Prenatal Diagnosis最新文献

Placental and Fetal Brain Volumes in Congenital Heart Disease Are Smallest Among Fetuses With Genetic Abnormalities. 先天性心脏病患者的胎盘和胎儿脑容量在遗传异常胎儿中最小。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2025-10-06 DOI: 10.1002/pd.6904

Sonali Ajwani, Erica L Jamro, Kaylin Taylor, Yong Wang, Kathryn Mangin-Heimos, Anthony O Odibo, Ali Gholipour, Erin O'Brien, Caroline K Lee, Joshua S Shimony, James D Quirk, Cynthia M Ortinau

{"title":"Placental and Fetal Brain Volumes in Congenital Heart Disease Are Smallest Among Fetuses With Genetic Abnormalities.","authors":"Sonali Ajwani, Erica L Jamro, Kaylin Taylor, Yong Wang, Kathryn Mangin-Heimos, Anthony O Odibo, Ali Gholipour, Erin O'Brien, Caroline K Lee, Joshua S Shimony, James D Quirk, Cynthia M Ortinau","doi":"10.1002/pd.6904","DOIUrl":"https://doi.org/10.1002/pd.6904","url":null,"abstract":"Objective: To compare placental volumes between pregnancies with and without fetal CHD, including fetuses with CHD and genetic abnormalities, and to investigate the association between placental volume and regional fetal brain volumes.Method: Pregnant women carrying a fetus with critical CHD with or without a genetic abnormality (CHD Genetic or CHD Isolated) or a fetus without CHD (Control) had placental and fetal brain volumes measured from MRI. Mixed effects linear regression models examined the associations between study group and placental and fetal brain volumes.Results: Seventy-one pregnant women/fetuses underwent 124 MRIs. In multivariate analysis, placental volume was 33% smaller among CHD Genetic males, 15% smaller among CHD Isolated males, and 7% smaller among CHD Genetic females compared to Control males. Adjusting for placental volume and confounders, CHD Genetic had smaller total and regional brain volumes compared to Controls. Fetal cortex was not smaller at baseline, but the difference grew over gestation. Reduced brain volumes were present, but less pronounced, for CHD Isolated. Placental volume was independently associated with subcortical gray matter, total brain, and intracranial volumes.Conclusion: Impaired placental and fetal brain development are most prominent for CHD fetuses with genetic abnormalities.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-10-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145233282","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 Recurrence of Ductal Plate Malformations Leads to PKHD1 Variant Reclassification. 导管板畸形的产前复发导致PKHD1变异重分类。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2025-10-03 DOI: 10.1002/pd.6896

Mario Abaji, Laurent Nasca, Marie-Pierre Audrezet, Bénédicte Gerard, Xavier Vanhoye, Cécile Chau, Claude D'Ercole, Annie Levy-Mozziconacci

引用次数: 0

Brachytelephalangic Chondrodysplasia Punctata Phenotype in Prenatally Diagnosed VKCFD1: A Novel GGCX Variant. 产前诊断为VKCFD1的短端骨关节点状软骨发育不良表型：一种新的GGCX变体。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2025-10-01 DOI: 10.1002/pd.6903

Albert Jacob, Arthy Raman, Sree Rekha Jinkala, Sunitha Vellathussery Chakkalakkoombil, Mamatha Gowda

引用次数: 0

Clinical Implications of Low Cell-Free DNA Fetal Fraction in Non-Invasive Prenatal Testing: A Retrospective Cohort Study of 40,716 Pregnancies. 低细胞游离DNA胎儿分数在无创产前检测中的临床意义：40,716例妊娠的回顾性队列研究

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2025-09-29 DOI: 10.1002/pd.6900

Kayono Yamamoto, Nobuhiro Suzumori, Kiyonori Miura, Takahiro Yamada, Yoshimasa Kamei, Hideaki Sawai, Haruka Hamanoue, Osamu Samura, Seiji Wada, Jun Murotsuki, Kiyotake Ichizuka, Reina Komatsu, Yukiko Katagiri, Hiroko Morisaki, Setsuko Nakayama, Kazuya Mimura, Yuko Matsubara, Yoko Okamoto, Kazuhisa Maeda, Shun Yasuda, Akinori Ida, Mika Ito, Hiromi Hayakawa, Arisa Fujiwara, Nahoko Shirato, Tatsuko Ishii, Haruhiko Sago, Akihiko Sekizawa

