Database : MEDLINE
Search on : Polyhydramnios [Words]
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[PMID]: 29476731
[Au] Autor:Sudrié-Arnaud B; Marguet F; Patrier S; Martinovic J; Louillet F; Broux F; Charbonnier F; Dranguet H; Coutant S; Vezain M; Lanos R; Tebani A; Fuller M; Lamari F; Chambon P; Brehin AC; Trestard L; Tournier I; Marret S; Verspyck E; Laquerrière A; Bekri S
[Ad] Address:Department of Metabolic Biochemistry, Rouen University Hospital, Rouen 76000, France.
[Ti] Title:Metabolic causes of nonimmune hydrops fetalis: A next-generation sequencing panel as a first-line investigation.
[So] Source:Clin Chim Acta;481:1-8, 2018 Feb 22.
[Is] ISSN:1873-3492
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:PURPOSES: Hydrops fetalis is a life-threatening fetal condition, and 85% of all cases are classified as nonimmune hydrops fetalis (NIHF). Up to 15% of NIHF cases may be due to inborn errors of metabolism (IEM), but a large proportion of cases linked to metabolic disorders remains undiagnosed. This lack of diagnosis may be related to the limitations of conventional biological procedures, which involve sequential investigations and require multiple samples and steps. In addition, this approach is time consuming. We have developed a next-generation sequencing (NGS) panel to investigate metabolic causes of NIHF, ascites, and polyhydramnios associated to another fetal abnormality. METHODS: The hydrops fetalis (HydFet) panel was designed to cover the coding regions and flanking intronic sequences of 41 genes. A retrospective study of amniotic fluid samples from 40 subjects was conducted. A prospective study was subsequently initiated, and six samples were analyzed using the NGS panel. RESULTS: Five IEM diagnoses were made using the HydFet panel (Niemann-Pick type C (NPC), Barth syndrome, HNF1Β deficiency, GM1 gangliosidosis, and Gaucher disease). This analysis also allowed the identification of 8p sequence triplication in an additional case. CONCLUSION: NGS combined with robust bioinformatics analyses is a useful tool for identifying the causative variants of NIHF. Subsequent functional characterization of the protein encoded by the altered gene and morphological studies may confirm the diagnosis. This paradigm shift allows a significant improvement of IEM diagnosis in NIHF.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180310
[Lr] Last revision date:180310
[St] Status:Publisher

  2 / 3200 MEDLINE  
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[PMID]: 29287298
[Au] Autor:Washburn EE; Sparks TN; Gosnell KA; Rand L; Gonzalez JM; Feldstein VA
[Ad] Address:Department of Obstetrics, Gynecology, and Reproductive Sciences, University of California, San Francisco, California.
[Ti] Title:Polyhydramnios Affecting a Recipient-like Twin: Risk of Progression to Twin-Twin Transfusion Syndrome and Outcomes.
[So] Source:Am J Perinatol;35(4):317-323, 2018 Mar.
