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1.
Orphanet J Rare Dis ; 19(1): 60, 2024 Feb 12.
Artigo em Inglês | MEDLINE | ID: mdl-38347519

RESUMO

BACKGROUND: The European Reference Network for rare Inherited Congenital Anomalies, ERNICA, guidelines for gastroschisis cover perinatal period to help teams to improve care. METHOD: A systematic literature search including 136 publications was conducted. Research findings were assessed following the GRADE methodology. The evidence to decision framework was used to determine the strength and direction of recommendations. RESULTS: The mode or timing of delivery do not impact neonatal mortality, risk of NEC or time on parenteral nutrition (PN). Intra or extra abdominal bowel dilatation predict complex gastroschisis and longer length of hospital stay but not increased perinatal mortality. Outcomes after Bianchi procedure and primary fascia closure under anesthesia are similar. Sutureless closure decreases the rate of surgical site infections and duration of ventilation compared to surgical closure. Silo-staged closure with or without intubation results in similar outcomes. Outcomes of complex gastroschisis (CG) undergoing early or delayed surgical repair are similar. Early enteral feeds starting within 14 days is associated with lower risk of surgical site infection. RECOMMENDATIONS: The panel suggests vaginal birth between 37 and 39 w in cases of uncomplicated gastroschisis. Bianchi's approach is an option in simple gastroschisis. Sutureless closure is suggested when general anesthesia can be avoided, sutured closure. If anesthesia is required. Silo treatment without ventilation and general anesthesia can be considered. In CG with atresia primary intestinal repair can be attempted if the condition of patient and intestine allows. Enteral feeds for simple gastroschisis should start within 14 days.


Assuntos
Gastrosquise , Recém-Nascido , Gravidez , Feminino , Humanos , Gastrosquise/genética , Gastrosquise/cirurgia , Gastrosquise/complicações , Resultado do Tratamento , Estudos Retrospectivos
2.
Fetal Diagn Ther ; 48(10): 746-756, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34775388

RESUMO

OBJECTIVE: The aim of the study was to assess the diagnostic yield of 2 different next-generation sequencing (NGS) approaches: gene panel and "solo" clinical exome sequencing (solo-CES), in fetuses with structural anomalies and normal chromosomal microarray analysis (CMA), in the absence of a known familial mutation. METHODOLOGY: Gene panels encompassing from 2 to 140 genes, were applied mainly in persistent nuchal fold/fetal hydrops and in large hyperechogenic kidneys. Solo-CES, which entails sequencing the fetus alone and only interpreting the Online Mendelian Inheritance in Man genes, was performed in multisystem or recurrent structural anomalies. RESULTS: During the study period (2015-2020), 153 NGS studies were performed in 148 structurally abnormal fetuses with a normal CMA. The overall diagnostic yield accounted for 35% (53/153) of samples and 36% (53/148) of the fetuses. Diagnostic yield with the gene panels was 31% (15/49), similar to 37% (38/104) in solo-CES. CONCLUSIONS: A monogenic disease was established as the underlying cause in 35% of selected fetal structural anomalies by gene panels and solo-CES.


Assuntos
Exoma , Ultrassonografia Pré-Natal , Feminino , Feto , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Gravidez , Primeiro Trimestre da Gravidez
3.
Acta Obstet Gynecol Scand ; 100(11): 2029-2035, 2021 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-34472083

RESUMO

INTRODUCTION: Our objective was to evaluate the perinatal outcome of selective termination of dichorionic twin pregnancies with discordant anomalies, according to gestational age at time of procedure. MATERIAL AND METHODS: Retrospective review of 147 dichorionic twin pregnancies referred to our Fetal Medicine Unit between 2003 and 2018 for selective termination. Gestational age at delivery, fetal loss, and overall and 28-day post-delivery survival rates, were evaluated according to gestational age at time of procedure. Selective termination procedure was defined as early, intermediate, and late when performed before 18 weeks, between 18 and 23 weeks, and after 23 weeks, respectively. Kruskal-Wallis and chi-squared test were used to compare groups. RESULTS: Overall survival at 28 days post-delivery, pregnancy loss, and preterm delivery before 32 weeks of gestation rates were 93.4%, 6.9%, and 15.5%, respectively. When stratified by gestational age at procedure, intermediate selective termination was associated with a lower survival rate than early and late procedures (86% vs. 96.9% and 100%, respectively; p = 0.035), and a nonsignificant trend for higher pregnancy loss (12% vs. 3.1%). Preterm delivery before 32 weeks of gestation occurred in 27% of late procedures, which was significantly higher than in early (9.5%) and intermediate (18.2%) procedures. CONCLUSIONS: Selective termination in dichorionic twin pregnancies with discordant fetal anomaly is associated with low pregnancy loss and preterm delivery rate, primarily when performed before 18 weeks. When legally possible, late procedures can be a good alternative, particularly in those cases diagnosed beyond the 18th week of gestation.


