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1.
BJOG ; 130(11): 1395-1402, 2023 10.
Artigo em Inglês | MEDLINE | ID: mdl-37039247

RESUMO

OBJECTIVE: To report obstetric outcomes in pregnant women with previous pelvic ring injury (PRI) and investigate the correlation between residual pelvic deformity and the mode of delivery. DESIGN: Retrospective cohort study. SETTING: Single medical centre in Taiwan. POPULATION: Forty-one women with PRI histories from 2000 to 2021 who subsequently underwent pregnancy and delivery. METHODS: All patients had complete PRI treatment and radiological follow up for at least 1 year. The demographic data, radiological outcomes after PRI and obstetric outcomes were collected to investigate the potential factors of delivery modes using non-parametric approaches and logistic regression. Caesarean section (CS) rates among different subgroups were reported. MAIN OUTCOME MEASURES: Comparisons of demographic data and radiological outcomes (Matta/Tornetta criteria and Lefaivre criteria) after PRI among patients who had subsequent pregnancy and underwent vaginal deliveries (VD) or CS. RESULTS: There were 14 VD and 27 CS in 41 patients. Nine patients underwent CS because of their PRI history, 12 patients underwent CS for other obstetric indications and 20 underwent trial of labour. Based on the logistic regression model, retained trans-iliosacral implants did not significantly increase the risk of CS (odds ratio [OR] 1.20; 95% CI 0.17-8.38). Higher pelvic asymmetry value by Lefaivre criteria was a potential risk factor for CS after previous PRI (OR 1.52; 95% CI 1.043-2.213). CONCLUSIONS: VD is possible after PRI. Retained trans-iliosacral implants do not affect the delivery outcome. Residual pelvic asymmetry after PRI by Lefaivre criteria is a potential risk factor for CS.


Assuntos
Cesárea , Parto Obstétrico , Feminino , Gravidez , Humanos , Cesárea/efeitos adversos , Estudos Retrospectivos , Parto Obstétrico/efeitos adversos , Fatores de Risco , Taiwan/epidemiologia
2.
J Hepatol ; 77(1): 63-70, 2022 07.
Artigo em Inglês | MEDLINE | ID: mdl-35176439

RESUMO

BACKGROUND & AIMS: In the Taiwanese population born in the universal vaccination era, HBsAg carrier rates have fallen below 2%, while approximately 5% develop occult hepatitis B infection (OBI). However, the potential for transmission from mothers with OBI to their infants has not been well studied. We aimed to investigate whether mothers with OBI could transmit HBV to their babies. METHODS: A total of 253 pregnant women who were born after July 1986 and had been fully vaccinated against HBV during infancy were recruited from a tertiary hospital in Northern Taiwan. HBV serology and DNA levels were determined. Babies born to mothers with OBI were followed-up until 1 year of age. The surface genes were sequenced. RESULTS: HBV infection was documented in 18 vaccinated mothers, 2 of whom were HBsAg-reactive (0.79 %). Seventeen were positive for HBV DNA, among whom 16 (6.32%) presented with OBI with a median DNA level of 145 IU/ml (interquartile range: 37.8-657.3 IU/ml). Eleven babies born to 10 mothers with OBI were recruited. Three babies were HBsAg-reactive, and 2 were positive for HBV DNA (17.0 and 212.0 IU/ml). Seven mothers with OBI carried multiple surface gene variants. Two transiently infected babies harbored variants originating from their mother's HBV quasi-species. All infants received complete hepatitis B vaccines. At 12 months of age, none of the babies were positive for HBsAg or HBV DNA. CONCLUSIONS: It was possible for mothers with OBI to transmit HBV to their babies, who consequently harbored surface gene variants originating from their mothers' minor variants. Viremia was cleared 1 year after completing the hepatitis B vaccination series. LAY SUMMARY: Since initiating the hepatitis B vaccination program in Taiwan, the rate of young individuals (i.e. born after 1986) carrying the HBV surface antigen has fallen below 2%, although around 5% of vaccinated individuals develop occult HBV infections. Herein, we show that pregnant mothers with occult HBV infections can transmit HBV to their offspring. However, no infant had sustained infection at 1 year of age having completed a full HBV vaccination series.


Assuntos
Antígenos de Superfície da Hepatite B , Hepatite B , DNA Viral/genética , Feminino , Hepatite B/epidemiologia , Hepatite B/prevenção & controle , Anticorpos Anti-Hepatite B , Vacinas contra Hepatite B , Vírus da Hepatite B/genética , Humanos , Lactente , Transmissão Vertical de Doenças Infecciosas/prevenção & controle , Mães , Gravidez , Taiwan/epidemiologia
3.
BMC Pregnancy Childbirth ; 22(1): 326, 2022 Apr 15.
Artigo em Inglês | MEDLINE | ID: mdl-35428218