[Is] ISSN:1098-8785
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:OBJECTIVE: The significance of polyhydramnios of one twin in the absence of oligohydramnios of the cotwin in monochorionic diamniotic (MCDA) twin pregnancies (polyhydramnios affecting a recipient-like twin [PART]) is unknown. Our aim is to assess the risk of progression to twin-twin transfusion syndrome (TTTS) with PART, progression to ≥ stage II TTTS, and neonatal survival. STUDY DESIGN: This study was a retrospective cohort study of MCDA twin pregnancies with PART evaluated at a referral center from 2008 to 2015. RESULTS: Sixty-four MCDA twin pregnancies with PART were identified. Fifteen (23.4%) progressed to TTTS, including 10 (15.6%) who progressed to ≥ stage II TTTS. Three pregnancies were terminated and one underwent selective reduction by radiofrequency ablation. Overall survival was 113 out of 128 (88.3%). Of those who remained stable, 91.8% ( = 45) had survival of both neonates. In multivariate analysis, the presence of arterioarterial (A-A) anastomosis by in utero Doppler ultrasound was associated with decreased risk of progression to TTTS (odds ratio: 0.12, = 0.03, 95% confidence interval: 0.02-0.78). CONCLUSION: Most MCDA twin pregnancies with PART do not progress to TTTS and have a favorable prognosis. Progression rates are higher than observed in uncomplicated MCDA twins; however, so close surveillance is warranted. The presence of an A-A anastomosis appears to confer decreased risk of progression to TTTS.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1712
[Cu] Class update date: 180309
[Lr] Last revision date:180309
[St] Status:In-Data-Review
[do] DOI:10.1055/s-0037-1615795

  3 / 3200 MEDLINE  
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[PMID]: 29363451
[Au] Autor:Farrell DF; Lupone CD; Kenneson A; Cueva C; Heydari N; Barzallo Aguilera JH; Polhemus M; Endy TP; Stewart-Ibarra AM
[Ad] Address:Center for Global Health and Translational Science, SUNY Upstate Medical University, Syracuse, New York.
[Ti] Title:Case Report: An Acute Chikungunya Infection and a Recent Secondary Dengue Infection in a Peripartum Case in Ecuador.
[So] Source:Am J Trop Med Hyg;98(3):838-840, 2018 Mar.
[Is] ISSN:1476-1645
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Dengue virus (DENV) and chikungunya virus (CHIKV) are transmitted by the same mosquito vectors and now co-circulate in many parts of the world; however, coinfections and serial infections are not often diagnosed or reported. A 38-week pregnant woman was admitted to the hospital with a diagnosis of suspected DENV and CHIKV in southern coastal Ecuador. The pregnancy was complicated by mild polyhydramnios and fetal tachycardia, and a healthy newborn was born. The patient was positive for a recent secondary DENV infection (Immunoglobulin M and Immunoglobulin G positive) and an acute CHIKV infection (real-time reverse transcriptase polymerase chain reaction positive) (Asian genotype). The newborn was not tested for either virus. This case resulted in a benign clinical course with a favorable pregnancy outcome.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180308
[Lr] Last revision date:180308
[St] Status:In-Data-Review
[do] DOI:10.4269/ajtmh.17-0781

  4 / 3200 MEDLINE  
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[PMID]: 29511323
[Au] Autor:Low KJ; Stals K; Caswell R; Wakeling M; Clayton-Smith J; Donaldson A; Foulds N; Norman A; Splitt M; Urankar K; Vijayakumar K; Majumdar A; Study D; Ellard S; Smithson SF
[Ad] Address:Department of Clinical Genetics, St Michaels Hospital, Bristol, UK.
[Ti] Title:Phenotype of CNTNAP1: a study of patients demonstrating a specific severe congenital hypomyelinating neuropathy with survival beyond infancy.
[So] Source:Eur J Hum Genet;, 2018 Mar 06.
[Is] ISSN:1476-5438
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:CHN is genetically heterogeneous and its genetic basis is difficult to determine on features alone. CNTNAP1 encodes CASPR, integral in the paranodal junction high molecular mass complex. Nineteen individuals with biallelic variants have been described in association with severe congenital hypomyelinating neuropathy, respiratory compromise, profound intellectual disability and death within the first year. We report 7 additional patients ascertained through exome sequencing. We identified 9 novel CNTNAP1 variants in 6 families: three missense variants, four nonsense variants, one frameshift variant and one splice site variant. Significant polyhydramnios occurred in 6/7 pregnancies. Severe respiratory compromise was seen in 6/7 (tracheostomy in 5). A complex neurological phenotype was seen in all patients who had marked brain hypomyelination/demyelination and profound developmental delay. Additional neurological findings included cranial nerve compromise: orobulbar dysfunction in 5/7, facial nerve weakness in 4/7 and vocal cord paresis in 5/7. Dystonia occurred in 2/7 patients and limb contractures in 5/7. All had severe gastroesophageal reflux, and a gastrostomy was required in 5/7. In contrast to most previous reports, only one patient died in the first year of life. Protein modelling was performed for all detected CNTNAP1 variants. We propose a genotype-phenotype correlation, whereby hypomorphic missense variants partially ameliorate the phenotype, prolonging survival. This study suggests that biallelic variants in CNTNAP1 cause a distinct recognisable syndrome, which is not caused by other genes associated with CHN. Neonates presenting with this phenotype will benefit from early genetic definition to inform clinical management and enable essential genetic counselling for their families.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180307
[Lr] Last revision date:180307
[St] Status:Publisher
[do] DOI:10.1038/s41431-018-0110-x

  5 / 3200 MEDLINE  
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[PMID]: 29507014
[Au] Autor:Kim A; Economidis MA; Stohl HE
[Ad] Address:Department of Obstetrics and Gynecology, Harbor UCLA Medical Center, Torrance, California, USA.
