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[PMID]:29179272
[Au] Autor:Cai AJ; Zhu CF; Xue SW; Cui SY; Qu SZ; Liu N; Kong XD
[Ad] Endereço:Genetics and Prenatal Diagnosis Center, the First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China.
[Ti] Título:[Analysis of non-invasive prenatal screening detection in fetal chromosome aneuploidy].
[So] Source:Zhonghua Fu Chan Ke Za Zhi;52(11):765-769, 2017 Nov 25.
[Is] ISSN:0529-567X
[Cp] País de publicação:China
[La] Idioma:chi
[Ab] Resumo:To evaluate the efficacy of non-invasive prenatal screening (NIPS) in the detection of fetal aneuploidies. Cell free DNA was sequenced in 5 566 pregnant women to identify the fetal aneuploidies in the First Affiliated Hospital of Zhengzhou University from January 1(st), 2015 to March 15(th), 2016. Among them, 5 230 (93.96%, 5 230/5 566) were singleton pregnancies and 336 (6.04%, 336/5 566) were twin pregnancies. In singleton pregnancies, 1 809 (34.59%, 1 809/5 230) were women with advanced maternal age, and 3 421 (65.41%, 3 421/5 230) were young women. The positive results of NIPS were validated by karyotyping through invasive procedures and neonatal outcomes were followed up by telephone. Among the 5 566 women, 69 (1.24%, 69/5 566) got positive NIPS results, with 66 in singleton pregnancies and 3 in twin pregnancies. Two were monochorionic diamniotic twins and 1 was dichorionic twin pregnancy. The positive predictive value of NIPS for trisomy 21, 18 and 13 were 100.0%, 90.9% and 100.0%, and was 55.6% for sex chromosome aneuploidies. There was no false negative case found during the follow-up. In the advanced maternal age group and young women group, the prevalence rates of fetal chromosomal aneuploidies were 1.11%(20/1 809) and 0.94%(32/3 421), respectively. In the young women with soft markers in fetal ultrasound, the prevalence of fetal chromosomal aneuploidies was 1.44% (7/487), and in serum high risk women, it was 0.94% (7/747). In women with the serum screening risk with cut-off value, 0.89%(9/1 016) had fetal aneuploidies, and the prevalence was 0.77%(9/1 171) in volunteers. There was no statistically significant difference among these groups ( 0.636). There is no difference in the detection rate of fetal aneuploidies between high-risk women in serum screening and volunteers in NIPS. NIPS is more suitable as a first line screening test for women without fetal ultrasound abnormalities. It should be used carefully when there is ultrasound abnormalities.
[Mh] Termos MeSH primário: Aneuploidia
Testes para Triagem do Soro Materno
Diagnóstico Pré-Natal/métodos
Ultrassonografia Pré-Natal/métodos
[Mh] Termos MeSH secundário: Adulto
Cromossomos Humanos Par 18
Síndrome de Down/diagnóstico
Feminino
Feto
Seres Humanos
Cariotipagem
Idade Materna
Gravidez
Gravidez Múltipla
Gravidez de Gêmeos
Cuidado Pré-Natal
Trissomia/diagnóstico
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180111
[Lr] Data última revisão:
180111
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171128
[St] Status:MEDLINE
[do] DOI:10.3760/cma.j.issn.0529-567X.2017.11.009


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[PMID]:29189693
[Au] Autor:Committee on Practice Bulletins-Obstetrics
[Ti] Título:Practice Bulletin No. 187: Neural Tube Defects.
[So] Source:Obstet Gynecol;130(6):e279-e290, 2017 12.
