期cfDNA片段大小呈双峰分布,峰值分别在144和166 bp。分娩后,144 bp的峰值消失,形成单峰模式。胎儿游离DNA比例在孕期升高(33.9 - 34.5%),产后迅速下降(降至3.4%)。这些发现表明,受BWS影响的胎儿释放的胎儿来源cfDNA增加。该病例突出了cfDNA分析作为BWS无创生物标志物的潜在用途。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/28ae/12075991/0148983384fe/cureus-0017-00000082215-i03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/28ae/12075991/b2ca930ec968/cureus-0017-00000082215-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/28ae/12075991/844a427351f5/cureus-0017-00000082215-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/28ae/12075991/0148983384fe/cureus-0017-00000082215-i03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/28ae/12075991/b2ca930ec968/cureus-0017-00000082215-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/28ae/12075991/844a427351f5/cureus-0017-00000082215-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/28ae/12075991/0148983384fe/cureus-0017-00000082215-i03.jpg

相似文献

[1]
Maternal Cell-Free DNA Analysis in a Fetus Affected by Beckwith-Wiedemann Syndrome: Potential for Prenatal Diagnosis.

Cureus. 2025-4-13

[2]
Beckwith-Wiedemann Syndrome

1993

[3]
Prenatal imaging throughout gestation in Beckwith-Wiedemann syndrome.

Prenat Diagn. 2019-3-18

[4]
Elevated maternal serum α-fetoprotein level in a fetus with Beckwith-Wiedemann syndrome in the second trimester of pregnancy.

J Prenat Med. 2012-1

[5]
Prenatal presentation in two fetuses with features of Beckwith Wiedemann syndrome-An unexpected diagnosis of androgenetic chimera and its clinical implications.

Am J Med Genet A. 2022-5

[6]
New genetic and clinical evidence associated with fetal Beckwith-Wiedemann syndrome.

Prenat Diagn. 2021-6

[7]
Beckwith-Wiedemann syndrome with long QT caused by a deletion involving KCNQ1 but not KCNQ1OT1:TSS-DMR.

Eur J Med Genet. 2023-1

[8]
Ultrasound and molecular prenatal diagnosis of Beckwith-Wiedemann syndrome: Two case reports.

Radiol Case Rep. 2022-10-19

[9]
[Beckwith-Wiedemann syndrome: What do you search in prenatal diagnosis? About 14 cases].

Gynecol Obstet Fertil. 2015-11

[10]
Detection of hypermethylation at H19DMR at amniocentesis in a fetus with overgrowth, distended abdomen and Beckwith-Wiedemann syndrome.

Taiwan J Obstet Gynecol. 2021-11

本文引用的文献

[1]
Dynamics and Half-Life of Cell-Free DNA After Exercise: Insights from a Fragment Size-Specific Measurement Approach.

Diagnostics (Basel). 2025-1-4

[2]
Beckwith-Wiedemann syndrome in a child with multifocal Wilms tumor and lateralized overgrowth: A case report.

Radiol Case Rep. 2023-6-20

[3]
Proposal for Practical Approach in Prenatal Diagnosis of Beckwith-Wiedemann Syndrome and Review of the Literature.

Diagnostics (Basel). 2022-7-13

[4]
Assisted reproductive technology: Short- and long-term outcomes.

Dev Med Child Neurol. 2023-1

[5]
Improving the prenatal diagnosis of Beckwith-Wiedemann syndrome.

Prenat Diagn. 2021-6

[6]
New genetic and clinical evidence associated with fetal Beckwith-Wiedemann syndrome.

Prenat Diagn. 2021-6

[7]
The Prevalence of Difficult Airway in Children With Beckwith-Wiedemann Syndrome: A Retrospective Cohort Study.

Anesth Analg. 2021-12-1

[8]
Clinical and Molecular Diagnosis of Beckwith-Wiedemann Syndrome with Single- or Multi-Locus Imprinting Disturbance.

Int J Mol Sci. 2021-3-26

[9]
Sensitive and specific multi-cancer detection and localization using methylation signatures in cell-free DNA.

Ann Oncol. 2020-6

[10]
Factors affecting cell-free DNA fetal fraction: statistical analysis of 13,661 maternal plasmas for non-invasive prenatal screening.

Hum Genomics. 2019-12-4

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