[Ti] Title:Placental abruption after amnioreduction for polyhydramnios caused by chorioangioma.
[So] Source:BMJ Case Rep;2018, 2018 Mar 05.
[Is] ISSN:1757-790X
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Placental chorioangioma is the most common type of a benign placental tumour that occurs in 1% of pregnancies. A large chorioangioma is associated with adverse pregnancy outcomes. We present a case of placental abruption necessitating preterm delivery after multiple amnioreductions for polyhydramnios caused by a large chorioangioma. If antenatal diagnosis of a significant chorioangioma is made as the cause of polyhydramnios, caution should be taken when performing rapid amnioreductions.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180306
[Lr] Last revision date:180306
[St] Status:In-Process

  6 / 3200 MEDLINE  
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[PMID]: 29359448
[Au] Autor:Deng L; Cheung SW; Schmitt ES; Xiong S; Yuan M; Chen Z; Chen L; Sun L
[Ad] Address:Department of Fetal Medicine Unit and Prenatal Diagnosis Center, Shanghai First Maternity and Infant Hospital of Tongji University, Shanghai, China.
[Ti] Title:Targeted gene panel sequencing prenatally detects two novel mutations of DYNC2H1 in a fetus with increased biparietal diameter and polyhydramnios.
[So] Source:Birth Defects Res;110(4):364-371, 2018 Mar 01.
[Is] ISSN:2472-1727
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:BACKGROUND: Genetic skeletal disorders (GSDs) are clinically and genetically heterogeneous with more than 350 genes accounting for the diversity of disease phenotypes. Prenatal diagnosis of these disorders has been challenging because of the limited but variable prenatal phenotypes, highlighting the need of a novel genetic approach. Short-rib polydactyly syndrome (SRPS) Type III is an autosomal recessive GSD characterized by extreme narrowness of the thorax, severely shortened tubular bones, polydactyly and multiple malformations. METHODS: Cytogenetic and molecular analyses using GTG-banding, single nucleotide polymorphism array and a novel GSDs targeted gene panel sequencing were performed in a 24 weeks fetus with increased biparietal diameter (BPD), short limbs, narrow thorax and polyhydramnios. RESULTS: No chromosomal abnormalities and pathogenic copy number variations (CNVs) were detected in the fetus. Two novel compound heterozygous mutations c.2992C > T and c.12836G > C in the DYNC2H1 gene were identified by targeted genes panel sequencing. A literature review was performed to delineate the prenatal phenotype of SRPS Type III. CONCLUSION: This is the first report of prenatal diagnosis of DYNC2H1 mutations causing SRPS Type III in a fetus with increased BPD associated with polyhydramnios in China. Our findings expand the mutation spectrum of DYNC2H1 in this rare disease and demonstrate that targeted gene panel capture followed by next-generation sequencing (NGS) is an efficient and cost-effective method to perform a molecular prenatal diagnosis of a rare genetic skeletal disorder.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180228
[Lr] Last revision date:180228
[St] Status:In-Data-Review
[do] DOI:10.1002/bdr2.1146

  7 / 3200 MEDLINE  
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[PMID]: 29303230
[Au] Autor:Biesty LM; Egan AM; Dunne F; Dempsey E; Meskell P; Smith V; Ni Bhuinneain GM; Devane D
[Ad] Address:School of Nursing and Midwifery, National University of Ireland Galway, Aras Moyola, Galway, Ireland.
