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1.
Am J Obstet Gynecol ; 226(2): 215-219, 2022 02.
Artigo em Inglês | MEDLINE | ID: mdl-34116039

RESUMO

The evolution of ultrasound and the introduction of 3- and 4-dimensional ultrasound techniques led to a shift in the perception and usage of ultrasound in fetal medicine. The biplane mode might help in multiple fetal procedures, including but not limited to basic intrauterine thoracocentesis, thoracoamniotic shunting, amnioreduction, amnioinfusion, cordocentesis, intraumbilical infusion, and umbilical cord coagulation, with a possible reduction in the complication rate. Despite its theoretical usefulness, more studies are required to assess the clinical importance of this technique.


Assuntos
Diagnóstico Pré-Natal/métodos , Ultrassonografia/métodos , Cordão Umbilical/diagnóstico por imagem , Cordocentese/métodos , Feminino , Humanos , Gravidez , Ultrassonografia Pré-Natal
2.
Front Immunol ; 12: 777927, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34790206

RESUMO

Background: Preterm infants are highly vulnerable to infectious disease. While many factors are likely to contribute to this enhanced susceptibility, the immature nature of the preterm immune system is postulated as one key factor. Methods: In our study, we used high-dimensional flow cytometry and cytokine assays to characterise the immune profiles in 25 preterm (range: 30.4-34.1 weeks gestational age) and 25 term infant (range: 37-40 weeks gestational age) cord blood samples. Results: We found that preterm infants exhibit reduced frequencies of monocytes, CD56bright NK cells, CD8+ T-cells, γδ T-cells and an increased frequency of intermediate monocytes, CD4+ T-cells, central memory CD4+ and CD8+ T-cells, Tregs and transitional B-cells compared to term infants. Pro-inflammatory cytokines IL-1ß, IL-6 and IL-17A were lower in preterm infants in addition to chemokines IL-8, eotaxin, MIP-1α and MIP-1ß. However, IL-15 and MCP-1 were higher in preterm infants. Conclusion: Overall, we identify key differences in pro-inflammatory immune profiles between preterm and term infants. These findings may help to explain why preterm infants are more susceptible to infectious disease during early life and facilitate the development of targeted interventions to protect this highly vulnerable group.


Assuntos
Citocinas/sangue , Sangue Fetal/imunologia , Recém-Nascido Prematuro/imunologia , Mediadores da Inflamação/sangue , Inflamação/imunologia , Linfócitos/imunologia , Monócitos/imunologia , Nascimento a Termo/imunologia , Imunidade Adaptativa , Biomarcadores/sangue , Cordocentese , Feminino , Sangue Fetal/citologia , Idade Gestacional , Humanos , Imunidade Inata , Recém-Nascido , Recém-Nascido Prematuro/sangue , Inflamação/sangue , Inflamação/diagnóstico , Peptídeos e Proteínas de Sinalização Intercelular/sangue , Masculino , Nascimento a Termo/sangue
3.
Am J Med Genet B Neuropsychiatr Genet ; 186(4): 228-241, 2021 06.
Artigo em Inglês | MEDLINE | ID: mdl-34170065

RESUMO

Low prosocial behavior in childhood has been consistently linked to later psychopathology, with evidence supporting the influence of both genetic and environmental factors on its development. Although neonatal DNA methylation (DNAm) has been found to prospectively associate with a range of psychological traits in childhood, its potential role in prosocial development has yet to be investigated. This study investigated prospective associations between cord blood DNAm at birth and low prosocial behavior within and across four longitudinal birth cohorts from the Pregnancy And Childhood Epigenetics (PACE) Consortium. We examined (a) developmental trajectories of "chronic-low" versus "typical" prosocial behavior across childhood in a case-control design (N = 2,095), and (b) continuous "low prosocial" scores at comparable cross-cohort time-points (N = 2,121). Meta-analyses were performed to examine differentially methylated positions and regions. At the cohort-specific level, three CpGs were found to associate with chronic low prosocial behavior; however, none of these associations was replicated in another cohort. Meta-analysis revealed no epigenome-wide significant CpGs or regions. Overall, we found no evidence for associations between DNAm patterns at birth and low prosocial behavior across childhood. Findings highlight the importance of employing multi-cohort approaches to replicate epigenetic associations and reduce the risk of false positive discoveries.