RESUMO

BACKGROUND: Right ventricular outflow tract obstruction (RVOTO) is the most frequently encountered congenital heart disease in patients with twin -twin transfusion syndrome (TTTS) and is especially prevalent in the recipient twin. In this retrospective study, we evaluated the incidence, prognosis, postnatal management, and perinatal outcomes of and risk factors for RVOTO in the recipient twin in severe TTTS cases which diagnosed before 26 weeks after fetoscopic laser photocoagulation (FLP) at a single center in Taiwan. METHODS: RVOTO was diagnosed using fetal or postnatal echocardiography. The fetal outcomes evaluated were perinatal survival rate, neonatal brain image anomalies rate, gestational age at delivery, and birth weight. RESULTS: Total 187 severe TTTS cases were included; 14 (7.49%) had a recipient twin with RVOTO (12 cases of pulmonary stenosis and 2 of pulmonary atresia). Of these 14 cases, 3 (21.4%) demonstrated improvements in outflow obstruction after FLP, and 11 (78.6%) resulted in perinatal survival. Of the 11 survivors, 5 (45.5%) received transcatheter balloon valvuloplasty to alleviate the RVOTO. The perinatal survival rate, gestational age at delivery, neonatal brain image anomaly rate, and birth weights did not significantly differ between the groups in which the recipient twin had versus did not have RVOTO. Generally, the recipient twin had RVOTO received FLP at a younger gestational age (in weeks; 19.3 ± 2.4 vs. 20.7 ± 2.6, p = 0.048) and had a higher percentage of cases at Quintero stage IV (50.0% vs. 12.1%, p < 0.001) than those in which the recipient twin did not have with RVOTO. Using logistic regression, we discovered that FLP at a younger gestational age (p = 0.046, odds ratio = 0.779) and TTTS at Quintero stage IV (p = 0.001, odds ratio = 7.206) were risk factors for the recipient twin developing RVOTO after FLP in severe TTTS cases. CONCLUSIONS: The post-FLP perinatal outcomes of cases of severe TTTS in which the recipient twin had versus did not have RVOTO were comparable in this study, which may have been due to the similar gestational ages at delivery and strong influence of high Quintero stages (stages III and IV).


Assuntos
Transfusão Feto-Fetal , Cardiopatias Congênitas , Feminino , Transfusão Feto-Fetal/epidemiologia , Transfusão Feto-Fetal/cirurgia , Idade Gestacional , Cardiopatias Congênitas/cirurgia , Humanos , Incidência , Recém-Nascido , Lasers , Fotocoagulação , Gravidez , Gravidez de Gêmeos , Prognóstico , Estudos Retrospectivos , Fatores de Risco
4.
BMC Pregnancy Childbirth ; 21(1): 260, 2021 Mar 27.
Artigo em Inglês | MEDLINE | ID: mdl-33773574

RESUMO

BACKGROUND: In monochorionic twin (MC) gestations with selective fetal growth restriction (FGR), the discordant fetal growth usually is due to unequal placental sharing. Glucose, which is essential for oxidative metabolism in the growing placenta and fetus, is transferred from maternal blood by facilitated carrier-mediated diffusion via glucose transporters (GLUTs). How the GLUTs expression varies in the two placenta territories manifests discordant perfusion in MC twin pregnancy with selective FGR is unknown. This study evaluates the human placental GLUT1 and GLUT3 gene expression in MC twin gestations with selective FGR. METHODS: MC twin pregnancy with selective FGR was defined as the presence of inter-twin birth weight discordance of > 25% and the smaller twin with a birth weight less than the 10th percentile in third trimester. Fetal umbilical artery Doppler was checked within 1 week before delivery in the two fetuses. An abnormal umbilical artery Doppler was defined as persistently absent or reverse end-diastolic flow (UA-AREDF). GLUT1, GLUT3 and HIF-1α gene expression were assayed in each twin's placental territories. The inter-twin placental gene expression ratio was calculated as the placenta GLUTs or HIF-1α expression level of the selective FGR twin divided by expression level of the appropriate-for-gestational-age (AGA) cotwin. Higher gene expression ratio means elevated gene expression in the selective FGR twin's placenta territory compared to AGA twin's placenta territory. RESULTS: 15 MC twin gestations with selective FGR including nine with normal (group 1) and six with abnormal selective FGR twin UA Doppler (group 2) were included into this study. The GLUT3 and HIF-1α gene expression are significantly elevated in selective FGR twin's placenta territory in group 2 twin pregnancies (mean gene expression ratio as 2.23 and 1.65, p values as 0.015 and 0.045, respectively), but not in in group 1 twin pregnancies. CONCLUSION: The upregulation of placental GLUT3 gene expression in selective FGR fetus with abnormal UA Doppler may be due to hypo-perfusion which is mediated by up -regulation of HIF-1α gene expression.


Assuntos
Retardo do Crescimento Fetal/genética , Transportador de Glucose Tipo 1/genética , Transportador de Glucose Tipo 3/genética , Placenta/patologia , Gravidez de Gêmeos/metabolismo , Adulto , Feminino , Retardo do Crescimento Fetal/diagnóstico , Retardo do Crescimento Fetal/metabolismo , Retardo do Crescimento Fetal/patologia , Perfilação da Expressão Gênica , Idade Gestacional , Glucose/metabolismo , Transportador de Glucose Tipo 1/metabolismo , Transportador de Glucose Tipo 3/metabolismo , Humanos , Subunidade alfa do Fator 1 Induzível por Hipóxia/genética , Recém-Nascido , Idade Materna , Troca Materno-Fetal/genética , Placenta/irrigação sanguínea , Gravidez , Ultrassonografia Doppler , Ultrassonografia Pré-Natal , Regulação para Cima
5.
BMC Pregnancy Childbirth ; 20(1): 558, 2020 Sep 23.
Artigo em Inglês | MEDLINE | ID: mdl-32967640

