Prenatal Diagnosis最新文献

{"title":"Multicentric Longitudinal Performance Monitoring of Different Prenatal Cell-Free DNA Screening Technologies in Belgium.","authors":"Armelle Duquenne, Nathalie Brison, Ilse Parijs, Angelica Pagliazzi, Machteld Baetens, Bettina Blaumeiser, Marie Bruneau, Saskia Bulk, Bert Callewaert, Sandra Coppens, Michelle Deberg, Anne De Leener, Marjan De Rademaeker, Julie Désir, Koenraad Devriendt, Annelies Fieuw, Jean-Stéphane Gatot, Mauricette Jamar, Sandra Janssens, Lore Lannoo, Axel Marichal, Björn Menten, Colombine Meunier, Bruno Pichon, Sonia Rombout, Ileen Slegers, Yves Sznajer, Olivier Vanakker, Kim Van Berkel, Leen Vancoillie, Ann Van Den Bogaert, Isabelle Vandernoot, Kris Van Den Bogaert, Joris R Vermeesch, Katrien Janssens","doi":"10.1002/pd.70236","DOIUrl":"10.1002/pd.70236","url":null,"abstract":"<p><strong>Objective: </strong>Prenatal cell-free DNA screening is widely used to assess the risk of fetal trisomy 21, 18, and 13. Although commercial and laboratory-developed tests (LDTs) show high accuracy in validation studies, real-world longitudinal performance data are lacking.</p><p><strong>Method: </strong>In Belgium, prenatal cell-free DNA screening is a population screening offered to all pregnant people, regardless of their a priori risk. Over 3 years, all confirmatory diagnostic tests after a positive prenatal cell-free DNA screening result were recorded along with the technologies used and their outcomes. Positive predictive values (PPVs) for the three common fetal trisomies were calculated per technology.</p><p><strong>Results: </strong>A total of 1158 diagnostic tests were performed after a positive prenatal cell-free DNA screening. Of these, 58.5% came from an LDT, 15.7% from VeriSeq (Illumina), 6.6% from Harmony (Roche), 5% from Vanadis (Perkin-Elmer); for 14.2% the technology could not be traced. PPVs ranged from 92.2% to 65.7% for trisomy 21, from 82.8% to 44.4% for trisomy 18, and from 40% to 18.2% for trisomy 13. Overall, the LDT performed better than the commercial tests.</p><p><strong>Conclusion: </strong>This study confirms the reported accuracy of commercial tests and LDT, while showing that LDT generally outperforms commercial tests. Despite high specificities across tests, differences in PPVs significantly impact pregnant people and the national health care system.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":"1771-1777"},"PeriodicalIF":3.1,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148797309","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":"Genetic Etiology of Miscarriage in a Vietnamese Cohort Using CNV-Seq and Exome Sequencing.","authors":"Minh Doan Thai, Khanh Vu Nguyen, Y-Thanh Lu, Thu-Hang Le Nguyen, Minh Ngoc Phan, Huong Van Pham, Trung Thanh Nguyen, Hoa Thi Phuong Bui, Lan-Anh Thi Luong, Chuong Hong Duong, Sim Thi Nguyen, Son Van Hoang, Mai-Anh Thi Pham, Son Ta Vo, Ngoc-Ha Thi Tran, Thu Huong Nhut Trinh, Thi Minh Thi Ha, Nhat-Thang Tran, Van Thong Nguyen, Quang Thanh Le, Diem-Tuyet Thi Hoang, My-Nhi Ba Nguyen, Yen Nhi Nguyen, Linh Trang Le, Tung Son Nguyen, Thien-Phuc Hoang Nguyen, Dinh-Kiet Truong, Thanh-Thuy Thi Do, Uyen Vu Tran, Duy Minh Phan, Tuong Manh Ho, Hoai-Nghia Nguyen, Hoa Giang, Hung-Sang Tang","doi":"10.1002/pd.70215","DOIUrl":"10.1002/pd.70215","url":null,"abstract":"<p><strong>Objective: </strong>Pregnancy loss affects approximately 15% of pregnancies worldwide, with genetic abnormalities being a major cause. This study aimed to investigate the genetic etiologies of pregnancy loss in Vietnam and to characterize associated clinical features.</p><p><strong>Method: </strong>This retrospective study included 636 pregnancy loss cases from a multicenter Vietnamese cohort across 18 centers (2022-2024). Products of conception were analyzed using copy number variant sequencing (CNV-seq, n = 636) and clinical exome sequencing (CES, n = 401).</p><p><strong>Results: </strong>Genetic etiologies were identified in 209 of 636 cases (32.9%). Numerical chromosomal abnormalities accounted for 27%, structural abnormalities for 3%, and single-gene variants for 2%. Sixteen pathogenic variants in 12 genes were detected, with FGFR3 and skeletal dysplasia being the most common monogenic finding. CNV-seq and CES detected abnormalities in 30.7% and 3.5% of cases, respectively. Among cases with identified genetic anomalies, 71.3% presented with early pregnancy loss (≤ 12 weeks), 47.4% had a history of prior pregnancy loss, 31.1% were of advanced maternal age.