Assuntos
Altruísmo , Metilação de DNA/genética , Recém-Nascido/psicologia , Adolescente , Estudos de Casos e Controles , Criança , Pré-Escolar , Estudos de Coortes , Cordocentese/métodos , Ilhas de CpG/genética , Epigênese Genética/genética , Epigenoma/genética , Epigenômica/métodos , Feminino , Sangue Fetal/metabolismo , Estudo de Associação Genômica Ampla/métodos , Humanos , Recém-Nascido/metabolismo , Masculino
4.
Int J Obes (Lond) ; 45(9): 1958-1966, 2021 09.
Artigo em Inglês | MEDLINE | ID: mdl-34002037

RESUMO

BACKGROUND/OBJECTIVES: Genes involved in the regulation of metabolism, adipose tissue deposition, inflammation, and the appetite-satiety axis may play an important role in fetal development, and possibly induce permanent metabolic changes and fat accumulation. In this study we investigated: (1) obesity-related gene expression in maternal and cord blood of overweight/obese and normal-weight pregnant women; (2) associations between obesity-related gene expression in maternal and cord blood; and (3) associations of gene expression in each of maternal and cord blood with newborn adiposity. SUBJECTS/METHODS: Twenty-five overweight/obese and 32 normal-weight pregnant women were selected from the Araraquara Cohort Study according to their pre-pregnancy BMI. Maternal and cord blood gene expression of LEPR, STAT3, PPARG, TLR4, IL-6, IL-10, FTO, MC4R, TNF-α, and NFκB were investigated by relative real-time PCR quantification. The body composition of the newborns was assessed by air displacement plethysmography. Associations between maternal and cord blood gene expression and markers of newborn adiposity (weight, BMI, and fat mass%) were explored by linear regression models controlling for maternal age, pre-pregnancy BMI, maternal gestational weight gain, gestational age, and newborn sex. RESULTS: There was higher TLR4, NFκB, and TNF-a expression, and lower IL-6 expression, in overweight/obese pregnant women and their respective newborns compared with normal-weight women and their newborns (p < 0.001). Maternal PPARG gene expression was associated with both weight and fat mass % of the newborns, and cord blood IL-10 expression was associated with BMI and fat mass %, controlling for confounders. CONCLUSION: To our knowledge, this is the first study to evaluate the relationship of maternal and cord blood gene expression with adiposity markers of the newborn. Our results provide evidence for the contribution of maternal and cord blood gene expression-particularly maternal PPARG and TLR4 expression, and cord blood IL-10 expression-to newborn weight, BMI, and fat mass %.


Assuntos
Adiposidade/genética , Expressão Gênica/genética , Obesidade/genética , Adiposidade/fisiologia , Adulto , Brasil/epidemiologia , Estudos de Coortes , Cordocentese/métodos , Cordocentese/estatística & dados numéricos , Feminino , Expressão Gênica/fisiologia , Humanos , Recém-Nascido , Masculino , Mães/estatística & dados numéricos , Obesidade/sangue , Obesidade/fisiopatologia , Reação em Cadeia da Polimerase/métodos , Reação em Cadeia da Polimerase/estatística & dados numéricos , Estudos Prospectivos
5.
Life Sci Alliance ; 4(6)2021 06.
Artigo em Inglês | MEDLINE | ID: mdl-33837044

RESUMO

Environmental factors can induce detrimental consequences into adulthood life. In this study, we examined the epigenetic effects induced by in utero chlordecone (CD) exposure on human male cord blood as well as in blood-derived Ke-37 cell line. Genome-wide analysis of histone H3K4me3 distribution revealed that genes related to chromosome segregation, chromatin organization, and cell cycle have altered occupancy in their promoters. The affected regions were enriched in ESR1, SP family, and IKZF1 binding motifs. We also observed a global reduction in H3K9me3, markedly in repeated sequences of the genome. Decrease in H3K9me3 after CD exposure correlates with decreased methylation in LINE-1 promoters and telomere length extension. These observations on human cord blood were assessed in the Ke-37 human cell line. H3K4me3 and the expression of genes related to immune response, DNA repair, and chromatin organization, which were affected in human cord blood were also altered in CD-exposed Ke-37 cells. Our data suggest that developmental exposure to CD leads to profound changes in histone modification patterns and affects the processes controlled by them in human cord blood.


Assuntos
Clordecona/efeitos adversos , Sangue Fetal/metabolismo , Elementos Nucleotídeos Longos e Dispersos/efeitos dos fármacos , Linhagem Celular Tumoral , Clordecona/farmacologia , Cordocentese/métodos , Metilação de DNA/genética , Epigênese Genética/genética , Feminino , Sangue Fetal/efeitos dos fármacos , Código das Histonas/efeitos dos fármacos , Histonas/efeitos dos fármacos , Histonas/metabolismo , Humanos , Elementos Nucleotídeos Longos e Dispersos/genética , Masculino , Gravidez , Efeitos Tardios da Exposição Pré-Natal/metabolismo , Regiões Promotoras Genéticas/genética
6.
BMJ Case Rep ; 14(1)2021 Jan 11.
Artigo em Inglês | MEDLINE | ID: mdl-33431449

