Prenatal Diagnosis最新文献_第7页

Exome Sequencing in Fetuses With Bilateral Renal Agenesis Identified on Second Trimester Ultrasound: A Single Referral Center Experience. 第二孕期超声检查发现双侧肾发育不全胎儿的外显子组测序：单个转诊中心的经验

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2025-02-01 Epub Date: 2024-11-12 DOI: 10.1002/pd.6705

Qiu-Xia Yu, Li Zhen, Zhi-Qing Xiao, Yun-Jing Wen, Dong-Zhi Li

{"title":"Exome Sequencing in Fetuses With Bilateral Renal Agenesis Identified on Second Trimester Ultrasound: A Single Referral Center Experience.","authors":"Qiu-Xia Yu, Li Zhen, Zhi-Qing Xiao, Yun-Jing Wen, Dong-Zhi Li","doi":"10.1002/pd.6705","DOIUrl":"10.1002/pd.6705","url":null,"abstract":"Objective: To determine the exome sequencing results in fetuses with bilateral renal agenesis (BRA).Methods: This was a retrospective study of 14 cases with BRA diagnosed on second trimester anatomy ultrasound. All cases underwent invasive prenatal diagnosis. Genetic investigations were performed by chromosomal microarray analysis and trio exome sequencing. Clinical and laboratory data were collected and reviewed for these cases, including maternal demographics, prenatal sonographic findings, molecular sequencing results, and pregnancy outcomes.Results: Pathogenic and likely pathogenic variants in three genes (FRAS1, PBX1, and KMT2D) were detected by exome sequencing in 6 (6/14) cases. One gene (FRAS1) is inherited in an autosomal recessive (AR) manner and two (PBX1 and KMT2D) are autosomal dominant (AD); both AD variants were de novo. Only the FRAS1 variants were detected in more than one case. Variants in five cases were believed to be the cause of BRA, and the variants detected in PBX1 and KMT2D were likely the cause of fetal phenotype suggesting that the two genes can present with BRA. The yield of exome sequencing in our series is one third (4/12) after excluding two families with a previous family history.Conclusion: Fraser syndrome, resulting from FRAS1 variants, is the most common cause of genetic BRA identified in this specific cohort. The determination of genetic etiology will be valuable in the possible choices for pregnancy management and risk assessment of recurrence in future pregnancies.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":"218-222"},"PeriodicalIF":2.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142626347","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Parental Somatic Mosaicism Detected During Prenatal Diagnosis. 产前诊断中检测到的父母体细胞嵌合。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2025-02-01 Epub Date: 2024-11-25 DOI: 10.1002/pd.6712

Natalie J Chandler, Elizabeth Scotchman, Fiona McKay, Vijaya Ramachandran, Lyn S Chitty

{"title":"Parental Somatic Mosaicism Detected During Prenatal Diagnosis.","authors":"Natalie J Chandler, Elizabeth Scotchman, Fiona McKay, Vijaya Ramachandran, Lyn S Chitty","doi":"10.1002/pd.6712","DOIUrl":"10.1002/pd.6712","url":null,"abstract":"Objective: Accurate recurrence risks are essential for genomic counselling and parental reproductive choices. Historically, Sanger sequencing was used to test parental samples, which has a limited sensitivity of ∼ 10% for detecting somatic mosaicism. Next generation sequencing (NGS) methods, utilised for non-invasive prenatal diagnosis (NIPD) and trio prenatal exome sequencing in our laboratory, have greater sensitivity. Here we review the cases of parental somatic mosaicism we have detected and discuss its impact on management.Method: Laboratory databases from 1 January 2015 to 30 September 2022 were reviewed to identify all cases where parental somatic mosaicism was detected during NIPD and prenatal exome testing.Results: During the development of NIPD testing, we identified 10/131 (7.6%) families with parental somatic mosaicism. In six cases where NGS detected levels between 0.37% and 8.82%, prior testing with Sanger sequencing had not detected mosaicism. In our exome sequencing cohort, we detected parental mosaicism in 4/101 (3.96%) cases. Clinical features of the condition were identified in 2/14 parents.Conclusion: The sensitivity of the testing technique needs to be considered when counselling parents on recurrence risk. Parents need to be aware that modern approaches to prenatal diagnosis may allow identification of mosaicism, which may have implications for their own health and change recurrence risks for future pregnancies.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":"171-177"},"PeriodicalIF":2.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11790521/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142716856","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Cranial, Renal, and Skeletal Anomalies in a Fetus With a Pathogenic Variant in the TAFAZZIN Gene. TAFAZZIN基因致病性变异胎儿的颅、肾和骨骼异常。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2025-02-01 Epub Date: 2025-01-05 DOI: 10.1002/pd.6736