</p><p><strong>Conclusion: </strong>This study provides a preliminary descriptive analysis of genetic causes of pregnancy loss in a Vietnamese cohort. The application of CNV-seq and CES may be helpful in identifying genetic causes and can help inform the management of future pregnancies.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":"1760-1770"},"PeriodicalIF":3.1,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148430476","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":"Considering Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) in Prenatal Genetic Assessment of Cystic Renal Anomalies.","authors":"Noel Deep Luke, Lois Sara James, Manisha Madhai Beck, Preethi Raja Navaneethan, Rekha Aaron, Sumita Danda","doi":"10.1002/pd.70254","DOIUrl":"https://doi.org/10.1002/pd.70254","url":null,"abstract":"<p><strong>Objective: </strong>Multiple acyl-CoA dehydrogenase deficiency (MADD) is caused by variants in the ETFA, ETFB or ETFDH genes. MADD type 1, the most severe phenotype, presents antenatally with congenital anomalies and, commonly, renal cystic anomalies. We describe four prenatal cases with MADD-related genetic findings, detailed ultrasound findings, and outcomes.</p><p><strong>Methods: </strong>This is a retrospective case series presenting the MADD cases detected with associated fetal renal anomalies. The spectrum of congenital anomalies associated with MADD in the brain, heart, and urinary system is documented. Disease-causing genetic variants are described. Genotype-phenotype correlations for the variants are also discussed.</p><p><strong>Results: </strong>Of 32 cases with prenatally detected renal anomalies who underwent prenatal testing, four cases had MADD-related genetic findings. In these four cases, three unique variants were reported (one missense variant of uncertain significance and two likely pathogenic frameshift variants). Additional findings seen in our cohort included a double-outlet right ventricle in one case and bilateral megaureters in another. Prenatal diagnosis of MADD proved beneficial for one couple (case 1) in a subsequent pregnancy.</p><p><strong>Conclusion: </strong>MADD is an important monogenic cause to consider for prenatal renal anomalies. These cases exemplify the importance of including this disorder when planning prenatal genetic testing for renal cystic anomalies.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":3.1,"publicationDate":"2026-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149064125","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":"Cardiovascular and Hemodynamic Adaptations in Selective Fetal Growth Restriction: A Cohort Study of Monochorionic Twins.","authors":"Tanchanok Auwattanamongkol, Nisarat Phithakwatchara, Katika Nawapun, Sommai Viboonchart, Suparat Jaingam, Kanokwaroon Watananirun, Sriwipa Kaewsrinual, Tuangsit Wataganara","doi":"10.1002/pd.70257","DOIUrl":"https://doi.org/10.1002/pd.70257","url":null,"abstract":"<p><strong>Objective: </strong>In monochorionic diamniotic twins with selective fetal growth restriction (sFGR), the Gratacós type is defined by one vessel in one fetus. We asked how much cerebral, venous and myocardial divergence between co-twins it captures.</p><p><strong>Method: </strong>Single-center combined retrospective-prospective cohort; one diagnostic examination per pregnancy. Six larger-minus-smaller contrasts were estimated by mixed-effects models on outcome-specific complete pairs. Observed-profile likelihood characterized type-specific phenotypes; HC3 models, bootstrapping and Holm/Benjamini-Hochberg correction tested between-type differences and determinants.</p><p><strong>Results: </strong>Eighty-two pregnancies were included (type I, 27; II, 51; III, 4). The larger co-twin had higher MCA-PI and biventricular MPI and lower MCA-PSV and DV-PIV (all Holm p ≤ 0.006). A coordinated arterial-venous and biventricular profile characterized type II/III alone, yet between-type separation was confined to MCA-PI (1.19 z; 95% CI 0.49-1.88; Holm p = 0.009); neither MPI contrast survived correction. Weight discordance tracked MCA-PSV asymmetry (-0.14 MoM per 10%; Holm p = 0.018), and type modified DV-PIV asymmetry across gestational age (-1.25 z per 2 weeks; Holm p = 0.017), retained excluding type III.