RESUMO

Congenital parvovirus B19 infection is a rare but serious condition that can result in hydrops fetalis and fetal death. Due to the virus' cytotoxic effect on fetal red blood cell precursors, postnatal infection can cause a neonatal viremia and secondary pure red cell aplasia. Here, we describe a case of congenital parvovirus infection in a preterm infant complicated by hydrops fetalis and chronic anaemia that responded to postnatal treatment with intravenous immunoglobulin administered on day of life 44. After treatment, the anaemia resolved as the neonate exhibited interval increases in haemoglobin, haematocrit and reticulocyte count with no subsequent need for red blood cell transfusions.


Assuntos
Anemia/terapia , Imunoglobulinas Intravenosas/administração & dosagem , Infecções por Parvoviridae/tratamento farmacológico , Parvovirus B19 Humano/isolamento & purificação , Complicações Infecciosas na Gravidez/diagnóstico , Adulto , Anemia/sangue , Anemia/virologia , Anticorpos Antivirais/sangue , Anticorpos Antivirais/imunologia , Cordocentese , Ecocardiografia , Transfusão de Eritrócitos , Feminino , Sangue Fetal/virologia , Ruptura Prematura de Membranas Fetais/virologia , Feto/diagnóstico por imagem , Feto/virologia , Humanos , Hidropisia Fetal/sangue , Hidropisia Fetal/diagnóstico , Hidropisia Fetal/terapia , Hidropisia Fetal/virologia , Imunoglobulina M/sangue , Imunoglobulina M/imunologia , Recém-Nascido , Recém-Nascido Prematuro , Transmissão Vertical de Doenças Infecciosas , Masculino , Infecções por Parvoviridae/complicações , Infecções por Parvoviridae/congênito , Infecções por Parvoviridae/transmissão , Parvovirus B19 Humano/imunologia , Poli-Hidrâmnios/diagnóstico , Poli-Hidrâmnios/virologia , Gravidez , Complicações Infecciosas na Gravidez/virologia , Resultado do Tratamento , Ultrassonografia Pré-Natal
7.
J Matern Fetal Neonatal Med ; 34(12): 1914-1918, 2021 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-31409164

RESUMO

OBJECTIVES: During cordocentesis, a significant risk factor for adverse outcome is procedure length. One of the greatest contributors to total procedure length is the time that elapses between obtaining a fetal sample and receiving the results of the complete blood count (CBC) from the hospital laboratory. We aimed to evaluate whether there is an advantage to using a point of care hemoglobinometer (HemoCue) compared with traditional CBC during cordocentesis, measured in time elapsing between obtaining fetal sample, and available result. Secondarily we aimed to compare accuracy of HemoCue in relation to traditional CBC. METHODS: A prospective cohort study was conducted on women undergoing cordocentesis and fetal transfusion for suspected fetal anemia from July 2016 to July 2018 at an urban academic medical center. Fetal blood samples were obtained during cordocentesis, and concurrently sent for traditional CBC, as well as immediately analyzed at bedside using a HemoCue machine. The time elapsing between the obtained fetal sample and availability of results with HemoCue versus traditional CBC were recorded. Primary outcome was time elapsed between obtaining fetal sample and result available for HemoCue versus traditional CBC. Secondary outcome was comparison of HemoCue and CBC hemoglobin values for accuracy. RESULTS: Forty-five fetal samples were compared using CBC and HemoCue. Sixteen cordocentesis procedures were performed on 10 patients during the study period. Use of HemoCue was associated with a significantly shorter time to yield a fetal hemoglobin result, compared to traditional CBC (1.5 versus 5.5 min, p = .0001). Results yielded by the HemoCue highly correlated to those yielded by traditional CBC (R = 0.96). CONCLUSIONS: Use of HemoCue during cordocentesis is associated with a 4-min time advantage over traditional CBC. Hemoglobin results yielded by HemoCue and traditional CBC are highly correlated.KEY MESSAGEUse of a point-of-care hemoglobinometer is associated with a time advantage of 4 min over traditional complete blood count during cordocentesis. This represents a potentially modifiable risk factor for procedure length, and thus procedure complications.


