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1.
Medicine (Baltimore) ; 98(38): e17200, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31567968

RESUMO

The universal two-child policy has now been fully implemented in China. This change requires adaptations to maternal care and childcare systems, but the features of prenatal diagnosis before and after implementation of the policy have not been reported.We conducted a retrospective study of 6736 prenatal cytogenetic diagnoses performed on amniotic fluid cells over a 4-year period, including 2 years before and after implementation of the second child policy. Amniotic fluid cells collected through amniocentesis were cultured, harvested, and stained for chromosome analysis using standard laboratory protocols.The study included 3222 pregnant women referred before implementation of the policy, which we used as a control group, and 3514 pregnant women referred after policy implementation as an investigational study group. There were significantly fewer pregnant women aged <25 years in the investigational group than in the control group (P < .001). There were no significant between-group differences for other pregnant women aged >31 years and 27-28 years old (P > .05). A total of 358 cases with chromosomal abnormalities were diagnosed, including 129 (4%, 129/3222) in the control group which was significantly lower than the 229 (6.5%, 229/3514) in the study group (P < .001). In particular, significantly more trisomy 21 cases were observed in the study group than in the control group (120 vs 59). More pregnant women underwent non-invasive prenatal testing (NIPT) in the study group (46%) than in the control group (20%). In the study group, the average age of pregnant women who underwent NIPT was significantly higher than that of women who did not receive NIPT (P < .05). However, there were no significant between-group differences for the control group (P > .05).The number of cases with chromosomal abnormalities increased in northeastern China in the 2 years after implementation of the two-child policy. The number of pregnant women of advanced maternal age did not increase significantly, perhaps because of the widespread application of NIPT. However, the number of fetuses with Down syndrome increased significantly, suggesting that prenatal screening and diagnosis should be strengthened.


Assuntos
Controle da População , Diagnóstico Pré-Natal/estatística & dados numéricos , Política Pública , Adulto , Fatores Etários , Amniocentese/estatística & dados numéricos , China , Aberrações Cromossômicas , Feminino , Humanos , Controle da População/estatística & dados numéricos , Gravidez , Estudos Retrospectivos , Adulto Jovem
2.
Taiwan J Obstet Gynecol ; 58(1): 139-144, 2019 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-30638468

RESUMO

OBJECTIVE: This study retrospectively evaluated the incidences of small supernumerary marker chromosomes (sSMCs) in prenatal diagnoses and detected with gain of pathogenic copy number variation through array comparative genomic hybridization (CGH) in a laboratory in Taiwan. MATERIALS AND METHODS: We retrospectively searched and reviewed the sSMC cases detected during prenatal diagnoses in the Youthgene medical laboratory, between 2004 and 2015 and used array CGH to successfully analyze 45 of 47,XN,+mar or 47,XN + mar/46,XN. RESULTS: A total of 68,087 cases of amniocentesis were analyzed, of which 59 were identified as sSMCs. The overall frequency of sSMCs was 0.087%, and 7 of 45 sSMCs were identified with gain of pathogenic copy number variation (CNV). CONCLUSION: Array CGH offers useful tools that can be used to detect small fragments of chromosomal abnormalities and sSMC origins in prenatal diagnosis. In this study, we successfully used array CGH to detect 7 out of 45 sSMCs, which were identified with gain in pathogenic CNV.


Assuntos
Aberrações Cromossômicas/estatística & dados numéricos , Transtornos Cromossômicos/diagnóstico , Hibridização Genômica Comparativa , Variações do Número de Cópias de DNA , Amniocentese/estatística & dados numéricos , Feminino , Marcadores Genéticos , Humanos , Gravidez , Estudos Retrospectivos
3.
Ultrasound Obstet Gynecol ; 53(4): 503-511, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-29877030

RESUMO

OBJECTIVE: To assess trends in ultrasound-indicated prenatal diagnostic testing performed over the past two decades in the Australian state of Victoria, in the context of rapidly changing practices in aneuploidy screening and chromosome analysis. METHODS: This was a retrospective analysis of all ultrasound-indicated prenatal diagnostic testing (amniocentesis and chorionic villus sampling) performed in the state of Victoria between 1994 and 2016. Ultrasound indications for testing included: fetal structural abnormality, fetal death, fetal growth restriction, abnormal amniotic fluid volume, genetic 'soft marker' and unspecified ultrasound abnormality. Maternal age, indication for testing, type of diagnostic procedure, gestational age, type of chromosome analysis (G-banded karyotyping or chromosomal microarray (CMA)) and test results were obtained. Diagnostic yield (i.e. percentage of tests yielding a major abnormality) was analyzed by year, maternal age and gestational age. Statistical analysis was performed using the χ2 tests for trend or difference in proportions, as appropriate. RESULTS: During the 23-year study period, 1 533 317 births were recorded and 16 152 diagnostic procedures were performed for the primary indication of ultrasound abnormality. In recent years, ultrasound abnormality became the most common indication for prenatal invasive testing (29.4% of diagnostic tests between 2013 and 2016) due to a steep decline in testing for other indications such as positive result on combined first-trimester screening or advanced maternal age alone. In 2016, over 95% of ultrasound-indicated procedures were performed with CMA; among these, pathogenic copy number variant (CNV) was the most common (3.5%) abnormality detected, followed by trisomy 21 (2.8%). The diagnostic yield of ultrasound-indicated tests performed < 16 weeks was significantly higher than that of tests performed after 20 weeks (31.5% vs 9.0%). CONCLUSIONS: Ultrasound-indicated invasive testing is contributing to prenatal diagnosis in new ways in the genomic era. A pathogenic CNV is now the most likely diagnosis after ultrasound-indicated testing, rather than trisomy 21 or other whole-chromosome aneuploidy. Despite steady improvements in first-trimester screening for aneuploidy, the diagnostic yield of ultrasound-indicated tests > 20 weeks has remained stable due to increased utilization of CMA. Procedures performed for structural abnormalities < 16 weeks continue to have the highest diagnostic yield, supporting the benefits of early fetal structural assessment at 11-13 weeks. Copyright © 2018 ISUOG. Published by John Wiley & Sons Ltd.


