Prenatal Diagnosis最新文献

Extended Non-Invasive Prenatal Testing for Chromosomal and Monogenic Disorders by Cell-Free DNA Sequencing: A Blinded Comparison With Amniocentesis. 无细胞DNA测序扩展无创产前染色体和单基因疾病检测：与羊膜穿刺术的盲法比较。

IF 3.1 2区医学

Prenatal Diagnosis Pub Date : 2026-10-20 DOI: 10.1002/pd.70285

Alvaro Mesoraca, Katia Margiotti, Marco Fabiani, Francesco Libotte, Laura D'Emidio, Raffaella Raffio, Chiara Pasquale, Antonella Cima, Mauro Truglio, Antonella Viola, Claudio Giorlandino

{"title":"Extended Non-Invasive Prenatal Testing for Chromosomal and Monogenic Disorders by Cell-Free DNA Sequencing: A Blinded Comparison With Amniocentesis.","authors":"Alvaro Mesoraca, Katia Margiotti, Marco Fabiani, Francesco Libotte, Laura D'Emidio, Raffaella Raffio, Chiara Pasquale, Antonella Cima, Mauro Truglio, Antonella Viola, Claudio Giorlandino","doi":"10.1002/pd.70285","DOIUrl":"https://doi.org/10.1002/pd.70285","url":null,"abstract":"Objective: To determine whether molecular integrated non-invasive fetal exome sequencing (iNIFS), using clinical exome sequencing of maternal-plasma cell-free DNA, concords per pregnancy with paired amniocentesis.Method: Prospective, blinded, single center, paired sample diagnostic accuracy study in 641 consecutive pregnancies referred for clinically indicated amniocentesis at 16-18 weeks. Plasma cell-free DNA underwent low-pass whole-genome sequencing for aneuploidies and CNVs and, after short-fragment enrichment, clinical exome sequencing within a parent fetus trio design. The reference standard comprised QF-PCR, karyotyping, array-comparative genomic hybridization and, where indicated, trio clinical exome sequencing on amniotic-fluid DNA.Results: iNIFS was reportable in 624/641 pregnancies (97.3%); 612 (95.5%) had complete paired data and formed the analysis population. The reference established a pathogenic or likely pathogenic finding in 107/612 (17.5%). NIPT gave 106 true positives, 503 true negatives, 2 discordant positives and 1 discordant negative: sensitivity 99.1% (95% CI 94.9-99.8), specificity 99.6% (98.6-99.9), PPV 98.1% (93.5-99.5), NPV 99.8% (98.9-100.0), agreement 99.5% and Cohen's κ 0.98. The discordant negative was a maternally inherited variant, the class for which distinguishing maternal from fetal contributions is most challenging.Conclusion: Molecular iNIFS showed high concordance with paired amniocentesis across chromosomal, copy-number and monogenic findings, while retaining an explicit no call rate. Multicentre validation and invasive confirmation of positive findings remain necessary.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":3.1,"publicationDate":"2026-10-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149228523","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

Complete Agenesis of the Corpus Callosum and Increased Nuchal Fold in a Fetus With Bainbridge-Ropers Syndrome due to a Likely Pathogenic ASXL3 Variant. 可能由致病性ASXL3变异引起的Bainbridge-Ropers综合征胎儿胼胝体完全发育和颈褶增加

IF 3.1 2区医学

Prenatal Diagnosis Pub Date : 2026-10-18 DOI: 10.1002/pd.70284

Shreyasi Sharma, Chanchal Singh, Radhika Aggarwal, Seema Thakur, Nitika Sobti

引用次数: 0

Genome-Wide NIPT With Fetal-Fraction Enrichment and BinDel: Clinical Cohort Evaluation of Microdeletion and -Duplication Detection. 全基因组NIPT与胎儿分数富集和BinDel：微缺失和重复检测的临床队列评估。

IF 3.1 2区医学

Prenatal Diagnosis Pub Date : 2026-10-18 DOI: 10.1002/pd.70286

Karmen Vaiküll, Priit Paluoja, Signe Mölder, Vadym Gryshchenko, Neeme Tõnisson, Andres Salumets, Kaarel Krjutškov

