Prenatal Diagnosis最新文献

{"title":"Fetal Therapy for Severe Drug-Resisted Tachyarrhythmia With Progressive Hydrops by Fetoscopic Transesophageal Pacing: A Successful Attempt in Single Chinese Fetal Medicine Center.","authors":"Hao Wang, Wenfei Luo, Chen Gongli","doi":"10.1002/pd.6745","DOIUrl":"https://doi.org/10.1002/pd.6745","url":null,"abstract":"<p><strong>Objective: </strong>To describe the outcome of a case of severe drug-resistant fetal tachyarrhythmia with progressive hydrops treated with fetoscopic transesophageal pacing (FTEP).</p><p><strong>Method: </strong>A case of fetal tachyarrhythmia complicated by progressive hydrops is presented. The fetus, diagnosed at 26⁺² weeks of gestation, had supraventricular tachycardia with a mechanism suggestive of atrial reentry. Maternal treatment included digoxin, sotalol and amiodarone, which were ineffective in controlling the arrhythmia. After failure of pharmacological therapy, FTEP was performed.</p><p><strong>Results: </strong>A male baby was delivered by cesarean section, with the Apgar scores of 10 at 1 min, 5 and 10 min at 35⁺² weeks of gestation. An initial neonatal electrocardiogram demonstrated normal sinus rhythm. Follow-up is now up to 1 year, without tachyarrhythmia or cardiac dysfunction.</p><p><strong>Conclusion: </strong>FTEP offers a potential rescue therapy for cases of severe drug-resistant fetal tachyarrhythmia associated with progressive fetal hydrops and cardiac dysfunction.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-01-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142953790","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}

{"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":"https://doi.org/10.1002/pd.6736","url":null,"abstract":"<p><strong>Objective: </strong>To report a case of a fetus with multiple congenital anomalies and suspected Barth syndrome, highlighting potential phenotypic expansion of the syndrome.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusion: </strong>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.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-01-05","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}

{"title":"Characterizing the In Utero Phenome of the Chiari II Malformation-A Network Medicine Approach, Using Fetal MRI.","authors":"Hui Shi, Daniela Prayer, Joel Leinkauf, Johannes Tischer, Xu Li, Patric Kienast, Farjad Khalaveh, Julia Binder, Gregor Kasprian","doi":"10.1002/pd.6741","DOIUrl":"https://doi.org/10.1002/pd.6741","url":null,"abstract":"<p><strong>Objective: </strong>To apply a network medicine-based approach to analyze the phenome of the prenatal fetal MRI and biometric findings in the Chiari II malformation (CM II) to detect specific patterns and co-occurrences.</p><p><strong>Method: </strong>A single-center retrospective review of fetal MRI scans obtained in fetuses with CM II was performed. Co-occurrence analysis was utilized to generate a phenotypic comorbidity matrix and visualized by Gephi software. Traditional univariate regression and geometric thin-plate spline methodology were used to elucidate the mechanisms underlying the relationships between morphometric measurements and geometric landmarks of the spine, skull, and brain deformations.</p><p><strong>Results: </strong>The CM II phenome consists of 35 nodes interconnected by 979 edges with a density of 0.828. Key \"hubs\" identified within this network include spinal bony defects, reduced posterior fossa dimensions, and vermis ectopia. The brain edema phenotype appearing only in the fetal stage but disappearing after postnatal surgery, links to increased postnatal morbidity and demonstrates distinct shape patterns by geometric analysis. Traditional univariate regression reveals correlations among spinal defects, posterior fossa dimensions, and caudal extent of vermis ectopia. The degree of brain rearrangement versus spinal bony rearrangement shows a correlation (r = 0.721, p = 0.0023) by partial least-squares analysis.</p><p><strong>Conclusion: </strong>The CM II prenatal phenome is a multifaceted network centered around three key elements-spinal bony defects, small posterior fossa, and vermis ectopia-with strong interconnections. Fetal brain edema emerged as an exclusively prenatally detectable and transient phenotype of prognostic relevance.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-01-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142927950","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}