</p><p><strong>Conclusion: </strong>Umbilical-artery type is mirrored principally by cerebral redistribution. Myocardial alteration is present, including in the larger co-twin, but did not separate types at this sample size, remaining a research phenotype.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":3.1,"publicationDate":"2026-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149064132","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":"Comparative Screening Performance of Noninvasive Prenatal Testing in Assisted Reproduction and Spontaneous Pregnancies.","authors":"Liang Hu, Xianzhen Cao, Shuxian Zeng, Xiaoyi Liu, Lijuan Wen, Weiqiang Liu, Fengxiang Wei","doi":"10.1002/pd.70255","DOIUrl":"https://doi.org/10.1002/pd.70255","url":null,"abstract":"<p><strong>Objective: </strong>To compare noninvasive prenatal testing (NIPT) performance between pregnancies conceived with assisted reproductive technology (ART) and spontaneously conceived pregnancies, and explore NIPT application characteristics in the ART population.</p><p><strong>Method: </strong>A single-center retrospective study enrolled 193,376 pregnancies undergoing NIPT, divided into assisted conception (n = 7021) and spontaneous conception (n = 186,355) groups. Prenatal diagnosis for positive results and follow-up were conducted. Participant profiles, positive rates, prenatal diagnosis rates and positive predictive values (PPVs) were compared for the two groups.</p><p><strong>Results: </strong>The assisted conception group had a higher maternal age (32.12 ± 4.79 years), twin pregnancy rate (13.63%), NIPT failure rate (0.60%), and lower fetal cell-free DNA fraction (13.11 ± 6.76%). The overall NIPT-positive rate (1.82%) did not differ between spontaneously conceived pregnancies after adjusting for twin and maternal age (p = 0.078). No differences in common trisomy-positive rate, prenatal diagnosis rate, PPVs, or termination of pregnancy were observed between the two groups. The PPVs of NIPT for sex chromosome aneuploidies (SCAs), rare autosomal aneuploidies (RAAs), and copy number variants (CNVs) were also not significant between the two groups.</p><p><strong>Conclusion: </strong>NIPT performs comparably for common trisomies, SCAs and CNVs in ART-conceived and spontaneously conceived pregnancies. But ART pregnancies have higher NIPT failure rates and distinct positive result profiles, requiring targeted genetic counseling.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":3.1,"publicationDate":"2026-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149064100","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":"Diagnostic Yield of Sequencing in Prenatal Agenesis of the Corpus Callosum in a Well-Phenotyped International Cohort.","authors":"Lorraine Dugoff, Natalie Chandler, Stephanie Allen, Sarah A Graham, Vicki Harrison, Anne McCabe, Anna de Burca, Audrey Smith, Erina Sasaki, Mairead Hagarty, Juliana S Gebb, Shelly Soni, Sonika Agarwal, Beverly G Coleman, Haley M Crane, Mary E Norton, Billie R Lianoglou, Alex Gibbs, Lyn S Chitty","doi":"10.1002/pd.70252","DOIUrl":"https://doi.org/10.1002/pd.70252","url":null,"abstract":"<p><strong>Objective: </strong>To evaluate the incremental diagnostic yield of sequencing in a large, well-phenotyped international cohort of fetuses with prenatally diagnosed agenesis of the corpus callosum (ACC) and to identify associated genes and variants.</p><p><strong>Methods: </strong>Retrospective multicenter cohort study of fetuses with a prenatal diagnosis of ACC undergoing sequencing after nondiagnostic chromosomal microarray. Clinical data were obtained from prenatal ultrasound and fetal MRI reports. Cases were classified as isolated ACC, ACC with additional central nervous system (CNS) abnormalities, or ACC with extracranial abnormalities. Variants were classified according to the ACMG or ACGS criteria.