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1.
Medicine (Baltimore) ; 100(20): e25999, 2021 May 21.
Artigo em Inglês | MEDLINE | ID: mdl-34011095

RESUMO

ABSTRACT: Chromosomal microarray analysis (CMA) has emerged as a primary diagnostic tool for the evaluation of developmental delay and structural malformations in children. The aim of this study was to compare the accuracy and value of CMA and karyotyping on diagnosis of chromosomal abnormalities in Fujian province of South China.In the study, 410 clinical samples were collected from pregnant women between March 2015 and December 2016, including 3 villus (0.73%, 3/410), 296 amniotic fluid (72.20%, 296/410), and 111 umbilical cord blood (27.07%, 111/410). All samples were screening for chromosomal abnormalities by both using CMA and karyotyping.The success rate of CMA and karyotyping was 100% (410/410) and 99.27% (407/410), respectively. Sixty-one (14.88%, 61/410) samples were presented with chromosomal abnormalities by using CMA, whereas 47 (11.55%, 47/407) samples were shown with chromosomal abnormalities by using karyotyping. Thirty-one (8.61%, 31/360) samples with normal karyotypes were found to exist chromosomal abnormalities by using CMA. Receiver operating characteristic analysis showed that the area under the curve of karyotyping on the diagnosis of chromosomal abnormalities was 0.90 (95% confidence interval: 0.87-0.93), the sensitivity and specificity was 87.56% and 91.22%, respectively. The area under the curve of CMA on the diagnosis of chromosomal abnormalities was 0.93 (95% confidence interval: 0.90-0.95), with 90.68% sensitivity and 94.40% specificity. Notably, the combination of CMA and karyotyping could improve the diagnosis of chromosomal abnormalities.CMA has a better diagnostic value for screening chromosomal abnormalities, especially for those pregnant women with normal karyotypes. This study has guiding value for prenatal diagnosis in Fujian province of South China.


Assuntos
Transtornos Cromossômicos/diagnóstico , Testes Genéticos/métodos , Cariotipagem/estatística & dados numéricos , Análise em Microsséries/estatística & dados numéricos , Diagnóstico Pré-Natal/métodos , Adulto , China , Transtornos Cromossômicos/genética , Cromossomos Humanos/genética , Feminino , Testes Genéticos/estatística & dados numéricos , Idade Gestacional , Humanos , Gravidez , Diagnóstico Pré-Natal/estatística & dados numéricos , Estudos Prospectivos , Curva ROC , Estudos Retrospectivos , Adulto Jovem
2.
Acta Obstet Gynecol Scand ; 100 Suppl 1: 21-28, 2021 03.
Artigo em Inglês | MEDLINE | ID: mdl-33811333

RESUMO

INTRODUCTION: In cases of placenta accreta spectrum, a precise antenatal diagnosis of the suspected degree of invasion is essential for the planning of individual management strategies at delivery. The aim of this work was to evaluate the respective performances of ultrasonography and magnetic resonance imaging for the antenatal assessment of the severity of placenta accreta spectrum disorders included in the database. The secondary objective was to identify descriptors related to the severity of placenta accreta spectrum disorders. MATERIAL AND METHODS: All the cases included in the database for which antenatal imaging data were available were analyzed. The rates of occurrence of each ultrasound and magnetic resonance imaging descriptor were reported and compared between the Group "Accreta-Increta" (FIGO grades 1 & 2) and the Group "Percreta" (FIGO grade 3). RESULTS: Antenatal imaging data were available for 347 women (347/442, 78.5%), of which 105 were included in the Group "Accreta - Increta" (105/347, 30.2%) and 213 (213/347, 61.4%) in the Group "Percreta". Magnetic resonance imaging was performed in addition to ultrasound in 135 women (135/347, 38.9%). After adjustment for all ultrasound descriptors in multivariate analysis, only the presence of a bladder wall interruption was associated with a significant higher risk of percreta (Odds ratio 3.23, Confidence interval 1.33-7.79). No magnetic resonance imaging sign was significantly correlated with the degree of severity. CONCLUSIONS: The performance of ultrasound and magnetic resonance imaging to discriminate mild from severe placenta accreta spectrum disorders is very poor. To date, the benefit of additional magnetic resonance imaging has not been demonstrated.


Assuntos
Imageamento por Ressonância Magnética/normas , Placenta Acreta/classificação , Placenta Acreta/diagnóstico por imagem , Diagnóstico Pré-Natal/métodos , Índice de Gravidade de Doença , Ultrassonografia Pré-Natal/normas , Estudos de Coortes , Bases de Dados Factuais , Europa (Continente) , Feminino , Humanos , Gravidez , Sensibilidade e Especificidade , Estados Unidos
3.
BMC Pregnancy Childbirth ; 21(1): 330, 2021 Apr 26.
Artigo em Inglês | MEDLINE | ID: mdl-33902481

RESUMO

BACKGROUND: Screening for antenatal depression and its determinants is highly recommended. However, there is no consensus on a standard conceptual framework to approach pregnant women in a primary health care setting. The prevalence of antenatal depression and significant determinants are unknown in Qatar, a gap that we propose to fill. METHODS: An analytical cross-sectional study with a probability sampling technique was employed. Enrolling eight-hundred participants from primary health care centers. The screening was performed through a valid and reliable screening instrument 'Edinburgh Postpartum Depression Scale.' In addition to the proposed Comprehensive Biopsychosocial Model, participants were asked about their predisposing profile, biological risk, and other suggested modifiable variables. RESULTS: Twenty-one percent reported minor depressive episodes (n = 167, 20.9%) at a 95% confidence interval [18.2-23.8]. Previous use of mental health medications, fear of giving birth, concern about appearance, low perceived social support, and low resilience level showed to be associated with antenatal depression. The logistic regression analyses revealed that the Comprehensive Biopsychosocial model forecast 89% of antenatal depression predictors provided Area Under the Receiver Operating Characteristic Curve of 0.89 at a 95% confidence interval [0.85 to 0.92]. CONCLUSIONS: Antenatal depression is common among pregnant women in Qatar, and preventive interventions must target the determinants revealed. From a clinical perspective, the use of the proposed model may aid in the standardization of the screening process.


