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Validation of Fetal Medicine Foundation charts for fetal growth in twins: nationwide Danish cohort study. 胎儿医学基金会图表对双胞胎胎儿发育的验证:丹麦全国性队列研究。
IF 6.1 1区 医学 Q1 ACOUSTICS Pub Date : 2024-10-27 DOI: 10.1002/uog.29125
S E Kristensen, A Wright, D Wright, K Gadsbøll, C K Ekelund, P Sandager, F S Jørgensen, E Hoseth, L Sperling, H J Zingenberg, K Sundberg, A McLennan, K H Nicolaides, O B Petersen

Objective: To assess the validity of the Fetal Medicine Foundation (FMF) chorionicity-specific models for fetal growth in twin pregnancy.

Methods: This was an external validation study of the FMF models using a nationwide Danish cohort of twin pregnancies. The cohort included all dichorionic (DC) and monochorionic diamniotic (MCDA) twin pregnancies with an estimated delivery date between 2008 and 2018, which satisfied the following inclusion criteria: two live fetuses at the first-trimester ultrasound scan (11-14 weeks' gestation); biometric measurements available for the calculation of estimated fetal weight (EFW) using the Hadlock-3 formula; and delivery of two liveborn infants. Validation involved assessing the distributional properties of the models and estimating the mean EFW Z-score deviations. Additionally, the models were applied to pregnancies that delivered preterm and attended non-scheduled visits (complicated pregnancies).

Results: Overall, 8542 DC and 1675 MCDA twin pregnancies met the inclusion criteria. In DC twins, 17 084 fetuses were evaluated at a total of 95 346 ultrasound scans, of which 44.5% were performed at scheduled visits in pregnancies carried to 37 + 0 weeks or later. The median number of growth scans per DC twin fetus from 20 + 0 weeks onwards was four. The model showed good agreement with the validation cohort for scheduled visits in DC twins delivered at 37 + 0 weeks or later (mean EFW Z-score, -0.14 ± 1.05). In MCDA twins, 3350 fetuses underwent 31 632 eligible ultrasound scans, of which 59.5% were performed at scheduled visits in pregnancies carried to 36 + 0 weeks or later. The median number of growth scans per MCDA twin fetus from 16 + 0 weeks onwards was 10. The model showed favorable agreement with the validation cohort for scheduled visits in MCDA twins delivered at 36 + 0 weeks or later (mean EFW Z-score, -0.09 ± 1.01). Non-scheduled visits and preterm delivery before 37 + 0 weeks for DC twins and before 36 + 0 weeks for MCDA twins corresponded with smaller weight estimates, which was consistent with the study's definition of complicated pregnancy.

Conclusions: The FMF models provide a good fit for EFW measurements in our Danish national cohort of uncomplicated twin pregnancies assessed at routine scans. Therefore, the FMF models establish robust criteria for subsequent investigations and potential clinical applications. Future research should focus on exploring the consequences of clinical implementation, particularly regarding the identification of twins that are small-for-gestational age, as they are especially susceptible to adverse perinatal outcome. © 2024 The Author(s). Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.

