Prenatal Diagnosis最新文献_第2页

Impact of Maternal Body Mass Index (BMI) on the Performance of Non-Invasive Prenatal Testing (NIPT). 母亲身体质量指数（BMI）对无创产前检测（NIPT）效果的影响

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2026-04-22 DOI: 10.1002/pd.70161

Kristina Valovicova, Marike Polak, Sophie Ottema, Glenn Huijbregts, Marieke Joosten, Karin E M Diderich, Mark Drost, Sandra Heil, Sander Galjaard, Diane Van Opstal, Malgorzata Ilona Srebniak

{"title":"Impact of Maternal Body Mass Index (BMI) on the Performance of Non-Invasive Prenatal Testing (NIPT).","authors":"Kristina Valovicova, Marike Polak, Sophie Ottema, Glenn Huijbregts, Marieke Joosten, Karin E M Diderich, Mark Drost, Sandra Heil, Sander Galjaard, Diane Van Opstal, Malgorzata Ilona Srebniak","doi":"10.1002/pd.70161","DOIUrl":"https://doi.org/10.1002/pd.70161","url":null,"abstract":"Objective: Noninvasive prenatal testing (NIPT) is widely used to screen for common fetal trisomies. Fetal fraction (FF), essential for NIPT accuracy, can be influenced by maternal obesity. This study analyzes NIPT results by obesity status and suggests strategies to improve performance.Method: This observational retrospective study evaluated FF, gestational age, number of re-works and re-sampling, and frequency of non-meaningful and aberrant results in different BMI categories in 26,000 pregnancies that underwent NIPT from April 2023 to March 2024.Results: BMI was significantly associated with higher re-working and re-sampling needs due to non-meaningful results. Low FF (< 4%) occurred in 4.5% of women with normal weight (NW) and in 19.5% of obese women (BMI > 30), with the highest prevalence of 35.5% in women with severe obesity (BMI ≥ 40). The effectiveness of re-working was 56% in obese women (BMI > 30) compared to 79% in a normal weight category (NW). The overall observed positivity rate in obese women was 0.45%, significantly lower than that in NW (0.94%).Conclusion: Our results indicate that NIPT performs suboptimal in obese women due to too low FF. This should be addressed during pre-test counseling and strategies such as re-sampling instead of re-working, or postponing NIPT until after 12 weeks of gestation may be advisable.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-04-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147779320","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 Diagnosis of Posterior Urethral Valves: Timing of Diagnosis and Mid-Term Renal Function When Second and Third Trimester Ultrasounds Are Systematically Performed. 后尿道瓣膜的产前诊断：在妊娠中期和晚期系统进行超声检查时的诊断时机和中期肾功能。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2026-04-21 DOI: 10.1002/pd.70155

Silvia Pecorelli, Mathilde Glenisson, Matthieu Peycelon, Etienne Suply, Sébastien Faraj, Marc-David Leclair, Thomas Blanc, Nicolas Kalfa, Pauline Clermidi, Alexis P Arnaud, Alice Faure, Quentin Ballouhey, Nadia Boudaoud, Yann Chaussy, Luke Harper