{"title":"Clinical Implications of Low Cell-Free DNA Fetal Fraction in Non-Invasive Prenatal Testing: A Retrospective Cohort Study of 40,716 Pregnancies.","authors":"Kayono Yamamoto, Nobuhiro Suzumori, Kiyonori Miura, Takahiro Yamada, Yoshimasa Kamei, Hideaki Sawai, Haruka Hamanoue, Osamu Samura, Seiji Wada, Jun Murotsuki, Kiyotake Ichizuka, Reina Komatsu, Yukiko Katagiri, Hiroko Morisaki, Setsuko Nakayama, Kazuya Mimura, Yuko Matsubara, Yoko Okamoto, Kazuhisa Maeda, Shun Yasuda, Akinori Ida, Mika Ito, Hiromi Hayakawa, Arisa Fujiwara, Nahoko Shirato, Tatsuko Ishii, Haruhiko Sago, Akihiko Sekizawa","doi":"10.1002/pd.6900","DOIUrl":"https://doi.org/10.1002/pd.6900","url":null,"abstract":"Objective: This study aimed to investigate the association between fetal fraction (FF) on non-invasive prenatal testing (NIPT) and pregnancy-related complications using a large sample to support improved prenatal management.Methods: This retrospective cohort study included women with singleton pregnancies and negative NIPT results between January 2015 and March 2022 as part of the Japan Multicenter Study. Chi-square tests and binary logistic regression analyses were used to assess the association between FF and pregnancy-related complications.Results: A total of 40,716 responses were analyzed. No significant association was found between FF and placental abruption (χ2 (1) = 2.84, p = 0.09). Women in the low FF group (FF < 10.27%, < 25th percentile) had higher risks of fetal demise, adjusted OR = 1.79, 95% CI [1.31, 2.43]), preterm birth (adjusted OR = 1.63, 95% CI [1.30, 2.06]), fetal growth restriction (FGR) (adjusted OR = 1.50, 95% CI [1.10, 2.05]), and hypertensive disorders of pregnancy (HDP) (adjusted OR = 1.44, 95% CI [1.24, 1.66]). No significant differences were observed for gestational diabetes mellitus (GDM) (adjusted OR = 1.13, 95% CI [0.99, 1.30], p = 0.081).Conclusion: Low FF on NIPT is associated with an increased risk of several pregnancy complications, highlighting the need for careful management.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145192549","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

Fetoscopic Laser Ablation of Type II Vasa Previa-Case Report and Systematic Review. 胎儿镜激光消融II型前置血管一例报告及系统回顾。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2025-09-29 DOI: 10.1002/pd.6897

Rodrigo Ruano, Olivia Mihulka, Aishu Hombal, Natalia Ravelo, Lara Slesnick, Ugo Maria Pierucci

{"title":"Fetoscopic Laser Ablation of Type II Vasa Previa-Case Report and Systematic Review.","authors":"Rodrigo Ruano, Olivia Mihulka, Aishu Hombal, Natalia Ravelo, Lara Slesnick, Ugo Maria Pierucci","doi":"10.1002/pd.6897","DOIUrl":"https://doi.org/10.1002/pd.6897","url":null,"abstract":"Vasa previa is a rare but potentially fatal obstetric condition in which fetal vessels traverse the internal cervical os without the protection of placental tissue or Wharton's jelly, making them highly vulnerable to rupture during labor or spontaneous membrane rupture. This can result in rapid fetal exsanguination and death. While current management involves planned cesarean delivery before the onset of labor, fetoscopic laser ablation (FLA) has recently emerged as a minimally invasive alternative for selected cases, particularly type II and III vasa previa, allowing for pregnancy prolongation and potential vaginal delivery. We report the case of a 40-year-old gravida 3 para 0 woman diagnosed with type II vasa previa at 22 + 5 weeks. FLA was performed successfully at 31 + 5 weeks without complications. At 36 + 5 weeks, she experienced spontaneous rupture of membranes and delivered a healthy male neonate via cesarean section at maternal request. To contextualize this case, we conducted a systematic review of 54 cases from the literature. FLA was associated with a 98.1% technical success rate, 50% vaginal delivery rate, and 100% neonatal survival, with no major maternal complications reported. These findings suggest that FLA may offer a safe and effective alternative to preterm cesarean delivery in selected patients.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145192480","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