Assuntos
Depressão , Parto/psicologia , Complicações na Gravidez , Gestantes/psicologia , Diagnóstico Pré-Natal/métodos , Adulto , Insatisfação Corporal , Causalidade , Depressão/diagnóstico , Depressão/epidemiologia , Depressão/prevenção & controle , Depressão/psicologia , Medo , Feminino , Humanos , Saúde Mental , Determinação de Necessidades de Cuidados de Saúde , Gravidez , Complicações na Gravidez/diagnóstico , Complicações na Gravidez/epidemiologia , Complicações na Gravidez/prevenção & controle , Complicações na Gravidez/psicologia , Psicotrópicos/uso terapêutico , Catar/epidemiologia , Apoio Social
4.
Medicine (Baltimore) ; 100(17): e25647, 2021 Apr 30.
Artigo em Inglês | MEDLINE | ID: mdl-33907123

RESUMO

ABSTRACT: To understand the possible carrier status of genes associated with hereditary hearing loss (HHL) in the general population among local residents and to give genetic counseling for pregnant women.A total of 3541 subjects were recruited. We used multiplex PCR technology combined with next-generation sequencing technology to detect 100 hotspot mutations in 18 common deafness-related genes. The homozygous mutation screening results were verified using Sanger sequencing.Of the 3541 participants, 37 alleles of 8 deafness genes were detected. A total of 145 (4.09%) were found to be GJB2 gene mutation carriers, and the hotspot mutation was c.235delC (1.54%). Twenty three (0.65%) were found to be GJB3 gene mutation carriers. A total of 132 (3.37%) were found to be SLC26A4 gene mutation carriers, and the hotspot mutation was c.919-2A > G (0.49%). Forty four (1.24%) were found to be mitochondrial DNA mutation carriers. Sanger sequencing results verified that 2 cases were homozygous for the c.235delC mutation and that 1 case was homozygous for the c.754T > C mutation.Genetic testing for pregnant women and their partners allows early identification of the molecular etiology of hearing loss (HL). On the one hand, it could give genetic counseling for pregnant women, such as early diagnosis of delayed deafness and drug-susceptible deafness. On the other hand, it could be used to assess hearing conditions during pregnancy, leading to prevention and timely intervention for newborns.


Assuntos
Testes Genéticos/métodos , Perda Auditiva/diagnóstico , Perda Auditiva/genética , Diagnóstico Pré-Natal/métodos , Adulto , Alelos , Grupo com Ancestrais do Continente Asiático/genética , China , Conexina 26/genética , Conexinas/genética , Análise Mutacional de DNA , DNA Mitocondrial/genética , Feminino , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Recém-Nascido , Masculino , Proteínas de Membrana/genética , Reação em Cadeia da Polimerase Multiplex , Mutação , Gravidez , Transportadores de Sulfato/genética
5.
Int J Mol Sci ; 22(4)2021 Feb 18.
Artigo em Inglês | MEDLINE | ID: mdl-33670450

RESUMO

Hemophilia is an X-linked recessive bleeding disorder. In pregnant women carrier of hemophilia, the fetal sex can be determined by non-invasive analysis of fetal DNA circulating in the maternal blood. However, in case of a male fetus, conventional invasive procedures are required for the diagnosis of hemophilia. Fetal cells, circulating in the maternal bloodstream, are an ideal target for a safe non-invasive prenatal diagnosis. Nevertheless, the small number of cells and the lack of specific fetal markers have been the most limiting factors for their isolation. We aimed to develop monoclonal antibodies (mAbs) against the ribosomal protein RPS4Y1 expressed in male cells. By Western blotting, immunoprecipitation and immunofluorescence analyses performed on cell lysates from male human hepatoma (HepG2) and female human embryonic kidney (HEK293) we developed and characterized a specific monoclonal antibody against the native form of the male RPS4Y1 protein that can distinguish male from female cells. The availability of the RPS4Y1-targeting monoclonal antibody should facilitate the development of novel methods for the reliable isolation of male fetal cells from the maternal blood and their future use for non-invasive prenatal diagnosis of X-linked inherited disease such as hemophilia.


Assuntos
Anticorpos Monoclonais/imunologia , Ácidos Nucleicos Livres/imunologia , Doenças Fetais/imunologia , Hemofilia A/imunologia , Diagnóstico Pré-Natal/métodos , Proteínas Ribossômicas/imunologia , Especificidade de Anticorpos/imunologia , Ácidos Nucleicos Livres/genética , Ácidos Nucleicos Livres/metabolismo , Feminino , Doenças Fetais/sangue , Doenças Fetais/diagnóstico , Células HEK293 , Hemofilia A/sangue , Hemofilia A/diagnóstico , Células Hep G2 , Humanos , Masculino , Gravidez , Proteínas Ribossômicas/genética , Proteínas Ribossômicas/metabolismo , Sensibilidade e Especificidade
6.
Neurosci Lett ; 750: 135791, 2021 04 17.
Artigo em Inglês | MEDLINE | ID: mdl-33705927