Assuntos
Anormalidades Congênitas , Resultado da Gravidez , Redução de Gravidez Multifetal , Aborto Espontâneo , Adulto , Feminino , Idade Gestacional , Humanos , Recém-Nascido , Gravidez , Gravidez de Gêmeos , Nascimento Prematuro , Estudos Retrospectivos , Gêmeos Dizigóticos
4.
Clin Genet ; 98(4): 379-383, 2020 10.
Artigo em Inglês | MEDLINE | ID: mdl-32632923

RESUMO

Chromosomal microarray analysis (CMA) has now replaced karyotyping in the analysis of prenatal cases with a fetal structural anomaly, whereas in those pregnancies undergoing invasive prenatal diagnosis with a normal fetal ultrasound, conventional karyotyping is still performed. The aims of this study were to establish the diagnostic yield of CMA in prenatal diagnosis, and to provide new data that might contribute to reconsider current practices. We reviewed 2905 prenatal samples with a normal rapid aneuploidy detection test referred for evaluation by CMA testing. Our study revealed pathogenic and reported susceptibility copy number variants associated with syndromic disorders in 4.8% (n = 138/2905) of cases, being 2.8% (n = 81/2905) the estimated added diagnostic value of CMA over karyotyping. Clinically significant CMA abnormality was detected in 5.4% (107/1975) of the fetuses with ultrasound anomalies and in 1.4% (5/345) of those considered as low-risk pregnancies. Our series shows that in prenatal samples, CMA increases 2-fold the diagnostic yield achieved by conventional karyotyping.


Assuntos
Cromossomos/genética , Doenças Genéticas Inatas/genética , Testes Genéticos , Diagnóstico Pré-Natal , Aneuploidia , Variações do Número de Cópias de DNA/genética , Feminino , Doenças Genéticas Inatas/diagnóstico , Doenças Genéticas Inatas/patologia , Humanos , Análise em Microsséries/tendências , Gravidez , Síndrome
5.
Front Genet ; 11: 561720, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33519888

RESUMO

Objective: To explore the use of a new molecular work-up based on the stepwise use of Quantitative Fluorescence PCR (QF-PCR) extended to eight chromosomes and single nucleotide polymorphism array (SNP-array) in chorionic villi obtained by chorionic villi sampling (CVS) offered to women experiencing an early pregnancy loss. Methods: During a 3-year period (January 2016-December 2018), CVS was offered to women experiencing an early pregnancy loss before the evacuation of the products of conception (POC) to retrieve chorionic villi, irrespective of the number of previous losses. A new molecular work-up was prospectively assayed encompassing a first QF-PCR round (with the 21, 18, 13, 7, X, and Y chromosomes), a second QF-PCR round (with the 15, 16, and 22 chromosomes), and a high resolution SNP-array in those cases with normal QF-PCR results. A control group in which POC were collected after surgical uterine evacuation was used to be compared with the intervention group. Results: Around 459 women were enrolled in the intervention group (CVS) and 185 in the control group (POC after uterine evacuation). The QF-PCR testing success rates were significantly higher in the intervention group (98.5%: 452/459) as compared to the control group (74%: 109/147; p < 0.001), while the chromosomal anomaly rate at the two QF-PCR rounds was similar between the two groups: 52% (234/452) in the intervention and 42% (46/109) in the control group (p = 0.073). The SNP-array was performed in 202 QF-PCR normal samples of the intervention group and revealed 67 (33%) atypical chromosomal anomalies (>10 Mb), 5 (2.5%) submicroscopic pathogenic copy number variants, and 2 (1%) variant of uncertain significance (VOUS). Conclusion: Eighty-two percent of women experiencing an early pregnancy loss opted for a CVS. The testing success rates were higher in the intervention group (CVS; 98%) as compared to the control group (POC; 74%). The overall yields were 52% by QF-PCR (including three complete hydatiform moles), and 16% by SNP-array, including 15% atypical chromosomal anomalies and 1.1% submicroscopic pathogenic copy number variants.

