Prenatal Diagnosis最新文献

{"title":"Detecting Androgenetic Origin of the Genome via Single-Nucleotide Polymorphism-Based Cell-Free DNA Screening in Dichorionic Diamniotic Twin Pregnancies With Complete Hydatidiform Moles and a Coexisting Normal Fetus: A Three-Case Report.","authors":"Yan-Dong Yang, Rui Zhang, Jun-Hui Wan, Wei-Si Dai, Di Wu, Dong-Zhi Li","doi":"10.1002/pd.70208","DOIUrl":"10.1002/pd.70208","url":null,"abstract":"","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":"1543-1548"},"PeriodicalIF":3.1,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13571785/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148353252","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":"Prenatal Spectrum of COL2A1-Related Spondyloepiphyseal Dysplasia Congenita: A Review and Two Case Reports.","authors":"López-Rodríguez Larissa, León-Madero Luis Felipe, Jiménez-Chaidez Salvador, Gallardo-Gaona Juan Manuel, Rodríguez-Sibaja María Jose, Castañeda-de-la-Fuente Angelica, Del Castillo-Reyes Katia Alejandra, Yañez-Felix Ana Lucia, Morales-Dominguez Valeria, Borboa-Olivares Héctor Jesús, Sevilla-Montoya Rosalba","doi":"10.1002/pd.70201","DOIUrl":"10.1002/pd.70201","url":null,"abstract":"<p><strong>Objective: </strong>To review the published literature on prenatal findings of COL2A1-related SEDC, summarizing reported imaging and molecular variants, and to describe two additional prenatal cases evaluated at a tertiary referral center.</p><p><strong>Method: </strong>A narrative review with a systematic search strategy was conducted to analyze prenatal imaging findings, gestational age at detection, and molecular diagnoses in cases of COL2A1-related SEDC. Clinical and molecular description of two additional fetal cases with postnatal molecular confirmation were also included.</p><p><strong>Results: </strong>Gestational age at initial detection ranged from 11 to 28 weeks. Five reported cases occurred in a familial setting, while two were initially considered sporadic. In several cases, complementary imaging modalities were required to better characterize vertebral and ossification defects. A clear genotype-phenotype correlation could not be reliably established; no specific molecular pattern reliably predicted the severity of prenatal imaging findings or perinatal outcomes.</p><p><strong>Conclusion: </strong>Our findings highlight the nonspecific nature of prenatal manifestations in COL2A1-related SEDC, which despite being largely consistent across cases do not allow for a specific diagnosis without molecular confirmation or a known family history. These challenges underscore the need for a comprehensive diagnostic strategy that integrates detailed imaging, molecular genetic testing, and close collaboration within a multidisciplinary team.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":"1637-1647"},"PeriodicalIF":3.1,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13571802/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148339873","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":"Parental Decision-Making and Pregnancy Outcomes After Increased First-Trimester Nuchal Translucency: A 12-Year Cohort.","authors":"Benjamin Birene, Jean-Paul Bory, Eloi Dondeyne, Anne Charbonneau, Clémence Jacquin, Emilie Landais, Mohamed Dakin, Olivier Graesslin","doi":"10.1002/pd.70224","DOIUrl":"10.1002/pd.70224","url":null,"abstract":"<p><strong>Objective: </strong>To describe diagnostic trajectories and parental decision-making following increased first-trimester nuchal translucency (NT), according to NT thickness.</p><p><strong>Method: </strong>This 12-year retrospective cohort study was conducted at a French tertiary Prenatal Diagnosis and Fetal Medicine Center and included 316 singleton pregnancies with first-trimester NT ≥ 3.5 mm, with or without structural anomalies.</p><p><strong>Results: </strong>Termination of pregnancy occurred in 180/316 pregnancies (57.0%), while 91/316 (28.8%) resulted in live birth without pathology. TOP without prior invasive prenatal testing increased from 7.4% in the 3.5-< 5.0 mm group to 35.0% in the ≥ 6.5 mm group. Invasive prenatal testing was performed in 248 pregnancies. Among 137 pregnancies with an abnormal genetic result and known outcome, 12 (8.8%) were continued. Structural ultrasound assessment was performed in 111 pregnancies; 17/29 (58.6%) with abnormal findings were continued. Among 51 pregnancies that continued after normal genetic testing and normal structural ultrasound, 42 (82.4%) resulted in live birth without pathology at the last follow-up, including 3/8 (37.5%) with NT ≥ 6.5 mm.</p><p><strong>Conclusion: </strong>Parental decisions and outcomes varied with NT thickness. Integrating NT measurements with sequential genetic and ultrasound findings may support individualized prenatal counseling.