{"title":"Prenatal Diagnosis of Posterior Urethral Valves: Timing of Diagnosis and Mid-Term Renal Function When Second and Third Trimester Ultrasounds Are Systematically Performed.","authors":"Silvia Pecorelli, Mathilde Glenisson, Matthieu Peycelon, Etienne Suply, Sébastien Faraj, Marc-David Leclair, Thomas Blanc, Nicolas Kalfa, Pauline Clermidi, Alexis P Arnaud, Alice Faure, Quentin Ballouhey, Nadia Boudaoud, Yann Chaussy, Luke Harper","doi":"10.1002/pd.70155","DOIUrl":"https://doi.org/10.1002/pd.70155","url":null,"abstract":"Objective: The impact of prenatal diagnosis timing in posterior urethral valves is unclear. We aimed to compare renal function between patients with suspected PUV diagnosed before or after 28 weeks of gestation in a population who underwent systematic T2 and T3 ultrasounds.Methods: We performed a retrospective analysis of a prospective cohort of patients with prenatally suspected and postnatally confirmed PUV. Patients were stratified by timing of prenatal ultrasound detection of urinary tract abnormalities (T2 vs T3). We compared nadir creatinine and mid-term eGFR (> 5 years of follow-up).Results: 72 boys with postnatally confirmed PUV were included. Thirty-seven patients (51%) were diagnosed before 28 weeks' gestation (T2 group). This early group had significantly higher NC values (median 38 vs. 26 μmol/L, p < 0.05) and lower eGFR at mid-term follow-up (median 85 vs. 105 mL/min/1.73 m2, p < 0.05) compared to the T3 group.Conclusions: PUV suspected during the second trimester of gestation is associated with significantly worse NC and mid-term renal function compared with those suspected later in pregnancy (T3). Reports of prenatal diagnosis of PUV should dichotomize between T2 and T3 diagnoses. The true rate of PUV that could be diagnosed prenatally is higher than expected.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-04-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147779291","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

Diagnostic Yield of Serial PR Interval Screening for Fetal Heart Block in Anti-SSA/SSB Pregnancies. 抗ssa /SSB妊娠胎心传导阻滞系列PR间隔筛查的诊断率

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2026-04-21 DOI: 10.1002/pd.70153

Alyssa Yeung, Shiri Barbash Hazan, Justina Shafik, Alexa Cohen, Georgios Doulaveris, Pe'er Dar

{"title":"Diagnostic Yield of Serial PR Interval Screening for Fetal Heart Block in Anti-SSA/SSB Pregnancies.","authors":"Alyssa Yeung, Shiri Barbash Hazan, Justina Shafik, Alexa Cohen, Georgios Doulaveris, Pe'er Dar","doi":"10.1002/pd.70153","DOIUrl":"https://doi.org/10.1002/pd.70153","url":null,"abstract":"Method: We conducted a retrospective cohort study of singleton pregnancies with anti-SSA and/or anti-SSB antibodies who underwent serial fetal echocardiography between 2010 and 2022. Surveillance was weekly from 18 to 28 weeks' gestation and monthly thereafter, with mechanical PR intervals obtained by pulsed Doppler. Prolonged PR interval was defined as ≥ 140 ms on three consecutive measurements.Results: A total of 124 pregnancies met the inclusion criteria. Screening began at a median of 19.5 week gestation and continued until 34 weeks, with a median of 14 ultrasounds and 10 PR interval measurements per pregnancy. Three fetuses (2.4%) were diagnosed with heart block: two with first-degree block and one with complete CHB, corresponding to one affected fetus per 359 screening ultrasounds. After dexamethasone, first-degree block either normalized or remained stable. Complete CHB did not reverse.Conclusions: In a high risk, predominantly Hispanic and non-Hispanic black population, universal serial PR-interval screening detected conduction abnormalities at expected rates, but only two of three cases were identified early enough for potential intervention and detection required substantial screening burden per case. These findings support the reconsideration of universal screening and suggest that risk-targeted surveillance may better balance detection with screening burden.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-04-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147779301","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

Free Fetal DNA Testing to Guide Early Intervention in the Management of the Kell Alloimmunized Pregnancy. 免费胎儿DNA检测指导早期干预管理的凯尔异体免疫妊娠。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2026-04-17 DOI: 10.1002/pd.70159

Kenneth J Moise, Thomas Trevett, Stephanie Moench, Erin Moise

引用次数: 0

How Are SNP-Array, Karyotyping, and FISH Applied in Prenatal Practice? A Focus on Diagnosis of Mosaicism Involving the Sex Chromosomes. SNP-Array、核型和FISH在产前实践中的应用？涉及性染色体镶嵌现象诊断的研究进展。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2026-04-17 DOI: 10.1002/pd.70160

Xiaojin Luo, Hongyan Niu, Xiaohang Chen, Fei Zhou, Xiaoyi Cong, Shuangwu Li, Yuanyuan Pei, Liang Chang, Weiqiang Liu, Fengxiang Wei