RESUMO

BACKGROUND: Investigation of fetal evoked response to auditory or visual stimuli is an important means of understanding the developmental stages and potential problems in prenatal life. It is, however, not without certain imperfections. The biggest challenge with fetal evoked response is its low signal to noise ratio. Under noisy conditions, the detected fetal evoked response should, therefore, be further investigated to confirm that the source of the signal is from fetal brain and is not related to random noise. Existing methods for verification are: (1) visual inspection of magnetic field maps, which requires user intervention and expert knowledge which can be highly subjective; (2) simultaneous ultrasound measurement, which is expensive and technically difficult to manage; and (3) equivalent current dipole fitting, which requires knowledge of the orientation of fetal head and its dimensions that may not be available at all times. OBJECTIVE: To verify that the detected fetal evoked response signal is originating from the fetal head by using an objective and feasible method that employs magnetic dipole fitting to fetal evoked response. STUDY DESIGN: From raw fetal magnetoencephalography data, the cardiac interference was removed by frequency dependent subtraction. After averaging over stimulus triggers, the resulting signal was taken as the candidate fetal evoked response. The fetal evoked response was investigated for the highest peak in between 0.2-0.5 s, which is the expected latency of the response to the stimulus. The magnetic field at this highest peak was used for magnetic dipole fitting. The validation of peak was based on the closeness of the magnetic dipole fit to vicinity of fetal head location determined by ultrasound and the anatomically reasonable distance from the fetal heart. The methodology was first tested on a sample neonatal data before application to fetal data. RESULTS: The results of neonatal application confirmed that the source localization by magnetic dipole fitting for the brain produced meaningful results. When applied to fetal data, auditory and visual evoked response was detected in 27 of the 38 recordings. This implied that with our verification method, fetal evoked responses were detected in 71% of fetuses. CONCLUSION: Detection rate of the evoked responses were similar to earlier reports where subjective visual inspection or simultaneous ultrasound measurement were used. Our method using magnetic dipole fitting for verification is more feasible and objective compared to the earlier methods.


Assuntos
Potenciais Evocados , Feto/fisiologia , Magnetoencefalografia/métodos , Estimulação Acústica , Adulto , Feminino , Humanos , Recém-Nascido , Masculino , Estimulação Luminosa , Gravidez , Diagnóstico Pré-Natal/métodos
7.
BMC Pregnancy Childbirth ; 21(1): 172, 2021 Mar 02.
Artigo em Inglês | MEDLINE | ID: mdl-33653299

RESUMO

BACKGROUND: This study introduced machine learning approaches to predict newborn's body mass index (BMI) based on ultrasound measures and maternal/delivery information. METHODS: Data came from 3159 obstetric patients and their newborns enrolled in a multi-center retrospective study. Variable importance, the effect of a variable on model performance, was used for identifying major predictors of newborn's BMI among ultrasound measures and maternal/delivery information. The ultrasound measures included biparietal diameter (BPD), abdominal circumference (AC) and estimated fetal weight (EFW) taken three times during the week 21 - week 35 of gestational age and once in the week 36 or later. RESULTS: Based on variable importance from the random forest, major predictors of newborn's BMI were the first AC and EFW in the week 36 or later, gestational age at delivery, the first AC during the week 21 - the week 35, maternal BMI at delivery, maternal weight at delivery and the first BPD in the week 36 or later. For predicting newborn's BMI, linear regression (2.0744) and the random forest (2.1610) were better than artificial neural networks with one, two and three hidden layers (150.7100, 154.7198 and 152.5843, respectively) in the mean squared error. CONCLUSIONS: This is the first machine-learning study with 64 clinical and sonographic markers for the prediction of newborns' BMI. The week 36 or later is the most effective period for taking the ultrasound measures and AC and EFW are the best predictors of newborn's BMI alongside gestational age at delivery and maternal BMI at delivery.


Assuntos
Peso ao Nascer , Índice de Massa Corporal , Parto Obstétrico , Aprendizado de Máquina , Diagnóstico Pré-Natal/métodos , Ultrassonografia Pré-Natal/métodos , Adulto , Tamanho Corporal , Parto Obstétrico/métodos , Parto Obstétrico/estatística & dados numéricos , Feminino , Peso Fetal , Idade Gestacional , Humanos , Recém-Nascido , Redes Neurais de Computação , Valor Preditivo dos Testes , Gravidez , Terceiro Trimestre da Gravidez , Prognóstico , República da Coreia/epidemiologia , Estudos Retrospectivos
8.
BMC Pregnancy Childbirth ; 21(1): 181, 2021 Mar 05.
Artigo em Inglês | MEDLINE | ID: mdl-33663429

RESUMO

BACKGROUND: Since maternal mortality is a rare event, maternal near miss has been used as a proxy indicator for measuring maternal health. Maternal near miss (MNM) refers to a woman who nearly died but survived of complications during pregnancy, childbirth or within 42 days of termination of pregnancy. Although study of MNM in Ethiopia is becoming common, it is limited to public facilities leaving private facilities aside. The objective of this study was to assess MNM among women admitted in major private hospitals in eastern Ethiopia. METHODS: An institution based retrospective study was conducted from March 05 to 31, 2020 in two major private hospitals in Harar and Dire Dawa, eastern Ethiopia. The records of all women who were admitted during pregnancy, delivery or within 42 days of termination of pregnancy was reviewed for the presence of MNM criteria as per the sub-Saharan African MNM criteria. Descriptive analysis was done by computing proportion, ratio and means. Factors associated with MNM were assessed using binary logistic regression with adjusted odds ratio (aOR) along with its 95% confidence interval (CI). RESULTS: Of 1214 pregnant or postpartum women receiving care between January 09, 2019 and February 08, 2020, 111 women developed life-threatening conditions: 108 MNM and 3 maternal deaths. In the same period, 1173 live births were registered, resulting in an MNM ratio of 92.1 per 1000 live births. Anemia in the index pregnancy (aOR: 5.03; 95%CI: 3.12-8.13), having chronic hypertension (aOR: 3.13; 95% CI: 1.57-6.26), no antenatal care (aOR: 3.04; 95% CI: 1.58-5.83), being > 35 years old (aOR: 2.29; 95%CI: 1.22-4.29), and previous cesarean section (aOR: 4.48; 95% CI: 2.67-7.53) were significantly associated with MNM. CONCLUSIONS: Close to a tenth of women admitted to major private hospitals in eastern Ethiopia developed MNM. Women with anemia, history of cesarean section, and old age should be prioritized for preventing and managing MNM. Strengthening antenatal care and early screening of chronic conditions including hypertension is essential for preventing MNM.