[Is] ISSN:1873-233X
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Neural tube defects (NTDs) are congenital structural abnormalities of the central nervous system and vertebral column. Neural tube defects may occur as an isolated malformation, in combination with other malformations, as part of a genetic syndrome, or as a result of teratogenic exposure (1). Neural tube defects are the second-most-common major congenital anomaly (2) after cardiac malformations, and their prevalence varies by geographic region, race, and environmental factors (3). Outcomes and disabilities depend on level and extent of lesion; for instance, anencephaly is incompatible with life but most infants with spina bifida will survive after surgical repair (4). Importantly, and in contrast to many other congenital abnormalities, primary prevention of NTDs is possible with folic acid. In addition, prenatal screening and diagnosis are widely available, and fetal surgery has improved outcomes for some newborns. The purpose of this document is to provide information about NTDs and make management recommendations for the pregnancy complicated by a fetal NTD.
[Mh] Termos MeSH primário: Parto Obstétrico/métodos
Terapias Fetais/métodos
Ácido Fólico/uso terapêutico
Testes para Triagem do Soro Materno/métodos
Defeitos do Tubo Neural
Complicações na Gravidez
Ultrassonografia Pré-Natal/métodos
[Mh] Termos MeSH secundário: Sistema Nervoso Central/anormalidades
Sistema Nervoso Central/diagnóstico por imagem
Feminino
Seres Humanos
Recém-Nascido
Masculino
Defeitos do Tubo Neural/diagnóstico
Defeitos do Tubo Neural/terapia
Gravidez
Complicações na Gravidez/diagnóstico
Complicações na Gravidez/terapia
Coluna Vertebral/anormalidades
Coluna Vertebral/diagnóstico por imagem
Estados Unidos
Complexo Vitamínico B/uso terapêutico
alfa-Fetoproteínas/análise
[Pt] Tipo de publicação:JOURNAL ARTICLE; PRACTICE GUIDELINE
[Nm] Nome de substância:
0 (alpha-Fetoproteins); 12001-76-2 (Vitamin B Complex); 935E97BOY8 (Folic Acid)
[Em] Mês de entrada:1712
[Cu] Atualização por classe:171206
[Lr] Data última revisão:
171206
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:171201
[St] Status:MEDLINE
[do] DOI:10.1097/AOG.0000000000002412


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[PMID]:28682865
[Au] Autor:Yu B; Lu BY; Zhang B; Zhang XQ; Chen YP; Zhou Q; Jiang J; Wang HY
[Ad] Endereço:Changzhou Woman and Children Health Hospital Affiliated to Nanjing Medical University, Changzhou, Jiangsu, China.
[Ti] Título:Overall evaluation of the clinical value of prenatal screening for fetal-free DNA in maternal blood.
[So] Source:Medicine (Baltimore);96(27):e7114, 2017 Jul.
[Is] ISSN:1536-5964
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: To explore the clinical value of prenatal screening for fetal-free DNA in maternal blood. METHODS: A total of 10,275 maternal blood samples were collected from October 2012 to May 2016 at the prenatal diagnosis center of Changzhou Woman and Children Health Hospital. RESULTS: Among 10,275 pregnant women accepted noninvasive prenatal testing (NIPT), 9 cases could not get the results after collected the blood second times. The rate of NIPT failure was 0.09%. Seventy-two cases got the NIPT positive results of trisomy 21/trisomy 18/trisomy 13, and the detection rate, specificity, positive predictive value (PPV), and false positive rate were 98.59%, 99.99%, 97.22%, and 0.02%. The top-3 indications of the study were advanced age women (34.90%), high risk (25.22%), and intermediate risk (19.56%). They all had the satisfactory results of NIPT. Fifty-seven pregnant women had the high risk of fetal sex chromosomal aneuploidies (SCA). After informed consent, 33 cases accepted prenatal diagnosis. Eighteen cases were confirmed as sex chromosome aneuploidies. The PPV was 54.54%. Compared with other SCA, the PPV of Turner syndrome was lower. One case was false negative after followed up. CONCLUSIONS: NIPT showed a broad application prospects for prenatal screening and diagnosis of fetal chromosomal diseases. We should deepen mining and analyzing the clinical data, and explore the use of NIPT more reasonably from the perspective of evidence-based medicine.