{"title":"Genome-Wide NIPT With Fetal-Fraction Enrichment and BinDel: Clinical Cohort Evaluation of Microdeletion and -Duplication Detection.","authors":"Karmen Vaiküll, Priit Paluoja, Signe Mölder, Vadym Gryshchenko, Neeme Tõnisson, Andres Salumets, Kaarel Krjutškov","doi":"10.1002/pd.70286","DOIUrl":"https://doi.org/10.1002/pd.70286","url":null,"abstract":"Objective: To evaluate the analytical and clinical performance of fetal fraction (FF) enriched genome-wide noninvasive prenatal testing (GW-NIPT) for the detection of clinically relevant copy number variants (CNVs) down to 1 Mb.Methods: We retrospectively analyzed 10,501 singleton pregnancies tested with FF enrichment-based GW-NIPT between August 2023 and July 2025. CNV analysis was performed using BinDel and WisecondorX.Results: FF enrichment increased the mean FF to 24% (2.4-fold increase). Clinically relevant CNVs, including microdeletions and microduplications, were detected down to approximately 1 Mb. Performance was robust across all maternal body mass index (BMI) categories. The retest rate was 0.95%, resulting in a final no-call rate of 0.03% with no BMI-attributable failures. The workflow demonstrated high observed sensitivity, specificity, and positive predictive value for common aneuploidies, rare autosomal trisomies, sex chromosome aneuploidies and subchromosomal CNVs.Conclusions: FF enrichment enhances the analytical resolution of first-trimester GW-NIPT, extending detection of subchromosomal CNVs to approximately 1 Mb across diverse patient populations, although detection at the lower end of this range remains fetal-fraction dependent. This approach broadens the scope of prenatal screening while maintaining low test failure rates. All positive findings require confirmatory diagnostic testing and appropriate genetic counseling.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":3.1,"publicationDate":"2026-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149220663","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

Cost-Effectiveness of Universal and Contingent NIPT Within a Multi-Tariff Healthcare System: A Full Incremental Decision-Analytic Cohort Study. 在多关税医疗保健系统中普遍和偶然NIPT的成本效益：一个完整的增量决策分析队列研究。

IF 3.1 2区医学

Prenatal Diagnosis Pub Date : 2026-10-17 DOI: 10.1002/pd.70282

Mehmet Bülbül, Anıl Turhan Çakır, Gerçek Aydın, Mehmet İbrahim Harma, Azize Cemre Öztürk, Aykut Barut, Müge Harma

{"title":"Cost-Effectiveness of Universal and Contingent NIPT Within a Multi-Tariff Healthcare System: A Full Incremental Decision-Analytic Cohort Study.","authors":"Mehmet Bülbül, Anıl Turhan Çakır, Gerçek Aydın, Mehmet İbrahim Harma, Azize Cemre Öztürk, Aykut Barut, Müge Harma","doi":"10.1002/pd.70282","DOIUrl":"https://doi.org/10.1002/pd.70282","url":null,"abstract":"Objective: To compare universal and contingent non-invasive prenatal testing (NIPT) strategies within a multi-tariff healthcare system using a full incremental cost-effectiveness framework and to identify price levels at which universal NIPT becomes economically competitive with the best reflex strategy.Method: A deterministic decision-analytic cohort model representing 1,000,000 pregnancies was developed. For each strategy, trisomy detection, false-positive and missed cases, invasive procedures, procedure-related fetal loss, and short-term psychological quality-adjusted life year (QALY) losses were estimated. Medical costs were derived from public, university, and private-sector tariffs. Incremental costs, QALY losses avoided, and cost-effectiveness ratios were calculated across all strategies; CT-based pairwise analyses were retained as secondary analyses. Price-threshold analyses and probabilistic sensitivity analysis generated threshold estimates and acceptability curves.Results: Contingent NIPT strategies markedly reduced false-positive results and invasive procedures, yielding the lowest short-term QALY losses. In full incremental analysis, Reflex300 was the only strategy on the frontier in private-sector scenarios, whereas CT and Reflex300 remained on the frontier in SUT and university scenarios. uNIPT was not selected on the frontier and became economically competitive only at substantially reduced unit prices.Conclusions: Reimbursement structure strongly influenced cost-effectiveness. Contingent NIPT was robust, whereas uNIPT required substantially lower tariff-aligned pricing to become economically competitive.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":3.1,"publicationDate":"2026-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149216616","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