Assuntos
Amniocentese/estatística & dados numéricos , Amostra da Vilosidade Coriônica/estatística & dados numéricos , Ultrassonografia Pré-Natal/estatística & dados numéricos , Adulto , Aneuploidia , Ácidos Nucleicos Livres , Variações do Número de Cópias de DNA , Síndrome de Down/diagnóstico , Feminino , Humanos , Idade Materna , Vigilância da População , Gravidez , Estudos Retrospectivos , Vitória
4.
J Matern Fetal Neonatal Med ; 32(14): 2287-2294, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-29357727

RESUMO

OBJECTIVE: Hypoxia inducible factor 1α (HIF1α) has been reported to activate inflammatory cascade. Recently, exosomes have been known to have pivotal roles in intercellular communication. The aim of this study was to compare the concentration of amniotic fluid (AF) HIF1α, exosomal HIF1α, and inflammatory cytokines such as interleukin 1α (IL1α), interleukin 1ß (IL1ß), interleukin 6 (IL6), and tumor necrosis factor α (TNFα) between physical examination-indicated cerclage (PEIC) and control group. We also investigated the associations between biomarkers and amniocentesis-to-delivery interval and the correlations of inflammatory cytokines, HIF1α, and exosomal HIF1α. METHODS: Case-control study was performed. Cases are defined as 16 patients who underwent PEIC and controls are 19 women who underwent amniocentesis for confirming chromosomal abnormalities. The concentration of IL1α, IL1ß, IL6, TNFα, HIF1α, and exosomal HIF1α were measured using enzyme-linked immunosorbent assay (ELISA). Exosomes were confirmed by tumor susceptibility Gene 101 (TSG 101) and transmission electron microscopy (TEM). RESULTS: The mean HIF1α in PEIC group was higher than control group (PEIC, 15.03 ± 9.60-pg/mL versus control, 2.96 ± 1.99 pg/mL; p < .01). There were significant differences in inflammatory cytokines between two groups. A significant difference in exosomal HIF1α was shown between two groups (PEIC, 27.97 ± 28.61-µg/mL versus control, 12.42 ± 8.20 µg/mL; p < .01). HIF1α, IL1α, IL6, TNFα, and exosomal HIF1α showed significantly negative association with cerclage-to-delivery interval. However, IL1ß was not associated with cerclage-to-delivery interval. HIF1α was positively correlated with exosomal HIF1α (rho = 0.93, p < .01). Both HIF1α and exosomal HIF1α were significantly associated with TNFα (rho = 0.94, p < .01; rho = 0.97, p < .01). Both HIF-1α and exosomal HIF1α had positive correlation with IL1α (rho = 0.96, p < .01; rho = 0.91, p < .01). However, IL1ß showed no correlations with HIF1α and exosomal HIF1α. A positive correlation between HIF-1α and IL6 was observed (rho = 0.58, p = .01.) Exosomal HIF1α also had correlation with IL6 (rho = 0.52, p = .03). CONCLUSIONS: This study demonstrated that amniotic fluid (AF) HIF1α and AF exosomal HIF1α were higher in physical examination-indicated cerclage (PEIC) group than control group. AF HIF1α and AF exosomal HIF1α were associated with shorter amniocentesis-to-delivery interval. More importantly, they had positive correlations with AF inflammatory cytokines such as IL1α, IL6, and TNFα. Our results may indicate that AF HIF1α and AF exosomes interact with AF inflammatory cytokines and contribute inflammatory cascade in complicated pregnancies.


Assuntos
Líquido Amniótico/metabolismo , Subunidade alfa do Fator 1 Induzível por Hipóxia/análise , Incompetência do Colo do Útero/metabolismo , Adulto , Amniocentese/estatística & dados numéricos , Estudos de Casos e Controles , Cerclagem Cervical , Ensaio de Imunoadsorção Enzimática , Exossomos/metabolismo , Feminino , Humanos , Recém-Nascido , Interleucina-1beta/análise , Interleucina-6/análise , Gravidez , Nascimento Prematuro , Estudos Retrospectivos , Fator de Necrose Tumoral alfa/análise , Incompetência do Colo do Útero/cirurgia
5.
J Matern Fetal Neonatal Med ; 32(10): 1688-1695, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-29262756