[Mh] Termos MeSH primário: Aneuploidia
Transtornos Cromossômicos/diagnóstico
DNA/sangue
Testes para Triagem do Soro Materno
[Mh] Termos MeSH secundário: Adolescente
Adulto
Transtornos Cromossômicos/sangue
Transtornos Cromossômicos/genética
Reações Falso-Negativas
Reações Falso-Positivas
Feminino
Testes Genéticos
Seres Humanos
Idade Materna
Meia-Idade
Gravidez
Gravidez de Alto Risco/sangue
Gravidez de Alto Risco/genética
Sensibilidade e Especificidade
Adulto Jovem
[Pt] Tipo de publicação:EVALUATION STUDIES; JOURNAL ARTICLE
[Nm] Nome de substância:
9007-49-2 (DNA)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170724
[Lr] Data última revisão:
170724
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170707
[St] Status:MEDLINE
[do] DOI:10.1097/MD.0000000000007114


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[PMID]:28614251
[Au] Autor:Jiang T; Ding J; Zhang XQ; Zhang XJ; Zhang B; Wang T; Yu B
[Ad] Endereço:aObstetrics and Gynecology Hospital Affiliated to Nanjing Medical University, Nanjing bSuzhou Municipal Hospital affiliated to Nanjing Medical University, Suzhou cChangzhou Woman and Children Health Hospital Affiliated to Nanjing Medical University, Changzhou, Jiangsu Province, China.
[Ti] Título:Analysis of Down syndrome failed to be diagnosed after prenatal screening: A multicenter study.
[So] Source:Medicine (Baltimore);96(24):e7166, 2017 Jun.
[Is] ISSN:1536-5964
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:To analyze the characters of Down syndrome (DS) who failed to be diagnosed after prenatal screening and hope to be able to improve the programs of prenatal screening and reduce the missed diagnosis of DS. In this multicenter study, we collected the missed cases from 3 prenatal diagnosis centers and analyzed their characters. A total of 126 DS babies failed to be diagnosed after prenatal screening. Their mothers accepted the prenatal screening in second trimester. We collected the mothers' blood and detected the levels of alpha-fetoprotein (AFP) and the free beta subunit of human chorionic gonadotropin (fßhCG) by time-resolved fluoroimmunoassay. The values were also presented as multiples of the median (MoM) and determined the risk of carrying a fetus with DS by Wallace LifeCycle Elipse analysis software. Compared with normal control group, the level of fßhCG and hCG MoM were dramatically increased, while AFP and AFP MoM were decreased. The area under the receiver-operating-characteristic curve of trisomy 21 was 0.8387 for hCG-MoM and AFP-MoM testing. The sensitivity, specificity, positive predictive value, and negative predictive value were 84.6%, 74.8%, 75.4%, and 83.6%, respectively. Meanwhile, the prediction mode was "0.39957 + 1.90897HCG-MOM -3.32713AFP-MOM". It was worthwhile noting that the risk of 65.9% DS missed diagnosis group were higher than 1/1000, 92.9% higher than 1/3000. However, 72.5% cases in normal control group were lower than 1/3000. Only 9.2% mothers would be higher than the value of risk in 1/1000. The prediction mode of hCG MoM and AFP MoM might be able to help us reduce the missed diagnosis. It is also necessary to adjust more reasonable range of noninvasive prenatal testing with further clinical researches.
