Prenatal Diagnosis最新文献

{"title":"Genetic Analysis in Monochorionic Diamniotic Twins Discordant for One Fetus With Structural Anomalies.","authors":"Luyao Cai, Yao Zhang, Yingjun Yang, Gang Zou, Xing Wei, Jia Zhou, Jianping Chen, Luming Sun","doi":"10.1002/pd.70259","DOIUrl":"https://doi.org/10.1002/pd.70259","url":null,"abstract":"<p><strong>Objective: </strong>Data concerning the prenatal diagnostic value of exome sequencing (ES) for twins with structural anomalies remain limited. Therefore, this study aimed to investigate the genetic etiology of monochorionic diamniotic (MCDA) twins discordant for one fetus with structural anomalies and assess the incremental diagnostic yield of chromosomal microarray analysis (CMA) and ES.</p><p><strong>Methods: </strong>This single-center retrospective study included 170 MCDA twin pregnancies in which one fetus exhibited structural anomalies between December 2012 and July 2023. Both twins underwent genetic testing using karyotyping, CMA, and/or Trio-ES. Since 2021, Beckwith-Wiedemann syndrome (BWS) testing has been performed in patients with exomphalos and negative ES results.</p><p><strong>Results: </strong>Aneuploidy was identified in 8.2% (14/170) of MCDA twin pairs. CMA and Trio-ES provided incremental diagnostic yields of 0.6% (1/160) and 7.1% (3/42), respectively. BWS was confirmed in two fetuses presenting with exomphalos. Abnormal genetic results were detected in only one fetus in 13 cases, including 11 with aneuploidy and two with BWS. Genetic disorders were identified in both fetuses in seven cases, including three with aneuploidy, one with a pathologic copy number variant, and three with causative variants. Discordant genetic results between the twins were observed in 8.8% (15/170) of the cases. Hydrops fetalis and multisystem anomalies were correlated with a higher incidence of genetic disorders.</p><p><strong>Conclusion: </strong>Invasive diagnostic testing should be considered for both twins when one fetus in an MCDA pregnancy presents with structural anomalies. Although CMA offers a limited additional yield, ES improves the detection rate and should be considered for the comprehensive genetic evaluation of MCDA twins discordant for structural anomalies.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":3.1,"publicationDate":"2026-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149196003","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":"First-Trimester Cell-Free DNA Screening for Common Trisomies Using Rolling-Circle Amplification: A Prospective Study.","authors":"Catalina De Paco Matallana, Javier Sánchez Romero, Miriam Pertegal, Juan Luis Delgado, Erica Ramfjord, Kypros H Nicolaides","doi":"10.1002/pd.70260","DOIUrl":"https://doi.org/10.1002/pd.70260","url":null,"abstract":"<p><strong>Objective: </strong>To evaluate cell-free DNA screening for trisomies 21, 18 and 13 using rolling circle replication in an unselected routine first-trimester screening population.</p><p><strong>Method: </strong>This study enrolled 3025 women undergoing first-trimester screening. Excluding unavailable samples, missing outcome data, pregnancy loss and twin gestation, 2729 pregnancies with follow-up remained; 2689 had cell-free DNA results for performance analysis. Cell-free fetal DNA was assessed by rolling circle replication and digital fluorescence detection without PCR or sequencing. Performance was confirmed with cytogenetic results or postnatal outcomes.</p><p><strong>Results: </strong>Among 2729 eligible singleton pregnancies with follow-up, valid cfDNA results were obtained in 2689 cases, corresponding to an overall no-call rate of 40/2729 (1.47%). For trisomy 21, sensitivity was 14/14 (100%; 95% CI, 76.8-100), specificity was 2666/2675 (99.7%; 95% CI, 99.4-99.8), and PPV was 14/23 (60.9%; 95% CI, 38.5-80.3). For trisomy 18, sensitivity was 1/2 (50.0%; 95% CI, 1.3-98.7), specificity was 2681/2687 (99.8%; 95% CI, 99.5-99.9), and PPV was 1/7 (14.3%; 95% CI, 0.4-57.9). No confirmed trisomy 13 cases were observed. Fetal sex was correctly assigned in 2657/2688 cases (98.8%). Testing before 10 weeks' gestation and in IVF pregnancies appeared technically feasible, but these subgroup findings were limited by small numbers.</p><p><strong>Conclusions: </strong>Rolling circle replication-based cell-free DNA screening showed high accuracy for trisomy 21 and fetal sex determination in this unselected routine first-trimester screening population. However, the small number of trisomy 18 and trisomy 13 cases limits conclusions for these aneuploidies.