</p><p><strong>Results: </strong>Among 321 fetuses with ACC, a pathogenic or likely pathogenic (P/LP) variant was identified in 97 cases (30.2%). Diagnostic yield increased with phenotypic complexity: 17.3% in isolated ACC, 25.7% in ACC with additional CNS abnormalities, and 41.0% in ACC with extracranial abnormalities. MRI confirmation was available in 249 cases (77.6%) and did not alter overall diagnostic yield of genetic testing. No significant difference in yield was observed between complete ACC and other ACC types. P/LP variants were identified in 51 genes, most frequently TUBA1A.</p><p><strong>Conclusion: </strong>Sequencing provides substantial diagnostic yield in prenatally diagnosed ACC, particularly when additional CNS or extracranial anomalies are present. These findings support the use of exome or genome sequencing in the prenatal evaluation of ACC and emphasize the importance of detailed phenotyping to improve classification, interpretation and counseling.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":3.1,"publicationDate":"2026-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149064110","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":"Genetic Investigation in Fetal Growth Restriction: An Integrated Approach for Clinical Practice.","authors":"Eran Ashwal, David Chitayat","doi":"10.1002/pd.70250","DOIUrl":"https://doi.org/10.1002/pd.70250","url":null,"abstract":"<p><p>International guidelines recommend genetic testing when fetal growth restriction (FGR) accompanies structural anomalies, but recommendations for apparently isolated FGR remain variable, particularly regarding gestational age thresholds and the role of exome sequencing (ES). Interpretation is difficult because studies define FGR inconsistently, applying differing severity thresholds and \"isolated\" criteria, producing wide variation in reported yields. Chromosomal microarray analysis (CMA) provides an incremental yield of approximately 3% over karyotyping in isolated FGR, with pathogenic or likely pathogenic findings of 0%-8.1% across defined isolated subgroups, compared with approximately 10% in FGR with structural anomalies. After non-diagnostic CMA, ES yields pathogenic diagnoses in approximately 7%-18% of selected isolated cases and in over 30% of cohorts with structural anomalies. Fetal phenotype is the strongest predictor of ES yield, particularly in cases with disproportionately short long bones; the absence of clinical, Doppler, or biochemical evidence of placental insufficiency may indicate a higher genetic likelihood. Current ES data remain limited by small samples and heterogeneous definitions. The sFlt-1/PlGF ratio may distinguish placental-mediated from genetically determined growth restriction and refine selection for genomic testing, although this remains hypothesis-generating. We propose a phenotype-driven framework, applicable to singleton pregnancies, integrating sonographic phenotype, placental assessment, and prior screening to guide genetic testing in FGR.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":3.1,"publicationDate":"2026-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149064096","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":"Initial Review of Government-Funded Reproductive Carrier Screening for Cystic Fibrosis, Spinal Muscular Atrophy and Fragile X Syndrome.","authors":"Paul A Scuffham, Edwin P Kirk, Martin B Delatycki, Martin Downes, Nigel G Laing","doi":"10.1002/pd.70251","DOIUrl":"https://doi.org/10.1002/pd.70251","url":null,"abstract":"","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":3.1,"publicationDate":"2026-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149040395","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":"The Australian PreGen Study: Results From Prospective Prenatal Exome Sequencing in 275 Pregnancies.","authors":"Conor Rowntree, Gemma Fernihough, Sarah Long, Mohammad Al-Shinnag, Alyssa Wilson, Jayamala Parmar, Natalie Hart, Mandi MacShane, Kate Ross, Di Milnes, Benjamin Kamien, Jan E Dickinson, Jon Hyett, John Smoleniec, Lesley McGregor, Rachael Stenhouse, Rebecca Vink, Sebastian Lunke, Meg Wall, Lucas de Jong, Abhijit Kulkarni, Rosalie Kenyon, Jinghua Feng, Matilda R Jackson, Karin Kassahn, Hamish S Scott, Edwin Kirk, Martin Smith, Futao Zhang, Josh Kraindler, Luke Rynehart, Rupendra Shrestha, Deborah Schofield, Ying Zhu, Michael F Buckley, George McGillivray, Tony Roscioli","doi":"10.1002/pd.70256","DOIUrl":"https://doi.org/10.1002/pd.70256","url":null,"abstract":"<p><strong>Objective: </strong>Prenatal exome sequencing (pES) is increasingly to standard care for diagnosing the etiology of fetal structural anomalies (FSA). We evaluated trio pES outcomes in the national multicentre, prospectively recruited Australian Government-funded cohort, including diagnostic yield, frequency of variants of uncertain significance (VOUS), incidental findings and impacts on pregnancy management.