Assuntos
Cesárea , Hospitais Privados/estatística & dados numéricos , Near Miss/estatística & dados numéricos , Hemorragia Pós-Parto , Complicações na Gravidez , Cuidado Pré-Natal/normas , Adulto , Cesárea/métodos , Cesárea/estatística & dados numéricos , Etiópia/epidemiologia , Feminino , Necessidades e Demandas de Serviços de Saúde , Humanos , Idade Materna , Hemorragia Pós-Parto/epidemiologia , Hemorragia Pós-Parto/terapia , Gravidez , Complicações na Gravidez/mortalidade , Complicações na Gravidez/terapia , Gravidez de Alto Risco , Diagnóstico Pré-Natal/métodos , Melhoria de Qualidade , Estudos Retrospectivos , Medição de Risco
9.
BMC Pregnancy Childbirth ; 21(1): 191, 2021 Mar 06.
Artigo em Inglês | MEDLINE | ID: mdl-33676438

RESUMO

BACKGROUND: Undocumented pregnant women constitute a vulnerable group of people who lack equal access to pregnancy care. Previous research has shown that undocumented migrants encounter difficulties in accessing health services, the onset of prenatal care is delayed, and women have an increased risk for infectious diseases. The aim of this study was to describe the use of maternal health care services and the obstetric outcomes of undocumented women in Helsinki, capital city of Finland, in addition to comparing the results with all pregnant women in Finland. METHODS: The study was a retrospective register-based study consisting of data collected between 2014 to 2018 from the electronic medical records of the public maternity clinic and maternity hospital in Helsinki, Finland. The study population consists of 62 individual pregnancies of undocumented women. The results of the study were compared with national data on parturients and deliveries (N = 47,274 women) and with prenatal screening tests for infectious diseases (N = 51,447 [HIV, HBV], N = 51,446 [syphilis]). RESULTS: The majority (91%) of the undocumented women attended public prenatal care. However, four women received no prenatal care and three women were denied access to care. Undocumented women entered prenatal care later and had fewer visits compared with all pregnant women. The majority (71%) of the undocumented women received inadequate prenatal care as the number of visits was less than eight. Of the study population, 5% (3/59) tested positive for HIV, 3% (2/59) for HBV, and 2% (1/57) for syphilis. The prevalence of HIV (p-value < 0.001) and HBV (p-value = 0.007) was significantly higher amongst undocumented women compared with all pregnant women. CONCLUSIONS: Undocumented women entered prenatal care later than recommended. Most women received inadequate prenatal care and some of them did not receive prenatal care at all. The prevalence of infectious diseases was significantly higher and the coverage of prenatal screenings deficient amongst undocumented pregnant women.


Assuntos
Serviços de Saúde Materna , Assistência Perinatal , Complicações Infecciosas na Gravidez , Diagnóstico Pré-Natal , Imigrantes Indocumentados/estatística & dados numéricos , Adulto , Feminino , Finlândia/epidemiologia , Acesso aos Serviços de Saúde/estatística & dados numéricos , Humanos , Serviços de Saúde Materna/normas , Serviços de Saúde Materna/estatística & dados numéricos , Aceitação pelo Paciente de Cuidados de Saúde , Assistência Perinatal/métodos , Assistência Perinatal/normas , Gravidez , Complicações Infecciosas na Gravidez/diagnóstico , Complicações Infecciosas na Gravidez/epidemiologia , Resultado da Gravidez/epidemiologia , Diagnóstico Pré-Natal/métodos , Diagnóstico Pré-Natal/estatística & dados numéricos , Prevalência , Populações Vulneráveis
10.
BMC Pregnancy Childbirth ; 21(1): 199, 2021 Mar 10.
Artigo em Inglês | MEDLINE | ID: mdl-33691645

RESUMO

BACKGROUND: Assessments of cortical development and identifying factors that may result in a poor prognosis for fetuses with isolated mild ventriculomegaly (IMVM) is a hot research topic. We aimed to perform a constant, detailed assessment of cortical development in IMVM fetuses using ultrasound and determine whether asymmetric cortical development occurred. Moreover, we aimed to estimate the prognosis of IMVM fetuses and compare the difference in the prognosis of IMVM fetuses presenting symmetric and asymmetric cortical maturation. METHODS: IMVM was diagnosed by regular ultrasound, neurosonography and fetal MRI. Genetic and TORCH examinations were conducted to exclude common genetic abnormalities and TORCH infection of fetuses. Ultrasound examinations were conducted at an interval of 2-3 weeks to record sulcus development in IMVM fetuses using a scoring system. The neonatal behavioral neurological assessment (NBNA), the Ages and Stages Questionnaire, Third Edition (ASQ-3) and the Bayley Scales of Infant Development, First Edition (BSID-I) were performed after birth. RESULTS: Forty fetuses with IMVM were included: twenty showed asymmetric cortical maturation and twenty showed symmetric cortical maturation. For IMVM fetuses presenting asymmetric cortical maturation, the mean gestational age (GA) at the first diagnosis of relatively delayed development was 24.23 weeks for the parieto-occipital sulcus, 24.71 weeks for the calcarine sulcus, and 26.43 weeks for the cingulate sulcus. All the sulci with delayed development underwent 'catch-up growth' and developed to the same grade as the sulci of the other hemisphere. The mean GA at which the two sides developed to the same grade was 29.40 weeks for the parieto-occipital sulcus, 29.30 weeks for the calcarine sulcus and 31.27 weeks for the cingulate sulcus. The NBNA, ASQ-3 and BSID-I scores of all patients were in the normal range. CONCLUSIONS: IMVM fetuses may show mild asymmetric cortical maturation in the second trimester, but the relatively delayed sulci undergo 'catch-up growth'. The neurodevelopment of IMVM fetuses presenting asymmetric cortical maturation and 'catch-up growth' is not statistically significantly different from IMVM fetuses presenting symmetric cortical maturation.