6.
Am J Obstet Gynecol ; 217(2): 196.e1-196.e14, 2017 08.
Artigo em Inglês | MEDLINE | ID: mdl-28342715

RESUMO

BACKGROUND: Prediction of neonatal respiratory morbidity may be useful to plan delivery in complicated pregnancies. The limited predictive performance of the current diagnostic tests together with the risks of an invasive procedure restricts the use of fetal lung maturity assessment. OBJECTIVE: The objective of the study was to evaluate the performance of quantitative ultrasound texture analysis of the fetal lung (quantusFLM) to predict neonatal respiratory morbidity in preterm and early-term (<39.0 weeks) deliveries. STUDY DESIGN: This was a prospective multicenter study conducted in 20 centers worldwide. Fetal lung ultrasound images were obtained at 25.0-38.6 weeks of gestation within 48 hours of delivery, stored in Digital Imaging and Communication in Medicine format, and analyzed with quantusFLM. Physicians were blinded to the analysis. At delivery, perinatal outcomes and the occurrence of neonatal respiratory morbidity, defined as either respiratory distress syndrome or transient tachypnea of the newborn, were registered. The performance of the ultrasound texture analysis test to predict neonatal respiratory morbidity was evaluated. RESULTS: A total of 883 images were collected, but 17.3% were discarded because of poor image quality or exclusion criteria, leaving 730 observations for the final analysis. The prevalence of neonatal respiratory morbidity was 13.8% (101 of 730). The quantusFLM predicted neonatal respiratory morbidity with a sensitivity, specificity, positive and negative predictive values of 74.3% (75 of 101), 88.6% (557 of 629), 51.0% (75 of 147), and 95.5% (557 of 583), respectively. Accuracy was 86.5% (632 of 730) and positive and negative likelihood ratios were 6.5 and 0.3, respectively. CONCLUSION: The quantusFLM predicted neonatal respiratory morbidity with an accuracy similar to that previously reported for other tests with the advantage of being a noninvasive technique.


Assuntos
Pulmão/diagnóstico por imagem , Pulmão/embriologia , Síndrome do Desconforto Respiratório do Recém-Nascido/epidemiologia , Taquipneia/epidemiologia , Ultrassonografia Pré-Natal , Adulto , Feminino , Humanos , Recém-Nascido , Pulmão/patologia , Masculino , Morbidade , Valor Preditivo dos Testes , Gravidez , Estudos Prospectivos
7.
Prenat Diagn ; 37(3): 229-234, 2017 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-28006080

RESUMO

OBJECTIVE: Audit the crown-rump length (CRL) measurements taken at 11 to 13 weeks scan, using operator-specific median multiples of the median (MoM) for pregnancy-associated plasma protein-A (PAPP-A) and free ß-human chorionic gonadotropin (ß-hCG) plots, to identify deviations potentially related to a systematic CRL bias. METHODS: Study population included consecutive singleton pregnancies undergoing first trimester combined screening, scanned by sonologists with at least 100 scans, during the 2011 to 2012 period. Previously described plots for PAPP-A and ß-hCG median MoM points, with their 95% confidence intervals circles, in relation with the expected deviation line were used. These plots have been modified to adjust the deviation line to the sonologist-specific expected MoM variation for each CRL millimetre bias according to each sonologist-specific median gestational ages at both blood sampling and ultrasound. RESULTS: Twenty-eight sonologists performing 9472 scans were included, accounting for 36% of the 77 sonologists and 70% of the 13 643 scans initially considered. Mean gestational age was 10 + 2 weeks at blood sampling and 12 + 4 weeks at ultrasound. Fifteen sonologists (53%) did not demonstrate any CRL bias, 10 (36%) present with a significant CRL underestimation, being above 2 mm in 6 (21%), and in 3 (11%) the observed deviation could not be explained by a systematic CRL bias. CONCLUSIONS: In sonologists with more than 100 NT measurements, operator-specific PAPP-A and ß-hCG median MoM plots are able to identify deviations potentially related to a systematic CRL bias. Systematic underestimation above 2 mm was observed in 1/5 of them. © 2016 John Wiley & Sons, Ltd.