RESUMO

BACKGROUND: Peters anomaly is a rare form of anterior segment ocular dysgenesis, the antenatal image of Peters anomaly had not been reported. We herein showcased a discordant finding of Peters anomaly in a monozygotic twin complicated with twin-twin transfusion syndrome (TTTS) and exhibited its antenatal sonographic images, CASE PRESENTATION: A 38-year-old gravida 2 para 1 pregnant woman visited our clinic at the gestational age of 18 weeks where TTTS stage III was diagnosed and the following laser therapy was done successfully. Ten days after the surgery, the follow-up ultrasound detected the opacity of both fetal eyeballs in the donor twin and thus congenital cataract was suspected initially. Then magnetic resonance imaging (MRI) examination was arranged at the gestational age of 23 weeks, and no central nervous system or other anomaly was found. At the 29 weeks of gestation, the opacity of both fetal eyeballs of the donor twin did not clear. The pregnancy resulted in cesarean section at the gestational age of 37 weeks indicated by malpresentation where two male live births were born. Examination under anesthesia was arranged for donor twin after delivery and Peters anomaly was diagnosed based on central corneal opacity with iridocorneal and corneolenticular adhesions. CONCLUSIONS: The prenatal image of Peters anomaly may present as the opacity of the fetal eyeballs similar to congenital cataract. Some cases of the Peters anomaly had been reported with a genetic abnormality, but since our case presented discordant presentation in monozygotic twin pregnancy where both twins are supposed to share the same genetic make-up, therefore other factors that are epigenetic may be held accountable. Nevertheless, a genetic origin of the anomaly in our case cannot be excluded.


Assuntos
Segmento Anterior do Olho/anormalidades , Opacidade da Córnea/complicações , Doenças em Gêmeos/complicações , Anormalidades do Olho/complicações , Transfusão Feto-Fetal/complicações , Gêmeos Monozigóticos , Adulto , Feminino , Humanos , Recém-Nascido , Gravidez
6.
BMC Pregnancy Childbirth ; 20(1): 336, 2020 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-32487027

RESUMO

BACKGROUND: A high incidence of posterior reversible encephalopathy syndrome (PRES) has been observed in women with eclampsia on imaging. However this association was documented mostly after convulsions occurred. This study aimed to detect the development of PRES using magnetic resonance imaging (MRI) in women with severe preeclampsia and headache, and evaluate the clinical and radiological findings in obstetric outcomes. METHODS: A prospective single-center cohort study comprising 20 pregnant women with severe pre-eclampsia related headache was conducted using Numeric Rating Scale (NRS) score of ≧4. Additionally, non-contrast brain MRI was used to detect PRES and related radiological central nervous system (CNS) abnormalities. RESULTS: Patients were enrolled at a mean gestational age of 32 weeks (range 29-38 weeks). Two women were unable to complete the scanning. Of the 18 MRI scans, 15 (83%) revealed abnormal findings. One patient developed an altered mental state and diffuse PRES, with the occipital, temporal, thalamus, and basal ganglia, the brain stem, and the cerebellum being affected. Two patients had abnormal susceptibility-weighted imaging (SWI) findings, indicating micro-hemorrhages. The majority (12 cases, 66%) of the patients had abnormal cortical hyperintensities in the occipital and temporal lobes. Only three patients had normal MRI pictures. None of the women had eclampsia occurred during the peripartum period, and only one unrelated neonatal death due to congenital anomalies. CONCLUSION: A high incidence of abnormal cortical hyperintensity changes at locations typical for PRES on MRI was noted in women with severe pre-eclampsia and headache. These early hypertensive neurological signs allowed prompt and efficient obstetrical management, to prevent the development of eclampsia and PRES.


Assuntos
Cefaleia/epidemiologia , Síndrome da Leucoencefalopatia Posterior/diagnóstico por imagem , Síndrome da Leucoencefalopatia Posterior/epidemiologia , Pré-Eclâmpsia/epidemiologia , Índice de Gravidade de Doença , Adulto , Cesárea , Comorbidade , Eclampsia/prevenção & controle , Feminino , Seguimentos , Idade Gestacional , Humanos , Incidência , Imageamento por Ressonância Magnética , Gravidez , Resultado da Gravidez , Estudos Prospectivos , Convulsões , Taiwan/epidemiologia
7.
BMC Pregnancy Childbirth ; 19(1): 87, 2019 Mar 11.
Artigo em Inglês | MEDLINE | ID: mdl-30871491

RESUMO

BACKGROUND: Transient donor hydrops (TDH) is defined as donor hydrops developed within days after laser therapy for twin-twin transfusion syndrome (TTTS) followed by resolution later. The purpose of this study was to evaluate the incidence, neonatal outcomes and predisposing factors of post laser therapy TDH in severe TTTS. METHODS: A total of 142 patients with severe TTTS who received laser therapy were included into this study. The pre-operative characteristics and neonatal outcomes were compared between TTTS with and without post laser therapy TDH. All live neonates received cranial ultrasound examination after delivery, mild cerebral injury was defined as exhibiting at least one of the following: intraventricular hemorrhage (IVH) grade I and II, lenticulostriate vasculopathy and subependymal pseudocysts; severe cerebral injury comprised at least one among the following: IVH grade III or grade IV, cystic periventriculoleukomalacia (PVL) grade II or more, porencephalic cysts, and ventricular dilatation. Fetal survival was defined as living more than 30 days after delivery.