Middle Cerebral Artery Peak Systolic Velocity in Fetuses With Transposition of the Great Arteries. 大动脉转位胎儿大脑中动脉收缩速度峰值。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2025-09-29 DOI: 10.1002/pd.6905

Ditte S Jørgensen, Charlotte K Ekelund, Lone Nørgaard, Frederikke H Sander, Jesper Steensberg, Karin Sundberg, Niels Vejlstrup, Olav B Petersen, Cathrine Vedel

{"title":"Middle Cerebral Artery Peak Systolic Velocity in Fetuses With Transposition of the Great Arteries.","authors":"Ditte S Jørgensen, Charlotte K Ekelund, Lone Nørgaard, Frederikke H Sander, Jesper Steensberg, Karin Sundberg, Niels Vejlstrup, Olav B Petersen, Cathrine Vedel","doi":"10.1002/pd.6905","DOIUrl":"https://doi.org/10.1002/pd.6905","url":null,"abstract":"Objective: To examine peak systolic velocity in the middle cerebral artery (MCA-PSV) in fetuses with transposition of the great arteries (TGA) and evaluate if TGA is associated with fetal anemia.Method: A retrospective, exploratory study with inclusion of singleton fetuses born with TGA at Copenhagen University Hospital Rigshospitalet 2016-2023. Data on MCA-PSV, neonatal hemoglobin and specific diagnoses were manually retrieved from patient files.Results: In 52 cases, 205 MCA-PSV measurements from GA 20 + 0 to 39 + 1 met the inclusion criteria. Overall median MCA-PSV MoM was 1.09 (IQR 0.96; 1.20), increasing from 0.97 (IQR 0.86; 1.15) at gestational week 20 + 0 to 24 + 6 to 1.13 (IQR 0.95; 1.19) at gestational week 35 + 0 to 39 + 1. There were no differences in MCA-PSV MoM between cases with and without surgical closure of a VSD. Median hemoglobin concentration was 16.4 g/dL (IQR 15.3-17.2 g/dL) and MCA-PSV was inversely correlated with hemoglobin (-4.81 [95% confidence interval -7.21; -2.41]).Conclusion: The study adds to the limited evidence on MCA-PSV in TGA fetuses, supporting a trend of increasing MCA-PSV MoM with gestational age, although not significant after accounting for multiple measurements. Higher MCA-PSV MoM correlated with lower neonatal hemoglobin. However, findings do not show that TGA fetuses have elevated MCA-PSV due to anemia or that VSD influences MCA-PSV levels.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145192510","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

Outcome of Rare Fetal Septal and Callosal Anomalies: A Systematic Review and Meta-Analysis. 罕见的胎儿间隔和胼胝体异常的结局：系统回顾和荟萃分析。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2025-09-26 DOI: 10.1002/pd.6899

Marina Piergianni, Asma Khalil, Giuseppe Rizzo, Alberto Galindo, Gianluigi Pilu, Lorenza Della Valle, Ilenia Mappa, Francesco D'Antonio