RESUMO

INTRODUCTION: To identify the prevalence and types of fetal chromosomal polymorphisms in pregnant women and to examine possible associations with screening test parameters. MATERIALS AND METHODS: Fetal chromosomal polymorphism rate was investigated in pregnant women who had been implemented for invasive prenatal test in a tertiary reference center in Thrace Region of Turkey. Fetal chromosomal polymorphisms were determined and their effects on screening tests' parameters were investigated. Possible differences in the first and second-trimester screening test parameters between women; with fetal chromosomal polymorphism who had screening test results (Group 1) and those with a normal karyotype (Group 2) were evaluated. RESULTS: Fetal chromosomal polymorphism prevalence was 5.3% (n = 101). The most common polymorphisms were identified on chromosome 9, 1, and 16 [54.5% (n = 55); 8.9% (n = 9), and 6.9% (n = 7), respectively]. The most common polymorphic variant was 9qh+ (n = 23; 22.8%). Among the screening test parameters, significantly lower pregnancy-associated plasma protein-A (PAPP-A) (p = .028) and higher unconjugated estriol (uE3) (p = .019) values were found in Group 1. In patients having fetuses with polymorphic variants on chromosome 9, a significantly lower PAPP-A values were observed compared to women with other fetal polymorphic variants (p = .048) or women having fetuses with normal karyotype (p = .007). CONCLUSIONS: Lower PAPP-A and higher uE3 levels were observed in women having fetuses with chromosomal polymorphisms, which might affect screening test results. Lower PAPP-A levels were apparent in women having fetuses with polymorphism on chromosome 9.


Assuntos
Gonadotropina Coriônica Humana Subunidade beta/sangue , Cromossomos Humanos Par 9/genética , Proteína Plasmática A Associada à Gravidez/análise , Adulto , Amniocentese/estatística & dados numéricos , Biomarcadores/sangue , Estudos de Casos e Controles , Amostra da Vilosidade Coriônica/estatística & dados numéricos , Estriol/sangue , Feminino , Sangue Fetal , Humanos , Cariotipagem , Polimorfismo Genético , Gravidez , Estudos Retrospectivos , Adulto Jovem
6.
J Matern Fetal Neonatal Med ; 32(10): 1703-1720, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-29226760

RESUMO

INTRODUCTION: A bioassay based on the detection of beta-glucan, a constituent of the cell wall of fungi, has been successfully used to diagnose fungal infections in a variety of biological fluids but not yet in the amniotic fluid. OBJECTIVE: To determine the diagnostic performance of a beta-glucan bioassay in the detection of Candida species in the amniotic fluid of women who either did or did not have an intrauterine contraceptive device (IUD) in place during an episode of spontaneous preterm parturition. METHODS: The study population comprised women who had a singleton pregnancy without congenital or chromosomal abnormalities, who experienced preterm labor or preterm prelabor rupture of the fetal membranes, and who underwent a transabdominal amniocentesis for clinical indications. Samples of amniotic fluid were cultured for aerobic and anaerobic bacteria, genital mycoplasmas, and Candida species, and assayed for beta-glucan, using the (1→3)-beta-d-glucan-specific Limulus amebocyte lysate test (beta-glucan assay) in all cases. Amniotic fluid interleukin (IL)-6 assay results were also available for all cases. The beta-glucan assay takes about 1 hour to run: a concentration >80 pg/mL was considered positive for fungi. Sterile intra-amniotic inflammation of the amniotic cavity was defined by the presence of an amniotic fluid IL-6 concentration ≥2.6 ng/mL and a negative amniotic fluid culture. RESULTS: (1) One hundred ninety-seven (197) women met the study criteria, of whom 58 (29.4%) had an IUD in place; (2) 20 (10.2%) women had a culture of proven intra-amniotic Candida species-related infection, 19 of whom had a positive beta-glucan assay [sensitivity, 95% (19/20; 95% confidence interval (CI): 75.1-99.9%)]; and (3) the specificity of the beta-glucan assay was 75.1% [133/177; 95% CI: 68.1-99.9%]. It was affected by the presence of nonfungal intra-amniotic infections and an IUD, but not by the presence of sterile intra-amniotic inflammation, and there was a significant interaction between the presence of an IUD and nonfungal intra-amniotic infections (estimated for the interaction effect = 2.1923, p value =.026). The assay's specificity was reduced when nonfungal intra-amniotic infections were diagnosed but only in women who did not have an IUD. Among women without an IUD, the assay's specificity was 91.4% (117/128); it was 93% (106/114) for those without intra-amniotic infection, and 78.6% (11/14) for those with a nonfungal intra-amniotic infection; the difference was not significant (p = .09). Among women with an IUD, the assay's specificity was 32.7% (16/49); 42.9% (9/21) for those with a nonfungal intra-amniotic infection; and 25% (7/28) for those without intra-amniotic infection; and the difference was significant (p = .03). CONCLUSIONS: The beta-glucan assay is a sensitive, rapid, point-of-care test used to diagnose intra-amniotic Candida species-related infection, and it has a high specificity in pregnant women who did not have an IUD in place.