[Ti] Title:Planned birth at or near term for improving health outcomes for pregnant women with gestational diabetes and their infants.
[So] Source:Cochrane Database Syst Rev;1:CD012910, 2018 Jan 05.
[Is] ISSN:1469-493X
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:BACKGROUND: Gestational diabetes is a type of diabetes that occurs during pregnancy. Women with gestational diabetes are more likely to experience adverse health outcomes such as pre-eclampsia or polyhydramnios (excess amniotic fluid). Their babies are also more likely to have health complications such as macrosomia (birthweight > 4000 g) and being large-for-gestational age (birthweight above the 90th percentile for gestational age). Current clinical guidelines support elective birth, at or near term in women with gestational diabetes to minimise perinatal complications, especially those related to macrosomia.This review replaces a review previously published in 2001 that included "diabetic pregnant women", which has now been split into two reviews. This current review focuses on pregnant women with gestational diabetes and a sister review focuses on women with pre-existing diabetes (Type 1 or Type 2). OBJECTIVES: To assess the effect of planned birth (either by induction of labour or caesarean birth), at or near term (37 to 40 weeks' gestation) compared with an expectant approach for improving health outcomes for women with gestational diabetes and their infants. The primary outcomes relate to maternal and perinatal mortality and morbidity. SEARCH METHODS: We searched Cochrane Pregnancy and Childbirth's Trials Register, ClinicalTrials.gov and the WHO International Clinical Trials Registry Platform (ICTRP) (15 August 2017), and reference lists of retrieved studies. SELECTION CRITERIA: We included randomised trials comparing planned birth, at or near term (37 to 40 weeks' gestation), with an expectant approach, for women with gestational diabetes. Cluster-randomised and non-randomised trials (e.g. quasi-randomised trials using alternate allocation) were also eligible for inclusion but none were identified. DATA COLLECTION AND ANALYSIS: Two of the review authors independently assessed study eligibility, extracted data and assessed the risk of bias of the included study. The quality of the evidence was assessed using the GRADE approach. MAIN RESULTS: The findings of this review are based on a single trial involving 425 women with gestational diabetes. The trial compared induction of labour with expectant management (waiting for the spontaneous onset of labour in the absence of any maternal or fetal issues that may necessitate birth) in pregnant women with gestational diabetes at term. We assessed the overall risk of bias as being low for most domains, apart from performance, detection and attrition bias (for outcome perineum intact), which we assessed as being at high risk. It was an open-label trial, and women and healthcare professionals were not blinded.There were no clear differences between women randomised to induction of labour and women randomised to expectant management for maternal mortality or serious maternal morbidity (risk ratio (RR) 1.48, 95% confidence interval (CI) 0.25 to 8.76, one trial, 425 women); caesarean section (RR 1.06, 95% CI 0.64 to 1.77, one trial, 425 women); or instrumental vaginal birth (RR 0.81, 95% CI 0.45 to 1.46, one trial, 425 women). For the primary outcome of maternal mortality or serious maternal morbidity, there were no deaths in either group and serious maternal morbidity related to admissions to intensive care unit. The quality of the evidence contributing to these outcomes was assessed as very low, mainly due to the study having high risk of bias for some domains and because of the imprecision of effect estimates.In relation to primary neonatal outcomes, there were no perinatal deaths in either group. The quality of evidence for this outcome was judged as very low, mainly due to high risk of bias and imprecision of effect estimates. There were no clear differences in infant outcomes between women randomised to induction of labour and women randomised to expectant management: shoulder dystocia (RR 2.96, 95% CI 0.31 to 28.21, one trial, 425 infants, very low-quality evidence); large-for-gestational age (RR 0.53, 95% CI 0.28 to 1.02, one trial, 425 infants, low-quality evidence).There were no clear differences between women randomised to induction of labour and women randomised to expectant management for postpartum haemorrhage (RR 1.17, 95% CI 0.53 to 2.54, one