{"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":"https://doi.org/10.1002/pd.6742","url":null,"abstract":"<p><strong>Introduction: </strong>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.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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).</p><p><strong>Conclusion: </strong>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.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-01-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","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":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prenatal Exome Sequencing Identifies Dual Maternal-Fetal Diagnosis of HbF Mission Bay, a Novel HBG2 Variant Associated With Methemoglobinemia, Hypoxia and Hemolytic Anemia.","authors":"Matthew A Shear, Billie Lianoglou, Ugur Hodoglugil, W Patrick Devine, Ashutosh Lal, Juan Gonzalez, Teresa N Sparks","doi":"10.1002/pd.6734","DOIUrl":"https://doi.org/10.1002/pd.6734","url":null,"abstract":"<p><p>Prenatal exome sequencing (ES) can establish rare genetic diagnoses in a fetus but may also lead to occult genetic diagnosis in a biological parent. We present a case of dual fetal and maternal diagnosis by prenatal ES, in a fetus with unexplained anemia and in a pregnant patient with sickle cell disease (SCD) and recurrent unexplained hypoxia. ES identified a novel, likely pathogenic gamma globin variant, HbF Mission Bay HBG2 (c.86T > A, p.Leu29Gln), in both the fetus and mother. Deleterious variants in HBG2 have been associated with cyanosis, hypoxia, methemoglobinemia, and hemolytic anemia that are typically confined to infancy. In the pregnant patient who herself had a separate diagnosis of SCD, the HBG2 variant manifested with hypoxia as an infant herself, recurrent hypoxia in adulthood, and methemoglobinemia during pregnancy due to persistence of HbF. This same variant manifested in the fetus as anemia requiring multiple in utero transfusions as well as neonatal methemoglobinemia after birth.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-01-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142922559","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}

{"title":"Phenotype-to-Genotype Description of Prenatal Suspected and Postnatal Discovered Upper Limb Anomalies: A Retrospective Cohort Study.","authors":"Arda Arduç, Sandra J B van Dijk, Feikje J Ten Cate, Margriet H M van Doesburg, Ingeborg H Linskens, Elisabeth van Leeuwen, Merel C van Maarle, Eva Pajkrt","doi":"10.1002/pd.6714","DOIUrl":"10.1002/pd.6714","url":null,"abstract":"<p><strong>Objective: </strong>To evaluate phenotype and genotype characteristics of fetuses and children with upper limb anomalies.</p><p><strong>Method: </strong>Retrospective cohort study of a prenatal and postnatal cohort with upper limb anomalies from January 2007 to December 2021 in a Fetal Medicine Unit. Prenatally on ultrasound suspected upper limb anomalies, such as transverse and longitudinal reduction defects, polydactyly, and syndactyly, and postnatally identified children referred to the Congenital Hand Team were evaluated separately.</p><p><strong>Results: </strong>The prenatal group included 199 pregnancies: 64 transverse and 19 longitudinal reduction defects, 103 polydactylies, and 13 cases with syndactyly. The majority of cases with longitudinal reduction defects (n = 10, 52.6%), polydactyly (n = 62, 60.2%), and syndactyly (n = 10, 76.9%) were non-isolated, as opposed to transverse reduction defects, which were generally isolated (n = 41, 64.1%). The postnatal cohort included 362 children with upper limb anomalies with 49 transverse and 22 longitudinal reduction defects, 226 polydactylies, and 65 syndactylies. Chromosomal or monogenic abnormalities were identified in 76/199 (38.2%) cases of the prenatal cohort and in 31/362 (8.6%) cases of the postnatal cohort.</p><p><strong>Conclusion: </strong>Prenatal identification of minor defects of the digits is a challenge, with more postnatal than prenatal cases. The majority of cases with isolated anomalies in both groups had no underlying chromosomal or monogenic cause, nor were they associated with a syndrome, as compared to the non-isolated cases. Conducting structural anomaly scans and genetic counseling are crucial to assess the risk of genetic abnormalities.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":"3-14"},"PeriodicalIF":2.7,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11717735/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142754959","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}