{"title":"Outcome of Rare Fetal Septal and Callosal Anomalies: A Systematic Review and Meta-Analysis.","authors":"Marina Piergianni, Asma Khalil, Giuseppe Rizzo, Alberto Galindo, Gianluigi Pilu, Lorenza Della Valle, Ilenia Mappa, Francesco D'Antonio","doi":"10.1002/pd.6899","DOIUrl":"https://doi.org/10.1002/pd.6899","url":null,"abstract":"Objectives: To report the outcome of isolated rare anomalies of the cavum septi pellucidum (CSP) and corpus callosum (CC), including obliterated CSP, septal agenesis, hypoplasia of the CC, pericallosal lipoma, thin and thick CC and wide and narrow CSP.Methods: Medline, Embase and Cochrane databases were searched. Inclusion criteria were studies reporting the outcome. The outcomes observed were genetic anomalies, associated anomalies detected exclusively at follow-up ultrasound, fetal MRI or post-natal imaging, and adverse neurodevelopmental outcomes. Random-effect meta-analyses of proportions were used to combine data.Results: Thirty-three studies (604 fetuses) were included; an isolated anomaly was reported at the time of the initial diagnosis in 394 fetuses. There was no abnormal karyotype in any of the anomalies explored in the present systematic review. Abnormal neurodevelopmental outcome was reported in 9.7% of children with obliterated CSP, 15.4% of those with isolated septal agenesis, 24.9% of those with hypoplastic CC, 33% of those with thin CC, 8.7% of those with wide CSP, and none of the cases with isolated pericallosal lipoma and tick CC.Conclusion: The outcome is generally favorable in cases of isolated obliterated CSP, pericallosal lipoma, wide CSP and tick CC, while the small number of included cases does not allow drawing a robust conclusion of fetuses presenting with thin CSP and narrow CSP.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145177821","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 Evaluation of Scrotal Masses: A Systematic Literature Review. 阴囊肿块的产前评估：系统的文献综述。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2025-09-26 DOI: 10.1002/pd.6898

Federica Romanzi, Chiara Di Ilio, Chiara Airoldi, Gloria Anderson, Eleonora Torcia, Francesca Felici, Maria Vittoria Alesi, Rossana Cottone, Giulia Di Marco, Elvira Passananti, Alessandra Familiari, Tullio Ghi, Elisa Bevilacqua

{"title":"Prenatal Evaluation of Scrotal Masses: A Systematic Literature Review.","authors":"Federica Romanzi, Chiara Di Ilio, Chiara Airoldi, Gloria Anderson, Eleonora Torcia, Francesca Felici, Maria Vittoria Alesi, Rossana Cottone, Giulia Di Marco, Elvira Passananti, Alessandra Familiari, Tullio Ghi, Elisa Bevilacqua","doi":"10.1002/pd.6898","DOIUrl":"https://doi.org/10.1002/pd.6898","url":null,"abstract":"Evaluation of fetal genitalia is often neglected after determining fetal sex, yet the identification of a scrotal mass may suggest significant underlying conditions requiring specific management. We conducted a systematic literature review, following PRISMA guidelines and registered with PROSPERO (CRD42024559035), on the five most common causes of prenatal scrotal masses: inguinoscrotal hernia (IH), meconium periorchitis (MPO), testicular solid tumors (TST), hydrocele (H), and testicular torsion (TT). A total of 83 cases were included (IH = 31; MPO = 23; TST = 6; H = 10; TT = 13), all diagnosed in the third trimester. IH typically presented as unilateral right-sided masses (63%), while MPO and H were predominantly bilateral (72% and 100%). TST and TT were mainly unilateral with no side preference. IH and MPO showed larger average diameters (> 35 mm). Additional findings were often associated with IH and MPO. MPO had the highest rates of preterm delivery (48%), neonatal medical support (40%), and urgent surgery (60.86%). IH and TST were usually associated with term deliveries and scheduled surgery (92.31% and 100%). TT showed a high incidence of urgent surgery (61.54%). This review outlines key sonographic features of prenatal scrotal masses to guide differential diagnosis and optimize perinatal care strategies.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145177773","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

Congenital Vascular Anomalies: Prenatal Diagnosis, Perinatal Outcome and Postnatal Follow up. 先天性血管异常：产前诊断，围产期结局和产后随访。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2025-09-26 DOI: 10.1002/pd.6902

Stefano Faiola, Vittoria Baraldini, Fiorenza Di Domenico, Alessia Barreca, Daniela Casati, Arianna Laoreti, Elisa Cattaneo, Alice Marianna Munari, Valeria Savasi, Mariano Lanna