目的评估胎儿医学基金会(FMF)绒毛膜特异性模型对双胎妊娠胎儿生长的有效性:这是一项利用丹麦全国双胎妊娠队列对 FMF 模型进行的外部验证研究。该队列包括所有预产期在2008年至2018年之间的双绒毛膜双胎(DC)和单绒毛膜双胎(MCDA)妊娠,这些妊娠符合以下纳入标准:在第一孕期超声扫描(孕11-14周)时有两个活胎儿;生物测量数据可用于使用Hadlock-3公式计算估计胎儿体重(EFW);并有两个活产婴儿出生。验证包括评估模型的分布特性和估计平均 EFW Z 分数偏差。此外,这些模型还适用于早产和未按计划就诊的孕妇(复杂妊娠):共有 8542 例 DC 双胎和 1675 例 MCDA 双胎符合纳入标准。在直肠双胎中,17 084 名胎儿共接受了 95 346 次超声波扫描,其中 44.5%是在妊娠 37+0 周或更晚的孕妇接受定期检查时进行的。从 20+0 周起,每个 DC 双胎的生长扫描次数中位数为 4 次。该模型与验证队列中在37+0周或更晚分娩的直肠畸形双胞胎中进行的定期检查结果显示出良好的一致性(平均EFW Z-score,-0.14 ± 1.05)。在 MCDA 双胎中,有 3350 个胎儿接受了 31 632 次符合条件的超声扫描,其中 59.5%是在妊娠 36+0 周或更晚时进行的计划访视中进行的。从 16+0 周起,每个 MCDA 双胎的生长扫描次数中位数为 10 次。该模型与验证队列对 36+0 周或更晚分娩的 MCDA 双胎的计划访视显示出良好的一致性(平均 EFW Z-score,-0.09 ± 1.01)。非计划访视和早产(DC 双胞胎在 37+0 周之前、MCDA 双胞胎在 36+0 周之前)与较小的体重估计值相对应,这与该研究对复杂妊娠的定义一致:FMF模型很好地拟合了常规扫描评估的丹麦全国无并发症双胞胎队列中的EFW测量值。因此,FMF 模型为后续研究和潜在的临床应用建立了可靠的标准。未来的研究应侧重于探索临床应用的后果,特别是在识别小于胎龄的双胞胎方面,因为这些双胞胎特别容易出现不良围产期结局。© 2024 作者姓名妇产科超声》由 John Wiley & Sons Ltd 代表国际妇产科超声学会出版。
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引用次数: 0
Predicting neonatal mortality prior to discharge from hospital in prenatally diagnosed left congenital diaphragmatic hernia. 预测产前诊断左侧先天性膈疝患者出院前的新生儿死亡率。
IF 6.1 1区 医学 Q1 ACOUSTICS Pub Date : 2024-10-24 DOI: 10.1002/uog.29121
S Shinar, A Otvodenko, D Kajal, P P L Chiu, S Lee, P S Shah, T Van Mieghem, Y Kunpalin, A-M Guerguerian, G Ryan, N Abbasi

Objectives: To evaluate the association of standardized prenatal imaging parameters and immediate neonatal variables with mortality prior to discharge in infants with isolated left congenital diaphragmatic hernia (LCDH), and to compare the performance of ultrasound- and magnetic resonance imaging (MRI)-based severity grading for the prediction of neonatal mortality.

Methods: This was a retrospective study of infants with prenatally diagnosed isolated LCDH referred to a single tertiary center between 2008 and 2020. Fetuses with right or bilateral congenital diaphragmatic hernia, additional major structural anomaly or known genetic condition, as well as cases that underwent fetal intervention or declined postnatal intervention, were excluded. Ultrasound and MRI images were reviewed retrospectively. Univariable and multivariable analyses were performed, incorporating prenatal and immediate neonatal factors to analyze the association with neonatal mortality prior to discharge, and a prediction calculator was generated. The performance of ultrasound and that of MRI for the prediction of neonatal mortality were compared.

Results: Of 253 pregnancies with fetal CDH, 104 met the inclusion criteria, of whom 77 (74%) neonates survived to discharge. Seventy-five fetuses underwent both prenatal ultrasound and MRI. On multivariable analysis, observed/expected (o/e) lung-to-head ratio and o/e total fetal lung volume were associated independently with neonatal death (adjusted odds ratio, 0.89 (95% CI, 0.83-0.95) and 0.90 (95% CI, 0.84-0.97), respectively), whereas liver position was not. There was no significant difference in predictive performance between using ultrasound and MRI together (area under the receiver-operating-characteristics curve (AUC), 0.85 (95% CI, 0.76-0.93)) compared with using ultrasound alone (AUC, 0.81 (95% CI, 0.72-0.90); P = 0.19). The addition of neonatal parameters (gestational age at birth and small-for-gestational age) did not improve model performance (AUC, 0.87 (95% CI, 0.80-0.95)) compared with the combined ultrasound and MRI model (P = 0.22). There was poor agreement between severity assessment on ultrasound and MRI (Cohen's κ, 0.19). Most discrepancies were seen among cases deemed to be non-severe on ultrasound and severe on MRI, and outcomes were more consistent with MRI-based prognostication.

Conclusions: In fetuses with prenatally diagnosed isolated LCDH, mortality prediction using standardized ultrasound and MRI measurements performed reasonably well. In cases classified as non-severe on ultrasound, MRI is recommended, as it may provide more accurate prognostication and assist in the determination of candidacy for fetal intervention. © 2024 The Author(s). Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.