Assuntos
Biomarcadores/sangue , Gonadotropina Coriônica Humana Subunidade beta/sangue , Estatura Cabeça-Cóccix , Gráficos de Crescimento , Proteína Plasmática A Associada à Gravidez/análise , Adulto , Auditoria Clínica , Feminino , Idade Gestacional , Humanos , Gravidez , Primeiro Trimestre da Gravidez/sangue , Diagnóstico Pré-Natal/métodos , Diagnóstico Pré-Natal/normas
8.
J Matern Fetal Neonatal Med ; 30(13): 1613-1615, 2017 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-27623225

RESUMO

A new maternal age-dependent method to estimate absolute excess risks of trisomy 21, either after a previous trisomy 21 (homotrisomy) or after another trisomy (heterotrisomy), is proposed to be added to the estimated risk by conventional screening methods. Excess risk at term for a subsequent trisomy 21 was calculated from midtrimester risks reported by Morris et al., decreasing from 0.49% at 20 years to 0.01% at 46 years at the index pregnancy. Excess risk after a previous uncommon trisomy was derived from data reported by Warburton et al., decreasing from 0.37% at 20 years to 0.01% at 50 years.


Assuntos
Síndrome de Down/diagnóstico , Idade Materna , Diagnóstico Pré-Natal/métodos , Adulto , DNA/sangue , Feminino , Humanos , Pessoa de Meia-Idade , Gravidez , Gravidez de Alto Risco , Recidiva , Sistema de Registros , Medição de Risco , Adulto Jovem
9.
Fetal Diagn Ther ; 42(3): 174-180, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-27802431

RESUMO

BACKGROUND: Little information is available about the risk of microdeletion and microduplication syndromes in fetal growth restriction (FGR) with a normal karyotype. OBJECTIVE: To assess the incremental yield of genomic microarray over conventional karyotyping in fetuses with early growth restriction. STUDY DESIGN: Genomic microarray was prospectively performed in fetuses with early growth restriction defined as a fetal weight below the 3rd percentile estimated before 32 weeks of pregnancy, and a normal quantitative fluorescent polymerase chain reaction result. The incremental yield of genomic microarray was defined by the rate of fetuses presenting with a pathogenic copy number variant below 10 Mb. RESULTS: Among 133 fetuses with early FGR, a 6.8% (95% CI: 2.5-11.0) incremental yield of genomic microarray over karyotyping was observed. This incremental yield was 4.8% (95% CI: 0.2-9.3) in isolated FGR, 10% (95% CI: 0-20.7) in FGR with nonstructural anomalies, and 10.5% (95% CI: 0-24.3) in FGR with structural anomalies. CONCLUSION: Our multicenter study reveals that 6.8% of fetuses with early growth restriction present with submicroscopic anomalies after common aneuploidies were excluded. Even when FGR is observed as an isolated finding, genomic microarray analysis should be considered after or instead of karyotyping, due to its 4.8% incremental yield.


Assuntos
Retardo do Crescimento Fetal/genética , Aberrações Cromossômicas , Feminino , Desenvolvimento Fetal/genética , Genômica , Humanos , Análise de Sequência com Séries de Oligonucleotídeos , Gravidez , Resultado da Gravidez
10.
Reprod Biomed Online ; 33(4): 500-505, 2016 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-27496530