Assuntos
Anemia , Cordocentese , Contagem de Células Sanguíneas , Cordocentese/efeitos adversos , Feminino , Hemoglobinas/análise , Humanos , Estudos Prospectivos
9.
Cell Immunol ; 359: 104244, 2021 01.
Artigo em Inglês | MEDLINE | ID: mdl-33248366

RESUMO

Human Vγ9Vδ2 T cells respond to several diverse pathogens by sensing microbial cholesterol intermediates. Unlike CD4 T cells, they are poised for rapid Th1-like responses even before birth, which allows them to play a key role in the first line of defense against pathogens in early life. However, their regulation and functional maturation during infancy (in particular the acquisition of cytotoxic potential) remain understudied. We thus characterized their responses to cholesterol intermediates and Bacille Calmette-Guérin in a cohort of African neonates and 12-month-old infants. Infant Vδ2 lymphocytes exhibited intermediate or adult-like expression of markers associated with differentiation or function, intermediate proliferative responses, and adult-like cytotoxic potential. The enhancement of Vδ2 cell cytotoxic potential coincided with decreasing PD-1 and increasing NKG2A expression. Our results are consistent with the hypothesis that switching from a PD-1+ to a NKG2A+ phenotype during infancy indicates a shift in mechanisms regulating Vδ2 T cell function.


Assuntos
Sangue Fetal/citologia , Receptor de Morte Celular Programada 1/metabolismo , Receptores de Antígenos de Linfócitos T gama-delta/metabolismo , Adulto , Fatores Etários , Diferenciação Celular/fisiologia , Células Cultivadas , Cordocentese , Feminino , Expressão Gênica/genética , Humanos , Lactente , Recém-Nascido , Interferon gama/metabolismo , Ativação Linfocitária/imunologia , Malaui/epidemiologia , Masculino , Subfamília C de Receptores Semelhantes a Lectina de Células NK/imunologia , Subfamília C de Receptores Semelhantes a Lectina de Células NK/metabolismo , Receptor de Morte Celular Programada 1/genética , Receptores de Antígenos de Linfócitos T gama-delta/genética , Linfócitos T/imunologia
10.
J Paediatr Child Health ; 57(5): 611-617, 2021 05.
Artigo em Inglês | MEDLINE | ID: mdl-33171536

RESUMO

AIM: Phlebotomy losses greatly contribute to anaemia following preterm birth. Therefore, the possibility of drawing initial tests from the placenta seems attractive. There is a lack of literature regarding the feasibility and accuracy of pathology tests taken from umbilical arterial and venous (UAB/UVB) compared to blood collected from the newborn. METHODS: UAB and UVB complete blood pictures were compared with the initial neonatal blood test. The relationship between UAB, UVB and neonatal complete blood picture values was determined by Spearman's Rho correlation with absolute values compared by Kruskal-Wallis. P < 0.05 was considered significant. RESULTS: Neonatal haemoglobin, white cell count, immature/total ratio and platelets were significantly correlated to the corresponding values in the UAB and UVB (all P < 0.001). While UAB and UVB haemoglobin and white cell count were similar, both were significantly lower than the neonatal values (P < 0.001 and P = 0.014, respectively). No difference was seen for immature/total ratio and platelet concentrations. UVB blood culture (BC) was feasible (90%), even with delayed cord clamping, and the UVB BC volume was significantly higher (P < 0.001), with a low rate of BC contamination (1.5%). CONCLUSIONS: Our findings support the feasibility and accuracy of umbilical blood in place of blood collected from the newborn. This reduces the phlebotomy losses and allows higher blood volume collection which may increase the sensitivity of BC collection.


Assuntos
Cordocentese , Nascimento Prematuro , Estudos de Viabilidade , Feminino , Sangue Fetal , Humanos , Recém-Nascido , Laboratórios , Projetos Piloto , Gravidez , Cordão Umbilical
11.
J. obstet. gynaecol. Can ; 42(12): 1555-1562, Dec. 1, 2020.
Artigo em Inglês | BIGG - guias GRADE, BIGG - guias GRADE | ID: biblio-1146600

RESUMO

This revised guideline provides updated information for the care of women with chronic viral infections who require intrauterine fetal diagnostic testing. Women with chronic viral infections who are pregnant or planning a pregnancy. Non-invasive screening tests for diagnosis: maternal serum placental analytes with or without nuchal translucency, sonography, maternal serum cell-free placental DNA; and intrauterine fetal diagnostic testing: amniocentesis, chorionic villus sampling, cordocentesis. The recommendations in this guideline have the potential to decrease or eliminate morbidity and mortality in women with chronic viral infections and their infants, which is associated with significant health and economic outcomes. Published literature was retrieved through searches of PubMed, guidelines of national societies (Society of Obstetricians and Gynaecologists of Canada, American College of Obstetricians and Gynecologists, Society for Maternal-Fetal Medicine, other international societies), and the Cochrane Library using appropriate controlled vocabulary (amniocentesis, chorionic villus sampling, cordocentesis, procedure pregnancy loss risk, viral vertical transmission, fetal and neonatal infection) and keywords (maternal infection or exposure, hepatitis B, hepatitis C, human immunodeficiency virus). Results were restricted to systematic reviews, randomized controlled trials or controlled clinical trials (if available), and observational case-control studies or case series from 2012 to 2019 published in English or French. Studies from 1966 to 2002 were previously reviewed in the SOGC guideline No. 123: Amniocentesis and Women with Hepatitis B, Hepatitis C, or Human Immunodeficiency Virus, and those from 2002 to 2012 were previously reviewed in the SOGC guideline No. 309: Prenatal Invasive Procedures in Women With Hepatitis B, Hepatitis C, and/or Human Immunodeficiency Virus Infections. Updated literature searches were completed regularly through August 2019 and were incorporated into this guideline. The authors rated the quality of evidence and strength of recommendations using the Grading of Recommendations Assessment, Development and Evaluation (GRADE) approach. See online Appendix A (Tables A1 for definitions and A2 for interpretations of strong and weak recommendations). The intended users are maternity care providers and women with chronic viral infections. This guideline provides information to educate and counsel these women, and to offer them reproductive options.