Polymicrogyria and Cardiac Arrhythmia in a Neonate With Biallelic Stop-Gain Variant in TMEM161B: Expanding the Phenotype. TMEM161B双等位基因停止增益变异的新生儿多小回畸形和心律失常：扩大表型。

IF 3.1 2区医学

Prenatal Diagnosis Pub Date : 2026-10-16 DOI: 10.1002/pd.70263

Miriam Bertrand, Ute Grasshoff, Cornelia Wiechers, Dennis Witt, Vivien Richter, Andreas Dufke, Karl Oliver Kagan, Tobias B Haack

引用次数: 0

Provider Practice and Patient Clinical Follow-Up Among Patients With Spinal Muscular Atrophy (SMA) Linked-Variant. 脊髓性肌萎缩症（SMA）相关变异患者的提供者实践和患者临床随访。

IF 3.1 2区医学

Prenatal Diagnosis Pub Date : 2026-10-16 DOI: 10.1002/pd.70276

Elizabeth Critchlow, Whitney Bender, Melissa Riegel, Lorraine Dugoff

{"title":"Provider Practice and Patient Clinical Follow-Up Among Patients With Spinal Muscular Atrophy (SMA) Linked-Variant.","authors":"Elizabeth Critchlow, Whitney Bender, Melissa Riegel, Lorraine Dugoff","doi":"10.1002/pd.70276","DOIUrl":"https://doi.org/10.1002/pd.70276","url":null,"abstract":"Background: The American College of Obstetricians and Gynecologists (ACOG) recommends spinal muscular atrophy (SMA) carrier screening be offered preconception or prenatally. SMA linked-variant incurs an increased but not absolute risk of being a carrier.Objective: To describe the patient population, clinical recommendations, and follow-up in a cohort with SMA linked-variant.Study design: This is a retrospective cohort study performed at an urban, academic, tertiary care center of patients with the SMA linked-variant approximately 2017-2021. Descriptive statistics characterize the patient population, provider recommendations, and patient follow-up.Results: There were 856 patients, majority Black (94.2%), who tested positive for the SMA linked-variant. There was documentation of result disclosure to patients in only 62.6% of cases. Genetic counseling (88.8%) and partner testing (62.5%) were most often offered. At least one suggested follow-up was completed by 29.1% of patients, with 162 patients (30.2%) receiving genetic counseling and 61 (11.4%) undergoing partner testing.Conclusion: Providers documented disclosure of SMA linked-variant results in only 2/3 of cases, and patients completed at least some of the offered clinical follow-up in only 1/3 of cases, both major gaps in care quality. Additional research is needed to understand and improve the suboptimal result review and low rates of patient follow-up.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":3.1,"publicationDate":"2026-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149207761","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

Standardized Technique for Full Laser Ablation of Feeding Artery in Fetuses With Bronchopulmonary Sequestration and Large Pleural Effusion: Lessons Learned Over 14 Years of Experience. 支气管肺隔离和大量胸腔积液胎儿供血动脉全激光消融的标准化技术：14年的经验教训。

IF 3.1 2区医学

Prenatal Diagnosis Pub Date : 2026-10-15 DOI: 10.1002/pd.70273

Rogelio Cruz-Martínez, Miguel Martínez-Rodríguez, Andrea Peláez-Jiménez, Abel Guzmán-Ochoa, Rubén Huaraz-Zuloaga, Ricardo Ordorica-Flores

{"title":"Standardized Technique for Full Laser Ablation of Feeding Artery in Fetuses With Bronchopulmonary Sequestration and Large Pleural Effusion: Lessons Learned Over 14 Years of Experience.","authors":"Rogelio Cruz-Martínez, Miguel Martínez-Rodríguez, Andrea Peláez-Jiménez, Abel Guzmán-Ochoa, Rubén Huaraz-Zuloaga, Ricardo Ordorica-Flores","doi":"10.1002/pd.70273","DOIUrl":"https://doi.org/10.1002/pd.70273","url":null,"abstract":"Objective: To report on perinatal outcomes and technical aspects of standardized fetal surgery technique with full laser coagulation of the feeding artery in fetuses with bronchopulmonary sequestration and large pleural effusion.Method: During a 14-year period, a prospective cohort of fetuses with BPS and large pleural effusion were selected for laser coagulation in a single national reference center for fetal surgery. Feasibility, perinatal outcomes, complications, survival, respiratory morbidity, and need for neonatal lung mass resection are reported.Results: 29 fetuses were treated at a median gestational age of 28.4 weeks. Hydrops was present in 13 (44.8%) cases. In 2 fetuses (6.9%), an intrathoracic bleeding was observed during fetal intervention, one presenting with intrauterine demise at 23 weeks of gestation. Median gestational age at birth was 38.9 weeks. Two fetuses (6.9%) were born preterm (33 and 35 weeks). Neonatal respiratory morbidity was reported in 3 neonates requiring oxygen support and in 2 neonates requiring mechanical ventilation. One fetus required postnatal thoracic surgery. There were no neonatal deaths; hence, the overall survival rate was 96.6% (28/29).Conclusions: Fetuses with BPS and large pleural effusion treated by laser coagulation of the feeding vessel have good perinatal outcomes and low risk of complications.","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":"149196132","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