[Mh] Termos MeSH primário: Erros de Diagnóstico
Síndrome de Down/diagnóstico
Testes para Triagem do Soro Materno
[Mh] Termos MeSH secundário: Adulto
Área Sob a Curva
Biomarcadores/sangue
Análise Química do Sangue
Gonadotropina Coriônica Humana Subunidade beta/sangue
Feminino
Fluorimunoensaio
Seres Humanos
Gravidez
Segundo Trimestre da Gravidez
Curva ROC
Estudos Retrospectivos
Risco
Software
alfa-Fetoproteínas/análise
[Pt] Tipo de publicação:JOURNAL ARTICLE; MULTICENTER STUDY; OBSERVATIONAL STUDY
[Nm] Nome de substância:
0 (Biomarkers); 0 (Chorionic Gonadotropin, beta Subunit, Human); 0 (alpha-Fetoproteins)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170706
[Lr] Data última revisão:
170706
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170615
[St] Status:MEDLINE
[do] DOI:10.1097/MD.0000000000007166


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[PMID]:28332794
[Au] Autor:Hofmann B; Slagstad K
[Ti] Título:Fostertest som prøvestein og brekkstang..
[So] Source:Tidsskr Nor Laegeforen;137(6):435-436, 2017 Mar.
[Is] ISSN:0807-7096
[Cp] País de publicação:Norway
[La] Idioma:nor
[Mh] Termos MeSH primário: Testes para Triagem do Soro Materno
[Mh] Termos MeSH secundário: Feminino
Seres Humanos
Guias de Prática Clínica como Assunto
Gravidez
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170920
[Lr] Data última revisão:
170920
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170324
[St] Status:MEDLINE
[do] DOI:10.4045/tidsskr.17.0097


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[PMID]:28253571
[Au] Autor:Geng J; Liu C; Zhou XC; Ma J; Du L; Lu J; Zhou WN; Hu TT; Lyu LJ; Yin AH
[Ad] Endereço:Prenatal Diagnosis Center, Guangdong Women and Children's Hospital, Guangzhou Medical University. Guangzhou 511400, China.
[Ti] Título:[Application study of droplet digital PCR to detect maternal cell contamination in prenatal diagnosis].
[So] Source:Zhonghua Fu Chan Ke Za Zhi;52(2):93-97, 2017 Feb 25.
[Is] ISSN:0529-567X
[Cp] País de publicação:China
[La] Idioma:chi
[Ab] Resumo:To develop a new method based on droplet digital PCR (DD-PCR) for detection and quantification of maternal cell contamination in prenatal diagnosis. Invasive prenatal samples from 40 couples of ß(IVS-â…¡-654)/ß(N) thalassemia gene carriers who accepted prenatal diagnosis in Affiliated Women and Children's Hospital of Guangzhou Medical University from October 2015 to December 2016 were analyzed retrospectively. Specific primers and probes were designed. The concentration gradient were 50%, 25%, 12.5%, 6.25%, 3.125%, 1.562 5%. There were 40 groups of prenatal diagnostic samples. Comparing DD-PCR with quantitative fluorescent-PCR (QF-PCR) based on the short tandem repeats for assement of the sensitivity and accuracy of maternal cell contamination, respectively. DD-PCR could quantify the maternal cell contamination as low as 1.562 5%. The result was proportional to the dilution titers. In the 40 prenatal samples, 6 cases (15%, 6/40) of maternal cell contamination were detected by DD-PCR, while the QF-PCR based on short tandem repeat showed 3 cases (7.5%, 3/40) with maternal cell contamination, DD-PCR was more accurate ( 0.002) . DD-PCR is a precise and sensitive method in the detection of maternal cell contamintation. It could be useful in clinical application.
[Mh] Termos MeSH primário: DNA/análise
Testes para Triagem do Soro Materno/métodos
Diagnóstico Pré-Natal/métodos
Reação em Cadeia da Polimerase em Tempo Real/métodos
[Mh] Termos MeSH secundário: Primers do DNA
Feminino
Seres Humanos
Repetições de Microssatélites/genética
Gravidez
Reprodutibilidade dos Testes
Sensibilidade e Especificidade
Talassemia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (DNA Primers); 9007-49-2 (DNA)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170605
[Lr] Data última revisão:
170605
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170304
[St] Status:MEDLINE
[do] DOI:10.3760/cma.j.issn.0529-567X.2017.02.005


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[PMID]:28153663
[Au] Autor:Livergood MC; LeChien KA; Trudell AS
[Ad] Endereço:Department of Obstetrics and Gynecology, Mercy Hospital St Louis, St Louis, MO. Electronic address: christinelivergood@gmail.com.