Assuntos
Humanos , Feminino , Gravidez , Adulto , Complicações Infecciosas na Gravidez/diagnóstico , Diagnóstico Pré-Natal/métodos , Cordocentese , Medição da Translucência Nucal , Desenvolvimento Fetal/fisiologia , Amniocentese , HIV , Hepatite C/diagnóstico , Hepatite B/diagnóstico
12.
Biosci Rep ; 40(12)2020 12 23.
Artigo em Inglês | MEDLINE | ID: mdl-33245095

RESUMO

Iron stores at birth are essential to meet iron needs during the first 4-6 months of life. The present study aimed to investigate iron stores in normal birth weight, healthy, term neonates. Umbilical cord blood samples were collected from apparently normal singleton vaginal deliveries (n=854). Subjects were screened and excluded if C-reactive protein (CRP) > 5 mg/l or α1-acid glycoprotein (AGP) > 1 g/l, preterm (<37 complete weeks), term < 2500g or term > 4000g. In total, 762 samples were included in the study. Serum ferritin, soluble transferrin receptor (sTfR), hepcidin, and erythropoietin (EPO) were measured in umbilical cord blood samples; total body iron (TBI) (mg/kg) was calculated using sTfR and ferritin concentrations. A total of 19.8% newborns were iron deficient (ferritin 35 µg/l) and an additional 46.6% had insufficient iron stores (ferritin < 76 µg/l). There was a positive association between serum ferritin and sTfR, hepcidin, and EPO. Gestational age was positively associated with ferritin, sTfR, EPO, and hepcidin. In conclusion, we demonstrate a high prevalence of insufficient iron stores in a Chinese birth cohort. The value of cord sTfR and TBI in the assessment of iron status in the newborn is questionable, and reference ranges need to be established.


Assuntos
Eritropoetina/sangue , Ferritinas/sangue , Sangue Fetal/química , Hepcidinas/sangue , Inflamação/diagnóstico , Ferro/metabolismo , Receptores da Transferrina/sangue , Adulto , Biomarcadores/sangue , Peso ao Nascer , Proteína C-Reativa/análise , Cordocentese , Feminino , Idade Gestacional , Humanos , Recém-Nascido , Inflamação/sangue , Mediadores da Inflamação/sangue , Orosomucoide/análise , Gravidez
13.
Medicine (Baltimore) ; 99(46): e22722, 2020 Nov 13.
Artigo em Inglês | MEDLINE | ID: mdl-33181648

RESUMO

In general terms, fetal growth restriction (FGR) is considered the impossibility of achieving the genetically determined potential size. In the vast majority of cases, it is related to uteroplacental insufficiency. Although its origin remains unknown and causes are only known in 30% of cases, it is believed to be related to an interaction of environmental and genetic factors with either a fetal or maternal origin. One hypothesis is that alterations in the gastrointestinal microbiota composition, and thus alteration in the immune response, could play a role in FGR development. We performed an observational, prospective study in a subpopulation affected with FGR to elucidate the implications of this microbiota on the FGR condition.A total of 63 fetuses with FGR diagnosed in the third trimester as defined by the Delphi consensus, and 63 fetuses with fetal growth appropriate for gestational age will be recruited. Obstetric and nutritional information will be registered by means of specific questionnaires. We will collect maternal fecal samples between 30 to 36 weeks, intrapartum samples (maternal feces, maternal and cord blood) and postpartum samples (meconium and new-born feces at 6 weeks of life). Samples will be analyzed in the Department of Biochemistry and Molecular Biology II, Nutrition and Food Technology Institute of the University of Granada (UGR), for the determination of the gastrointestinal microbiota composition and its relationship with inflammatory biomarkers.This study will contribute to a better understanding of the influence of gastrointestinal microbiota and related inflammatory biomarkers in the development of FGR.Trial registration: NCT04047966. Registered August 7, 2019, during the recruitment stage. Retrospectively registered. Ongoing research.