Transplacental Flecainide and/or Digoxin for Fetal Tachyarrhythmias: Therapeutic Efficacy and Clinical Experience. 经胎盘氟氯胺和/或地高辛治疗胎儿快速心律失常：疗效和临床经验。

IF 3.1 2区医学

Prenatal Diagnosis Pub Date : 2026-10-15 DOI: 10.1002/pd.70278

Mukpradab Darakamas, Sanitra Anuwutnavin, Fuanglada Tongprasert, Wisit Chankhunaphas, Kanyarat Nilto, Supaluck Kanjanauthai, Jarupim Soongswang

{"title":"Transplacental Flecainide and/or Digoxin for Fetal Tachyarrhythmias: Therapeutic Efficacy and Clinical Experience.","authors":"Mukpradab Darakamas, Sanitra Anuwutnavin, Fuanglada Tongprasert, Wisit Chankhunaphas, Kanyarat Nilto, Supaluck Kanjanauthai, Jarupim Soongswang","doi":"10.1002/pd.70278","DOIUrl":"https://doi.org/10.1002/pd.70278","url":null,"abstract":"Objective: To assess the efficacy and safety of transplacental flecainide and/or digoxin for fetal tachyarrhythmias when sotalol is unavailable.Method: We evaluated transplacental flecainide, digoxin, or combination therapy in a retrospective and prospective cohort across two Thai tertiary centers. Outcomes were classified as complete cardioversion, partial response (rate control), or treatment failure.Results: Of 24 eligible pregnancies, 14 (58.3%) had supraventricular tachycardia (SVT), 8 (33.3%) had atrial flutter (AFL), and 2 (8.3%) had ventricular tachycardia (VT). Overall, clinical responses occurred in 91.7% (22/24) of fetuses. Flecainide monotherapy achieved 100% (9/9) complete cardioversion in SVT, compared with 50% (1/2) for digoxin. SVT combination therapy (n = 3) yielded 1 complete and 1 partial response. Among 7 flecainide-treated AFL cases, 5 (71.4%) achieved rate control and 2 (28.6%) achieved cardioversion; one digoxin-treated case fully converted. Flecainide resolved 1 of 2 VT cases (50%). Response rates were unaffected by hydrops, gestational age, or cardiac defects (p = 0.087-1.000). Maternal adverse events were mild and required no treatment discontinuation.Conclusion: Transplacental flecainide demonstrates high efficacy in SVT and effective rate control with preserved cardiac function in AFL. Its favorable safety profile makes it a practical alternative for first-line therapy where sotalol is unavailable and flecainide monitoring is infeasible.","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":"149196179","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

Microbial Culture Profiles Following Fetal Surgery Versus Spontaneous Preterm Prelabor Rupture of Membranes in Multifetal Gestations. 胎儿手术后的微生物培养对比多胎妊娠中自发早产胎膜破裂。

IF 3.1 2区医学

Prenatal Diagnosis Pub Date : 2026-10-15 DOI: 10.1002/pd.70283

Ohad Houri, Kinneret Tenenbaum Gavish, Bar Narkis, Ofir Sternfeld, Yael Haring, Eran Hadar, David Danon, Ana Idelson, Nir-Ram Duvdevani, Yuval Gielchinsky