Assuntos
Candidíase/epidemiologia , Ruptura Prematura de Membranas Fetais/epidemiologia , Complicações Infecciosas na Gravidez/epidemiologia , beta-Glucanas/análise , Adulto , Amniocentese/estatística & dados numéricos , Líquido Amniótico/microbiologia , Candida/isolamento & purificação , Estudos de Casos e Controles , Feminino , Idade Gestacional , Humanos , Dispositivos Intrauterinos/efeitos adversos , Valor Preditivo dos Testes , Gravidez , Ultrassonografia Pré-Natal , Adulto Jovem
7.
Ultrasound Obstet Gynecol ; 53(5): 676-685, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-30155922

RESUMO

OBJECTIVE: Traditionally, amniocentesis is performed between 17 and 23 weeks of gestation. This enables decisions regarding the course of pregnancy to be made before viability. Less frequently, amniocentesis is performed in the third trimester. Advanced genomic technologies such as chromosomal microarray analysis (CMA) provide more detailed information about the fetus compared with traditional G-banded chromosomal analysis. The aim of this study was to assess the indications for and safety of late amniocentesis, genetic-test results (especially in the context of CMA technology) and outcome of pregnancies that underwent the procedure after 24 weeks. METHODS: Medical records were analyzed retrospectively of all women in whom amniocentesis was performed at a gestational age of 24 + 0 to 38 + 6 weeks, at Hadassah Medical Center, between June 2013 and March 2017. Parameters investigated included indications for late amniocentesis, complications, CMA results and pregnancy outcome. RESULTS: During the study period, 291 women (303 fetuses, 277 singleton and 14 twin pregnancies; in two twin pairs, one fetus was terminated before amniocentesis) underwent late amniocentesis. CMA was performed in all instances of amniocentesis. The most frequent indication was abnormal sonographic finding(s) (204/303 fetuses, 67%). Preterm delivery occurred in 1.7% and 5.1% of pregnancies within the first week and within 1 month following the procedure, respectively. Aneuploidy was detected in nine (3%) fetuses and nine (3%) others had a pathogenic/likely pathogenic copy number variant, suggesting that CMA doubled the diagnostic yield of traditional karyotyping. Maximal diagnostic yield (17.5%) was achieved for the subgroup of fetuses referred with abnormal sonographic findings in two or more fetal anatomical systems. Variants of uncertain significance or susceptibility loci were found in another nine (3%) fetuses. CONCLUSIONS: In pregnancies undergoing late amniocentesis, CMA increased detection rates of fetal abnormalities and had a shorter turnaround time compared with traditional chromosomal analysis; therefore, late amniocentesis may serve as a helpful tool for detecting fetal abnormalities or reassuring parents following late-appearing abnormal sonographic findings. However, CMA may expose findings of uncertain significance, about which the couple should be precounseled. The procedure appears to be safe. Copyright © 2018 ISUOG. Published by John Wiley & Sons Ltd.


Assuntos
Amniocentese/estatística & dados numéricos , Anormalidades Congênitas/diagnóstico , Análise em Microsséries/estatística & dados numéricos , Fatores de Tempo , Adulto , Amniocentese/métodos , Anormalidades Congênitas/embriologia , Feminino , Idade Gestacional , Humanos , Análise em Microsséries/métodos , Gravidez , Terceiro Trimestre da Gravidez , Reprodutibilidade dos Testes , Estudos Retrospectivos
8.
J Pregnancy ; 2018: 9718316, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30151283

RESUMO

Aim: To show the importance of prenatal diagnosis of Duchenne Muscular Dystrophy (DMD) and to demonstrate the effect of DMD gene mutations on gestational outcomes. Materials and Methods: We retrospectively evaluated 89 pregnancies in 81 individuals who were referred to Hacettepe University for prenatal diagnosis of DMD between January 2000 and December 2015. Prenatal diagnostic methods (chorionic villus sampling (CVS): 66, amniocentesis (AC): 23) were compared for test results, demographic features, and obstetric outcomes of pregnancies. The female fetuses were divided into two groups according to the DMD status (healthy or carrier) to understand the effect of DMD gene mutations on obstetric outcomes. Results: Eight prenatally diagnosed disease-positive fetuses were terminated. There was no statistically significant difference between the CVS and AC groups in terms of study variables. There were 46 male fetuses (51.6%) and 43 female fetuses (48.4%). Fifteen of the female fetuses were carriers (34.8%). Median birthweight values were statistically insignificantly lower in the carrier group. Conclusion: Pregnancies at risk for DMD should be prenatally tested to prevent the effect of disease on families and DMD carrier fetuses had obstetric outcomes similar to DMD negative female fetuses.


Assuntos
Amniocentese/estatística & dados numéricos , Amostra da Vilosidade Coriônica/estatística & dados numéricos , Heterozigoto , Distrofia Muscular de Duchenne/diagnóstico , Adulto , Feminino , Triagem de Portadores Genéticos/métodos , Humanos , Masculino , Distrofia Muscular de Duchenne/genética , Mutação/genética , Gravidez , Resultado da Gravidez/genética , Estudos Retrospectivos
9.
Taiwan J Obstet Gynecol ; 57(3): 370-373, 2018 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-29880167