Assuntos
Retardo do Crescimento Fetal/imunologia , Feto/imunologia , Microbiota/imunologia , Gestantes , Adulto , Biomarcadores/análise , Estudos de Casos e Controles , Cordocentese/métodos , Técnica Delfos , Feminino , Desenvolvimento Fetal/imunologia , Desenvolvimento Fetal/fisiologia , Feto/fisiopatologia , Idade Gestacional , Humanos , Microbiota/fisiologia , Gravidez , Estudos Prospectivos , Espanha
15.
Biosci Rep ; 40(11)2020 11 27.
Artigo em Inglês | MEDLINE | ID: mdl-33146699

RESUMO

Circular RNA (circRNA) is a novel member of endogenous noncoding RNAs with widespread distribution and diverse cellular functions. Recently, circRNAs have been identified for their enrichment and stability in exosomes. However, the roles of circRNAs from umbilical cord blood exosomes in gestational diabetes mellitus (GDM) occurrence and fetus growth remains poorly understood. In the present study, we used microarray technology to construct a comparative circRNA profiling of umbilical cord blood exosomes between GDM patients and controls. We found the exosome particle size was larger, and the exosome concentration was higher in the GDM patients. A total of 88,371 circRNAs in umbilical cord blood exosomes from two groups were evaluated. Of these, 229 circRNAs were significantly up-regulated and 278 circRNAs were significantly down-regulated in the GDM patients. Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) biological pathway analyses demonstrated that circRNA parental genes involved in the regulation of metabolic process, growth and development were significantly enriched, which are important in GDM development and fetus growth. Further circRNA/miRNA interactions analysis showed that most of the exosomal circRNAs harbored miRNA binding sites, and some miRNAs were associated with GDM. Collectively, these results lay a foundation for extensive studies on the role of exosomal circRNAs in GDM development and fetus growth.


Assuntos
MicroRNA Circulante/genética , Diabetes Gestacional/genética , Exossomos/genética , Sangue Fetal/química , RNA Circular/genética , Transcriptoma , Adulto , Estudos de Casos e Controles , MicroRNA Circulante/sangue , Cordocentese , Diabetes Gestacional/sangue , Diabetes Gestacional/diagnóstico , Feminino , Perfilação da Expressão Gênica , Redes Reguladoras de Genes , Humanos , Análise de Sequência com Séries de Oligonucleotídeos , Gravidez , RNA Circular/sangue , Adulto Jovem
16.
Taiwan J Obstet Gynecol ; 59(5): 754-757, 2020 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-32917331

RESUMO

OBJECTIVE: We present perinatal molecular cytogenetic analysis of low-level mosaicism for trisomy 21 in a pregnancy with maternal uniparental disomy (UPD) of chromosome 21 in the fetus. CASE REPORT: A 39-year-old woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 47,XX,+21[6]/46,XX[25]. Simultaneous array comparative genomic hybridization (aCGH) analysis on the DNA extracted from uncultured amniocytes revealed arr (21) × 2-3, (X) × 2 with about 18% gene dosage increase in chromosome 21 consistent with mosaic trisomy 21. Cordocentesis was performed at 20 weeks of gestation, and the cord blood lymphocytes had a karyotype of 47,XX,+21[3]/46,XX[72]. Prenatal ultrasound findings were unremarkable. After genetic counseling, the parents decided to continue the pregnancy. At 39 weeks of gestation, a 3,494-g phenotypically normal female baby was delivered without phenotypic features of Down syndrome. There was no dysplasia of middle phalanx of the fifth fingers of both hands. The cord blood had a karyotype of 47,XX,+21[2]/46,XX[48]. The placenta had a karyotype of 47,XX,+21[37]/46,XX[3]. The umbilical cord had a karyotype of 47,XX,+21[1]/46,XX[39]. aCGH analysis on the DNA extracted from cord blood revealed no genomic imbalance. Polymorphic DNA marker analysis on the DNAs extracted from cord blood and parental bloods revealed maternal uniparental heterodisomy 21 in the baby. Interphase fluorescence in situ hybridization analysis on buccal mucosal cells revealed trisomy 21 signals in 15/101 (14.9%) buccal cells at birth and in 1/122 (0.82%) buccal cells at age 45 days. CONCLUSION: Low-level mosaicism for trisomy 21 at amniocentesis associated with maternal UPD 21 in the fetus can have a favorable outcome.