[Ti] Título:Obesity and cell-free DNA "no calls": is there an optimal gestational age at time of sampling?
[So] Source:Am J Obstet Gynecol;216(4):413.e1-413.e9, 2017 Apr.
[Is] ISSN:1097-6868
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Cell-free DNA screen failures or "no calls" occur in 1-12% of samples and are frustrating for both clinician and patient. The rate of "no calls" has been shown to have an inverse relationship with gestational age. Recent studies have shown an increased risk for "no calls" among obese women. OBJECTIVE: We sought to determine the optimal gestational age for cell-free DNA among obese women. STUDY DESIGN: We performed a retrospective cohort study of women who underwent cell-free DNA at a single tertiary care center from 2011 through 2016. Adjusted odds ratios with 95% confidence intervals for a "no call" were determined for each weight class and compared to normal-weight women. The predicted probability of a "no call" with 95% confidence intervals were determined for each week of gestation for normal-weight and obese women and compared. RESULTS: Among 2385 patients meeting inclusion criteria, 105 (4.4%) had a "no call". Compared to normal-weight women, the adjusted odds ratio of a "no call" increased with increasing weight class from overweight to obesity class III (respectively: adjusted odds ratio, 2.31; 95% confidence interval, 1.21-4.42 to adjusted odds ratio, 8.55; 95% confidence interval, 4.16-17.56). A cut point at 21 weeks was identified for obesity class II/III women at which there is no longer a significant difference in the probability of a "no call" for obese women compared to normal weight women. From 8-16 weeks, there is a 4.5% reduction in the probability of a "no call" for obesity class II/III women (respectively: 14.9%; 95% confidence interval, 8.95-20.78 and 10.4%; 95% confidence interval, 7.20-13.61; P < .01). CONCLUSION: The cut point of 21 weeks for optimal sampling of cell-free DNA limits reproductive choices. However, a progressive fall in the probability of a "no call" with advancing gestational age suggests that delaying cell-free DNA for obese women is a reasonable strategy to reduce the probability of a "no call".
[Mh] Termos MeSH primário: DNA/análise
Testes Genéticos
Idade Gestacional
Testes para Triagem do Soro Materno
Obesidade/epidemiologia
Sobrepeso/epidemiologia
[Mh] Termos MeSH secundário: Adulto
Aneuploidia
Estudos de Coortes
Feminino
Seres Humanos
Missouri/epidemiologia
Gravidez
Estudos Retrospectivos
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
9007-49-2 (DNA)
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170531
[Lr] Data última revisão:
170531
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170204
[St] Status:MEDLINE


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[PMID]:28099747
[Au] Autor:Kaul A; Singh C; Gupta R; Arora N; Gupta A
[Ad] Endereço:Apollo Centre for Fetal Medicine, Indraprastha Apollo Hospitals, New Delhi, India.
[Ti] Título:Observational study comparing the performance of first-trimester screening protocols for detecting trisomy 21 in a North Indian population.
[So] Source:Int J Gynaecol Obstet;137(1):14-19, 2017 Apr.