Assuntos
Córtex Cerebral , Desenvolvimento Fetal , Hidrocefalia/diagnóstico , Diagnóstico Pré-Natal/métodos , Adulto , Córtex Cerebral/diagnóstico por imagem , Córtex Cerebral/crescimento & desenvolvimento , China/epidemiologia , Feminino , Feto/diagnóstico por imagem , Idade Gestacional , Humanos , Hidrocefalia/epidemiologia , Imageamento por Ressonância Magnética/métodos , Gravidez , Prognóstico , Ultrassonografia Pré-Natal/métodos
11.
BMC Pregnancy Childbirth ; 21(1): 202, 2021 Mar 12.
Artigo em Inglês | MEDLINE | ID: mdl-33706701

RESUMO

BACKGROUND: Stillbirth is defined as fetal loss in pregnancy beyond 28 weeks by WHO. In this study, a machine-learning based method is proposed to predict stillbirth from livebirth and discriminate stillbirth before and during delivery and rank the features. METHOD: A two-step stack ensemble classifier is proposed for classifying the instances into stillbirth and livebirth at the first step and then, classifying stillbirth before delivery from stillbirth during the labor at the second step. The proposed SE has two consecutive layers including the same classifiers. The base classifiers in each layer are decision tree, Gradient boosting classifier, logistics regression, random forest and support vector machines which are trained independently and aggregated based on Vote boosting method. Moreover, a new feature ranking method is proposed in this study based on mean decrease accuracy, Gini Index and model coefficients to find high-ranked features. RESULTS: IMAN registry dataset is used in this study considering all births at or beyond 28th gestational week from 2016/04/01 to 2017/01/01 including 1,415,623 live birth and 5502 stillbirth cases. A combination of maternal demographic features, clinical history, fetal properties, delivery descriptors, environmental features, healthcare service provider descriptors and socio-demographic features are considered. The experimental results show that our proposed SE outperforms the compared classifiers with the average accuracy of 90%, sensitivity of 91%, specificity of 88%. The discrimination of the proposed SE is assessed and the average AUC of ±95%, CI of 90.51% ±1.08 and 90% ±1.12 is obtained on training dataset for model development and test dataset for external validation, respectively. The proposed SE is calibrated using isotopic nonparametric calibration method with the score of 0.07. The process is repeated 10,000 times and AUC of SE classifiers using random different training datasets as null distribution. The obtained p-value to assess the specificity of the proposed SE is 0.0126 which shows the significance of the proposed SE. CONCLUSIONS: Gestational age and fetal height are two most important features for discriminating livebirth from stillbirth. Moreover, hospital, province, delivery main cause, perinatal abnormality, miscarriage number and maternal age are the most important features for classifying stillbirth before and during delivery.


Assuntos
Estatura , Idade Gestacional , Aprendizado de Máquina , Diagnóstico Pré-Natal/métodos , Medição de Risco/métodos , Natimorto/epidemiologia , Adulto , Algoritmos , Estudos Transversais , Feminino , Humanos , Irã (Geográfico)/epidemiologia , Nascido Vivo/epidemiologia , Gravidez , Cuidado Pré-Natal/métodos , Prognóstico , Reprodutibilidade dos Testes
12.
BMC Pregnancy Childbirth ; 21(1): 204, 2021 Mar 12.
Artigo em Inglês | MEDLINE | ID: mdl-33711951

RESUMO

BACKGROUND: Premature delivery is among the leading causes of perinatal mortality and morbidity in developed societies, which is an important obstetrics problem. Maternal periodontitis is a prevalent condition that has been suspected to be associated with adverse pregnancy outcomes such as premature birth. However, there are still conflicting results about this possible relationship, therefore this study was designed to test the association between maternal periodontitis and premature birth. This study also provides information about a new screening tool recommended for use by nurses and midwives to screen for periodontal diseases during antenatal consultations in order to improve the health of mothers and children. METHODS: A retrospective case-control study was conducted at 12 health facilities in the Southern Province of Rwanda from February to August, 2018. A total of 555 women in the postpartum period were enrolled in the study. Cases and controls were enrolled in a ratio of 1:2; each enrolled case of preterm birth was followed by 2 unmatched control subjects that were next on the register and who delivered at term gestation. A total of 185 cases of preterm deliveries and 370 controls of term delivery were enrolled in the study. Multivariate regression analysis was used and the independent variables were hierarchically entered in three groups: The first group involved demographic variables that were put in the regression model as Step 1. The second group was made up of other potential risk factors that were placed in the regression model as the second step. Periodontitis was entered in the final regression step, as it was hypothesized as the main predictor variable. RESULTS: A statistically significant association was found between periodontitis and premature birth. Women who had periodontitis had 6 times the odds of giving birth to premature birth infants compared to women who had no periodontitis (OR: 6.360, 95% CI 3.9, 10.4). CONCLUSION: The study results indicate that periodontitis is strongly associated with premature birth. Preventive solutions including the use of a periodontitis screening tool for nurses and midwives during antenatal care consultations, are highly recommended.