{"title":"How Are SNP-Array, Karyotyping, and FISH Applied in Prenatal Practice? A Focus on Diagnosis of Mosaicism Involving the Sex Chromosomes.","authors":"Xiaojin Luo, Hongyan Niu, Xiaohang Chen, Fei Zhou, Xiaoyi Cong, Shuangwu Li, Yuanyuan Pei, Liang Chang, Weiqiang Liu, Fengxiang Wei","doi":"10.1002/pd.70160","DOIUrl":"https://doi.org/10.1002/pd.70160","url":null,"abstract":"Objective: This study conducted a comparative analysis of chromosomal karyotyping, SNP-array, and FISH results in 82 prenatal cases of mosaicism involving the sex chromosomes.Methods: A retrospective analysis was conducted on 82 cases of mosaicism involving the sex chromosomes; the analysis focused on the concordance and discrepancies among karyotyping, SNP-array, and FISH results.Results: Among 10,825 high-risk pregnancies undergoing amniocentesis, 82 cases (0.76%) of mosaicism involving the sex chromosomes were detected. These included 60 cases (73.2%) of X or Y chromosome aneuploidy mosaicism and 22 cases (26.8%) with mosaicism accompanied by structural abnormalities. Of the 82 cases, 64 showed consistent results across karyotyping, SNP-array, and FISH, while 18 cases exhibited discrepancies between methods. Among the 18 discordant cases, 12 were diagnosed as mosaicism by karyotyping and FISH but showed normal results on SNP-array. SNP-array identified three additional cases of mosaic X chromosome copy number variations (CNVs). In three cases, Turner mosaicism was diagnosed solely by FISH; both karyotype and SNP-array findings were normal.Conclusions: This study demonstrates that the combination of SNP-array, karyotyping, and FISH can effectively diagnose mosaicism involving the sex chromosomes. Karyotype analysis can effectively identify aneuploidy and balanced translocation mosaicism when X chromosome dosage shows no significant change, whereas SNP array is more effective in detecting mosaic copy number variations < 10 Mb. In cases of discrepant results between the two methods, FISH should be utilized for further verification.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147717713","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

Intrauterine Transfusions in Fetuses Affected by Parvovirus B19: Complications, Challenges and Outcomes. 受细小病毒B19影响的胎儿宫内输血：并发症、挑战和结果

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2026-04-17 DOI: 10.1002/pd.70107

Banu Özbakir, Emma Van den Eede, Lone N Nørgaard, Roland Devlieger, Karin Sundberg, Monique C Haak, Femke Slaghekke

{"title":"Intrauterine Transfusions in Fetuses Affected by Parvovirus B19: Complications, Challenges and Outcomes.","authors":"Banu Özbakir, Emma Van den Eede, Lone N Nørgaard, Roland Devlieger, Karin Sundberg, Monique C Haak, Femke Slaghekke","doi":"10.1002/pd.70107","DOIUrl":"https://doi.org/10.1002/pd.70107","url":null,"abstract":"Objective: This study evaluates the procedural characteristics, complications, and outcomes of intrauterine transfusion (IUT) for fetal anemia caused by parvovirus B19 infection during the 2023-2024 epidemic in Northwestern Europe.Method: This multicenter observational study included all fetuses undergoing IUT for proven parvovirus B19-induced anemia at three tertiary fetal therapy centers in Northwestern Europe. Maternal, fetal, and procedural data were collected from electronic records. Technical challenges and complications were defined a priori. Primary outcomes were procedural characteristics and complications, prenatal neurological outcomes, and perinatal outcomes.Results: A total of 93 IUTs were performed in 74 fetuses. Hydrops fetalis was present in 53%. Technical challenges occurred in 24% of procedures and complications in 18%. 59% of technical challenges and 65% of complications occurred in IUTs performed in hydropic fetuses. Intracranial hemorrhage (ICH) occurred in 10% of fetuses and was associated with lower preoperative hemoglobin (2.3 ± 0.6 g/dL vs. 4.4 ± 2.2 g/dL; p = 0.006). Perinatal survival was significantly lower following IUTs with complications (64%) compared with uncomplicated procedures (91%; p = 0.013).Conclusions: IUT for parvovirus B19-related fetal anemia is technically demanding, with complication rates exceeding prior reports. Complications and challenges significantly reduce perinatal survival. These findings underscore the importance of centralizing care in high-volume fetal medicine centers with experienced operators.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147717649","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