Assuntos
Transfusão Feto-Fetal/cirurgia , Fetoscopia/efeitos adversos , Hidropisia Fetal/epidemiologia , Doenças do Recém-Nascido/epidemiologia , Fotocoagulação a Laser/efeitos adversos , Adulto , Doença Cerebrovascular dos Gânglios da Base/epidemiologia , Doença Cerebrovascular dos Gânglios da Base/etiologia , Lesões Encefálicas/epidemiologia , Lesões Encefálicas/etiologia , Estudos de Casos e Controles , Hemorragia Cerebral Intraventricular/epidemiologia , Hemorragia Cerebral Intraventricular/etiologia , Feminino , Transfusão Feto-Fetal/complicações , Transfusão Feto-Fetal/embriologia , Fetoscopia/métodos , Glioma Subependimal/epidemiologia , Glioma Subependimal/etiologia , Humanos , Hidropisia Fetal/etiologia , Incidência , Recém-Nascido , Doenças do Recém-Nascido/etiologia , Fotocoagulação a Laser/métodos , Gravidez , Resultado da Gravidez , Gravidez de Gêmeos
8.
BMC Pregnancy Childbirth ; 19(1): 397, 2019 Nov 01.
Artigo em Inglês | MEDLINE | ID: mdl-31675920

RESUMO

BACKGROUND: To evaluate the incidence and outcomes of septostomy in twin-to-twin transfusion syndrome (TTTS) after fetoscopic laser therapy. METHODS: A retrospective analysis of TTTS postlaser septostomy between 2005 and 2018 was performed. Postlaser septostomy was diagnosed using both (1) a free-floating intertwin membrane flap visible on ultrasound examination and (2) the rapid equalization of amniotic fluid maximum vertical pocket in the donor and recipient amniotic sacs observed after laser therapy. Perinatal survival, neonatal brain image anomaly, gestational age at operation and birth, incidence of premature rupture of membranes (PROM) within 3 weeks after operation, pseudoamniotic band syndrome, and cord entanglement were evaluated. RESULTS: In the 159 TTTS cases included, 12 had postlaser septostomy. Relative to the group without septostomy, the septostomy group had a lower total fetal survival rate (54.2% vs 73.6%, p = 0.041), an earlier mean gestational age at delivery (27.8 vs 34.4 weeks, p = 0.009), a higher risk of PROMs within 3 weeks after operation (33.3% vs 5.4%, p = 0.004), a higher cord entanglement rate (16.7% vs 0%, p = 0.005), and a higher brain image anomaly rate (23.0% [3/13] vs 5.0% [11/218], p = 0.035). After considering the severe Quintero stages (stage III and IV), postlaser septostomy was the only variable [p = 0.003, odds ratio = 5.1] to predict neonatal brain image anomaly. Postlaser septostomy combined with severe Quintero stages could predict PROMs within 3 weeks after laser therapy [p = 0.001, odds ratio = 14.1 and p = 0.03, odds ratio = 5.4, respectively] and delivery before the gestational age of 28 weeks [p = 0.017, odds ratio = 4.5 and p = 0.034, odds ratio = 2.3, respectively]. The risk of pseudoamniotic band syndrome was not increased by postlaser septostomy in this case series. CONCLUSIONS: Postlaser septostomy in TTTS was associated with poorer fetal survival and more adverse perinatal outcomes even after considering severe Quintero stages before laser therapy. Efforts should be made to prevent septostomy during laser therapy, and septostomy as the primary method to treat TTTS is not advisable.


Assuntos
Transfusão Feto-Fetal/cirurgia , Fetoscopia/efeitos adversos , Terapia a Laser/efeitos adversos , Complicações Pós-Operatórias/epidemiologia , Complicações na Gravidez/epidemiologia , Adulto , Síndrome de Bandas Amnióticas/epidemiologia , Síndrome de Bandas Amnióticas/etiologia , Líquido Amniótico , Feminino , Ruptura Prematura de Membranas Fetais/epidemiologia , Ruptura Prematura de Membranas Fetais/etiologia , Fetoscopia/métodos , Humanos , Incidência , Terapia a Laser/métodos , Razão de Chances , Complicações Pós-Operatórias/etiologia , Gravidez , Complicações na Gravidez/etiologia , Gravidez de Gêmeos , Estudos Retrospectivos , Taxa de Sobrevida , Resultado do Tratamento
9.
BMC Pediatr ; 19(1): 123, 2019 04 23.
Artigo em Inglês | MEDLINE | ID: mdl-31014306

RESUMO

BACKGROUND: Congenital megalourethra is a rare prenatal finding while prenatal diagnosis of imperforate anus poses high challenge. This is the first prenatally ultrasound diagnosed case which had congenital megalourethra and imperforate anus. This case demonstrated the possibility of using the prenatal imaging findings to evaluate the postnatal prognostic outcomes in multi-organ anomalies. CASE: We present a case of congenital megalourethra, diagnosed prenatally at 22 weeks' gestation, in which the penis appeared severe dilated with complete absence of the corpora spongiosa and cavernosa. This case also revealed absence of perianal muscle which was in associated with imperforate anus. Detailed prenatal ultrasonographic findings predicted the high possibility of poor outcome of the fetus in the pulmonary, renal, and sexual functions. CONCLUSION: This case serves to identify not only the marked bilateral hydronephrosis features but also the striking lower urethral malformation with obstruction flow effect of the penis. Indeed we believe this is the first case report of a rare case of fetal megalourethra associated with imperforate anus at early second trimester on ultrasonography imaging.