Assuntos
Periodontite , Complicações na Gravidez , Nascimento Prematuro , Diagnóstico Pré-Natal/métodos , Medição de Risco , Adulto , Estudos de Casos e Controles , Correlação de Dados , Feminino , Humanos , Recém-Nascido Prematuro , Periodontite/diagnóstico , Periodontite/epidemiologia , Gravidez , Complicações na Gravidez/diagnóstico , Complicações na Gravidez/epidemiologia , Resultado da Gravidez/epidemiologia , Nascimento Prematuro/epidemiologia , Nascimento Prematuro/prevenção & controle , Cuidado Pré-Natal/métodos , Melhoria de Qualidade/organização & administração , Medição de Risco/métodos , Medição de Risco/estatística & dados numéricos , Fatores de Risco , Ruanda/epidemiologia
13.
JAMA Netw Open ; 4(3): e213538, 2021 03 01.
Artigo em Inglês | MEDLINE | ID: mdl-33779747

RESUMO

Importance: Prenatal diagnosis of complex congenital heart defects reduces mortality and morbidity in affected infants. However, fetal echocardiography can be limited by poor acoustic windows, and there is a need for improved diagnostic methods. Objective: To assess the clinical utility of fetal cardiovascular magnetic resonance imaging in cases in which fetal echocardiography could not visualize all relevant anatomy. Design, Setting, and Participants: This cohort study was conducted between January 20, 2017, and June 29, 2020, at Skåne University Hospital (Lund, Sweden), a tertiary center for pediatric cardiology and thoracic surgery. Participants were fetuses referred for fetal cardiovascular magnetic resonance examination by a pediatric cardiologist after an inconclusive echocardiograph. Exposures: Fetal cardiovascular magnetic resonance examination requested by the patient's pediatric cardiologist. Main Outcomes and Measures: Any change in patient management because of diagnostic information gained from fetal cardiovascular magnetic resonance imaging. Results: A total of 31 fetuses underwent cardiovascular magnetic resonance examination at a median gestational age of 36 weeks (range, 31-39 weeks). Overall, fetal cardiovascular magnetic resonance imaging had clinical utility, affecting patient management and/or parental counseling in 26 cases (84%). For aortic arch anatomy including signs of coarctation (20 fetuses), fetal cardiovascular magnetic resonance imaging added diagnostic information in 16 cases (80%). For assessment of univentricular vs biventricular outcome in borderline left ventricle, unbalanced atrioventricular septal defect, and pulmonary atresia with intact ventricular septum (15 fetuses), fetal cardiovascular magnetic resonance imaging visualized intracardiac anatomy and ventricular function, allowing assessment of outcome in 13 cases (87%). In 4 fetuses with hypoplastic left heart syndrome, fetal cardiovascular magnetic resonance imaging helped delivery planning in 3 cases (75%). Finally, fetal cardiovascular magnetic resonance imaging provided valuable information for parental counseling in 21 cases (68%). Conclusions and Relevance: In this cohort study, fetal cardiovascular magnetic resonance imaging added clinically useful information to what was available from echocardiography. These findings suggest that fetal CMR has the potential to affect clinical decision-making in challenging cases of congenital heart defects with inconclusive data from echocardiography. Fetal cardiovascular magnetic resonance imaging showed an association with clinical decision-making, including mode of delivery and early postnatal care, as well as with parental counseling.


Assuntos
Coração Fetal/diagnóstico por imagem , Cardiopatias Congênitas/diagnóstico , Imagem Cinética por Ressonância Magnética/estatística & dados numéricos , Diagnóstico Pré-Natal/métodos , Feminino , Seguimentos , Humanos , Gravidez , Reprodutibilidade dos Testes , Estudos Retrospectivos
14.
Medicine (Baltimore) ; 100(3): e23967, 2021 Jan 22.
Artigo em Inglês | MEDLINE | ID: mdl-33545980

RESUMO

ABSTRACT: Trisomy 9p is one of the most common chromosomal partial trisomies in newborns. However, reports on prenatal 9p microduplications are rare in the clinic. This study aimed to examine the genotype-phenotype correlation and assess the clinical significance of 9p24.3 microduplication encompassing the DOCK8 gene. Eight pregnant women underwent amniocentesis for cytogenetic and genetic testing for various indications for prenatal diagnosis from January 2019 to January 2020. Chromosomal karyotypic analysis was performed on G-band metaphases that were prepared from cultured amniotic fluid cells. Chromosomal microarray analysis was carried out to detect chromosomal copy number variations. We also performed a literature review on clinical data on similar 9p24.3 microduplications to determine the genotype-phenotype correlation. We detected 123-248-kb microduplications in the region of 9p24.3 (chr9: 208454-469022), involving part of or the entire DOCK8 gene. The indications for prenatal diagnosis mainly focused on the risk of maternal serum screening for trisomy 21/18, advanced maternal age, and increased nuchal translucency. No evident structural abnormalities were observed for all fetuses, except for case 5 who presented with increased nuchal translucency in prenatal ultrasound findings. Follow-up of postnatal health was performed and showed no apparent abnormalities for cases 1 to 6 after birth. The parents of case 7 chose to terminate the pregnancy while the parents of case 8 chose to continue the pregnancy. We propose that 9p24.3 microduplications that encompass part of or the entire DOCK8 gene are variants that might be benign. However, further large-scale studies are necessary to evaluate the clinical pathogenicity. For prenatal cases with 9p24.3 microduplication, postnatal health and growth should be followed up and assessed regularly from childhood to adulthood.


Assuntos
Fatores de Troca do Nucleotídeo Guanina/genética , Diagnóstico Pré-Natal/métodos , Adulto , Líquido Amniótico , Cromossomos Humanos Par 9/fisiologia , Variações do Número de Cópias de DNA , Feminino , Fatores de Troca do Nucleotídeo Guanina/análise , Humanos , Gravidez , Trissomia/fisiopatologia
15.
Medicine (Baltimore) ; 100(3): e24304, 2021 Jan 22.
Artigo em Inglês | MEDLINE | ID: mdl-33546057