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":3.1,"publicationDate":"2026-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149184090","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":"Biological Specificities of Fetal Anemia Induced by Parvovirus B19 Infection.","authors":"Anaïs Dugas, Paul Maurice, Pierre Olivo-Marin, Mariam Chelghaf, Loriane Franchinard, Ferdinand Dhombres, Lucie Guilbaud, Laurence Berard, Agnès Mailloux, Jean-Marie Jouannic","doi":"10.1002/pd.70266","DOIUrl":"https://doi.org/10.1002/pd.70266","url":null,"abstract":"<p><strong>Objective: </strong>To describe the biological fetal parameters in cases of severe anemia induced by parvovirus B19 (B19V) infection.</p><p><strong>Method: </strong>A retrospective single center study was conducted including cases of fetal anemia due to B19V receiving in utero transfusion (IUT) from January 2011 to May 2024. Biological data from fetal blood at first IUT were collected.</p><p><strong>Results: </strong>65 cases were included. Median Hemoglobin was 3 g/dL [IQR 2.1-3.8] and median reticulocyte count was low (39.9 G/L [IQR 17.0-71.1]). Lymphopenia and elevated erythroblasts were noted in 37.5% and 59.1% of cases, respectively. High Aspartate aminotransferase (AST) levels and hypoproteinemia were observed in 97.6% and 71.4% of cases, respectively. The median lactate dehydrogenase (LDH) level was high (1556.0 U/L [IQR 611.0-2405.0]). Hydropic fetuses significantly exhibited lower hemoglobin levels (median 2.5 g/dL vs. 3.8 g/dL; p = 0.0315), lower platelet counts (median 30.5 G/L vs. 71.5 G/L; p = 0.0014), higher AST (median 97.0 vs. 20.0 U/L; p = 0.0002) and LDH levels (median 2068 vs. 329.5 U/L; p = 0.0002) compared to non-hydropic cases.</p><p><strong>Conclusion: </strong>Severe fetal anemia due to B19V infection is associated with specific hematological and biochemical anomalies, some of which are more pronounced in case of hydrops.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":3.1,"publicationDate":"2026-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149171737","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 Postmortem Examination: Confrontation Between the Required, the Needed, and the Accepted.","authors":"Patricia Ibarra Vilar, Xin Kang, Mieke M Cannie, Jacques C Jani","doi":"10.1002/pd.70280","DOIUrl":"https://doi.org/10.1002/pd.70280","url":null,"abstract":"","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":3.1,"publicationDate":"2026-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149168299","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 Ganglionic Eminence Cysts as an Early Neuroimaging Finding for Mitochondrial Dysfunction Caused by a Novel TMEM70 Variant.","authors":"Sergio Gómez-Limón, Inés Tamarit, Óscar Toldos, Carmina Bermejo, Irene Gómez-Manjón, Francisco Javier Fernández-Martínez, David Coca, Alberto Galindo, Ignacio Herraiz","doi":"10.1002/pd.70270","DOIUrl":"https://doi.org/10.1002/pd.70270","url":null,"abstract":"","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":3.1,"publicationDate":"2026-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149172187","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":"Perinatal Outcomes and Determinants of Elective Embryo Reduction in Trichorionic Triplet Pregnancies.","authors":"Carlota Rodó, Joaquín Temprado, Silvia Arévalo, Eva Roldán, Elena Moreno, Alba Casellas, Anna Maroto, Alba Farràs, Nerea Maiz","doi":"10.1002/pd.70277","DOIUrl":"https://doi.org/10.1002/pd.70277","url":null,"abstract":"<p><strong>Objective: </strong>To evaluate whether elective embryo reduction (ER) reduces maternal obstetric complications in trichorionic triamniotic triplet pregnancies, to identify the maternal characteristics associated with the decision to undergo ER and its extent, and to describe associated perinatal outcomes.</p><p><strong>Methods: </strong>This retrospective study included 120 trichorionic triamniotic triplet pregnancies managed at two tertiary hospitals in Spain (2002-2024). ER to twins or a singleton was offered before 14 weeks of gestation. Maternal characteristics, obstetric complications, and perinatal outcomes were compared between the groups.</p><p><strong>Results: </strong>ER was performed in 27 pregnancies (22.5%): 21 were reduced to twins and six to a singleton. ER was not associated with lower rates of preeclampsia, gestational diabetes, or intrahepatic cholestasis during pregnancy. Women undergoing ER were older, more likely to be multiparous, and less likely to have conceived using assisted reproductive technologies, although on post hoc testing only the difference in mode of conception between the two reduction subgroups remained significant after correction for multiple comparisons. Median gestational age at delivery was significantly higher after ER (36.2 and 36.6 weeks) than with expectant management (33.1 weeks; p < 0.001). Admissions for threatened preterm labor were less frequent after ER (15.0% and 16.7% vs. 42.7%; overall p = 0.033), though this difference did not remain significant after Holm correction for multiple comparisons (adjusted p = 0.068 and p = 0.791, respectively).