RESUMO

The aim of this study was to assess the performance of first-trimester combined screening when replacing the chronological maternal age by Anti-Müllerian hormone (AMH) and antral follicle count (AFC)-derived ovarian ages, as the background risk in trisomy risk estimation. A total of 639 pregnant women who completed first-trimester combined screening together with AMH and AFC determination were included. Trisomy risks were estimated based on three distinct 'maternal ages' as a-priori risk (chronological age, AMH- and AFC-derived ovarian age). The screening performance was assessed using three different approaches: received operator curve; detection rate and false positive rates for a fixed 1/250 threshold; and detection rates for a fixed 3% false positive rate. A non-significant trend was shown for AMH-derived age for both an increased area under the curve (0.986 versus 0.979) and an increased detection rate (from 83% to 100%) for a 1/250 risk threshold. For a 3% false-positive rate, a non-significant trend for increased detection with the use of both AMH- and AFC-derived ovarian ages was observed (from 67% to 83%). These results indicate that, although ovarian derived ages seem to potentially reflect a more precise background risk for fetal trisomies, the improvement in screening performance is only residual.


Assuntos
Aneuploidia , Hormônio Antimülleriano/sangue , Folículo Ovariano/diagnóstico por imagem , Reserva Ovariana , Diagnóstico Pré-Natal , Trissomia/diagnóstico , Adolescente , Adulto , Feminino , Humanos , Idade Materna , Pessoa de Meia-Idade , Gravidez , Primeiro Trimestre da Gravidez , Risco , Trissomia/genética , Adulto Jovem
11.
Gynecol Obstet Invest ; 80(2): 99-105, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-25924544

RESUMO

AIM: The potential of uterine artery (UA) Doppler pulsatility index (PI) and maternal serum placental growth factor (PlGF) level to predict perinatal outcome was explored in pregnancies complicated by intrauterine fetal growth restriction (IUGR) or preeclampsia (PE). METHODS: This longitudinal, prospective, and case-controlled study was conducted over a period of 24 months. At-risk pregnancies involving small-for-gestational-age (SGA) fetuses, IUGR, gestational hypertension (GH), or PE were investigated, analyzing UA Doppler PI findings and maternal PlGF levels determined at the time of diagnosis (third trimester). RESULTS: UA Doppler PI and maternal serum PlGF values differed significantly in pregnancies complicated by IUGR and/or PE (vs. SGA or GH, p < 0.01). In the context of IUGR or PE, both parameters also differed significantly by perinatal outcome (adverse vs. normal, p < 0.01), although no predictive advantage over UA Doppler PI alone was conferred by adding a PlGF assay. CONCLUSION: UA Doppler PI and maternal serum PlGF determinations in the third trimester help identify pregnancies at the highest risk of adverse perinatal outcomes due to IUGR and/or PE. Although joint testing confers no predictive benefit over UA Doppler PI alone, the two diagnostics are interchangeable for this purpose.


Assuntos
Retardo do Crescimento Fetal/sangue , Retardo do Crescimento Fetal/diagnóstico por imagem , Pré-Eclâmpsia/sangue , Pré-Eclâmpsia/diagnóstico por imagem , Resultado da Gravidez , Proteínas da Gravidez/sangue , Artéria Uterina/diagnóstico por imagem , Adulto , Estudos de Casos e Controles , Feminino , Humanos , Fator de Crescimento Placentário , Gravidez , Terceiro Trimestre da Gravidez , Fluxo Pulsátil , Ultrassonografia Doppler , Ultrassonografia Pré-Natal
12.
J Ultrasound Med ; 33(4): 673-9, 2014 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-24658947