Cross Sectional Study of Prenatal Diagnosis Uptake Among Individuals With Genetic Conditions. 遗传疾病个体产前诊断摄取的横断面研究。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2026-04-15 DOI: 10.1002/pd.70154

Ebunoluwa Ojo, Roni Zemet, Allyson Nevins, Katherine Abraham, April D Adams

{"title":"Cross Sectional Study of Prenatal Diagnosis Uptake Among Individuals With Genetic Conditions.","authors":"Ebunoluwa Ojo, Roni Zemet, Allyson Nevins, Katherine Abraham, April D Adams","doi":"10.1002/pd.70154","DOIUrl":"https://doi.org/10.1002/pd.70154","url":null,"abstract":"Objective: Prenatal diagnostic genetic testing allows for early identification of significant fetal conditions and enables informed decision-making regarding management options. The aim of this study was to assess prenatal testing practice among individuals with genetic conditions.Method: This is a cross-sectional study of maternal and fetal outcomes among individuals with genetic conditions, who delivered between 2011 and 2024. The primary outcomes were the rates of prenatal diagnostic testing and positive neonatal findings.Results: Of 283 cases, 25 (8.8%) individuals underwent prenatal diagnostic testing, of which 24 (96%) specifically tested for the maternal genetic condition. The maternal condition was inherited by 48% of those undergoing prenatal diagnostic testing versus 18.6% of those who underwent post-natal genetic testing. The group that underwent prenatal diagnostic testing had a smaller proportion of autosomal recessive conditions than those who did not undergo diagnostic testing (8% vs. 38%, p = 0.0028).Conclusion: Despite an elevated risk of genetic condition transmission in this cohort, the rate of prenatal diagnostic testing was notably low. Prenatal diagnostic testing has significant implications for perinatal planning and long-term health of the fetus. Further studies should evaluate barriers to and attitudes toward diagnostic testing in individuals with genetic conditions.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147691911","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

Genetic Investigation of Fetal Left-Right Laterality Defects Identified in the Second Trimester of Pregnancy. 妊娠中期胎儿左右侧边畸形的遗传研究。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2026-04-15 DOI: 10.1002/pd.70152

Qiu-Xia Yu, Jia-Chun Guo, Yong-Ling Zhang, Xiang-Yi Jing, Si-Yun Li, Dong-Zhi Li

{"title":"Genetic Investigation of Fetal Left-Right Laterality Defects Identified in the Second Trimester of Pregnancy.","authors":"Qiu-Xia Yu, Jia-Chun Guo, Yong-Ling Zhang, Xiang-Yi Jing, Si-Yun Li, Dong-Zhi Li","doi":"10.1002/pd.70152","DOIUrl":"https://doi.org/10.1002/pd.70152","url":null,"abstract":"Objective: To explore genetic investigative results in fetuses with left-right (LR) laterality defects.Methods: This was a retrospective study of 138 cases with LR defects 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.Results: A total of 138 fetuses, including 79 cases of situs inversus totalis (SIT) and 59 of situs ambiguous (SA), underwent CMA, and none of which revealed clinically significant CNVs. Trio-based ES was performed in 97 cases, including 61 with SIT and 36 with SA. Definitive molecular diagnoses - supported by (likely) pathogenic variants - were established in 8 cases (8.2%). VUS was identified in seven additional cases; all affected genes (DNAH5, DNAH11, TTC21 B, SMAD2, BBS7 and DNAI1) have been reported in association with ciliopathies or LR defects. Collectively, the overall diagnostic yield of ES for LR defects was 15.5% (15/97).Conclusions: Although monogenic causes were identified in only a small subset of LR defective fetuses, the identification of this condition in the prenatal setting warrants comprehensive fetal anatomic evaluation and invasive genetic testing.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147691922","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