trial, 425 women); admission to intensive care unit (RR 1.48, 95% CI 0.25 to 8.76, one trial, 425 women); and intact perineum (RR 1.02, 95% CI 0.73 to 1.43, one trial, 425 women). No infant experienced a birth trauma, therefore, we could not draw conclusions about the effect of the intervention on the outcomes of brachial plexus injury and bone fracture at birth. Infants of women in the induction-of-labour group had higher incidences of neonatal hyperbilirubinaemia (jaundice) when compared to infants of women in the expectant-management group (RR 2.46, 95% CI 1.11 to 5.46, one trial, 425 women).We found no data on the following prespecified outcomes of this review: postnatal depression, maternal satisfaction, length of postnatal stay (mother), acidaemia, intracranial haemorrhage, hypoxia ischaemic encephalopathy, small-for-gestational age, length of postnatal stay (baby) and cost.The authors of this trial acknowledge that it is underpowered for their primary outcome of caesarean section. The authors of the trial and of this review note that the CIs demonstrate a wide range, therefore making it inappropriate to draw definite conclusions. AUTHORS' CONCLUSIONS: There is limited evidence to inform implications for practice. The available data are not of high quality and lack power to detect possible important differences in either benefit or harm. There is an urgent need for high-quality trials evaluating the effectiveness of planned birth at or near term gestation for women with gestational diabetes compared with an expectant approach.
[Mh] MeSH terms primary: Diabetes, Gestational
Fetal Macrosomia/prevention & control
Labor, Induced/methods
Term Birth
Watchful Waiting
[Mh] MeSH terms secundary: Cesarean Section
Female
Humans
Infant
Pregnancy
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Em] Entry month:1802
[Cu] Class update date: 180226
[Lr] Last revision date:180226
[Js] Journal subset:IM
[Da] Date of entry for processing:180106
[St] Status:MEDLINE
[do] DOI:10.1002/14651858.CD012910

  8 / 3200 MEDLINE  
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[PMID]: 29458884
[Au] Autor:Lai ST; Chen CP; Lin CJ; Hsu CY; Wu PS; Lee CC; Pan CW; Wang W
[Ad] Address:Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan.
[Ti] Title:Late-onset fetal bilateral pleural effusions associated with Down syndrome.
[So] Source:Taiwan J Obstet Gynecol;57(1):133-136, 2018 Feb.
[Is] ISSN:1875-6263
[Cp] Country of publication:China (Republic : 1949- )
[La] Language:eng
[Ab] Abstract:OBJECTIVE: We present two cases of late-onset bilateral fetal pleural effusions associated with fetal Down syndrome. CASE REPORTS: Case 1. A 33-year-old Vietnamese woman had undergone regular sonographic examinations since 23 weeks of gestation and no abnormality had been noted. However, bilateral moderate pleural effusions were found at 33 weeks of gestation, and massive pleural effusion, ascites and polyhydramnios developed at 34 weeks of gestation. Aspiration of the pleural effusion was subsequently performed. Clinical laboratory surveys of the aspiration fluid excluded toxoplasmosis and cytomegalovirus infection. Cytogenetic analysis of cultured lymphocytes derived from pleural effusion revealed a karyotype of 47,XX,+21. The parents elected to continue the pregnancy. Intrauterine fetal demise occurred at 37 weeks of gestation, and a macerated female baby was delivered. Postnatal cytogenetic analysis of the umbilical cord confirmed the prenatal diagnosis. Case 2. A 41-year-old Pakistani woman had undergone regular sonographic examinations and no abnormality had been noted. However, isolated bilateral mild pleural effusions were noted at 27 weeks of gestation. Amniocentesis revealed a karyotype of 47,XY,+21 and simultaneous array comparative genomic hybridization analysis of uncultured amniocytes confirmed the diagnosis of Down syndrome. The pregnancy was subsequently terminated. CONCLUSION: Fetuses with Down syndrome may present late-onset bilateral pleural effusions. Prenatal diagnosis of late-onset bilateral pleural effusions should raise the possibility of fetal Down syndrome and cytogenetic investigation is warranted.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180220
[Lr] Last revision date:180220
[St] Status:In-Process

  9 / 3200 MEDLINE  
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[PMID]: 29453483
[Au] Autor:Das R; Subedi N; Gurung G
[Ad] Address:Department of Obstetrics and Gynaecology, Universal College of Medical Sciences and Teaching Hospital, Bhairahwa, Nepal.