RESUMO

OBJECTIVE: To present the calculated frequencies, male to female sex-ratio, and modes of ascertainments in different levels of chromosomal mosaicism (CM) detected at amniocentesis. MATERIALS AND METHODS: This's a 10-years retrospective study between January 2008 and December 2017 and there were 13,752 cases of amniocentesis performed in MacKay Memorial Hospital, Taipei, Taiwan. Eight hundred and thirty four cases of CM were collected in this study. We reviewed their types of chromosomal abnormalities of mosaicism, the modes of ascertainment (including: advanced maternal age, abnormal ultrasound findings, abnormal maternal serum screening result, and other reasons), maternal age, gestational age at amniocentesis, fetal gender, and perinatal findings. After amniocentesis, in situ culture was performed and the results of karyotype with CM were divided in to three levels. RESULTS: In our sample of 13,752 amniocentesis, 834 cases with all levels of CM were collected in this study. Of them, there were 562 cases (4.09%) with level I mosaicism, 207 cases (1.51%) of level II mosaicism, and 65 cases (0.47%) of level III mosaicism (Table 1). In the group of advanced of maternal age (AMA), their calculated frequencies, 4.18% in level I, 1.46% in level II and 0.41% in level III, were very similar to those in total cases (p value = 0.206) without statistical significance. In the group of abnormal ultrasound findings, the calculated frequency was much higher in level III (0.87%), however, there was no statistical significance because of the small numbers of level III. In our cases of amniocentesis, the case numbers of male case (50.20%) is very similar to female (49.80%), and the male to female ratio was 1.01. But, we found more cases of male with CM (444 cases) than female (390 cases). The sex-ratio in different levels' calculated frequencies of CM showed similar in level I, and male prevalence was found in level II and III with statistical significance (p value = 0.022). The male prevalence also revealed in both numerical and structural abnormalities in level II and level III, but no difference in the cases of level I. CONCLUSION: In conclusion, our observation showed a novel finding of higher male prevalence of CM in level II and III, and both in numerical and structural abnormalities. It's consistent with the theory of better survival in male embryo after partial self-correction of initial chromosomal aberrations, male-specific selection against chromosomal abnormalities.


Assuntos
Amniocentese/estatística & dados numéricos , Mosaicismo/estatística & dados numéricos , Distribuição por Sexo , Feminino , Humanos , Masculino , Idade Materna , Mosaicismo/classificação , Gravidez , Estudos Retrospectivos , Ultrassonografia Pré-Natal/estatística & dados numéricos
10.
BMC Pregnancy Childbirth ; 18(1): 146, 2018 May 09.
Artigo em Inglês | MEDLINE | ID: mdl-29743041

RESUMO

BACKGROUND: We investigated whether various inflammatory and immune proteins in plasma predict intra-amniotic infection and imminent preterm delivery in women with preterm labor and compared their predictive ability with that of amniotic fluid (AF) interleukin (IL)-6 and serum C-reactive protein (CRP). METHODS: This retrospective cohort study included 173 consecutive women with preterm labor who underwent amniocentesis for diagnosis of infection and/or inflammation in the AF. The AF was cultured, and assayed for IL-6. CRP levels and cervical length by transvaginal ultrasound were measured at the time of amniocentesis. The stored maternal plasma was assayed for IL-6, matrix metalloproteinase (MMP)-9, and complements C3a and C5a using ELISA kits. The primary and secondary outcome criteria were positive AF cultures and spontaneous preterm delivery (SPTD) within 48 h, respectively. Univariate, multivariate, and receiver operating characteristic analysis were used for the statistical analysis. RESULTS: In bivariate analyses, elevated plasma IL-6 level was significantly associated with intra-amniotic infection and imminent preterm delivery, whereas elevated plasma levels of MMP-9, C3a, and C5a were not associated with these two outcomes. On multivariate analyses, an elevated plasma IL-6 level was significantly associated with intra-amniotic infection and imminent preterm delivery after adjusting for confounders, including high serum CRP levels and short cervical length. In predicting intra-amniotic infection, the area under the curve (AUC) was significantly lower for plasma IL-6 than for AF IL-6 but was similar to that for serum CRP. Differences in the AUCs between plasma IL-6, AF IL-6, and serum CRP were not statistically significant in predicting imminent preterm delivery. CONCLUSIONS: Maternal plasma IL-6 independently predicts intra-amniotic infection in women with preterm labor; however, it has worse diagnostic performance than that of AF IL-6 and similar performance to that of serum CRP. To predict imminent preterm delivery, plasma IL-6 had an overall diagnostic performance similar to that of AF IL-6 and serum CRP. Plasma MMP-9, C3a, and C5a levels could not predict intra-amniotic infection or imminent preterm delivery.


Assuntos
Amniocentese/estatística & dados numéricos , Corioamnionite/imunologia , Trabalho de Parto Prematuro/imunologia , Complicações Infecciosas na Gravidez/imunologia , Nascimento Prematuro/imunologia , Adulto , Líquido Amniótico/imunologia , Líquido Amniótico/microbiologia , Proteína C-Reativa/análise , Medida do Comprimento Cervical , Corioamnionite/sangue , Corioamnionite/microbiologia , Complemento C3a/análise , Complemento C5a/análise , Feminino , Idade Gestacional , Humanos , Interleucina-6/análise , Interleucina-6/sangue , Testes para Triagem do Soro Materno , Metaloproteinase 9 da Matriz/sangue , Análise Multivariada , Trabalho de Parto Prematuro/microbiologia , Valor Preditivo dos Testes , Gravidez , Complicações Infecciosas na Gravidez/sangue , Complicações Infecciosas na Gravidez/microbiologia , Nascimento Prematuro/microbiologia , Curva ROC , Estudos Retrospectivos
11.
J Obstet Gynaecol ; 38(7): 906-910, 2018 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-29553859