RESUMO

OBJECTIVES: To compare cervical volumes and vascularization indices using 3-dimensional power Doppler sonography among singleton pregnancies with threatened preterm labor and an asymptomatic short cervix. METHODS: Three hundred asymptomatic healthy pregnant women between 24 and 34.6 gestational weeks were prospectively scanned for cervical length. If cervical length was short, defined as below the 10th percentile for gestational age, the cervical volume and vascularization indices (vascularization index [VI], vascularization-flow index [VFI], and flow index [FI]) were measured. Women receiving any treatment for preterm delivery prevention were excluded. During this period, the same sonographic parameters were measured among patients with threatened preterm labor admitted to our institution during the first 24 hours after admission. Multiple pregnancies and fetal or maternal pathologic conditions, were exclusion criteria. Data on body mass index, maternal age, smoking, parity, family history of preterm birth, mother who was born preterm, and previous preterm birth among the pregnant women were recorded. Sonographic and medical history parameters were compared between the two groups. RESULTS: Twenty-nine asymptomatic healthy women (9.6%) had a short cervix. Additionally, 71 pregnancies with threatened preterm labor were scanned. There were no statistically significant differences between the groups in medical history parameters or cervical length. The cervical volume was smaller in threatened preterm cases (12.90 versus 17.168 cm(3); P = .005). The VI and VFI were lower in women with an asymptomatic short cervix (VI, 4.369% versus 15.939%; P < .001; VFI, 1.514 versus 4.878; P < .001). The FI was higher in the short cervix group (33.581 versus 30.311; P = .006). CONCLUSIONS: Three-dimensional transvaginal sonography reveals differences in cervical volume and vascularization indices between pregnancies with an asymptomatic short cervix and cases with threatened preterm labor, although cervical length is similar in both groups.


Assuntos
Medida do Comprimento Cervical/métodos , Colo do Útero/diagnóstico por imagem , Interpretação de Imagem Assistida por Computador/métodos , Imageamento Tridimensional/métodos , Trabalho de Parto Prematuro/diagnóstico por imagem , Ultrassonografia Doppler/métodos , Ultrassonografia Pré-Natal/métodos , Adulto , Algoritmos , Diagnóstico Diferencial , Feminino , Humanos , Aumento da Imagem/métodos , Gravidez , Reprodutibilidade dos Testes , Sensibilidade e Especificidade , Adulto Jovem
13.
Hypertension ; 63(2): 346-52, 2014 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-24166751

RESUMO

To establish gestational phase adapted cutoffs for the use of the soluble fms-like tyrosine kinase-1 (sFlt-1)/placental growth factor (PlGF) ratio as a diagnostic tool for preeclampsia in the clinical setting, a multicenter case-control study including a total of 1149 patients was performed. We report normal values of sFlt-1, PlGF, and the sFlt-1/PlGF ratio based on the analysis of a total of 877 patients with uneventful pregnancy outcome. A total of 234 patients with preeclampsia and a matched cohort consisting of 468 patients with normal pregnancy outcome were compared, and sFlt-1 and PlGF were measured on an automated platform. Separate cutoffs for the sFlt-1/PlGF ratio were determined for the early (20+0-33+6 weeks) and the late gestational phase (34+0 weeks-delivery). For each of the 2 gestational phases, 2 independent cutoffs framing an equivocal zone were determined: the first cutoff with focus on high sensitivity, and the second focusing on high specificity. Between 20+0 and 33+6 weeks, the cutoffs at ≤33 and ≥85 resulted in a sensitivity/specificity of 95%/94% and 88%/99.5%, respectively. An sFlt-1/PlGF ratio of ≤33 had the lowest likelihood of a negative test (0.05; 95% confidence interval, 0.02-0.13), whereas values ≥85 had the highest likelihood of a positive test (176; 95% confidence interval, 24.88-1245). After 34+0 weeks, the cutoffs at ≤33 and ≥110 yielded a sensitivity/specificity of 89.6%/73.1% and 58.2%/95.5%, respectively. The approach to use multiple cutoffs for the early and late gestational phase enhances the diagnostic accuracy of the sFlt-1/PlGF ratio as a diagnostic tool for preeclampsia.


Assuntos
Química Clínica/normas , Proteínas de Membrana/sangue , Pré-Eclâmpsia/sangue , Pré-Eclâmpsia/diagnóstico , Receptor 1 de Fatores de Crescimento do Endotélio Vascular/sangue , Biomarcadores/sangue , Estudos de Casos e Controles , Química Clínica/métodos , Feminino , Idade Gestacional , Humanos , Recém-Nascido , Gravidez , Resultado da Gravidez , Valores de Referência , Reprodutibilidade dos Testes , Sensibilidade e Especificidade , Solubilidade
14.
Prenat Diagn ; 33(4): 384-90, 2013 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-23494871