Assuntos
Aborto Terapêutico , Anus Imperfurado/diagnóstico por imagem , Uretra/anormalidades , Anormalidades Urogenitais/diagnóstico por imagem , Anormalidades Múltiplas/diagnóstico por imagem , China , Feminino , Humanos , Recém-Nascido , Masculino , Gravidez , Segundo Trimestre da Gravidez , Diagnóstico Pré-Natal , Doenças Raras , Ultrassonografia Pré-Natal
10.
BMC Pregnancy Childbirth ; 18(1): 74, 2018 03 24.
Artigo em Inglês | MEDLINE | ID: mdl-29573746

RESUMO

BACKGROUND: Placental mitochondrial DNA (mtDNA) has been proposed to be an indicator for placental hypoxia. This study was designed to evaluate the effect of vascular anastomoses between monochorionic (MC) twins on placental mtDNA. METHODS: In this study, twin-twin transfusion syndrome (TTTS) treated with laser therapy and MC twins without TTTS (without laser therapy) resulting in two live babies were included in this study. The placental mtDNA fold changes (FC) between the small and large twins were analyzed using real-time quantitative PCR. TTTS twins with selective intrauterine growth restriction (sIUGR) are categorized as group 1, TTTS without sIUGR as group 2, MC twins without TTTS but with sIUGR as group 3, and MC twins without both TTTS and sIUGR as group 4. RESULTS: There were seven cases in group 1, eight in group 2, 26 in group 3, and 24 in group 4 cases. The placental mtDNA FC were significantly higher in group 1 (1.57 ± 0.9) compared to that of the group 3 (0.86 ± 0.6). CONCLUSION: In MC twin pregnancies with sIUGR, the placental mtDNA FC between the small and large twins are different between cases with and without inter-twin anastomoses. These findings suggest that the inter-twin anastomoses in the MC twins with sIUGR may provide rescue perfusion from the appropriate-for-gestational-age twin to the sIUGR one.


Assuntos
Anastomose Arteriovenosa/metabolismo , DNA Mitocondrial/sangue , Retardo do Crescimento Fetal/sangue , Placenta/metabolismo , Gravidez de Gêmeos/sangue , Anastomose Arteriovenosa/embriologia , Córion , Feminino , Hipóxia Fetal/sangue , Transfusão Feto-Fetal/terapia , Humanos , Terapia a Laser/métodos , Placenta/irrigação sanguínea , Gravidez
11.
BMC Pregnancy Childbirth ; 18(1): 321, 2018 Aug 08.
Artigo em Inglês | MEDLINE | ID: mdl-30089456

RESUMO

BACKGROUND: We previously reported that fetal plasma erythropoietin (EPO) concentrations are significantly increased in growth-restricted fetuses with abnormal umbilical artery (UA) Doppler. During hypoxia in an ovine model, the primary site of fetal EPO synthesis was switched from the kidneys to the placenta. Therefore, we designed this study to evaluate human placental EPO gene expression and the correlation to fetal serum EPO concentration in growth-restricted fetuses in a monochorionic (MC) twin model. METHODS: In MC twin pairs, selective intrauterine growth restriction (sIUGR) was defined as the presence of (i) birth weight discordance of > 20% and (ii) a smaller twin with a birth weight less than the 10th percentile. Fetal UA and middle cerebral artery (MCA) Doppler were checked within 1 week before delivery. An abnormal UA Doppler was defined as persistently absent or reverse end-diastolic flow. Cerebroplacental ratio (CPR) was defined as MCA-pulsatility index (PI)/UA-PI. Fetal plasma EPO concentrations were measured in cord blood, and EPO gene expression was assayed in each twin's placental territory. The intertwin plasma EPO ratio was calculated as the cord plasma EPO level of the smaller (or sIUGR) twin divided by the EPO concentration of the larger (or appropriate-for-gestational-age (AGA)) twin, and the intertwin placental EPO gene expression ratio was calculated similarly. RESULTS: Twenty-six MC twins were analyzed, including normal twins (Group 1, n = 9), twins with sIUGR without UA Doppler abnormalities (Group 2, n = 9), and twins with sIUGR and UA Doppler abnormalities (Group 3, n = 8). The CPRs of smaller (sIUGR) fetuses were significantly decreased in Group 3 MC twins (p < 0.001), but not significantly different between Group 1 and Group 2. The highest fetal plasma EPO ratio and placental EPO gene expression ratio were identified in Group 3 MC twins (p < 0.001). The placental EPO gene expression ratios were significantly correlated with the fetal plasma EPO ratios (Pearson's correlation test, p = 0.004). CONCLUSION: This study provides evidence of increased placental EPO expression in MC twin fetuses with sIUGR and abnormal UA Doppler. Future studies are needed to confirm the similar role of placental EPO in severe IUGR singletons.


Assuntos
Eritropoetina/genética , Sangue Fetal/metabolismo , Retardo do Crescimento Fetal/metabolismo , Placenta/metabolismo , Artérias Umbilicais/diagnóstico por imagem , Estudos de Casos e Controles , Córion , Eritropoetina/metabolismo , Feminino , Retardo do Crescimento Fetal/diagnóstico por imagem , Expressão Gênica , Humanos , Recém-Nascido , Masculino , Artéria Cerebral Média/diagnóstico por imagem , Gravidez , Fluxo Pulsátil , Gêmeos , Ultrassonografia Doppler , Ultrassonografia Pré-Natal
12.
Twin Res Hum Genet ; 19(4): 383-8, 2016 08.
Artigo em Inglês | MEDLINE | ID: mdl-27161360