Assuntos
Amniocentese , Síndrome de Down/diagnóstico , Dissomia Uniparental/diagnóstico , Adulto , Cordocentese , Análise Citogenética , Síndrome de Down/genética , Feminino , Humanos , Recém-Nascido , Mosaicismo , Gravidez
17.
Aging (Albany NY) ; 12(15): 15556-15565, 2020 08 15.
Artigo em Inglês | MEDLINE | ID: mdl-32805723

RESUMO

Because the numbers of detected fetal abnormalities increase as gestation progresses, we evaluated the safety and efficacy of cordocentesis for single nucleotide polymorphism (SNP) analysis tests in 754 women during third trimester pregnancy. Conventional karyotyping was performed on all fetuses, and Affymetrix CytoScan HD was used for SNP-array testing. In addition to the 24 cases with chromosomal abnormalities detected with conventional karyotyping analysis, the SNP-array test identified 56 (7.4%) cases with normal karyotypes but abnormal copy number variations (CNVs). Of those, 24 were pathogenic CNVs and 32 were of uncertain clinical significance. In 742 of the cases, there were abnormal sonographic findings, and cytogenetic abnormalities were detected in 76 cases (10.2%). The largest number of abnormalities involved multiple malformations (21.7%), followed by defects in the lymphatics or effusion (19.0%) or urogenital system (15.3%). The use of SNP-array test fully complemented chromosome karyotype analysis after late cordocentesis. It also improved the detection rate for fetal chromosomal abnormalities and was effective for preventing and controlling the occurrence of birth defects.


Assuntos
Aberrações Cromossômicas , Anormalidades Congênitas/diagnóstico , Cordocentese , Variações do Número de Cópias de DNA , Dosagem de Genes , Testes Genéticos , Polimorfismo de Nucleotídeo Único , Diagnóstico Pré-Natal , Aborto Induzido , Adulto , Anormalidades Congênitas/genética , Feminino , Predisposição Genética para Doença , Humanos , Cariótipo , Cariotipagem , Pessoa de Meia-Idade , Valor Preditivo dos Testes , Gravidez , Terceiro Trimestre da Gravidez , Ultrassonografia Pré-Natal , Adulto Jovem
18.
Ultrasound Obstet Gynecol ; 56(5): 664-671, 2020 11.
Artigo em Inglês | MEDLINE | ID: mdl-31975486

RESUMO

OBJECTIVES: To identify procedural risk factors associated with fetal loss following cordocentesis and to determine the rate of cordocentesis-related fetal loss associated with the current cordocentesis protocol used in our institution. METHODS: This was a retrospective cohort study of pregnancies that underwent midpregnancy cordocentesis in a single center (a tertiary hospital, teaching school), between 1992 and 2018, based on data retrieved from our prospective database. All consecutive cases were validated to retrieve those meeting the eligibility criteria, which included: singleton pregnancy without underlying maternal disease, normal fetus (no structural or chromosomal abnormality or severe disorder), gestational age between 16 and 24 weeks at the time of the procedure and availability of pregnancy outcome. Cases that resulted in termination of pregnancy were excluded. We assessed the effect of prior cordocentesis model training on the fetal-loss rate and procedure-related complications, and evaluated potential risk factors of fetal loss secondary to cordocentesis, including procedure difficulty, placenta penetration, prolonged bleeding, fetal bradycardia, puncture site and early gestational age at procedure. Pregnancy outcomes were compared between the study group and a control group of women, who did not undergo cordocentesis, selected randomly at a 1:1 ratio from our obstetric database. RESULTS: A total of 10 343 procedures were performed during the study period, of which 6650 met the eligibility criteria and were included in the analysis. The fetal-loss rate in the first 60 procedures (early practice) of six operators (n = 360 procedures), who did not have prior model training, was significantly higher than that during the early practice of 18 operators (n = 1080 procedures) with prior model training (6.9% vs 1.6%; P < 0.001); whereas the fetal-loss rate in the next 60 procedures of practice was comparable between the two groups. After excluding the first 360 procedures of the groups without prior model training, the overall fetal-loss rate in pregnancies that underwent cordocentesis was significantly higher than that in the control group (1.6% vs 1.0%; P < 0.001). Considering the fetal-loss rate in the normal controls as background loss, the incremental cordocentesis-associated fetal-loss rate was 0.6%. Penetration of the placenta (odds ratio (OR), 2.65 (95% CI, 1.71-4.10)), prolonged bleeding from the puncture site (OR, 10.85 (95% CI, 5.27-22.36)) and presence of fetal bradycardia (OR, 3.32 (95% CI, 1.83-6.04)) during cordocentesis were independent risk factors associated with fetal loss. CONCLUSIONS: Cordocentesis model training markedly reduces fetal loss during the early learning curve of practice. Thus, cordocentesis practice without prior model training should not be acceptable. Significant procedural risk factors for fetal loss secondary to cordocentesis are placental penetration, prolonged bleeding and fetal bradycardia. Cordocentesis-related fetal loss may be only 0.6%, much lower than the rate reported previously. Copyright © 2020 ISUOG. Published by John Wiley & Sons Ltd.