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":"1520-1528"},"PeriodicalIF":3.1,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13571791/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148448561","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":"Identification of a Novel De Novo HECW2 Gene Pathogenic Variant in a Fetus With Cardiac Abnormalities.","authors":"Kristina Nimchenko, Bettina Bessieres, Gihad E Chalouhi, Antonia Pop, Vanina Castaigne, Bertrand Stos, Marie-Paule Beaujard, Diane Roy, Daniela Laux, Tania Attie-Bitach","doi":"10.1002/pd.70226","DOIUrl":"10.1002/pd.70226","url":null,"abstract":"","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":"1663-1666"},"PeriodicalIF":3.1,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13571798/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148562889","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":"Fetal Interrupted Aortic Arch and Unilateral Duplex Kidney Identified by Second Trimester Ultrasound Prompting Genetic Diagnosis of Neonatal Sclerosing Cholangitis.","authors":"Dan-Ping Huang, Cong-Min Gu, Qiu-Xia Yu, Fan Jiang, Dong-Zhi Li","doi":"10.1002/pd.70232","DOIUrl":"10.1002/pd.70232","url":null,"abstract":"","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":"1672-1675"},"PeriodicalIF":3.1,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13571790/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148654110","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":"Novel Fetal Embolization Technique via Transcardiac Transarterial Ultrasound- and Fluoroscopy-Guided Endovascular Surgery for Vein of Galen Malformation: Preclinical Study in the Fetal Lamb.","authors":"Emma Van den Eede, Karen Chen, Carolyn Altman, Tomohiro Arai, Wasinee Tianthong, Walter Coudyzer, Greetje Vande Velde, Michael Aertsen, Timo Krings, Peter Kan, Caitlin Sutton, Samuel McCluggage, William E Whitehead, Magdalena Sanz Cortes, Larry H Hollier, Luc De Catte, Thierry A G M Huisman, Michael A Belfort, Jan Deprest, Luc Joyeux","doi":"10.1002/pd.70157","DOIUrl":"10.1002/pd.70157","url":null,"abstract":"<p><strong>Objective: </strong>Vein of Galen malformation is associated with significant perinatal morbidity and mortality. Postnatal management typically relies on transarterial embolization of the feeding arteries. To date, fetal therapeutic efforts focused on the transvenous approach. This study aimed to preclinically evaluate the feasibility and safety of a prenatal transarterial approach: Fetal Embolization via Transcardiac Transarterial Ultrasound- and fluoroscopy-guided Surgery (FETTUS).</p><p><strong>Method: </strong>MR-angiography was initially performed in neonatal lambs to identify a target artery for embolization. FETTUS was then standardized in fetal lambs at varying gestational ages. Under maternal-fetal anesthesia, laparotomy-assisted fetal left ventricular access was obtained under ultrasound guidance, a microcatheter was advanced to the target artery under fluoroscopy, and embolization was performed with N-butyl cyanoacrylate. The primary outcome was fetal survival ≥ 30 minutes after confirmed embolization.</p><p><strong>Results: </strong>The internal maxillary artery was chosen as the target artery for embolization. Three fetal lambs underwent successful embolization (100%) at 130 days of gestation (term = 145 days; 2.8 ± 0.6 kg), two out of six (33%) at 100 days of gestation (0.9 ± 0.3 kg) and finally 6 out of 7 (86%) at 120 days of gestation (2.3 ± 0.4 kg). No non-target embolization, ischemia, or hemorrhage was observed on postmortem examination within the limitations of the observations obtained at 30 minutes after the procedure.</p><p><strong>Conclusions: </strong>FETTUS is feasible and safe in fetal lambs at a gestational age equivalent to 30 weeks in humans.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":"1607-1616"},"PeriodicalIF":3.1,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13571808/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147779312","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":"Prenatal Presentation of ENPP1-Associated Generalized Arterial Calcification of Infancy at 15 + 1 Weeks: A Fetal Phenotype-Genotype Report.","authors":"Ismail Tekesin, Gunter Kerst, Loredana Delle Chiaie, April Dinwiddie, Heinz Gabriel","doi":"10.1002/pd.70235","DOIUrl":"10.1002/pd.70235","url":null,"abstract":"","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":"1676-1679"},"PeriodicalIF":3.1,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13571781/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148713665","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":"The Same Homozygous Pathogenic Variant in