{"title":"Microbial Culture Profiles Following Fetal Surgery Versus Spontaneous Preterm Prelabor Rupture of Membranes in Multifetal Gestations.","authors":"Ohad Houri, Kinneret Tenenbaum Gavish, Bar Narkis, Ofir Sternfeld, Yael Haring, Eran Hadar, David Danon, Ana Idelson, Nir-Ram Duvdevani, Yuval Gielchinsky","doi":"10.1002/pd.70283","DOIUrl":"https://doi.org/10.1002/pd.70283","url":null,"abstract":"Objective: To assess microbial culture profiles and antibiotic resistance patterns in pregnancies complicated by preterm prelabor rupture of membranes (PPROM) following fetal surgery compared with spontaneous PPROM without fetal surgery.Method: This retrospective cross-sectional study included women with multiple pregnancies and PPROMs < 34 weeks who underwent fetal surgery between September 2018 and January 2024. The study group comprised those who had undergone fetoscopic laser surgery (FLS) or selective fetal reduction (SFR). Endocervical swab and urine cultures were obtained upon PPROM, and placental, uterine and neonatal blood cultures were collected at delivery. A control group included women with multiple pregnancies and PPROMs < 34 weeks without fetal surgery. Cases with other fetal surgeries, terminations of the pregnancy, or delivery prior to 23 weeks were excluded.Results: Among 126 fetal surgeries, 39 (30.9%) developed PPROM; 32 met inclusion criteria. Compared to controls (n = 31), the fetal surgery group had higher rates of positive cultures (42.7% vs. 13.9% of site-level cultures, p < 0.01), and of ampicillin/macrolide resistance (18.8% vs. 4.3%, p < 0.01). There tended to be more positive placental cultures (43.8% vs. 25.8%, p = 0.47) in the fetal surgery group. No early-onset neonatal sepsis occurred in the fetal surgery group but one in the control group.Conclusion: PPROM following fetal surgery was characterized by a distinct bacterial profile and greater ampicillin/macrolide resistance than spontaneous PPROM. These exploratory findings warrant prospective confirmation before informing changes to clinical practice.","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":"149196088","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

Non-Invasive Prenatal Diagnosis of Haemoglobinopathies: From Concept to Clinical Reality. 血红蛋白病的无创产前诊断：从概念到临床现实。

IF 3.1 2区医学

Prenatal Diagnosis Pub Date : 2026-10-15 DOI: 10.1002/pd.70279

Irene Leonidou, Leila Sallie, Morgan Jean Bell-Ricketts, Alexandros Abdel Massih, Lisa Joy Kaiser, Ashley Hoi Kiu Wong, María Teresa Martín Monreal, Panicos Shangaris

{"title":"Non-Invasive Prenatal Diagnosis of Haemoglobinopathies: From Concept to Clinical Reality.","authors":"Irene Leonidou, Leila Sallie, Morgan Jean Bell-Ricketts, Alexandros Abdel Massih, Lisa Joy Kaiser, Ashley Hoi Kiu Wong, María Teresa Martín Monreal, Panicos Shangaris","doi":"10.1002/pd.70279","DOIUrl":"https://doi.org/10.1002/pd.70279","url":null,"abstract":"Haemoglobinopathies are the most prevalent monogenic disorders worldwide, contributing significantly to childhood morbidity and mortality. Preventive strategies, including carrier screening and prenatal diagnosis, have successfully reduced disease incidence in regions with established programmes. However, definitive prenatal diagnosis currently relies on invasive procedures, such as chorionic villus sampling and amniocentesis, which carry a small but significant risk of pregnancy loss. Non-invasive prenatal diagnosis (NIPD) offers a potential alternative that enables earlier diagnosis and eliminates procedure-related miscarriage risk. This narrative review explores the genetic basis and global burden of haemoglobinopathies, current screening strategies and the established invasive diagnostic approaches before critically evaluating the emergence of NIPD for sickle cell disease and thalassaemias. We summarise the principal methodological approaches, including relative haplotype dosage and relative mutation dosage, reviewing evidence from published studies and clinical trials. While multiple NIPD strategies demonstrate promising results, challenges remain including variable fetal fraction, technical complexity, cost and accuracy. Additionally, substantial global inequities persist regarding access to screening and diagnostic services, particularly in regions suffering from higher disease burden. Although NIPD could potentially improve the acceptability and uptake of prenatal diagnosis, routine clinical adoption for haemoglobinopathies requires further validation to demonstrate consistently high diagnostic accuracy, alongside standardised methodologies and reduced costs.","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":"149196096","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