[Ti] Title:Chorioangioma of Placenta.
[So] Source:JNMA J Nepal Med Assoc;56(208):472-474, 2017 Oct-Dec.
[Is] ISSN:0028-2715
[Cp] Country of publication:Nepal
[La] Language:eng
[Ab] Abstract:Chorioangioma of placenta is the commonest benign tumour of the placenta. It consists of a benign angioma arising from chorionic tissue. We report a case of placental chorioangioma which was diagnosed in the post partum period in a patient with polyhydramnios who went into preterm labor and delivered a premature baby.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180217
[Lr] Last revision date:180217
[St] Status:In-Data-Review

  10 / 3200 MEDLINE  
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Bittar, Roberto Eduardo
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[PMID]: 29329576
[Au] Autor:Barbosa BML; Rodrigues AS; Carvalho MHB; Bittar RE; Francisco RPV; Bernardes LS
[Ad] Address:Departamento de Obstetrícia e Ginecologia, Faculdade de Medicina, FMUSP,, Universidade de São Paulo, São Paulo, Av. Dr Eneas de Carvalho Aguiar, 255 Cerqueira Cesar, São Paulo, CEP: 05403-000, Brazil.
[Ti] Title:Spontaneous prematurity in fetuses with congenital diaphragmatic hernia: a retrospective cohort study about prenatal predictive factors.
[So] Source:BMC Pregnancy Childbirth;18(1):27, 2018 01 12.
[Is] ISSN:1471-2393
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:BACKGROUND: To evaluate possible predictive factors of spontaneous prematurity in fetuses with congenital diaphragmatic hernia (CDH). METHODS: A retrospective cohort study was performed. Inclusion criteria were presence of CDH; absence of fetoscopy; absence of karyotype abnormality; maximum of one major malformation associated with diaphragmatic hernia; ultrasound monitoring at the Obstetrics Clinic of Clinicas Hospital at the University of São Paulo School of Medicine, from January 2001 to October 2014. The data were obtained through the electronic records and ultrasound system of our fetal medicine service. The following variables were analyzed: maternal age, primiparity, associated maternal diseases, smoking, previous spontaneous preterm birth, fetal malformation associated with hernia, polyhydramnios, fetal growth restriction, presence of intrathoracic liver, invasive procedures performed, side of hernia and observed-to- expected lung to head ratio (o/e LHR). On individual analysis, variables were assessed using the Chi-square test and the Mann-Whitney test. A multiple logistic regression model was applied to select variables independently influencing the prediction of preterm delivery. A ROC curve was constructed with the significant variable, identifying the values with best sensitivity and specificity to be suggested for use in clinical practice. RESULTS: Eighty fetuses were evaluated, of which, 21 (26.25%) were premature. O/e LHR was the only factor associated with prematurity (p = 0.020). The ROC curve showed 93% sensitivity with 48.4% specificity for the cutoff of 40%. CONCLUSION: O/e LHR was the only predictor of prematurity in this sample.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180212
[Lr] Last revision date:180212
[St] Status:In-Process
[do] DOI:10.1186/s12884-017-1652-6


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