RESUMO

Hypoxia is the primary stimulus for the production of erythropoietin (EPO) in both fetal and adult life. Here, we investigated fetal plasma EPO concentrations in monochorionic (MC) twin pregnancies with selective intrauterine growth restriction (sIUGR) and abnormal umbilical artery (UA) Doppler. We diagnosed sIUGR in presence of (1) birth-weight discordance >20% and (2) either twin with a birth weight <10th percentile. An abnormal UA Doppler was defined as a persistent absent-reverse end diastolic flow (AREDF). The intertwin EPO ratio was calculated as the plasma EPO level of the smaller (or small-for-gestational-age) twin divided by the EPO concentration of the larger (or appropriate-for-gestational-age (AGA)) twin. Thirty-two MC twin pairs were included. Of these, 17 pairs were normal twins (Group 1), seven pairs were twins with sIUGR without UA Doppler abnormalities (Group 2), and eight pairs were twins with sIUGR and UA Doppler abnormalities (Group 3). The highest EPO ratio was identified in Group 3 (p < .001) but no significant differences were observed between Groups 1 and 2. Fetal hemoglobin levels did not differ significantly in the three groups, and fetal EPO concentration did not correlate with gestational age at birth. We conclude that fetal plasma EPO concentrations are selectively increased in MC twin pregnancies with sIUGR and abnormal UA Doppler, possibly as a result of uncompensated hypoxia.


Assuntos
Eritropoetina/sangue , Retardo do Crescimento Fetal/diagnóstico por imagem , Gravidez de Gêmeos/sangue , Artérias Umbilicais/diagnóstico por imagem , Córion , Doenças em Gêmeos/sangue , Doenças em Gêmeos/diagnóstico , Feminino , Retardo do Crescimento Fetal/sangue , Idade Gestacional , Humanos , Recém-Nascido , Masculino , Gravidez , Ultrassonografia Doppler , Ultrassonografia Pré-Natal , Artérias Umbilicais/anormalidades
13.
J Reprod Med ; 59(1-2): 90-2, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-24597294

RESUMO

BACKGROUND: Mirror syndrome is a rare complication of twin-twin transfusion syndrome (TTTS). Its clinical picture includes massive edema, oliguria, and hemodilution in the context of fetal hydrops. The occurrence of mirror syndrome after fetoscopic laser therapy for TTTS has been well documented, but resolution of mirror syndrome before delivery has not been reported in the literature. CASE: A 33-year-old woman was referred to our institution at 23(6)/7 weeks' gestation for TTTS, which had been treated with amnioreduction twice: at 21 and 22 gestational weeks, respectively. Mirror syndrome was diagnosed after fetoscopic laser therapy for TTTS at 24 weeks' gestation due to maternal manifestations of pulmonary edema, skin edema, anemia, low blood protein concentration and proteinuria accompanied by donor hydrops. The maternal respiratory symptoms then gradually abated in <2 weeks along with improved fetal condition, resulting in a delivery with favorable outcomes at 36 weeks' gestation. CONCLUSION: Manifestation of mirror syndrome after fetoscopic laser therapy in twin-twin transfusion due to donor hydrops doesn't necessarily predict a poor perinatal outcome.


Assuntos
Transfusão Feto-Fetal/complicações , Transfusão Feto-Fetal/cirurgia , Fetoscopia , Hidropisia Fetal/etiologia , Terapia a Laser , Adulto , Anemia , Proteínas Sanguíneas/deficiência , Edema , Feminino , Idade Gestacional , Humanos , Oligúria , Gravidez , Resultado da Gravidez , Proteinúria , Edema Pulmonar , Síndrome
14.
Taiwan J Obstet Gynecol ; 63(5): 771-776, 2024 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-39266164

RESUMO

OBJECTIVE: To present the ultrasound imaging and genetic diagnosis of a fetus with prenatal lethal form of Gaucher disease. CASE REPORT: A 37-year-old primiparous woman was pregnant at her 23 weeks of gestation and the prenatal fetal ultrasound revealed hydrops fetalis, cerebellum hypoplasia, and fetal immobility. The pregnancy was terminated due to major fetal anomaly, and whole exome sequencing (WES) analysis of fetal tissue and parental blood unveiled a pathogenic variant in exon 10 of the GBA gene (NM_001005741.3: c.1265T > G: p.L422R) originating from the mother. Additionally, a novel CNV (chr1: 155204785-155205635 deletion, 0.85 kb) spanning exon 10-12 in the GBA gene was identified from the father. This compound heterozygosity confirmed the diagnosis of prenatal lethal form of Gaucher disease and was informative for genetic counseling. CONCLUSION: WES is a powerful tool to detect pathogenic variants among fetuses with nonimmune hydrops fetalis and complex abnormality from prenatal ultrasound. Compound heterozygosity consisted of single nucleotide variants (SNV) and copy number variations (CNVs) may lead rare inherited metabolic disorders including prenatal lethal form of Gaucher disease.


Assuntos
Cerebelo , Variações do Número de Cópias de DNA , Sequenciamento do Exoma , Doença de Gaucher , Hidropisia Fetal , Ultrassonografia Pré-Natal , Humanos , Feminino , Doença de Gaucher/genética , Doença de Gaucher/diagnóstico , Doença de Gaucher/complicações , Gravidez , Adulto , Hidropisia Fetal/genética , Hidropisia Fetal/diagnóstico , Cerebelo/anormalidades , Cerebelo/diagnóstico por imagem , Heterozigoto , Malformações do Sistema Nervoso/genética , Malformações do Sistema Nervoso/diagnóstico , Polimorfismo de Nucleotídeo Único , Glucosilceramidase/genética , Deficiências do Desenvolvimento
15.
J Mol Med (Berl) ; 102(6): 819-830, 2024 06.
Artigo em Inglês | MEDLINE | ID: mdl-38568327