{"title":"Confronting the Taboo of Multifetal Pregnancy Reduction: A Qualitative Study of Maternal Decision-Making in Triplet Pregnancies.","authors":"P M van Baar, R Arnoldussen, E Pajkrt, M A de Boer, C J M de Groot, B F P Broekman, M G van Pampus","doi":"10.1002/pd.6724","DOIUrl":"10.1002/pd.6724","url":null,"abstract":"<p><strong>Objective: </strong>To explore the personal experiences of women faced with the decision to continue a triplet pregnancy or undergo multifetal pregnancy reduction.</p><p><strong>Methods: </strong>A qualitative study with semi-structured interviews was conducted between October 2021 and April 2023. Participants included women who continued a triplet pregnancy, and those who underwent multifetal pregnancy reduction from triplet to twins or singletons, 1-6 years post-decision. Interviews focused on: (1) the decision-making process, and (2) the emotional aspects and psychological impact of the decision. Thematic analysis was used to identify patterns, involving familiarization, defining themes, and producing the final report.</p><p><strong>Results: </strong>Data saturation was achieved after 16 interviews, revealing two main themes: (1) maternal intuition as a guiding force, and (2) navigating the crossroads: coping and reflection on the decision. These themes illustrate an interplay between maternal intuition and intrinsic feelings in the decision whether to perform multifetal pregnancy reduction, seemingly less influenced by external factors. Mothers who adhere to their intuition (15/16) have a low likelihood of experiencing regret. Despite the inclination to share and seek support, a persistent taboo surrounds the topic of multifetal pregnancy reduction. The findings also emphasize a considerable gap in aftercare for women, regardless of their decision.</p><p><strong>Conclusion: </strong>There is a need for improved care and support for parents facing the decision of continuing a triplet pregnancy or deciding on multifetal pregnancy reduction. Efforts should focus on fostering open societal dialog about this taboo subject, and addressing the gap in aftercare to provide comprehensive support to women post-decision and post-birth, thereby establishing a more supportive and compassionate framework.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":"113-124"},"PeriodicalIF":2.7,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11717734/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142807772","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}

{"title":"Indications and Outcomes of Fetal Cystoscopy for Lower Urinary Tract Obstruction: A Comprehensive Review.","authors":"Ugo Maria Pierucci, Irene Paraboschi, Giulia Lanfranchi, Matthieu Peycelon, Gloria Pelizzo, Rodrigo Ruano","doi":"10.1002/pd.6721","DOIUrl":"10.1002/pd.6721","url":null,"abstract":"<p><p>Fetal lower urinary tract obstruction (LUTO) encompasses a spectrum of rare congenital anomalies affecting the fetal urinary system, leading to significant morbidity and mortality. This condition, arising from various anatomical anomalies such as posterior urethral valves (PUV), urethral atresia, and cloacal malformations, disrupts normal urine flow, resulting in secondary complications such as pulmonary hypoplasia and renal impairment. Current management strategies, including fetal vesicoamniotic shunting (VAS) and fetal cystoscopy, aim to alleviate obstruction and mitigate associated risks. While VAS has been a longstanding intervention, fetal cystoscopy presents a promising alternative by enabling direct visualization and targeted treatment of urinary tract obstructions. However, fetal cystoscopy is not without challenges, including technical complexities and risks associated with invasive procedures. This review explores the rationale, indications, technical considerations, outcomes, and future innovations of fetal cystoscopy in managing LUTO. It highlights the critical role of accurate diagnosis, patient selection, and procedural expertise in optimizing fetal and maternal outcomes. Despite existing challenges, ongoing advancements in technology and clinical practice hold the potential for further enhancing the safety and efficacy of fetal cystoscopy, underscoring its evolving role in prenatal care.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":"89-101"},"PeriodicalIF":2.7,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11717740/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142855122","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}