Cordelia R Muir, Kelly L Gilmore, Smriti Singh, Neeta L Vora

{"title":"Cranial, Renal, and Skeletal Anomalies in a Fetus With a Pathogenic Variant in the TAFAZZIN Gene.","authors":"Cordelia R Muir, Kelly L Gilmore, Smriti Singh, Neeta L Vora","doi":"10.1002/pd.6736","DOIUrl":"10.1002/pd.6736","url":null,"abstract":"Objective: To report a case of a fetus with multiple congenital anomalies and suspected Barth syndrome, highlighting potential phenotypic expansion of the syndrome.Methods: A 32-year-old G4P2011 patient was referred at 18w5d gestation for suspected fetal encephalocele. Serial imaging, including ultrasound and MRI, was performed to evaluate fetal anomalies. Doppler studies assessed fetal development and postnatal findings were documented. Genetic variants were identified using trio whole exome sequencing.Results: Initial ultrasound revealed occipital encephalocele, right renal aplasia, and abnormal vertebral curvature. Follow-up MRI confirmed occipital encephalocele and identified Chiari malformation but normal renal morphology. Phenotypic evolution included intrauterine growth restriction (IUGR), right renal hypoplasia, cardiomegaly, polyhydramnios, and hydrops fetalis. Delivery occurred via cesarean section at 30w6d due to non-reassuring Doppler findings. Postnatally, the neonate exhibited esophageal atresia, vertebral segmentation and rib morphology defects, and right renal aplasia. The neonate died on the first day of life due to cardiac decompensation. Genetic testing identified a TAFAZZIN c.589G>A p.(Gly197Arg) pathogenic variant, consistent with Barth syndrome.Conclusion: The presentation of IUGR, cardiomyopathy, and hydrops fetalis aligns with Barth syndrome. However, the additional findings of occipital encephalocele, renal aplasia, and vertebral and rib anomalies suggest a potential phenotypic expansion of Barth syndrome.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":"227-230"},"PeriodicalIF":2.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142932602","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

In Response to the Letter by Dr. Shamshirsaz and Colleagues: "Feasibility Versus Success: Bridging the Evidence Gap in Endoscopic Third Ventriculostomy for Fetal Interventions." 对Shamshirsaz博士及其同事的信的回应：“可行性与成功：弥合胎儿干预的内窥镜第三脑室造口术的证据差距。”

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2025-02-01 Epub Date: 2024-12-23 DOI: 10.1002/pd.6728

C F A Peralta, A P Medrado, R D Botelho, K Jorge Rodrigues da Costa, V Imada, F Lamis

引用次数: 0

How Useful is Nuchal Translucency in Detecting Chromosomal Abnormalities Missed by Genome-Wide NIPT and What Measurement Threshold Should Be Used? 颈部半透明在检测全基因组NIPT遗漏的染色体异常中有多有用？应该使用什么测量阈值？

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2025-02-01 Epub Date: 2025-01-03 DOI: 10.1002/pd.6742

May Phoo Han, Ana Elizabeth Gomes de Melo Tavares Ferreira, James Elhindi, Andrew C McLennan, Fergus Scott