Radial Expansion of Chorioamniotic Membranes After Perforation Causes Less Damage Than Fixed Diameter Instruments. 穿孔后绒毛膜羊膜径向扩张比固定直径器械损伤小。

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2026-04-15 DOI: 10.1002/pd.70136

Selena Shirkin, Alice Yu, Eric McAlexander, Jason Murray, Ahmet Baschat

{"title":"Radial Expansion of Chorioamniotic Membranes After Perforation Causes Less Damage Than Fixed Diameter Instruments.","authors":"Selena Shirkin, Alice Yu, Eric McAlexander, Jason Murray, Ahmet Baschat","doi":"10.1002/pd.70136","DOIUrl":"https://doi.org/10.1002/pd.70136","url":null,"abstract":"Objective: Iatrogenic preterm premature rupture of membranes (iPPROM) complicates up to 40% of fetoscopic surgeries, driven by the limited healing potential of the chorioamniotic membrane after perforation. While radial expansion reduces tissue damage in other surgical fields, its application in fetal surgery remains unexplored.Methods: We compared perforations in fresh chorioamniotic membranes created by three devices: standard 2 mm (6Fr) and 4 mm (12Fr) sheathed trocars, and an angioplasty balloon that radially expands from 2 to 4 mm. Perforation dimensions (height, width, area) and shape regularity were analyzed.Results: The angioplasty balloon created perforations with an area comparable to the 2 mm trocar and significantly smaller than the 4 mm trocar. Furthermore, the balloon produced more regularly shaped holes (circles/ellipses), while the 12Fr trocar most often created irregular defects.Conclusion: Radial expansion minimizes after perforation chorioamniotic membrane damage and promotes more regular perforation shapes. This approach warrants further investigation as a potential strategy to reduce iPPROM incidence in fetal therapy.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147691909","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 Diagnosis of Congenital Heart Disease in a Developing Country-A Cross-Sectional Study. 发展中国家先天性心脏病的产前诊断——横断面研究

IF 2.7 2区医学

Prenatal Diagnosis Pub Date : 2026-04-09 DOI: 10.1002/pd.70144

Lina Hammoud, Rana Zareef, Jad Abdul Khalek, Elsie Touma, Rola Ali, Fadi Bitar, Mariam Arabi

{"title":"Prenatal Diagnosis of Congenital Heart Disease in a Developing Country-A Cross-Sectional Study.","authors":"Lina Hammoud, Rana Zareef, Jad Abdul Khalek, Elsie Touma, Rola Ali, Fadi Bitar, Mariam Arabi","doi":"10.1002/pd.70144","DOIUrl":"https://doi.org/10.1002/pd.70144","url":null,"abstract":"Objective: Prenatal detection of congenital heart disease (CHD) remains suboptimal in resource-limited settings. We quantified prenatal CHD detection, fetal echocardiography utilization, and predictors of counseling for fetal echocardiography in future pregnancies.Method: We surveyed parents of children with CHD, capturing key sociodemographics, obstetric history, prenatal screening, use of fetal echocardiography, and future counseling. We compared prenatal versus postnatal diagnoses and used multivariable logistic regression to identify counseling predictors.Results: Among 362 families, only 48 children (13.3%) were diagnosed prenatally, despite nearly universal obstetric follow-up (99.7%) and moderate prenatal ultrasound screening (59.4%). Prenatal ultrasound screening was more frequent among prenatally diagnosed cases (97.9% vs. 53.5%; p < 0.001). Fetal echocardiography was more common when extracardiac malformations were suspected and in moderate-to-complex CHD (p < 0.001). Only 113/362 (31.2%) of families reported receiving counseling for future pregnancies. In multivariable analysis, greater CHD complexity was independently associated with counseling (OR 3.21; p < 0.001), whereas family history of CHD was not (p = 0.91).Conclusions: Prenatal CHD detection was uncommon and driven by screening practices. Counseling regarding fetal echocardiography was inconsistently delivered and concentrated on complex CHD. These findings highlight gaps in referral and counseling, supporting the need for stronger integration between obstetric and pediatric cardiology services.","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-04-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147646147","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