RESUMO

We conducted a comprehensive metabolomic analysis of plasma samples obtained from pregnant women who displayed varying post-vaccination antibody titers after receiving mRNA-1273-SARS-CoV-2 vaccines. The study involved 62 pregnant women, all of whom had been vaccinated after reaching 24 weeks of gestation. To quantify post-vaccination plasma antibody titers, we employed binding antibody units (BAU) in accordance with the World Health Organization International Standard. Subsequently, we classified the study participants into three distinct BAU/mL categories: those with high titers (above 2000), medium titers (ranging from 1000 to 2000), and low titers (below 1000). Plasma metabolomic profiling was conducted using 1H nuclear magnetic resonance spectroscopy, and the obtained data were correlated with the categorized antibody titers. Notably, in pregnant women exhibiting elevated anti-SARS-CoV-2 antibody titers, reduced plasma concentrations of acetate and urea were observed. A significant negative correlation between these compounds and antibody titers was also evident. An analysis of metabolomics pathways revealed significant inverse associations between antibody titers and four distinct amino acid metabolic pathways: (1) biosynthesis of phenylalanine, tyrosine, and tryptophan; (2) biosynthesis of valine, leucine, and isoleucine; (3) phenylalanine metabolism; and (4) degradation of valine, leucine, and isoleucine. Additionally, an association between the synthesis and degradation pathways of ketone bodies was evident. In conclusion, we identified different metabolic pathways that underlie the diverse humoral responses triggered by COVID-19 mRNA vaccines during pregnancy. Our data hold significant implications for refining COVID-19 vaccination approaches in expectant mothers. KEY MESSAGES : Anti-SARS-CoV-2 antibody titers decline as the number of days since COVID-19 vaccination increases. Anti-SARS-CoV-2 antibody titers are inversely associated with acetate, a microbial-derived metabolite, and urea. Amino acid metabolism is significantly associated with SARS-CoV-2 antibody titers.


Assuntos
Acetatos , Anticorpos Antivirais , Vacinas contra COVID-19 , COVID-19 , Metabolômica , SARS-CoV-2 , Ureia , Vacinação , Humanos , Feminino , Gravidez , Anticorpos Antivirais/sangue , Anticorpos Antivirais/imunologia , COVID-19/imunologia , COVID-19/prevenção & controle , COVID-19/sangue , Metabolômica/métodos , SARS-CoV-2/imunologia , Adulto , Ureia/sangue , Vacinas contra COVID-19/imunologia , Metaboloma , Vacina de mRNA-1273 contra 2019-nCoV
16.
Prenat Diagn ; 33(2): 187-90, 2013 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-23288835

RESUMO

SUBJECT: This study investigates the placental autophagic activity in growth-restricted fetuses in the monochorionic (MC) twin model. PATIENTS AND METHODS: Forty MC twins were prospectively enrolled in this study, including 21 with and 19 without selective intrauterine growth restriction (sIUGR), defined as birth weight below the tenth percentile. The sIUGR group was subdivided on the basis of present versus absent or reversed umbilical artery end-diastolic flow at Doppler. Placenta samples were taken after delivery from each twin placenta territories. After protein extraction, Western blot was used to determine light chain 3 (LC3)-II placental protein expression in sIUGR and appropriately grown (appropriate-for-gestational age, AGA) twins. RESULTS: The LC3-II was significantly higher in the sIUGR twin placental territory than in their AGA counterparts. In the sIUGR group, LC3-II fold change was significantly increased compared with that in the AGA cotwins (2.28 vs 1.04, p < 0.05). Placental LC3-II protein expression was particularly stimulated in the MC sIUGR group with abnormal umbilical artery Doppler flow compared with AGA controls (p < 0.05, one-way analysis of variance test). CONCLUSIONS: In MC twins, the placental autophagic activity is different between sIUGR and AGA cotwins. The placenta territory with the least blood flow perfusion has the highest autophagic activity.


Assuntos
Autofagia , Retardo do Crescimento Fetal/fisiopatologia , Placenta/fisiopatologia , Gêmeos Monozigóticos , Adulto , Feminino , Humanos , Proteínas Associadas aos Microtúbulos/metabolismo , Placenta/metabolismo , Gravidez , Gravidez de Gêmeos , Estudos Prospectivos , Adulto Jovem
17.
J Clin Med ; 12(5)2023 Feb 28.
Artigo em Inglês | MEDLINE | ID: mdl-36902688

RESUMO

PURPOSE: The aim of this study was to evaluate the effect of gestational age (GA) at the time of fetoscopic laser photocoagulation (FLP) for severe twin-twin transfusion syndrome (TTTS) on perinatal outcomes in a single center in Taiwan. MATERIALS AND METHODS: Severe TTTS was defined as a diagnosis of TTTS before a GA of 26 weeks. Consecutive cases of severe TTTS treated at our hospital with FLP between October 2005 and September 2022 were included. The evaluated perinatal outcomes were preterm premature rupture of membranes (PPROM) within 21 days of FLP, survival 28 days after delivery, GA at delivery, and neonatal brain sonographic imaging findings within 1 month of delivery. RESULTS: We included 197 severe TTTS cases; the mean GA at the time of FLP was 20.6 weeks. After the cases were divided into cases of FLP at early (below 20 weeks) and late GAs (more than 20 weeks), the early-GA group was discovered to be associated with a deeper maximum vertical pocket in the recipient twin, a higher rate of PPROM development within 21 days of FLP, and lower rates of survival of one or both twins. In the cases of stage I TTTS, the rate of PPROM within 21 days of FLP was higher in the group that underwent FLP at an early GA than in the group that underwent FLP at a late GA (50% (3/6) vs. 0% (0/24), respectively, p = 0.005). Logistic regression analysis revealed that the GA at the time of FLP and the cervical length before FLP is implemented are significantly associated with the survival of one twin and the incidence of PPROM development within 21 days of FLP. The GA at the time of FLP, the cervical length before FLP, and TTTS being stage III TTTS were associated with the survival of both twins after FLP. Neonatal brain image anomalies were associated with GA at delivery. CONCLUSIONS: FLP being performed at an earlier GA is a risk factor for lower fetal survival and PPROM development within 21 days of FLP in cases of severe TTTS. Delaying FLP for cases involving stage I TTTS diagnosed at an early GA without risk factors, such as maternal symptoms, cardiac overload in the recipient twin, or a short cervical length, may be considered, but whether delaying FLP would improve surgical outcomes and, if so, how long the delay should be may need further trials to answer.