目的评估标准化产前成像参数和新生儿即时变量与孤立性左侧先天性膈疝(LCDH)婴儿出院前死亡率的关系,并比较基于超声和磁共振成像(MRI)的严重程度分级在预测新生儿死亡率方面的性能:这是一项回顾性研究,研究对象是2008年至2020年间转诊至一家三级医疗中心的产前诊断为孤立性LCDH的婴儿。排除了右侧或双侧先天性膈疝、其他主要结构异常或已知遗传病的胎儿,以及接受胎儿干预或拒绝产后干预的病例。对超声和核磁共振图像进行了回顾性分析。结合产前和新生儿期因素进行单变量和多变量分析,分析出院前新生儿死亡率的相关性,并生成预测计算器。比较了超声和磁共振成像在预测新生儿死亡率方面的性能:结果:在253例患有胎儿CDH的孕妇中,104例符合纳入标准,其中77例(74%)新生儿存活至出院。75名胎儿同时接受了产前超声和磁共振成像检查。在多变量分析中,观察/预期(o/e)肺头比和o/e胎儿肺总量与新生儿死亡独立相关(调整后的几率分别为0.89(95% CI,0.83-0.95)和0.90(95% CI,0.84-0.97)),而肝脏位置与新生儿死亡无关。同时使用超声波和核磁共振成像(受体运算特征曲线下面积(AUC)为 0.85(95% CI,0.76-0.93))与单独使用超声波(AUC,0.81(95% CI,0.72-0.90);P = 0.19)在预测性能上没有明显差异。与超声和磁共振成像联合模型相比,增加新生儿参数(出生时胎龄和小于胎龄)并没有提高模型性能(AUC,0.87(95% CI,0.80-0.95))(P = 0.22)。超声和核磁共振成像的严重程度评估之间的一致性较差(Cohen's κ,0.19)。大多数差异出现在超声检查认为不严重而核磁共振检查认为严重的病例中,而基于核磁共振检查的预后结果更为一致:结论:对于产前诊断为孤立性LCDH的胎儿,使用标准化超声和磁共振成像测量方法预测死亡率的效果相当好。结论:对于产前诊断为孤立性 LCDH 的胎儿,使用标准化超声和核磁共振成像测量结果预测死亡率的效果相当不错。对于超声分类为非重度的病例,建议使用核磁共振成像,因为它可以提供更准确的预后,并有助于确定胎儿是否适合接受干预。© 2024 作者姓名妇产科超声》由 John Wiley & Sons Ltd 代表国际妇产科超声学会出版。
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引用次数: 0
Biparietal diameter vs crown-rump length as standard parameter for late first-trimester pregnancy dating. 双顶径与冠状脊长度的比较,作为第一胎晚期妊娠测定的标准参数。
IF 6.1 1区 医学 Q1 ACOUSTICS Pub Date : 2024-10-24 DOI: 10.1002/uog.29124
H K Gjessing, P Grøttum, J M Dreier, S H Eik-Nes

Objective: To compare the precision of biparietal diameter (BPD) and crown-rump length (CRL) as predictors of gestational age in the human fetus in the late first and early second trimesters, using a population-based approach.

Methods: We constructed term and gestational-age prediction curves for first-trimester dating, based on 11 041 pregnancies with 12 260 measurements of CRL and/or BPD from a population-based Norwegian clinical database. We used a population-based approach with local linear quantile regression, combined with a time-to-event strategy that compensates for induced births. Term prediction precision was assessed by estimating and comparing the prediction residual curves using a time-to-event analysis. Individual differences in gestational-age predictions from CRL and BPD were assessed using measurements performed on the same fetus on the same day. A sensitivity analysis was performed to evaluate the effect of not distinguishing between non-spontaneous and spontaneous births.

Results: CRL and BPD provided almost identical term prediction precision judged from the residual distribution. In about 51% of examinations, the difference in predicted gestational age was 1 day or less; 24% of examinations had a difference of 2 days, 14% had a difference of 3 days, 7% had a difference of 4 days and only 5% of all examinations had a difference of 5 days or more. Incorrectly removing induced births from the analysis, or treating them as spontaneous, would cause a substantial systematic prediction bias of about 2 days.

Conclusions: Based on population data, using comparisons at an individual level, our study found that BPD is as precise as CRL when used for first-trimester dating. BPD has advantages from a clinical point of view, since it is technically less challenging and less time-consuming to measure compared with CRL, and can be measured and assessed throughout the entire pregnancy. © 2024 The Author(s). Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.