{"title":"Application of Genetic Origin Analysis of Copy Number Variations in Non-Invasive Prenatal Testing.","authors":"Jing Wang, Qing-Wen Zhu, Ai-Ming Cui, Meng-Si Lin, Hai-Qin Lou","doi":"10.1002/pd.6688","DOIUrl":"10.1002/pd.6688","url":null,"abstract":"<p><strong>Objective: </strong>This study aimed to assess the application of origin analysis of copy number variations (CNVs) in non-invasive prenatal testing (NIPT) and provide a basis for expanding the clinical application of NIPT.</p><p><strong>Method: </strong>We enrolled 35,317 patients who underwent NIPT between January 2019 and March 2023. Genome sequencing of copy number variation (CNV-Seq) analysis was performed using the CNV calling pipeline to identify subchromosomal abnormalities in maternal plasma. Genetic origin was determined by comparing the chimaerism ratio of CNV and the concentration of cell-free foetal DNA (cffDNA). All pregnant women with a high risk of CNV, as indicated by the NIPT, were informed of their genetic origins. Amniocentesis was recommended for detecting the CNVs in foetal chromosomes, and pregnancy outcomes were tracked.</p><p><strong>Results: </strong>A total of 109 pregnancies showed clinically significant positive results for CNV after NIPT, including 65 cases of maternal/foetal (M/F)-CNVs and 44 cases of F-CNVs. The occurrence of M/F-CNVs was independent of age, screening (serological or ultrasound) indications for abnormalities, and mode of pregnancy. The incidence of pathogenic/likely pathogenic (P/LP)-F-CNVs was high in cases where serological screening indicated intermediate, high-risk, or abnormal US findings (p < 0.05). In the M/F-CNV group, most of the P/LP-CNVs were small fragments with low penetrance; 55 (84.62%) were less than 5 Mb in size, and nine (13.85%) were between 5 and 10 Mb. In the F-CNV group, foetal P/LP-CNV was detected in 36 of 42 cases undergoing prenatal diagnosis, and no significant bias was noted in the size distribution of P/LP-F-CNV fragments. The prenatal diagnostic rate and positive predictive value in the F-CNV group were 95.45% and 85.71%, respectively, which were significantly different from those in the M/F group (26.15% and 52.95%), respectively (p < 0.05).</p><p><strong>Conclusions: </strong>Genetic origin analysis of CNV can effectively improve adherence to prenatal diagnosis in pregnant women and the accuracy of prenatal diagnosis.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":"44-56"},"PeriodicalIF":2.7,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142472957","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}

{"title":"Prenatal Diagnosis of ACTG2 Visceral Myopathy Presented With Fetal Megacystis Identified in the Second Trimester.","authors":"Qiu-Xia Yu, Na Liu, Li Zhen, Yun-Jing Wen, Dong-Zhi Li","doi":"10.1002/pd.6726","DOIUrl":"10.1002/pd.6726","url":null,"abstract":"<p><p>Variants of the ACTG2 gene cause autosomal dominant ACTG2 visceral myopathy, a disorder of smooth muscle dysfunction of the bladder and gastrointestinal system. Bladder involvement can behave as fetal megacystis (FM). We report four prenatal cases of ACTG2 visceral myopathy. All four cases presented with FM identified by ultrasound in the second trimester. All had invasive genetic investigations during pregnancy, and trio exome sequencing revealed likely pathogenic or pathogenic ACTG2 variants in the fetuses. Three of the four variants were de novo, and one was inherited form mother who had symptoms of smooth muscle dysfunction since childhood. ACTG2 visceral myopathy is the most concern in fetuses with isolated second-trimester megacystis. Genetic diagnosis of single gene disorders associated with FM is useful in parental counseling, pregnancy management and risk assessment of recurrence in future pregnancy.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":"138-140"},"PeriodicalIF":2.7,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142802073","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}