{"title":"How Useful is Nuchal Translucency in Detecting Chromosomal Abnormalities Missed by Genome-Wide NIPT and What Measurement Threshold Should Be Used?","authors":"May Phoo Han, Ana Elizabeth Gomes de Melo Tavares Ferreira, James Elhindi, Andrew C McLennan, Fergus Scott","doi":"10.1002/pd.6742","DOIUrl":"10.1002/pd.6742","url":null,"abstract":"Introduction: Genome-wide non-invasive prenatal testing (gwNIPT) has screening limitations for detectable genetic conditions and cannot detect microdeletions/microduplications (MD) or triploidy. Nuchal translucency (NT) increases with gestation and with genetic or structural abnormalities. This study aims to determine the utility of NT measurement in detecting genetic abnormalities not identified by gwNIPT and the optimal NT threshold value.Methods: A 4-year retrospective study of singleton pregnancies undergoing first-line gwNIPT aneuploidy screening where invasive prenatal testing by CVS/or amniocentesis was subsequently undertaken. Population proportions for static and multiple of the median (MoM) NT cut-offs were derived from all 11-14 weeks ultrasound examinations.Results: Among 919 pregnancies with gwNIPT and invasive testing, 338 had a single genetic abnormality. There were 9 false negative GwNIPT results and a further 26 undetectable abnormalities (18 MD, 8 triploidy) in this cohort. Twelve had a dual chromosomal abnormality, four of which returned a low-risk gwNIPT. Thirty-three \"missed cases\" also had a 13-week scan, to which the various NT threshold values (3.0 mm, 1.6 MoM, 3.5 mm, and 1.9 MoM) were applied. In only 3 (9%) cases did the NT exceed 3.0 mm with similar detection rates (DR) for all higher cut-offs. Static and MoM-based NT cut-offs had similar positive predictive values (PPV).Conclusion: Enlarged NT measurement is a poor predictor of genetic abnormalities not identified by gwNIPT. When applied, the fixed NT cut-off of 3.5 mm provides a low FPR with a similar DR to lower cut-off thresholds, resulting in a higher PPV.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":"147-154"},"PeriodicalIF":2.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11790515/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142927951","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Risk of Cord Entanglement After Iatrogenic Monoamnionicity, With Selective and Solomon Laser Treatment for Twin-To-Twin Transfusion Syndrome in Monochorionic Twin Pregnancies. 医源性单羊膜穿刺后脐带缠结的风险，选择和所罗门激光治疗单绒毛膜双胎妊娠的双胎输血综合征。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2025-02-01 Epub Date: 2025-01-12 DOI: 10.1002/pd.6740

Mariano Lanna, Ludovica Palandri, Stefano Faiola, Daniela Casati, Arianna Laoreti, Chiara Coco, Valeria Savasi, Dario Consonni

{"title":"Risk of Cord Entanglement After Iatrogenic Monoamnionicity, With Selective and Solomon Laser Treatment for Twin-To-Twin Transfusion Syndrome in Monochorionic Twin Pregnancies.","authors":"Mariano Lanna, Ludovica Palandri, Stefano Faiola, Daniela Casati, Arianna Laoreti, Chiara Coco, Valeria Savasi, Dario Consonni","doi":"10.1002/pd.6740","DOIUrl":"10.1002/pd.6740","url":null,"abstract":"Introduction: Fetoscopic laser surgery (FLS) is the gold standard treatment for monochorionic (MC) twin pregnancies complicated by twin-twin transfusion syndrome (TTTS). The aim of our study was to evaluate the rate and risk factors for cord entanglement in the presence of iatrogenic monoamnioticity (iMA), a consequence of inadvertent septostomy during FLS.Methods: This is a retrospective analysis of two consecutive cohorts of FLS performed either using the selective technique from January 2004 to January 2012, or with the Solomon technique, from that date onwards. Maternal and fetal characteristics, technical details, and obstetrical and perinatal outcomes were recorded. Cord entanglement was identified based on the presence of a galloping sign observed during prenatal ultrasound in the presence of iMA. At our center, mono-amniotic twins are electively delivered at 32 completed weeks.Results: The mean gestational age of the 558 FLS, 52.3% selective and 47.6% Solomon, was 19.8 weeks (15.1-26.4). Solomon laser coagulation was associated with a lower occurrence of TAPS or TTTS (5.3% vs. 13%, p = 0.001) after the FLS and a higher number of placental abruption (9% vs. 2% p < 0.001) and by more cord entanglement in the presence of iMA (9.4% vs. 2.4% respectively, p < 0.001). The presence of iMA was correlated with a higher occurrence of limb defects (6.2% vs. 1% in non-iMA twins, p 0.001).Conclusions: Solomon FLS was associated with a higher risk of cord entanglement and placental abruptio. As a consequence, we delivered twins with iMA earlier.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":"259-264"},"PeriodicalIF":2.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142971850","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Towards a Responsible Implementation of NIPT as a First-Tier Test in Canada: Decision-Makers' Perspectives.