RESUMO

BACKGROUND: Drugs that affect the renin-angiotensin system, such as angiotensin II receptor blockers (ARBs) and angiotensin-converting enzyme inhibitors are not typically recommended for pregnant women because of their potential fetal toxicity. CASE STUDY: A 32-year-old pregnant woman with nephrotic syndrome lasting more than 5 years became pregnant for the first time. She had been taking losartan tablets before and during pregnancy. Ultrasound at 24+2 weeks of pregnancy showed oligohydramnios, and the maximum vertical depth of amniotic fluid volume was 1.4 cm. Follow-up ultrasound examinations every 2 weeks showed persistent oligohydramnios [amniotic fluid volume: 1.1-3.4 cm, amniotic fluid index 1.9-6.9 cm]. B-ultrasound at 30+2 weeks showed slightly enhanced fetal renal cortex echo. The patient was treated at 32+2 weeks of pregnancy at our hospital. DIAGNOSES: Nephrotic syndrome and oligohydramnios. INTERVENTIONS: Losartan was discontinued and replaced by nifedipine controlled-release tablets to lower blood pressure. The amount of amniotic fluid gradually increased to normal levels within 8 days. The patient was discharged at 33+2 weeks of pregnancy for follow-up. At 34+4 weeks, blood pressure had increased to 177/113 mm Hg and the patient was re-hospitalized with nephrotic syndrome complicated by preeclampsia. Due to progression of severe preeclampsia, elective cesarean section was performed at 35+3 weeks. After delivery, losartan and nifedipine were prescribed to continue lowering blood pressure. The patient was discharged 4 days after surgery. OUTCOMES: Losartan use was terminated at 32+2 weeks of pregnancy. Amniotic fluid returned to normal after 8 days and the baby was delivered after 22 days. At last follow-up, the infant was 24 months old and healthy. CONCLUSION: Although ARBs are effective for treating hypertension, they should be replaced by other classes of anti-hypertensive drugs in pregnant women. Pregnant women who elect to continue using ARBs should be informed about risks, they should be carefully monitored during pregnancy, and their pregnancy should be allowed to proceed as long as clinically feasible in order to optimize maternal and infant outcomes.


Assuntos
Antagonistas de Receptores de Angiotensina/efeitos adversos , Oligo-Hidrâmnio/etiologia , Complicações na Gravidez/etiologia , Adulto , Antagonistas de Receptores de Angiotensina/uso terapêutico , Feminino , Humanos , Losartan/efeitos adversos , Losartan/uso terapêutico , Síndrome Nefrótica/tratamento farmacológico , Síndrome Nefrótica/fisiopatologia , Oligo-Hidrâmnio/diagnóstico por imagem , Gravidez , Complicações na Gravidez/diagnóstico , Diagnóstico Pré-Natal/métodos , Ultrassonografia/métodos
16.
Methods Mol Biol ; 2243: 227-248, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33606260

RESUMO

Noninvasive prenatal diagnosis (NIPD) is an emerging field, that enables testing for diseases in the fetus with no risk to the pregnancy, compared to invasive methods (e.g., amniocentesis). The procedure is based on the presence of fetal DNA within the mother's plasma cell-free DNA (cfDNA). Today, NIPD is performed for chromosomal abnormalities (e.g., Down syndrome) and some large deletions/duplications. It is also available for point mutations but is limited for one mutation or up to several genes simultaneously. Genome-wide detection of fetal point mutations was presented in a few studies, and the first software tool for this task, Hoobari, has recently become available. Here we describe the necessary steps in genome-wide noninvasive fetal genotyping, including examples using the Hoobari software. We discuss the various materials, software, computational infrastructure, and samples required for this analysis. Genome-wide analysis of point mutations in the fetus is not widely studied, albeit much space for algorithmic improvements exists. Here we suggest practical solutions for challenges along the process. Our work assists bioinformaticians in accessing NIPD data analysis and can eventually be utilized for other cfDNA-related fields.


Assuntos
Mutação INDEL/genética , Teste Pré-Natal não Invasivo/métodos , Polimorfismo de Nucleotídeo Único/genética , Diagnóstico Pré-Natal/métodos , Ácidos Nucleicos Livres/genética , Feminino , Feto/anormalidades , Genoma/genética , Estudo de Associação Genômica Ampla/métodos , Genótipo , Humanos , Mutação Puntual/genética , Gravidez
17.
Methods Mol Biol ; 2243: 249-269, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33606261

RESUMO

Noninvasive prenatal diagnosis (NIPD) has become a common, safe, and effective procedure for detection of inherited diseases early in pregnancy. It is based on the analysis of fetal cell-free DNA (cffDNA) derived from the placenta, circulating in the maternal plasma. De novo mutations, although rare, cause a considerable number of dominant genetic disorders. Due to the sparse representation of fetal-derived sequences in the blood, the challenge of detecting low frequency fetal de novo mutations becomes preponderant. Hence, this detection type requires deep genome-wide sequencing of cffDNA from maternal plasma and a unique analysis approach. Here we suggest and discuss a method for identifying de novo mutations based on whole genome sequencing (WGS) of cell-free DNA (cfDNA) from maternal plasma samples. Our method consists of an augmented pipeline for analysis of de novo mutation candidates. It begins with an enhanced noninvasive fetal variant calling step, followed by a candidate de novo mutation filtration, and then finally, a supervised machine learning approach is utilized for reduction of false positive rates. Overall, this study provides a basis for genome-wide de novo mutation analysis in NIPD procedures, which could be used in any procedure where rare de novo mutations should be carefully picked out of a sea of data.


Assuntos
Genoma/genética , Mutação/genética , Teste Pré-Natal não Invasivo/métodos , Diagnóstico Pré-Natal/métodos , Sequenciamento Completo do Genoma/métodos , Ácidos Nucleicos Livres/genética , Feminino , Feto/anormalidades , Testes Genéticos/métodos , Humanos , Gravidez
18.
BMC Pregnancy Childbirth ; 21(1): 94, 2021 Jan 28.
Artigo em Inglês | MEDLINE | ID: mdl-33509128