</p><p><strong>Method: </strong>Prospective referral and analysis were undertaken for 275 consented families nation-wide for trio pES. Eligibility was based on predefined FSA criteria and an uninformative chromosome microarray. Sequencing was performed in one of three clinically accredited national referral laboratories.</p><p><strong>Results: </strong>The pES diagnostic yield for pathogenic/likely pathogenic variants was 31.6% (87/275, 95% CI; 26.4-37.4). VOUS and incidental findings occurred at a rate of 4.4% (12/275) and 1.5% (4/275) respectively. Termination of pregnancy (TOP) occurred more frequently in diagnosed families, whereas live births were more common in the uninformative cohort.</p><p><strong>Conclusion: </strong>pES demonstrated a high diagnostic yield with low VOUS and incidental finding rates. Outcomes differed between diagnosed and uninformative families, with TOP more frequent after genomic diagnoses. These findings support pES as a core diagnostic test for antenatal FSA evaluation and emphasise the importance of consistent phenotype ontology, body system classification, and eligibility criteria for fetal genomic sequencing.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":3.1,"publicationDate":"2026-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149040378","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":"Fetal Intracranial Hemorrhage: What to Tell Expecting Parents?","authors":"Shiri Shinar, Yada Kunpalin, Elka Miller","doi":"10.1002/pd.70253","DOIUrl":"https://doi.org/10.1002/pd.70253","url":null,"abstract":"<p><p>To review the classification, epidemiology, etiology, prenatal diagnostic approach, and neurodevelopmental outcomes of fetal intracranial hemorrhage (ICH), and to provide clinicians with a practical, fetal-specific framework for investigating and counseling families facing this diagnosis. Narrative review of the current evidence on fetal ICH, encompassing intraventricular hemorrhage (IVH) and periventricular hemorrhagic infarction (PVHI), cerebellar hemorrhage, and extra-axial bleeding, with a primary focus on IVH as the most common presentation. The true prenatal incidence of fetal ICH is uncertain, with estimates of 0.5-1 per 10,000 pregnancies likely underestimating the true burden. Etiologies are diverse, including fetal-neonatal alloimmune thrombocytopenia (FNAIT), monogenic vasculopathies (notably COL4A1/COL4A2), congenital infection, fetal anemia, coagulopathy, and twin-related complications; however, a definitive cause is identified in fewer than half of cases even after complete workup, with a genetic etiology found in roughly 30% of fully investigated cases. Detailed neurosonography remains the primary diagnostic tool, with fetal MRI serving as an important adjunct for characterizing hemorrhage extent, associated parenchymal injury, and posterior fossa involvement. Outcomes vary substantially by hemorrhage grade, location, and laterality: low-grade IVH generally carries a favorable prognosis, while PVHI-for which the Bassan territorial classification aids prognostication-carries substantially higher rates of cerebral palsy, ventriculoperitoneal shunting, and cognitive impairment, particularly when extensive and bilateral. Existing prognostic data derive largely from small, heterogeneous neonatal cohorts using a grading system not designed for the fetal context, limiting the precision of individualized counseling. Fetal ICH is rare, etiologically heterogeneous, and variable in severity, and current evidence does not support precise individualized outcome prediction. A thorough, systematic evaluation and an interdisciplinary team approach are essential, with transparent communication about the inherent uncertainties forming the foundation of parental counseling.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":3.1,"publicationDate":"2026-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149008794","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}