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2025-01-31 DOI: 10.1002/pd.6753

Marie-Christine Roy, Marie-Françoise Malo, Tierry Morel-Laforce, Vardit Ravitsky, Anne-Marie Laberge

{"title":"Towards a Responsible Implementation of NIPT as a First-Tier Test in Canada: Decision-Makers' Perspectives.","authors":"Marie-Christine Roy, Marie-Françoise Malo, Tierry Morel-Laforce, Vardit Ravitsky, Anne-Marie Laberge","doi":"10.1002/pd.6753","DOIUrl":"https://doi.org/10.1002/pd.6753","url":null,"abstract":"Objective: To explore decision makers' perspectives on the conditions for a responsible implementation of non-invasive prenatal testing (NIPT) as a first-tier test in Canadian provinces' healthcare systems.Method: A qualitative study was conducted with 16 Canadian decision makers who were interviewed between February 2021 and July 2022. After anonymization and transcription, interviews were coded inductively using thematic analysis.Results: Our interviews showed the complexity of the decision making environment regarding prenatal screening funding. Participants agreed that NIPT is superior to maternal serum screening as a first-tier test, but they also recognized that first-tier NIPT has limits and barriers. They described the following conditions for its responsible implementation: (1) need for time and evidence; (2) taking stakeholders' perspectives into account; (3) limit costs for the healthcare system; (4) ensure appropriate logistical conditions and harmonize the test offer; (5) ensure appropriate clinical services; (6) ensure informed consent; (7) ensure the test is presented as an individual choice to avoid eugenic concerns.Conclusion: Multiple barriers and issues need to be addressed before moving NIPT from second- to first-tier. Decision makers' perspectives should be contrasted with those of other important stakeholders, including pregnant people, disability advocates and healthcare professionals.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143075299","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Advances in Prenatal Cell-Free DNA Screening for Dominant Monogenic Conditions: A Review of Current Progress and Future Directions in Clinical Implementation.

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2025-01-25 DOI: 10.1002/pd.6752

Jun Liao, Naixin Xu, Harry Gao, Tristan Hardy, Brynn Levy, Lakshmi Mehta, Kwong Wai Choy, Hefeng Huang, Jinglan Zhang

{"title":"Advances in Prenatal Cell-Free DNA Screening for Dominant Monogenic Conditions: A Review of Current Progress and Future Directions in Clinical Implementation.","authors":"Jun Liao, Naixin Xu, Harry Gao, Tristan Hardy, Brynn Levy, Lakshmi Mehta, Kwong Wai Choy, Hefeng Huang, Jinglan Zhang","doi":"10.1002/pd.6752","DOIUrl":"https://doi.org/10.1002/pd.6752","url":null,"abstract":"Prenatal cell-free DNA (cfDNA) screening has advanced significantly, extending beyond detecting aneuploidies to sub-chromosomal copy number variations. However, its application for screening dominant single-gene conditions, often caused by de novo variants, remains underutilized in the general obstetric population. This study reviews recent data and experience on prenatal cfDNA screening for dominant monogenic conditions using multiple-gene panels, highlighting its potential to enhance early detection and management of genetic disorders. Integrating comprehensive cfDNA screening into routine prenatal care could complement current imaging techniques and standard prenatal cfDNA screening, which may overlook pre-symptomatic fetuses with dominant monogenic conditions in early gestation. Despite promising initial results, further research is needed to confirm the clinical validity and utility of cfDNA screening for these conditions. Larger and more diverse studies are necessary to assess the broader applicability of this technology. In addition, key challenges such as access, genetic counseling, ethical considerations, and policy development need to be addressed. A comprehensive approach, including rigorous test design, informed consent, and robust counseling, is essential for the successful adoption of expanded cfDNA screening, ultimately improving clinical outcomes.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-01-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143047576","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Making Sense of a Prenatal Detection of Trisomy 16 Mosaicism in the Placenta: A Qualitative Study of Pregnant Women's Decision Making.