RESUMO

This is a retrospective analysis of the patient demographics and cytogenetic results of patients who underwent prenatal invasive testing for genetic analysis at the Foetal Medicine Division of the Department of Obstetrics and Gynecology, Sri Ramachandra Medical College and Research Institute. The main objective of this study was to characterise the changing trends in indications of pregnant women for foetal karyotyping in a 7-year period. A total of 257 procedures were performed in this period, and there was a significant change in the trend of indications for invasive prenatal diagnosis from an advanced maternal age in 2009 to a positive screen test by 2014. Chromosome abnormalities were observed in 9.8% of the cases, with trisomy 21 being the most frequent finding. The findings demonstrate the changing trends in screening and diagnostic testing in the tertiary care centre, with an acceptance of the first and second trimester maternal serum screening tests as a determinant for high-risk pregnancies. Impact statement What is already known on this subject? Despite the fact that India has one of the world's highest birth rates, there is still no public health care policy for the application of cytogenetic prenatal diagnosis. Nevertheless, we have been offering this test in our university teaching hospital since 2008, allowing us to characterise the changing trends in indications of pregnant women who sought invasive diagnostic procedures for foetal genetic studies. What do the results of this study add? The results of our study show that there were major changes in the common indications for prenatal diagnosis during the study period. In 2009, the main indication was an advanced maternal age, referred to in 31% of the cases, which declined steadily to 5% by 2014. In 2014, 51% of cases opted for a prenatal diagnosis because of a first trimester screen positive result, increasing from 12% in 2009. What are the implications of these findings for clinical practice and/or further research? This data is relevant as it would encourage other tertiary hospitals in developing countries like India to consider extending first trimester screening for all women, regardless of age and educate them on the options of prenatal genetic diagnosis for reassurance.


Assuntos
Amniocentese/estatística & dados numéricos , Amostra da Vilosidade Coriônica/estatística & dados numéricos , Transtornos Cromossômicos/diagnóstico , Cordocentese/estatística & dados numéricos , Adulto , Transtornos Cromossômicos/epidemiologia , Feminino , Idade Gestacional , Hospitais Universitários/estatística & dados numéricos , Humanos , Cariotipagem , Idade Materna , Testes para Triagem do Soro Materno/estatística & dados numéricos , Gravidez , Estudos Retrospectivos , Fatores de Risco
12.
Health Care Women Int ; 39(4): 493-504, 2018 04.
Artigo em Inglês | MEDLINE | ID: mdl-29319434

RESUMO

Our study aimed to identify the knowledge, attitude, and factors associated with uptake of amniocentesis test amongst pregnant women of advanced maternal age (35+ years old). A cross-sectional survey was performed on 481 participants in 2016. Women with higher educational attainment, higher income level, having a baby with congenital defects, and women with better knowledge and/or attitude about amniocentesis test were more likely to accept the test. Our study suggested the importance of counseling for women and more time should be given for them to absorb information before they make their decision to uptake the amniocentesis test.


Assuntos
Amniocentese/estatística & dados numéricos , Tomada de Decisões , Conhecimentos, Atitudes e Prática em Saúde , Idade Materna , Aceitação pelo Paciente de Cuidados de Saúde/psicologia , Gestantes/psicologia , Diagnóstico Pré-Natal , Adulto , Amniocentese/psicologia , Estudos Transversais , Feminino , Humanos , Gravidez , Vietnã
13.
J Obstet Gynaecol Res ; 44(1): 5-12, 2018 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-29114962

RESUMO

We conducted a questionnaire survey on the current obstetric management of preterm labor (PL) and preterm premature rupture of the membranes (pPROM). The questionnaire covered approximately a third of all preterm deliveries and nearly half of the preterm deliveries before 32 gestational weeks. The diagnostic criterion for PL was either painful uterine contractions or cervical dilatation. Tocolytic agents were primarily used as long-term maintenance therapy. Intrauterine infection was clinically diagnosed at most responding institutions. Amniocentesis was performed for PL or pPROM at only a small number (10%) of institutions. Prenatal steroids were administered for PL or pPROM, if indicated, at approximately 40-60% of responding institutions. Prophylactic antibiotics to maintain pregnancy were administered for pPROM at approximately 90% and for PL at approximately 20% of institutions. Maintenance therapy with a tocolytic agent was used for pPROM at approximately 90% of institutions.


Assuntos
Amniocentese/estatística & dados numéricos , Ruptura Prematura de Membranas Fetais/terapia , Ginecologia , Trabalho de Parto Prematuro/terapia , Obstetrícia , Perinatologia , Sociedades Médicas , Tocolíticos/uso terapêutico , Adulto , Feminino , Ginecologia/estatística & dados numéricos , Humanos , Japão , Obstetrícia/estatística & dados numéricos , Perinatologia/estatística & dados numéricos , Gravidez , Estudos Retrospectivos , Sociedades Médicas/estatística & dados numéricos
14.
J Obstet Gynaecol ; 38(1): 38-41, 2018 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-28764586

RESUMO

The aim of this study was to examine the clinical and cytogenetic results of 4761 amniocentesis (AS) cases retrospectively in our clinic in southeast China. The prenatal diagnosis indications, detected chromosomal anomalies and the detection rate of chromosomal abnormalities were studied in 4761 patients who underwent AS between June 2014 and July 2016 retrospectively. Chromosomal abnormality was detected in 137 (2.88%) of the 4761 samples (89.1% numerical, 10.9% structural). The most frequent numerical chromosomal abnormality was trisomy 21 (59.0%). Clinically insignificant polymorphisms were the most frequent structural changes (n = 284). In our study, the frequency and proportion of abnormal karyotypes varied substantially across different maternal AS indications. Impact statement What is already known on this subject: Several studies on amniocentesis indications and results have been reported from China and from other countries. It has been known that the most common indications were the increased risk at maternal serum screenings (MSS) and advanced maternal age (AMA). What the results of this study add: In our study we make a conclusion that the indications and results of AS cases from our centre indicated the significance of genetic screening. What the implications are of these findings for clinical practice and/or further research: Our data could offer informative data for proper prenatal genetic counselling of pregnant women and their partners in Wuxi, China.