</p><p><strong>Conclusions: </strong>Elective embryo reduction did not reduce maternal obstetric complications in trichorionic triplet pregnancies, despite prolonging gestation, as previously reported. Maternal age, parity, and mode of conception were associated with the decision to undergo ER, particularly to a singleton, supporting individualized, non-directive counseling.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":3.1,"publicationDate":"2026-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149168294","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":"Where in the Prenatal Screening Pathway do Ethnic and Socioeconomic Inequalities Occur? A UK Retrospective Cohort Study.","authors":"Michelle Peter, Dagmar Tapon, Lyn S Chitty, Melissa Hill","doi":"10.1002/pd.70274","DOIUrl":"https://doi.org/10.1002/pd.70274","url":null,"abstract":"<p><strong>Objective: </strong>To examine if and where ethnic and socioeconomic inequalities arise within the English NHS prenatal screening pathway by investigating associations between ethnicity, socioeconomic deprivation, screening test type, further testing uptake, and pregnancy outcomes.</p><p><strong>Method: </strong>This retrospective cohort study analysed data from 6339 women offered prenatal screening and diagnostic testing at a UK tertiary hospital between January and December 2023. Logistic regression and chi-squared tests assessed associations between ethnicity, socioeconomic deprivation and testing patterns. Only complete cases were analysed.</p><p><strong>Results: </strong>The odds of receiving the less accurate quadruple screening test were higher for women from Black (OR 2.07, 95% CI 1.54-2.77) and Mixed ethnic groups (OR 1.82, 95% CI 1.17-2.73), compared to White women, and higher for those in the most deprived areas (OR = 2.34, 95% CI: 1.44-4.00). Further-testing patterns varied by ethnicity following a high chance screening result, with Black women overrepresented among those recorded as having declined further testing (χ² = 22.06, p = 0.007); however, numbers were small. Pregnancy outcomes appeared broadly aligned with test results, with no clear evidence of variation by ethnicity or socioeconomic deprivation.</p><p><strong>Conclusion: </strong>Ethnic and socioeconomic inequalities were most evident in the earlier stages of the prenatal screening pathway, particularly among Black women. Prioritisation of equitable access to timely screening is critical to ensure prenatal testing benefits all families.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":3.1,"publicationDate":"2026-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149149036","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":"Current Practices in Antenatal CMV Testing and Management in Belgium.","authors":"Elena Costa, Célia Primus-de Jong, Leen Verleye, Renate Zeevaert","doi":"10.1002/pd.70272","DOIUrl":"https://doi.org/10.1002/pd.70272","url":null,"abstract":"<p><strong>Objective: </strong>To describe current practices regarding antenatal cytomegalovirus (CMV) testing, valaciclovir treatment and termination of pregnancy (TOP) in Belgium, where universal antenatal CMV screening is not recommended and testing during pregnancy is not reimbursed.</p><p><strong>Method: </strong>We conducted an online survey of practitioners involved in antenatal care or specialist management of CMV (obstetricians, midwives, general practitioners, fetal medicine specialists) between September and November 2024. Quantitative data from complete questionnaires were analyzed using descriptive statistics, and responses to open questions underwent thematic analysis.</p><p><strong>Results: </strong>We analyzed 298 complete responses. Most respondents (89.4%) reported requesting antenatal CMV testing despite antenatal CMV screening not being recommended in Belgium and the absence of routine reimbursement for CMV testing during pregnancy. Antenatal testing may have included both determination of maternal serostatus and testing intended to detect primary maternal infection or seroconversion. Testing objectives included fetal imaging follow-up, hygiene counseling, and prevention of vertical transmission with valaciclovir, while considering TOP was less frequently cited. TOP was perceived as occurring at all stages after maternal infection, but predominantly in cases of severe fetal involvement. Among fetal medicine specialists, 51.7% prescribed valaciclovir routinely, while others prescribed it non-routinely. Treatment acceptance and adherence were perceived as good, with cost identified as the main barrier for treatment acceptance and high pill burden identified as the main barrier for treatment adherence.