[Is] ISSN:1879-3479
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: To evaluate first-trimester screening protocols for detecting trisomy 21 in an Indian population. METHODS: The present prospective study collected data from women with singleton pregnancies and a crown-to-rump length of 45-84 mm who presented at the fetal medicine unit of a tertiary care center in North India between June 1, 2006, and December 31, 2015, for combined first-trimester screening. Maternal age, nuchal translucency, nasal bone, and maternal serum levels of free beta human chorionic gonadotropin and pregnancy-associated plasma protein A were assessed for calculating the risk of trisomy 21. Tricuspid regurgitation and qualitative analysis of ductus venosus data were available from June 2010, and were included where available. Trisomy-21 detection rates were calculated for various screening protocols and were compared. RESULTS: There were 4523 women screened and 24 records of trisomy 21. Combined screening with maternal age, nuchal translucency, nasal bone, tricuspid regurgitation, and ductus venosus demonstrated optimal detection and false-positive rates of 93.8% and 1.9%, respectively. Screening using only maternal age yielded a detection rate of 37.5%; using fixed nuchal translucency cut-off values of 2.5 and 3 mm resulted in detection rates of 66.7% and 37.5%, respectively. CONCLUSION: Combined first-trimester screening performed well in an Indian population; combining maternal age, nuchal translucency, nasal bone, ductus venosus, and tricuspid regurgitation yielded the most accurate screening.
[Mh] Termos MeSH primário: Gonadotropina Coriônica Humana Subunidade beta/sangue
Síndrome de Down/diagnóstico
Testes para Triagem do Soro Materno
Primeiro Trimestre da Gravidez
Proteína Plasmática A Associada à Gravidez/análise
Ultrassonografia Pré-Natal
[Mh] Termos MeSH secundário: Adulto
Feminino
Seres Humanos
Índia
Programas de Rastreamento
Idade Materna
Gravidez
Estudos Prospectivos
Sensibilidade e Especificidade
Estatísticas não Paramétricas
[Pt] Tipo de publicação:COMPARATIVE STUDY; JOURNAL ARTICLE; OBSERVATIONAL STUDY
[Nm] Nome de substância:
0 (Chorionic Gonadotropin, beta Subunit, Human); EC 3.4.24.- (Pregnancy-Associated Plasma Protein-A)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170824
[Lr] Data última revisão:
170824
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170119
[St] Status:MEDLINE
[do] DOI:10.1002/ijgo.12087


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[PMID]:27726090
[Au] Autor:Liu C; Zhong C; Zhou X; Chen R; Wu J; Wang W; Li X; Ding H; Guo Y; Gao Q; Hu X; Xiong G; Yang X; Hao L; Xiao M; Yang N
[Ad] Endereço:Department of Nutrition and Food Hygiene, Hubei Key Laboratory of Food Nutrition and Safety, MOE Key Laboratory of Environment and Health, School of Public Health, Tongji Medical College, Huazhong University of Science and Technology, 13 Hangkong Road, Wuhan, 430030, Hubei, China.
[Ti] Título:Higher direct bilirubin levels during mid-pregnancy are associated with lower risk of gestational diabetes mellitus.
[So] Source:Endocrine;55(1):165-172, 2017 Jan.
[Is] ISSN:1559-0100
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Bilirubin concentrations have been recently reported to be negatively associated with type 2 diabetes mellitus. We examined the association between bilirubin concentrations and gestational diabetes mellitus. In a prospective cohort study, 2969 pregnant women were recruited prior to 16 weeks of gestation and were followed up until delivery. The value of bilirubin was tested and oral glucose tolerance test was conducted to screen gestational diabetes mellitus. The relationship between serum bilirubin concentration and gestational weeks was studied by two-piecewise linear regression. A subsample of 1135 participants with serum bilirubin test during 16-18 weeks gestation was conducted to research the association between serum bilirubin levels and risk of gestational diabetes mellitus by logistic regression. Gestational diabetes mellitus developed in 8.5 % of the participants (223 of 2969). Two-piecewise linear regression analyses demonstrated that the levels of bilirubin decreased with gestational week up to the turning point 23 and after that point, levels of bilirubin were increased slightly. In multiple logistic regression analysis, the relative risk of developing gestational diabetes mellitus was lower in the highest tertile of direct bilirubin than that in the lowest tertile (RR 0.60; 95 % CI, 0.35-0.89). The results suggested that women with higher serum direct bilirubin levels during the second trimester of pregnancy have lower risk for development of gestational diabetes mellitus.