CHAT Underlies Lethal Fetal Akinesia Syndrome in Three Xhosa South African Fetuses.","authors":"Jade Ramini, Cumine van Tonder, Yolandi Swart, Kerry Rademan, Samantha Budhram, Lut Geerts, Shahida Moosa","doi":"10.1002/pd.70220","DOIUrl":"10.1002/pd.70220","url":null,"abstract":"","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":"1655-1659"},"PeriodicalIF":3.1,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13571782/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148550014","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":"The Utilisation of Genetic Counselling Services Amongst Prenatal Healthcare Providers in Gauteng, South Africa.","authors":"Megan Duvenhage, Katryn Fourie, Monica Araujo","doi":"10.1002/pd.70165","DOIUrl":"10.1002/pd.70165","url":null,"abstract":"<p><strong>Introduction: </strong>Congenital anomalies and genetic disorders contribute substantially to perinatal morbidity and mortality, particularly in low- and middle-income countries. Prenatal healthcare providers play a key role in identifying affected pregnancies and referring to patients for genetic counselling; however, referral practices remain suboptimal.</p><p><strong>Objective: </strong>To assess the utilisation of genetic counselling services and perceptions of genetic counselling among prenatal healthcare providers in Gauteng Province, South Africa.</p><p><strong>Method: </strong>An electronic survey was distributed to prenatal healthcare providers working in public and private healthcare sectors in Gauteng. The survey assessed access to genetic counselling services, referral practices, knowledge of referral indications, understanding of the genetic counsellor's role, and perceived barriers to referral. Fifty-four respondents were included.</p><p><strong>Results: </strong>Seventy-four percent of participants reported being able to refer to patients for genetic counselling, but only 57% had utilised the service. No participant correctly identified all appropriate referral indications, and only 24% understood the scope of practice of genetic counsellors. Only 6% felt confident in their knowledge of genetic counselling.</p><p><strong>Conclusion: </strong>Although genetic counselling services are available and utilised in Gauteng, they are not accessed to their full potential. Improved education and clearer referral guidance are required to optimise prenatal genetic care in this setting.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":"1582-1590"},"PeriodicalIF":3.1,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13571784/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147819771","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":"Severe Early-Onset Fetal Growth Restriction: The Yield of Antenatal and Postnatal Genetic Testing.","authors":"Matthew H Mossayebi, Sophie J Adams, Megan E Bunnell, Stephanie H Guseh, Louise E Wilkins-Haug","doi":"10.1002/pd.70182","DOIUrl":"10.1002/pd.70182","url":null,"abstract":"<p><strong>Objectives: </strong>We evaluated the diagnostic yield of karyotype (KT) and chromosomal microarray (CMA) with isolated severe FGR diagnosed before 32 weeks' gestation. Exome and genome sequencing (ES/GS) level data were available in a subset of this population.</p><p><strong>Method: </strong>We performed a retrospective review of singleton pregnancies (delivered 2022-2025) with estimated fetal weight or abdominal circumference < 3rd percentile before 32 weeks' gestation, no sonographic structural anomalies, and diagnostic testing (KT, CMA, ES, or GS) via amniocentesis or cord blood. Cases with abnormal cell-free DNA were excluded.</p><p><strong>Results: </strong>Forty cases were included (mean diagnosis 26.8 weeks). Testing was performed via amniocentesis in 42% and cord blood in 58%. All KT (27/40) were normal. CMA (39/40) identified one pathogenic CNV (2.5%) and three (7.5%) variants of uncertain significance (VUS). Four (10%) showed ≥ 1 region of absence of heterozygosity (AOH) > 10Mb; one revealed maternal uniparental disomy of chromosome 6. Sequencing (N = 10) detected one VUS in COL1A1. Acute viral infection was not observed in any of the cases.</p><p><strong>Conclusions: </strong>CMA was diagnostic in 2/39 (5.1%) cases, a pathogenic CNV implicating the SHOX gene, and maternal UPD 6, which were consistent with FGR. There was a remarkable rate (10%) of AOH. Further investigation, including placental studies and genome sequencing, may elucidate whether AOH is a contributing factor for FGR.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":"1598-1606"},"PeriodicalIF":3.1,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13571789/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147974680","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}