</p><p><strong>Conclusion: </strong>Antenatal CMV testing was commonly reported among respondents, despite heterogeneous use due to cost barriers. TOP may occur even in cases without severe fetal involvement, underscoring the need for high-quality counseling and updated national guidance.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":3.1,"publicationDate":"2026-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149138026","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 of Pregnancies With an Isolated Fetal Pelvic Kidney.","authors":"Qiu-Xia Yu, Li Zhen, Qi Tain, Si-Yun Li, Jia-Chun Guo, Yong-Ling Zhang, Dong-Zhi Li","doi":"10.1002/pd.70271","DOIUrl":"https://doi.org/10.1002/pd.70271","url":null,"abstract":"<p><strong>Objective: </strong>To explore genetic investigative results in fetuses with isolated pelvic kidney.</p><p><strong>Methods: </strong>This was a retrospective study of 212 fetuses with isolated pelvic kidney diagnosed on second trimester anatomy ultrasound. All cases underwent invasive prenatal diagnosis for copy number variant (CNV) detection by chromosomal microarray analysis (CMA). For those with a negative CNV, trio exome sequencing (ES) was an option. Clinical and laboratory data were collected and reviewed for these cases, including maternal demographics, prenatal sonographic findings, molecular testing results, and pregnancy outcomes.</p><p><strong>Results: </strong>In total, 212 cases underwent CMA testing, which identified one case of pathogenic CNV, specifically a de novo 16p11.2 microdeletion. Among the cases that yielded negative results from CMA, 118 proceeded to trio ES. Five (4.2%; 5/118) disease-causing variants across five unrelated fetuses, involving four genes: DLL1, KMT2D, PTEN and PRKG1, with two cases harboring distinct pathogenic variants in KMT2D. Following rigorous phenotype-genotype correlation assessment, only the two KMT2D variants were deemed clinically attributable, resulting in an attributable diagnostic yield of 1.7% (2/118). The remaining three variants were classified as incidental findings. With the exception of the PRKG1 variant, which was inherited from the mother, the remaining four variants were confirmed as de novo.</p><p><strong>Conclusion: </strong>Our results should raise clinical awareness among obstetricians and maternal-fetal medicine specialists regarding the potential syndromic associations of pelvic kidney.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":3.1,"publicationDate":"2026-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149128222","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":"From Isolated to Complex: Diagnostic Yield of Chromosomal Microarray and Exome Sequencing in Fetal Growth Restriction.","authors":"Hadas Miremberg, May Shabat, Maya Stok, Vered Offer Glasner, Adi Botvinik, Mordechai Shohat, Michal Levy, Yuval Yaron, Roee Birnbaum, Sharon Perlman, Gustavo Malinger, Karina Krajden Haratz","doi":"10.1002/pd.70258","DOIUrl":"https://doi.org/10.1002/pd.70258","url":null,"abstract":"<p><strong>Objective: </strong>To characterize the overall diagnostic yield of sequential chromosomal microarray (CMA) and exome sequencing (ES) across the phenotypic spectrum of fetal growth restriction (FGR).</p><p><strong>Methods: </strong>A retrospective cohort of 320 consecutive FGR pregnancies presenting at ≥ 20 weeks to a tertiary fetal medicine unit (2020-2025). All patients underwent a dedicated anatomical survey, including neurosonography. Cases were classified as isolated or non-isolated and characterized by organ system, severity, gestational age at onset, and Doppler status. Genetic counseling was offered to all patients.</p><p><strong>Results: </strong>FGR was isolated in 199/320 (62.2%) and non-isolated in 121/320 (37.8%); 218/320 (68.1%) were early-onset (< 32 weeks) and 96/320 (30%) had abnormal Doppler. CMA was performed in 237/320 (74.1%), yielding an abnormality in 5.5% (13/237). Of these, only 5/237 (2.1%) were considered causative of the FGR phenotype. ES was performed in 149/320 (46.6%), with an overall FGR-causative yield of 10.7% (16/149), significantly higher in non-isolated versus isolated cases (18.5% vs. 4.8%; p = 0.014). Abnormal Doppler did not preclude a monogenic diagnosis (5/16 FGR-causative cases).</p><p><strong>Conclusions: </strong>FGR carries a substantial genetic yield, supporting stratified testing across the phenotypic spectrum. A monogenic diagnosis and placental vascular disease are not mutually exclusive. A molecular etiology provides information for counseling, recurrence-risk assessment, and reproductive planning, regardless of outcome.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":3.1,"publicationDate":"2026-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149127926","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}