目的比较双顶径(BPD)和冠臀长(CRL)作为人类胎儿在妊娠前三个月晚期和后三个月早期的孕龄预测指标的精确性:我们根据挪威人口临床数据库中 11 041 例妊娠和 12 260 次 CRL 和/或 BPD 测量结果,构建了第一孕期的足月和胎龄预测曲线。我们采用了基于人群的局部线性量化回归方法,并结合补偿引产的时间到事件策略。通过时间到事件分析来估计和比较预测残差曲线,从而评估了预产期预测精度。通过对同一天的同一胎儿进行测量,评估了 CRL 和 BPD 预测胎龄的个体差异。进行了一项敏感性分析,以评估不区分非自然分娩和自然分娩的影响:结果:从残差分布来看,CRL 和 BPD 提供了几乎相同的足月预测精度。在约 51% 的检查中,预测胎龄的差异为 1 天或更小;24% 的检查差异为 2 天,14% 的检查差异为 3 天,7% 的检查差异为 4 天,只有 5% 的检查差异为 5 天或更多。如果不正确地将引产从分析中剔除,或将其视为自然分娩,则会造成约 2 天的严重系统性预测偏差:我们的研究基于人口数据,通过个体水平的比较发现,BPD 与 CRL 在用于第一胎测算时同样精确。从临床角度来看,BPD 具有优势,因为与 CRL 相比,BPD 的测量技术难度更低,耗时更少,而且可以在整个孕期进行测量和评估。© 2024 作者。妇产科超声》由 John Wiley & Sons Ltd 代表国际妇产科超声学会出版。
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引用次数: 0
Near-miss criteria for stillbirth in global research: the 'In Utero' consensus. 全球研究中的死胎近似标准:"子宫内 "共识。
IF 6.1 1区 医学 Q1 ACOUSTICS Pub Date : 2024-10-10 DOI: 10.1002/uog.29120
S J Gordijn, A T Papageorghiou, A L David, S Ali, W Ganzevoort
{"title":"Near-miss criteria for stillbirth in global research: the 'In Utero' consensus.","authors":"S J Gordijn, A T Papageorghiou, A L David, S Ali, W Ganzevoort","doi":"10.1002/uog.29120","DOIUrl":"https://doi.org/10.1002/uog.29120","url":null,"abstract":"","PeriodicalId":23454,"journal":{"name":"Ultrasound in Obstetrics & Gynecology","volume":null,"pages":null},"PeriodicalIF":6.1,"publicationDate":"2024-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142475890","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"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
Assessment of interindividual follicular size variation at ovulation in natural-cycle frozen embryo transfer. 评估自然周期冷冻胚胎移植排卵时个体间卵泡大小的变化。
IF 6.1 1区 医学 Q1 ACOUSTICS Pub Date : 2024-10-10 DOI: 10.1002/uog.29123
J Edades, E Kalafat, B Ata, R Del Gallego, H Fatemi, B Lawrenz
{"title":"Assessment of interindividual follicular size variation at ovulation in natural-cycle frozen embryo transfer.","authors":"J Edades, E Kalafat, B Ata, R Del Gallego, H Fatemi, B Lawrenz","doi":"10.1002/uog.29123","DOIUrl":"https://doi.org/10.1002/uog.29123","url":null,"abstract":"","PeriodicalId":23454,"journal":{"name":"Ultrasound in Obstetrics & Gynecology","volume":null,"pages":null},"PeriodicalIF":6.1,"publicationDate":"2024-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142401459","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"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
Growing teratoma syndrome after treatment of ovarian immature teratoma: ultrasound images of a very rare condition. 卵巢未成熟畸胎瘤治疗后的畸胎瘤生长综合征:一种非常罕见病症的超声波图像。
IF 6.1 1区 医学 Q1 ACOUSTICS Pub Date : 2024-10-03 DOI: 10.1002/uog.29113
L Hovsepyan, A Stepanyan, A Saradyan, N Asilbekyan, L Valentin
{"title":"Growing teratoma syndrome after treatment of ovarian immature teratoma: ultrasound images of a very rare condition.","authors":"L Hovsepyan, A Stepanyan, A Saradyan, N Asilbekyan, L Valentin","doi":"10.1002/uog.29113","DOIUrl":"https://doi.org/10.1002/uog.29113","url":null,"abstract":"","PeriodicalId":23454,"journal":{"name":"Ultrasound in Obstetrics & Gynecology","volume":null,"pages":null},"PeriodicalIF":6.1,"publicationDate":"2024-10-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142372994","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"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
Trustworthiness criteria for meta-analyses of randomized controlled studies: OBGYN journal guidelines. 随机对照研究荟萃分析的可信度标准:妇产科杂志指南》。