[Mh] Termos MeSH primário: Bilirrubina/sangue
Diabetes Gestacional/epidemiologia
Transição Epidemiológica
Hiperbilirrubinemia/diagnóstico
Complicações na Gravidez/diagnóstico
[Mh] Termos MeSH secundário: Adulto
Grupo com Ancestrais do Continente Asiático
Biomarcadores/sangue
China/epidemiologia
Estudos de Coortes
Fatores de Confusão (Epidemiologia)
Diabetes Gestacional/etnologia
Diabetes Gestacional/etiologia
Diabetes Gestacional/prevenção & controle
Feminino
Seguimentos
Teste de Tolerância a Glucose
Seres Humanos
Hiperbilirrubinemia/sangue
Hiperbilirrubinemia/etnologia
Hiperbilirrubinemia/fisiopatologia
Incidência
Testes para Triagem do Soro Materno
Gravidez
Complicações na Gravidez/sangue
Complicações na Gravidez/etnologia
Complicações na Gravidez/fisiopatologia
Segundo Trimestre da Gravidez
Estudos Prospectivos
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Biomarkers); RFM9X3LJ49 (Bilirubin)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:171107
[Lr] Data última revisão:
171107
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161012
[St] Status:MEDLINE
[do] DOI:10.1007/s12020-016-1103-6


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[PMID]:27124739
[Au] Autor:Taneja PA; Prosen TL; de Feo E; Kruglyak KM; Halks-Miller M; Curnow KJ; Bhatt S
[Ad] Endereço:a Illumina, Inc. , Redwood City, CA , USA and.
[Ti] Título:Fetal aneuploidy screening with cell-free DNA in late gestation.
[So] Source:J Matern Fetal Neonatal Med;30(3):338-342, 2017 Feb.
[Is] ISSN:1476-4954
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: The aim of this study was to evaluate clinical use of NIPT at gestational ages of 23 weeks and above. METHODS: A cohort of 5579 clinical patients with singleton gestations of 23 weeks or greater submitting a blood sample for NIPT in an 18-month period were selected for this study. Clinical outcomes were requested for samples with NIPT results indicating fetal aneuploidy and compared with NIPT findings to confirm concordance or discordance. RESULTS: A review of clinical indications revealed that a significantly (p < 0.0001) larger proportion of late-gestation samples indicated abnormal ultrasound findings with or without other indications, 6.2% and 42.1%, compared with early-gestation samples, 1.8% and 6.0%, respectively. Of 5372 reported late-gestation samples, 151 (2.8%) were reported as aneuploidy detected or suspected. In late-gestation samples, the overall observed positive predictive value (PPV) for NIPT was 64.7%, with an observed PPV of 100% in the subset of cases with multiple clinical indications including abnormal ultrasound findings. CONCLUSIONS: NIPT is a highly accurate prenatal screening option for women after 23 weeks of gestation. Women who presented for NIPT in the latter stages of pregnancy more frequently specified clinical indications of abnormal ultrasound findings than women who entered screening earlier in pregnancy.
[Mh] Termos MeSH primário: Transtornos Cromossômicos/diagnóstico
DNA/sangue
Síndrome de Down/diagnóstico
Testes para Triagem do Soro Materno
Segundo Trimestre da Gravidez/sangue
Terceiro Trimestre da Gravidez/sangue
Trissomia/diagnóstico
[Mh] Termos MeSH secundário: Adolescente
Adulto
Transtornos Cromossômicos/genética
Cromossomos Humanos Par 13/genética
Cromossomos Humanos Par 18/genética
Síndrome de Down/genética
Feminino
Idade Gestacional
Seres Humanos
Meia-Idade
Valor Preditivo dos Testes
Gravidez
Estudos Retrospectivos
Trissomia/genética
Síndrome da Trissomia do Cromossomo 13
Síndrome da Trissomía do Cromossomo 18
Ultrassonografia Pré-Natal
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
9007-49-2 (DNA)
[Em] Mês de entrada:1705
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160429
[St] Status:MEDLINE



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