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2025-01-24 DOI: 10.1002/pd.6751

Stina Lou, Anna Ryberg, Naja Becher, Ida Charlotte Bay Lund, Ida Vogel

{"title":"Making Sense of a Prenatal Detection of Trisomy 16 Mosaicism in the Placenta: A Qualitative Study of Pregnant Women's Decision Making.","authors":"Stina Lou, Anna Ryberg, Naja Becher, Ida Charlotte Bay Lund, Ida Vogel","doi":"10.1002/pd.6751","DOIUrl":"https://doi.org/10.1002/pd.6751","url":null,"abstract":"Objective: Prenatal detection of Trisomy 16 mosaicism (MosT16) in a Chorionic Villus Sample (CVS) results may cause significant anxiety for expectant parents due to the risk of fetal malformation and fetal growth restriction (FGR). The aim of this study was to investigate the experiences and decision-making of women receiving a MosT16 results during pregnancy.Methods: In-depth, semi-structured interviews with eight Danish women who received a MosT16 CVS results. Interviews were analyzed using reflexive thematic analysis.Results: Four women terminated pregnancy following the MosT16 CVS result, emphasizing the emotional burden of waiting for amniocentesis and concerns about fetal involvement and FGR risk. Four women opted to await amniocentesis following which one terminated pregnancy due to fetal involvement, while three continued their pregnancies (one normal result, two low-percentage fetal involvement results). During pregnancy, all three fetuses were small for gestational age, and the concerns about their growth were burdensome for expectant parents. Two women delivered prematurely, but all three described their babies as healthy.Conclusion: The prenatal MosT16 CVS result represents a critical decision point, requiring consideration of both fetal involvement and FGR risk. Thus, genetic counseling should be combined with counseling from obstetrics/fetal medicine specialists.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143041030","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Prenatal Diagnosis of Caroli's Disease by Ultrasound and MRI Imaging. 卡罗里氏病的超声和MRI产前诊断。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2025-01-17 DOI: 10.1002/pd.6750

Ying-Li Wei, Jian-Fa Cao, Cheng Xing, Ning Shang, Hong-Ke Ding, Li-Ming Zhang, Xiao-Bin Li, Xiang-Jiao Liu, Li-Min Wang, Chao-Xiang Yang

{"title":"Prenatal Diagnosis of Caroli's Disease by Ultrasound and MRI Imaging.","authors":"Ying-Li Wei, Jian-Fa Cao, Cheng Xing, Ning Shang, Hong-Ke Ding, Li-Ming Zhang, Xiao-Bin Li, Xiang-Jiao Liu, Li-Min Wang, Chao-Xiang Yang","doi":"10.1002/pd.6750","DOIUrl":"https://doi.org/10.1002/pd.6750","url":null,"abstract":"Objective: To present the imaging features of Caroli's disease (CD) on prenatal ultrasound and magnetic resonance imaging (MRI).Methods: This was a retrospective case series of prenatally diagnosed CD between 2017 and 2024. Clinical data from these cases were collected and reviewed.Results: Five fetuses with CD were included, three of which had a definite combination of ARPKD and suspected in the other 2. Prenatal ultrasonography revealed multiple intrahepatic bile duct dilatations in four fetuses, each of which displayed the \"horn comb\" sign in a cross-section of the liver. All five fetuses had abnormal kidney ultrasounds: three showed enlarged and hyperechogenic kidneys and two showed hyperechogenic kidneys. The MRI scans of all fetuses showed a \"central dot\" (C-DOT) sign in the liver. By MRI, three fetuses had enlarged kidneys, one slightly had hyperintensity kidneys, and one had no significant kidney abnormalities. Pregnancy termination was chosen in all cases.Conclusions: CD may be identified by fetal ultrasound through the characteristic arrangement of intrahepatic dilated bile ducts (\"horn comb\" sign). Fetal MRI is advantageous for detecting the C-DOT sign, which confirms the diagnosis of CD. In our experience, these findings tend to become apparent in the late second to early third trimester of pregnancy.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-01-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143010330","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0