Assuntos
Amniocentese/estatística & dados numéricos , Transtornos Cromossômicos/epidemiologia , Adulto , China/epidemiologia , Transtornos Cromossômicos/diagnóstico , Transtornos Cromossômicos/etiologia , Feminino , Humanos , Cariotipagem/métodos , Cariotipagem/estatística & dados numéricos , Idade Materna , Gravidez , Estudos Retrospectivos , Fatores de Risco , Adulto Jovem
15.
Ultrasound Obstet Gynecol ; 51(4): 480-486, 2018 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-28608362

RESUMO

OBJECTIVE: To evaluate the performance of high-resolution chromosomal microarray (CMA) as the standard diagnostic approach for genomic imbalances in pregnancies with increased risk based on combined first-trimester screening (cFTS). METHODS: This was a retrospective study of genomic findings in a cohort of 575 consecutive pregnancies undergoing invasive testing because of a cFTS risk ≥ 1:300 on a publicly funded population-based screening program in the Central and Northern Regions of Denmark, between September 2015 and September 2016. Women with fetal nuchal translucency thickness ≥ 3.5 mm or opting for non-invasive prenatal testing (NIPT) were excluded. Comparative genomic hybridization was performed using a 180-K oligonucleotide array on DNA extracted directly from chorionic villus/amniocentesis samples. Genomic outcomes were reported in relation to cFTS findings. RESULTS: Of the 575 pregnancies that underwent invasive testing, CMA detected 22 (3.8% (95% CI, 2.5-5.7%)) cases of trisomies 21, 18 and 13, 14 (2.4% (95% CI, 1.4-4.0%)) cases of other types of aneuploidy and 15 (2.6% (95% CI, 1.5-4.3%)) cases with a pathogenic or probably pathogenic copy number variant (CNV). Of the 15 CNVs, three were > 10 Mb and would probably have been detected by chromosomal analysis, but the other 12 would most probably not have been detected using conventional cytogenetic techniques; therefore, the overall detection rate of CMA (8.9% (95% CI, 6.8-11.5%)) was significantly higher than that estimated for conventional cytogenetic analysis (6.8% (95% CI, 5.0-9.1%)) (P = 0.0049). Reducing the cFTS risk threshold for invasive diagnostic testing to 1 in 100 or 1 in 50 would have led, respectively, to 60% or 100% of the pathogenic CNVs being missed. CONCLUSIONS: CMA is a valuable diagnostic technique that can identify an increased number of genomic aberrations in pregnancies at increased risk on cFTS. Limiting diagnostic testing to pregnancies with a risk above 1 in 100 or 1 in 50, as proposed in contingent NIPT/invasive testing models, would lead to a significant proportion of pathogenic CNVs being missed at first-trimester screening. Copyright © 2017 ISUOG. Published by John Wiley & Sons Ltd.


Assuntos
Variações do Número de Cópias de DNA/genética , Síndrome de Down/diagnóstico , Síndrome de Down/genética , Análise de Sequência com Séries de Oligonucleotídeos/estatística & dados numéricos , Adulto , Amniocentese/estatística & dados numéricos , Amostra da Vilosidade Coriônica/estatística & dados numéricos , Síndrome de Down/epidemiologia , Feminino , Humanos , Programas de Rastreamento/estatística & dados numéricos , Testes para Triagem do Soro Materno , Pessoa de Meia-Idade , Medição da Translucência Nucal/estatística & dados numéricos , Valor Preditivo dos Testes , Gravidez , Primeiro Trimestre da Gravidez , Estudos Retrospectivos , Medição de Risco , Adulto Jovem
16.
Isr Med Assoc J ; 19(8): 484-488, 2017 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-28825766

RESUMO

BACKGROUND: Cytomegalovirus (CMV) infection during pregnancy is the most common cause of intrauterine infection, and is a common cause of sensorineural hearing loss and mental retardation. OBJECTIVES: To evaluate trends in amniocentesis and pregnancy outcome in women with suspected cytomegalovirus (CMV) infection during the first trimester. METHODS: All blood tests for CMV immunoglobulin M (IgM) done between 2008 and 2009 on pregnant women who were enrolled in the Maccabi Healthcare Services were retrieved from laboratory database. Immunoglobulin G (IgG) avidity was measured and women were classified according to the risk of acquiring CMV infection. For each patient, performance of amniocentesis and whether pregnancy came to term were recorded. RESULTS: Of 109,439 pregnant women evaluated during the study period, 76,712 (70.1%) were tested for CMV IgM, and 792 (1.03%) were found to be positive. Among women with positive IgM, only 205 (25.9%) underwent amniocentesis. When compared with women with negative CMV IgM, the rate of pregnancy cessation was doubled in women with positive CMV IgM (28.3% vs. 14.3%, P < 0.05) and mostly elevated in women with a high risk of acquiring CMV (42.3% pregnancy cessation). Among women with positive CMV IgM, those who did not undergo amniocentesis were more likely to abort than those who performed amniocentesis (35.6% vs. 7.3%, P < 0.05). CONCLUSIONS: More women with suspected CMV infection during the first trimester of pregnancy aborted before all means of detection were utilized to rule out or confirm fetal infection with CMV.