RESUMO

OBJECTIVE: This study aimed to evaluate the application of two quality assurance methods to the ductus venosus pulsatility index (DVPI), as a first-trimester aneuploidy marker, including retrospective assessment of distribution parameters and cumulative sum (CUSUM) plots. METHODS: The DVPI was measured in 14 444 singleton fetuses at 11+0 to 13+6 weeks in two Fetal Medicine centers during a 4-year period. Sonologist-specific quality assurance distribution parameters, previously described for nuchal translucency, were assessed: the median multiples of the median (MoM), the logarithmic standard deviation of DVPI MoMs and the weekly DVPI percent decrease. Quality assurance results were compared between median MoMs and MoM-based CUSUM plots. RESULTS: When sonologist-specific DVPI distribution parameters were retrospectively applied for quality assurance, a 1.0 median MoM, a 0.1 median logarithmic standard deviation and a 3.4 median weekly DVPI drop percentage were observed. CUSUM plots showed good agreement with 0.9-1.1 MoMs range for median MoM, in the assessment of sonologist-specific performances. CONCLUSION: Retrospective and prospective DVPI quality assurance methods appear to be applicable to DVPI at 11+0 to 13+6 weeks. Its use should be encouraged if DVPI is to be added to first-trimester Down syndrome or cardiac defects screening.


Assuntos
Aneuploidia , Transtornos Cromossômicos/diagnóstico por imagem , Feto/fisiologia , Ultrassonografia Pré-Natal/normas , Feminino , Feto/irrigação sanguínea , Humanos , Programas de Rastreamento , Gravidez , Primeiro Trimestre da Gravidez , Fluxo Pulsátil , Garantia da Qualidade dos Cuidados de Saúde , Estudos Retrospectivos
15.
Fetal Diagn Ther ; 32(4): 271-6, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-22869462

RESUMO

OBJECTIVE: To update the reference ranges for the ductus venosus pulsatility index (DVPI) at 11+0 to 13+6 gestational weeks. METHODS: DVPI was calculated in 14,444 singleton fetuses at 11+0 to 13+6 weeks in two Fetal Medicine Centers, during a 4-year period. Using previously described medians, DVPI evolution was assessed both over the study period on a yearly basis and over gestation, grouping fetuses according to 5-mm crown-rump length (CRL) ranges. Weighted DVPI medians, the 5th and 95th percentiles and distribution parameters for unaffected and trisomy 21 fetuses were newly calculated. RESULTS: A significant DVPI multiple of the median decrease was observed over both the study period (p < 0.01) and over gestation (p < 0.01) using previous medians, in the two centers. Newly calculated weighted medians were lower than those previously described, decreasing with CRL. Distribution parameters calculated using the new medians were different from those previously described. CONCLUSION: DVPI reference ranges were lower than those previously reported and decreased with CRL. Updated medians and distribution parameters should be considered to include the DVPI as a Gaussian marker in trisomy 21 screening and for quality control purposes.


Assuntos
Veia Porta/fisiologia , Circulação Renal , Adulto , Biomarcadores , Estatura Cabeça-Cóccix , Síndrome de Down/diagnóstico por imagem , Síndrome de Down/embriologia , Síndrome de Down/fisiopatologia , Feminino , Desenvolvimento Fetal , Humanos , Distribuição Normal , Veia Porta/diagnóstico por imagem , Veia Porta/embriologia , Veia Porta/fisiopatologia , Gravidez , Primeiro Trimestre da Gravidez , Fluxo Pulsátil , Valores de Referência , Espanha , Ultrassonografia Pré-Natal
16.
Acta Obstet Gynecol Scand ; 90(9): 1043-5, 2011 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-21564030

RESUMO

We determined the effect of cord blood collection before placental expulsion on postpartum maternal blood loss in a retrospective study between a group of cord blood donors and a group of non-donors. The study was conducted in a university hospital blood bank and obstetric services and included Spanish women entered in a European study project (EUPHRATES) and who had consented to donate cord blood for public banking purposes. We measured blood volume lost during delivery by a bag collection method, as well as the need for transfusion and postpartum anemia symptoms. Deliveries at which cord blood was collected presented a significant increase in blood loss (321 ± 273 vs. 255 ± 237 ml, p=0.02). Instrumental deliveries were associated with higher postpartum blood loss than spontaneous deliveries. Cord blood collection can increase intrapartum blood loss, especially at instrumental deliveries. Additional staff who handle the collection are required to allow the leading clinician to focus on maternal care.