IF 6.1 1区 医学 Q1 ACOUSTICS Pub Date : 2024-10-02 DOI: 10.1002/uog.29118
{"title":"Trustworthiness criteria for meta-analyses of randomized controlled studies: OBGYN journal guidelines.","authors":"","doi":"10.1002/uog.29118","DOIUrl":"https://doi.org/10.1002/uog.29118","url":null,"abstract":"","PeriodicalId":23454,"journal":{"name":"Ultrasound in Obstetrics & Gynecology","volume":null,"pages":null},"PeriodicalIF":6.1,"publicationDate":"2024-10-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142362087","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"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
MoMo pregnancies, Mo problems: monochorionic monoamniotic triplet pregnancy with conjoined twins. MoMo妊娠 Mo问题:臭名昭著的复杂单绒毛膜单羊膜多胎妊娠。
IF 6.1 1区 医学 Q1 ACOUSTICS Pub Date : 2024-10-01 Epub Date: 2024-08-19 DOI: 10.1002/uog.27628
L Forbes, J L Miller, A A Baschat, C Kanaan, J Gevaerd Martins
{"title":"MoMo pregnancies, Mo problems: monochorionic monoamniotic triplet pregnancy with conjoined twins.","authors":"L Forbes, J L Miller, A A Baschat, C Kanaan, J Gevaerd Martins","doi":"10.1002/uog.27628","DOIUrl":"10.1002/uog.27628","url":null,"abstract":"","PeriodicalId":23454,"journal":{"name":"Ultrasound in Obstetrics & Gynecology","volume":null,"pages":null},"PeriodicalIF":6.1,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139991289","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"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
Combined first-trimester screening and invasive diagnostics for atypical chromosomal aberrations: Danish nationwide study of prenatal profiles and detection compared with NIPT. 针对非典型染色体畸变的第一胎筛查和侵入性诊断相结合:丹麦全国产前概况和检测数据与 NIPT 的比较。
IF 6.1 1区 医学 Q1 ACOUSTICS Pub Date : 2024-10-01 Epub Date: 2024-09-04 DOI: 10.1002/uog.27667
K Gadsbøll, I Vogel, S E Kristensen, L H Pedersen, J Hyett, O B Petersen
<p><strong>Objectives: </strong>Our aim was to examine the prenatal profiles of pregnancies affected by an atypical chromosomal aberration, focusing on pathogenic copy-number variants (pCNVs). We also wanted to quantify the performance of combined first-trimester screening (cFTS) and a second-trimester anomaly scan in detecting these aberrations. Finally, we aimed to estimate the consequences of a policy of using non-invasive prenatal testing (NIPT) rather than invasive testing with chromosomal microarray analysis (CMA) to manage pregnancies identified as high risk by cFTS.</p><p><strong>Methods: </strong>This was a retrospective review of the Danish Fetal Medicine Database of all pregnant women who underwent cFTS and a risk assessment for trisomy 21 between 1 January 2008 and 31 December 2018. Chromosomal aberrations diagnosed prenatally, postnatally or from fetal tissue following pregnancy loss or termination of pregnancy were identified. Chromosomal aberrations were grouped into one of six categories: triploidy; common trisomy (13, 18 or 21); monosomy X; other sex-chromosome aberration (SCA); pCNV; and rare autosomal trisomy (RAT) or mosaicism. The prevalence of each aberration category was stratified by the individual cFTS markers and trisomy 21 risk estimate, and the size of each pCNV diagnosed by CMA was calculated.