RESUMO

BACKGROUND: An increasing number of techniques have been used for prenatal diagnosis of genetic abnormalities. Our initial objective was to explore the value of the BACs-on-Beads (BoBs) assay for the prenatal diagnosis of aneuploidies and microdeletion/microduplication syndromes in Quanzhou, Southeast China. METHODS: A total of 1409 pregnant women with high-risk factors for chromosomal abnormalities admitted to Quanzhou Women's and Children's Hospital were enrolled in this study. BoBs assays and karyotype analyses were conducted for all subjects. Subsequently, chromosome microarray analysis (CMA) or fluorescence in situ hybridization (FISH) was performed to validate the findings. RESULTS: In this study, karyotype analysis and BoBs assay failed in 4 cases, and 2 cases, respectively. A total of 1403 cases were successfully analyzed, with success rates of 99.72% (1405/1409) and 99.85% (1407/1409) for karyotype analysis and Bobs assay, respectively. BoBs assay rapidly detected chromosomal aneuploidies in line with the karyotyping data. Additionally, 23 cases of microdeletions/microduplications were detected by BoBs assay but missed by karyotyping, including 22q11.2 microdeletions/microduplications, 5p15.32p15.33 microdeletion, Xp22.31 microdeletions/microduplications, Xq27.3 microdeletion, and Yp11.2 and Yq11.22q11.222 microduplication. In comparison with karyotyping, fewer mosaicisms were identified by BoBs assay. A high detection rate of chromosomal abnormalities was observed in the high-risk group during noninvasive prenatal testing (NIPT) (41.72%) and the abnormal ultrasound group (13.43%). CONCLUSIONS: BoBs assay can be used for the rapid and efficient prenatal diagnosis of common aneuploidies and microdeletion/microduplication syndromes. Moreover, the combined use of BoBs assay and karyotyping in prenatal diagnosis may allow for a more effective detection of chromosomal abnormalities.


Assuntos
Aberrações Cromossômicas/embriologia , Anormalidades Congênitas/diagnóstico , Anormalidades Congênitas/genética , Diagnóstico Pré-Natal/métodos , Adulto , China , Feminino , Idade Gestacional , Humanos , Hibridização in Situ Fluorescente , Cariotipagem , Masculino , Gravidez
19.
J Clin Ultrasound ; 49(1): 71-73, 2021 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-32447765

RESUMO

Situs inversus, a condition in which the major visceral organs are reversed from their normal positions in the body, can be detected by prenatal ultrasonography. Often benign, it may be associated with primary ciliary dyskinesia, an autosomal recessive disorder characterized by chronic respiratory disease. Yet, prenatal diagnosis of primary ciliary dyskinesia has not been reported. We describe a pregnancy in which situs inversus was diagnosed by fetal ultrasound at 20 weeks gestation. Prenatal testing for primary ciliary dyskinesia led to the discovery that both parents were asymptomatic carriers of a pathogenic mutation in the CCDC103 gene, with an affected neonate.


Assuntos
Dextrocardia/diagnóstico , Síndrome de Kartagener/diagnóstico , Diagnóstico Pré-Natal/métodos , Situs Inversus/diagnóstico , Ultrassonografia Pré-Natal/métodos , Adulto , Feminino , Humanos , Recém-Nascido , Gravidez
20.
Orv Hetil ; 161(52): 2195-2200, 2020 12 27.
Artigo em Húngaro | MEDLINE | ID: mdl-33361505

RESUMO

Összefoglaló. A septoopticus dysplasia, vagy más néven De Morsier-szindróma egy ritka, az agy középvonali képleteit érinto rendellenesség, mely a septum pellucidum hiányával, hypophysis-diszfunkcióval, látóideg-hypoplasiával és mentális visszamaradottsággal jár együtt. A septum pellucidum hiánya önmagában is elofordulhat izolált formában, de ennek septoopticus dysplasiától való praenatalis elkülönítése jelentos diagnosztikai kihívást jelent. Az izolált septum pellucidum hiány a kevés, rendelkezésünkre álló irodalmi adat alapján ártalmatlan anatómiai variáció. Esetbemutatásunkban a magas mágneses térerovel végzett magzati mágneses rezonancia (MR) képalkotó vizsgálat segítette az izolált septum pellucidum hiány septoopticus dysplasiától való elkülönítését azáltal, hogy lehetové tette a látóidegek és a chiasma pontosabb megítélését, valamint az esetleges egyéb agyi rendellenességek kizárását. A szülés utáni kétéves követési periódus alatt a gyermek normális szomatomentális fejlodést mutatott mindennemu hormonális és vizuális eltérés nélkül. Esetbemutatásunk megerosíti, hogy a septum pellucidum izolált hiánya önmagában lehet egy tünetmentes anatómiai variáció, melynek praenatalis diagnosztikai algoritmusában a vizuális traktus és az agyszerkezet pontosabb megítélése kapcsán a magas mágneses térerovel végzett magzati MR-vizsgálat kulcsfontosságú szerepet játszik, és lehetoséget biztosíthat a septoopticus dysplasia praenatalis kizárására. Orv Hetil. 2020; 161(52): 2195-2200. Summary. Septo-optic dysplasia is characterized as a midline anomaly with agenesis of the septum pellucidum, optic nerve hypoplasia and pituitary dysfunction. The septal agenesis can occur in isolated form, but its prenatal differentiation from septo-optic dysplasia can be challenging. The isolated agenesis of septum pellucidum is an asymptomatic anatomical variation, based on the few literature data available. We report a case where prenatally performed high magnetic field magnetic resonance imaging helped the differential diagnosis by visualizing and assessing thickness of the optic nerves and chiasma. The development of the infant was followed for 24 months and showed no abnormalities. Our case report confirms that isolated agenesis of the septum pellucidum is probably an asymptomatic variation and the visualization of the optic nerves with high magnetic field fetal MRI could be a crucial point of the differential diagnosis and provide possibility to exclude septo-optic dysplasia in utero. Orv Hetil. 2020; 161(52): 2195-2200.


Assuntos
Diagnóstico Pré-Natal/métodos , Septo Pelúcido/diagnóstico por imagem , Feminino , Humanos , Imageamento por Ressonância Magnética , Nervo Óptico/diagnóstico por imagem , Gravidez , Ultrassonografia
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