Assuntos
Aborto Espontâneo/epidemiologia , Aborto Espontâneo/etiologia , Cordocentese/efeitos adversos , Adulto , Estudos de Casos e Controles , Bases de Dados Factuais , Feminino , Idade Gestacional , Humanos , Razão de Chances , Placenta/lesões , Gravidez , Resultado da Gravidez , Estudos Prospectivos , Estudos Retrospectivos , Fatores de Risco
19.
Am J Obstet Gynecol ; 222(2): 185.e1-185.e17, 2020 02.
Artigo em Inglês | MEDLINE | ID: mdl-31394068

RESUMO

BACKGROUND: Thalassemia is one of the most common monogenetic diseases in the south of China and Southeast Asia. Hemoglobin Bart's hydrops fetalis syndrome was caused by a homozygous Southeast Asian deletion (-/-) in the HBA gene. Few studies have proved the potential of screen for Bart's hydrops fetalis using fetal cell-free DNA. However, the number of cases is still relatively small. Clinical trials of large samples would be needed. OBJECTIVE: In this study, we aimed to develop a noninvasive method of target-captured sequencing and genotyping by the Bayesian method using cell-free fetal DNA to identify the fetal genotype in pregnant women who are at risk of having hemoglobin Bart hydrops fetalis in a large-scale study. STUDY DESIGN: In total, 192,173 couples from 30 hospitals were enrolled in our study and 878 couples were recruited, among whom both the pregnant women and their husbands were detected to be carriers of Southeast Asian type (-/αα) of α-thalassemia. Prenatal diagnosis was performed by chorionic villus sampling, amniocentesis, or cordocentesis using gap-polymerase chain reaction considered as the golden standard. RESULTS: As a result, we found that the sensitivity and specificity of our noninvasive method were 98.81% and 94.72%, respectively, in the training set as well as 100% and 99.31%, respectively, in the testing set. Moreover, our method could identify all of 885 maternal samples with the Southeast Asian carrier and 36 trisomy samples with 100% of sensitivity in T13, T18, and T21 and 99.89% (1 of 917) and 99.88% (1 of 888) of specificity in T18 and T21, respectively. CONCLUSION: Our method opens the possibility of early screening for maternal genotyping of α-thalassemia, fetal aneuploidies in chromosomes 13/18/21, and hemoglobin Bart hydrops fetalis detection in 1 tube of maternal plasma.


Assuntos
Hemoglobinas Anormais/genética , Hidropisia Fetal/diagnóstico , Amniocentese , Teorema de Bayes , Ácidos Nucleicos Livres , Amostra da Vilosidade Coriônica , Cordocentese , Síndrome de Down/diagnóstico , Feminino , Genótipo , Heterozigoto , Humanos , Hidropisia Fetal/genética , Teste Pré-Natal não Invasivo , Gravidez , Sensibilidade e Especificidade , Síndrome da Trissomia do Cromossomo 13/diagnóstico , Síndrome da Trissomía do Cromossomo 18/diagnóstico , Talassemia alfa/diagnóstico , Talassemia alfa/genética
20.
J Obstet Gynaecol Res ; 45(12): 2456-2460, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31502338

RESUMO

Congenital hemangioma is a rare vascular tumor that develops prenatally, and a large congenital hemangioma may be accompanied by the Kasabach-Merritt phenomenon. We present a case of prenatally diagnosed fetal congenital hemangioma through ultrasound and maternal anti-Jr(a) antibody alloimmunization with elevated middle cerebral artery peak systolic velocity. To investigate fetal anemia and hemostatic condition, we performed percutaneous umbilical blood sampling, which revealed no symptom of either Kasabach-Merritt phenomenon or sensitization to anti-Jr(a) antibody. Consequently, pregnancy could be continued without further intervention. After birth, congenital hemangioma was found on the infant's left thigh, and Kasabach-Merritt phenomenon was not shown. Percutaneous umbilical blood sampling could provide precise information prenatally in case of congenital hemangioma with maternal alloimmunization.


Assuntos
Hemangioma/diagnóstico , Síndrome de Kasabach-Merritt/diagnóstico , Artéria Cerebral Média/fisiopatologia , Diagnóstico Pré-Natal , Adulto , Cordocentese , Feminino , Hemangioma/congênito , Humanos , Gravidez , Sístole/fisiologia
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