</p><p><strong>Results: </strong>We retrieved data on 565 708 pregnancies, of which 3982 (0.70%) were diagnosed with a fetal chromosomal aberration. cFTS identified 87% of the common trisomies, but it also performed well in identifying triploidies (86%), monosomy X (92%), atypical SCAs (58%) and RATs or mosaicisms (70%). pCNVs comprised 27% (n = 1091) of the chromosomal aberrations diagnosed overall, and the prevalence increased during the study period, as prenatal CMA was increasingly being performed. In pregnancies with a maternal age < 30 years, nuchal translucency (NT) thickness ≤ 95<sup>th</sup> centile, pregnancy-associated plasma protein-A (PAPP-A) ≥ 1 multiple of the median, or trisomy 21 risk of ≤ 1 in 1000, the prevalence of pCNVs exceeded significantly the prevalence of trisomies 21, 18 and 13. Pregnancies affected by a pCNV had significantly increased NT and decreased levels of the maternal biomarkers PAPP-A and β-human chorionic gonadotropin compared with unaffected pregnancies. However, only 23% of these pregnancies screened positive on cFTS and 51% of pCNVs were not detected until after birth. Among high-risk pregnancies, pCNVs comprised 14% of diagnosed aberrations, and when other atypical aberrations were considered, conventional NIPT (screening for trisomies 21, 18 and 13 and monosomy X) would miss 27% of all pathogenic aberrations diagnosed from invasive testing following a high-risk cFTS result. Thus, 1 in 26 pregnancies at high risk following cFTS would be affected by a chromosomal aberration despite a normal result from conventional NIPT. In a contingent screening model using NIPT for the 'intermediate'-risk
目的研究受非典型染色体畸变影响的孕妇的产前特征,重点是致病性拷贝数变异(pCNVs)。此外,我们还想量化第一胎联合筛查(cFTS)和第二胎异常扫描在检测这些情况方面的性能。最后,我们希望估算出使用无创产前检测(NIPT)而非染色体微阵列(CMA)侵入性检测来管理 cFTS 确定为高风险妊娠的政策所产生的后果:对丹麦胎儿医学数据库进行回顾性审查,确定了2008年1月1日至2018年12月31日期间所有进行过cFTS和21三体风险评估的孕妇。确定了产前、产后或妊娠失败或终止妊娠(TOP)后从胎儿组织中诊断出的染色体畸变。染色体畸变分为六类:1)三倍体;2)常见三体(21、18 和 13 三体);3)单体 X;4)其他性染色体畸变(SCA);5)pCNV;6)罕见常染色体三体(RAT)和马赛克。每种畸变类别的患病率都根据单个 cFTS 标记和风险估计值进行了分层,并计算了从 CMA 诊断出的每种 pCNV 的大小:cFTS 在识别三倍体(86%)、单体 X(92%)、非典型 SCA(58%)、RAT 和马赛克(70%)方面表现良好。在诊断出的染色体畸变中,pCNV 占 28%(n=1,091),在研究期间,随着产前染色体微阵列分析的增加,pCNV 的发生率也在增加。在母体年龄th百分位数、PAPP-A MoM≥1或21三体风险≥1/1000的孕妇中,pCNV的患病率明显超过21、18和13三体的患病率。与未受影响的孕妇相比,受 pCNV 影响的孕妇颈部透明层厚度(NT)明显增加,母体生物标志物妊娠相关血浆蛋白-A(PAPP-A)和β-人绒毛膜促性腺激素(β-hCG)减少。然而,这些孕妇中只有 23% 在 cFTS 筛查中呈阳性,51% 在出生后才被发现。在诊断出染色体畸变的高危妊娠中,pCNV 占 14%,如果考虑到其他非典型畸变,传统的 NIPT(筛查 21、18 和 13 三体及 X 单体)将会漏掉高危 cFTS 结果后诊断出的所有致病性畸变中的 28%。因此,尽管常规 NIPT 结果正常,但每 26 例 cFTS 高风险妊娠中就有 1 例会受到染色体畸变的影响。在为 "中等 "风险组(T21 风险为 1/100-300)提供 NIPT 的应急筛查模型中,50% 的畸变将被漏检。在我们的队列中,80% 诊断出的 pCNV 都是结论:作为 21、18 和 13 三体筛查的副产品,大多数三倍体和大多数非典型 SCA、RAT 和马赛克在出生前就能被检测出来。然而,只有 23% 的 pCNV 是 cFTS 的高风险,而且只有一半能在出生前确诊。用 NIPT 取代对高危妊娠的侵入性检测,将大大降低致病性染色体异常的首胎检测率。本文受版权保护。保留所有权利。
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引用次数: 0
Pearl in a shell: peculiar case of fetal ovarian cyst. 贝壳中的珍珠:一例特殊的胎儿卵巢囊肿。
IF 6.1 1区 医学 Q1 ACOUSTICS Pub Date : 2024-10-01 Epub Date: 2024-09-04 DOI: 10.1002/uog.27645
E Montaguti, B Petrachi, A Youssef, G Pilu
{"title":"Pearl in a shell: peculiar case of fetal ovarian cyst.","authors":"E Montaguti, B Petrachi, A Youssef, G Pilu","doi":"10.1002/uog.27645","DOIUrl":"10.1002/uog.27645","url":null,"abstract":"","PeriodicalId":23454,"journal":{"name":"Ultrasound in Obstetrics & Gynecology","volume":null,"pages":null},"PeriodicalIF":6.1,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140288997","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"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
期刊
Ultrasound in Obstetrics & Gynecology
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