Assuntos
Aborto Eugênico/estatística & dados numéricos , Amniocentese/estatística & dados numéricos , Infecções por Citomegalovirus/diagnóstico , Citomegalovirus/imunologia , Imunoglobulina M/sangue , Complicações Infecciosas na Gravidez/diagnóstico , Primeiro Trimestre da Gravidez/imunologia , Anticorpos Antivirais , Afinidade de Anticorpos , Feminino , Humanos , Imunoglobulina G/imunologia , Imunoglobulina M/imunologia , Gravidez , Complicações Infecciosas na Gravidez/imunologia , Primeiro Trimestre da Gravidez/sangue
19.
J Obstet Gynaecol Res ; 43(7): 1111-1121, 2017 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-28561990

RESUMO

AIM: The aim of this study was to analyze the influence of effective preconceptional testing for carrier status in women at risk for Duchenne and Becker muscular dystrophies (D/BMD) on the prenatal diagnosis. METHODS: A retrospective analysis of 201 prenatal tests was performed in 169 Polish women at risk, in regard to time of testing for carrier status (prior to conception or during pregnancy) and carrier status of tested women, including confirmed D/BMD carriers (n = 78; 46.2%), D/BMD non-carriers - tested for germline mosaicism risk (n = 23; 13.6%), and women at risk with uncertain carrier status (n = 68; 40.2%). RESULTS: Only 52.7% of women were tested for D/BMD carrier status prior to conception and in these women prenatal diagnosis was carried out more frequently in the first trimester of pregnancy (64.7% vs 47.8%; P = 0.035). The results of prenatal testing in male fetuses in pregnancies of confirmed D/BMD carriers and D/BMD non-carriers - tested for germline mosaicism risk were conclusive in all cases, whereas in women with uncertain carrier status, only 60.0% of results were conclusive. Eighty-five of 103 female fetuses (82.5%) were tested prenatally and in 31.8% of them fetal carrier status was confirmed. CONCLUSION: Carrier status testing in women prior to conception has a positive impact on the frequency of first-trimester prenatal diagnosis and known D/BMD carrier status on the effectiveness of prenatal diagnosis. Due to the low percentage of women tested effectively prior to conception, carrier status testing in the families at risk should be propagated (including possibility of prenatal diagnosis of female fetuses).


Assuntos
Amniocentese/estatística & dados numéricos , Amostra da Vilosidade Coriônica/estatística & dados numéricos , Cordocentese/estatística & dados numéricos , Heterozigoto , Distrofia Muscular de Duchenne/diagnóstico , Prevenção Secundária , Adulto , Feminino , Humanos , Masculino , Gravidez , Primeiro Trimestre da Gravidez , Estudos Retrospectivos
20.
Am J Epidemiol ; 186(10): 1204-1208, 2017 Nov 15.
Artigo em Inglês | MEDLINE | ID: mdl-28535192

RESUMO

Chain event graphs (CEGs) are a graphical representation of a statistical model derived from event trees. They have previously been applied to cohort studies but not to case-control studies. In this paper, we apply the CEG framework to a Yorkshire, United Kingdom, case-control study of childhood type 1 diabetes (1993-1994) in order to examine 4 exposure variables associated with the mother, 3 of which are fully observed (her school-leaving-age, amniocenteses during pregnancy, and delivery type) and 1 with missing values (her rhesus factor), while incorporating previous type 1 diabetes knowledge. We conclude that the unknown rhesus factor values were likely to be missing not at random and were mainly rhesus-positive. The mother's school-leaving-age and rhesus factor were not associated with the diabetes status of the child, whereas having at least 1 amniocentesis procedure and, to a lesser extent, birth by cesarean delivery were associated; the combination of both procedures further increased the probability of diabetes. This application of CEGs to case-control data allows for the inclusion of missing data and prior knowledge, while investigating associations in the data. Communication of the analysis with the clinical expert is more straightforward than with traditional modeling, and this approach can be applied retrospectively or when assumptions for traditional analyses are not held.


Assuntos
Amniocentese/estatística & dados numéricos , Cesárea/estatística & dados numéricos , Diabetes Mellitus Tipo 1/etiologia , Idade Materna , Mães/estatística & dados numéricos , Efeitos Tardios da Exposição Pré-Natal , Amniocentese/efeitos adversos , Teorema de Bayes , Estudos de Casos e Controles , Cesárea/efeitos adversos , Criança , Parto Obstétrico/efeitos adversos , Parto Obstétrico/métodos , Parto Obstétrico/estatística & dados numéricos , Escolaridade , Feminino , Humanos , Modelos Logísticos , Modelos Estatísticos , Gravidez , Sistema do Grupo Sanguíneo Rh-Hr/análise , Fatores de Risco , Reino Unido
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