{"title":"Congenital Vascular Anomalies: Prenatal Diagnosis, Perinatal Outcome and Postnatal Follow up.","authors":"Stefano Faiola, Vittoria Baraldini, Fiorenza Di Domenico, Alessia Barreca, Daniela Casati, Arianna Laoreti, Elisa Cattaneo, Alice Marianna Munari, Valeria Savasi, Mariano Lanna","doi":"10.1002/pd.6902","DOIUrl":"https://doi.org/10.1002/pd.6902","url":null,"abstract":"Objective: The aims of this study were to evaluate positive predictive value (PPV) of prenatal diagnosis in congenital vascular anomalies (CVAs) and to conduct postnatal follow-up.Method: We reviewed suspected cases of CVAs with confirmed outcomes from 2008 to 2024. We documented the ultrasound (US) characteristics of CVAs as well as magnetic resonance imaging (MRI) findings and genetic tests.Results: Thirty-four fetuses with suspected CVAs were included, with confirmed diagnosis in 30 cases (PPV: 88.2%). Fetal MRI demonstrated complete diagnostic concordance with US, including misdiagnosed cases. PIK3CA variants were absent in amniotic fluid, even in cases that subsequently tested positive on tissue biopsy. Among the 30 confirmed cases of CVAs, 24 (80%) were classified as vascular malformations, with 21 cases (87.5%) resulting in live births, of which 16 cases (76.2%) necessitated treatment. Six cases (20%) were vascular tumors, all resulting in live births, with two cases (33.3%) requiring treatment. Fetuses with anechoic low-flow vascularization masses on prenatal US had 2.7-fold higher need for postnatal intervention compared to fetuses with echogenic high-flow vascularization masses.Conclusion: The PPV of prenatal diagnosis in CVAs is high, with a limited contribution from MRI and genetic testing. Prenatal US characteristics are highly indicative of the nature of the lesion and the necessity for postnatal treatment.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145177858","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

Fetal Anemia and Periventricular Hyperechogenicity/Halo as a Prenatal Indicator of CoQ10 Deficiency Associated With Biallelic Variant in COQ2 Gene. 胎儿贫血和心室周围高回声/晕作为辅酶q10缺乏与辅酶q2基因双等位变异相关的产前指标

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2025-09-26 DOI: 10.1002/pd.6894

Shreyasi Sharma, Chanchal Singh, Vrunda Appannagari, Seema Thakur, Krishan Kapur, Padmavati Vetukuri

{"title":"Fetal Anemia and Periventricular Hyperechogenicity/Halo as a Prenatal Indicator of CoQ10 Deficiency Associated With Biallelic Variant in COQ2 Gene.","authors":"Shreyasi Sharma, Chanchal Singh, Vrunda Appannagari, Seema Thakur, Krishan Kapur, Padmavati Vetukuri","doi":"10.1002/pd.6894","DOIUrl":"https://doi.org/10.1002/pd.6894","url":null,"abstract":"Coenzyme Q10 (CoQ10) is crucial for mitochondrial function, and its deficiency leads to diverse clinical manifestations. Prenatal phenotypes are rarely described, with no prior reports of fetal anemia. We present a case of a 24-year-old primigravida at 28 + 2 weeks gestation with elevated fetal middle cerebral artery peak systolic velocity indicating anemia. Neurosonography revealed bilateral periventricular hyperechogenicity/ halo. Fetal blood sampling confirmed anemia, and exome sequencing identified biallelic likely pathogenic COQ2 variants, confirming CoQ10 deficiency. This case highlights the crucial role of detailed ultrasound and neurosonography in identifying findings like fetal anemia and periventricular hyperechogenicity in the third trimester, aiding in diagnosis of rare conditions such as CoQ10 deficiency. Fetal anemia, typically linked to immunological causes, is presented here for the first time as a prenatal phenotype of CoQ10 deficiency, emphasizing the importance of considering genetic factors in non-immune settings.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145177808","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