Assuntos
Bancos de Sangue , Sangue Fetal , Placenta/irrigação sanguínea , Hemorragia Pós-Parto , Parto Obstétrico , Feminino , Humanos , Gravidez , Estudos Retrospectivos
17.
Menopause ; 12(5): 601-8, 2005.
Artigo em Inglês | MEDLINE | ID: mdl-16145314

RESUMO

OBJECTIVE: The influence of hormone therapy on the induction or the promotion of breast cancer has yet to be determined. Recent studies establish a cause-effect relation between hormones and cancer, although epidemiological data and studies of tumor behavior give rise to doubts. The aim of the study was to observe and evaluate the influence of different hormonal environments on the induction of breast cancer in a well-established experimental model. DESIGN: In this experimental animal study, breast cancer was induced by using a single intragastric dose of 20 mg of dimethylbenzanthracene in prepubertal Sprague-Dawley rats randomized into five groups: group 1 (control); group 2 (castrated prepubertal animals); and groups 3, 4, and 5 (castration of prepubertal animals followed by hormonal treatment starting at puberty [11 weeks] with tibolone, raloxifene, and estradiol, respectively). Follicle-stimulating hormone and estradiol levels were measured at 6, 11, 16, and 31 weeks. RESULTS: Absence of ovarian activity was observed in groups 2, 3, 4, and 5, as well as the expected variations in hormone levels in all groups. Breast cancers were obtained in 100% of the animals in the control group, with an average of four (two to seven) tumors per animal in this group. Only one cancer appeared in groups 2, 3, and 4, and none appeared in group 5. CONCLUSIONS: In this experimental model and using the hormone treatments chosen, neither the treatments nor the absence of ovarian activity induced breast cancer.


Assuntos
Neoplasias da Mama/induzido quimicamente , Estradiol/farmacologia , Moduladores de Receptor Estrogênico/farmacologia , Norpregnenos/farmacologia , Ovário/efeitos dos fármacos , Cloridrato de Raloxifeno/farmacologia , 9,10-Dimetil-1,2-benzantraceno/farmacologia , Animais , Carcinógenos/farmacologia , Estradiol/sangue , Feminino , Hormônio Foliculoestimulante/sangue , Modelos Animais , Ovariectomia , Ratos , Ratos Sprague-Dawley
18.
Eur J Obstet Gynecol Reprod Biol ; 120(1): 27-32, 2005 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-15866082

RESUMO

OBJECTIVE: To determine the relation between weight deficit at birth and IGF-I, IGFBP-I, Leptin, and AFP levels in amniotic fluid after 14-18 weeks; to assess the diagnostic usefulness of these biochemical markers. STUDY DESIGN: Longitudinal, prospective study. Amniocentesis was performed in pregnant women after 14-18 weeks of gestation. STUDY POPULATION: 86 controls, 18 IUGR <10 percentile, and 17 IUGR <5 percentile. RESULTS: No significant correlation was found between severity of IUGR and IGF-I, IGFBP-I, or Leptin. AFP was inversely correlated with severity of IUGR; results for the IUGR <10 percentile were: S: 65.7%, SP: 56.9%, PPV: 38.3%, NPV: 80.3%, and an overall diagnostic capacity of 65.6%. Results for the IUGR <5 percentile were: S: 76.4%, SP: 54.8%, PPV: 21.6%, NPV: 93.4% were obtained, and an overall capacity of 70.6%. CONCLUSIONS: Elevated values of AFP in amniotic fluid may help early detection of populations at risk of developing IUGR.


Assuntos
Amniocentese , Biomarcadores/análise , Retardo do Crescimento Fetal/diagnóstico , Fator de Crescimento Insulin-Like I/análise , Leptina/análise , alfa-Fetoproteínas/análise , Líquido Amniótico/química , Idade Gestacional , Proteína 1 de Ligação a Fator de Crescimento Semelhante à Insulina/análise , Estudos Longitudinais , Estudos Prospectivos , Sensibilidade e Especificidade
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