18.
Taiwan J Obstet Gynecol ; 62(1): 163-166, 2023 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-36720533

RESUMO

OBJECTIVE: Simpson-Golabi-Behmel syndrome type 1 (SGBS1) is a rare X-linked recessive disorder characterized by overgrowth and multiple anomalies. Most clinical diagnoses of SGBS1 are made postnatally. We present the case of a pregnant woman in whom the fetus presented with a thick nuchal fold 5.6 mm at 15 weeks of gestation, leading to the prenatal diagnosis of SGBS1 with Xq26.2 (133408101-134221889) deletion. CASE REPORT: We report the case of a 34-year-old pregnant woman with the initial presentation of fetal thick nuchal fold 5.6 mm at 15 weeks of gestation. Amniocentesis of the fetal karyotype revealed a normal 46, XY, and single nucleotide polymorphism array showed Xq26.2 (133408101-134221889) deletion. Prenatal ultrasound at 21 weeks of gestation revealed a thick nuchal fold, hepatomegaly, nephromegaly, congenital diaphragmatic hernia, hypospadias, and polyhydramnios. Fetal magnetic resonance imaging revealed hepatomegaly, nephromegaly, congenital diaphragmatic hernia, and right lung hypoplasia. The woman had her pregnancy terminated at 24 weeks of gestation. The proband had a general appearance of low-set ears, hypertelorism, a large tongue, and hypospadias and some unique findings on autopsy, including hepatomegaly, right hiatal hernia, liver extensive extramedullary hematopoiesis, kidney marked congestion, and focal hemorrhage. DISCUSSION: The main prenatal ultrasound findings that alert clinical doctors about the possible diagnosis of SGBS1 included macrosomia, polyhydramnios, organomegaly, renal malformations, congenital diaphragmatic hernia, and cardiac anomalies. Our case underscores the importance of fetal karyotyping combined with single nucleotide polymorphism array when a thick nuchal fold is found. Genetic counseling is essential in SGBS1, and prenatal testing or preimplantation testing for subsequent pregnancies is necessary to identify possible pathogenic variants.


Assuntos
Hérnias Diafragmáticas Congênitas , Hipospadia , Poli-Hidrâmnios , Humanos , Masculino , Gravidez , Feminino , Adulto , Medição da Translucência Nucal , Hepatomegalia , Diagnóstico Pré-Natal
19.
Prenat Diagn ; 32(9): 893-6, 2012 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-22718147

RESUMO

OBJECTIVE: To evaluate the incidence and predictive factors of poor neurological outcome in survivors of twin-to-twin transfusion syndrome (TTTS) treated with fetoscopic laser photocoagulation (FLP). METHODS: Brain magnetic resonance imaging (MRI) and neurodevelopmental assessment were performed at a corrected age of 1 year in survivors of TTTS treated by FLP. Severe neurological abnormality was defined as either the presence of severe clinical neurodevelopmental disability or severe anomalies, visualized on MRI of the brain. RESULT: In a consecutive series of 46 cases treated by FLP, the total survival rate was 66.3%; survival of at least one was 80.4%. Severe neurodevelopment disability was 6.7 % (4/59) and the presence of a severe anomaly on brain imaging was 8.8% (5/57), which combined to a clinical or MRI abnormality rate of 10.5% (6/57). Univariate analysis revealed that early gestational age at delivery was the most significant predictor. However, the multiple logistic regression model did not identify any significant variables. CONCLUSION: In this small series, we determined a rate of clinical neurologic impairment rate at the age of 1 year of 6.7%, which compares to what has been published.


Assuntos
Doenças em Gêmeos/epidemiologia , Transfusão Feto-Fetal/cirurgia , Fetoscopia/métodos , Fotocoagulação a Laser , Doenças do Sistema Nervoso/epidemiologia , Adulto , Feminino , Viabilidade Fetal/fisiologia , Transfusão Feto-Fetal/epidemiologia , Transfusão Feto-Fetal/mortalidade , Fetoscopia/efeitos adversos , Humanos , Incidência , Recém-Nascido , Doenças do Recém-Nascido/epidemiologia , Fotocoagulação a Laser/efeitos adversos , Fotocoagulação a Laser/métodos , Fotocoagulação/efeitos adversos , Fotocoagulação/métodos , Centros de Saúde Materno-Infantil , Doenças do Sistema Nervoso/congênito , Gravidez , Resultado da Gravidez/epidemiologia , Prognóstico , Resultado do Tratamento , Gêmeos
20.
Twin Res Hum Genet ; 15(5): 680-4, 2012 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-22877960

RESUMO

This study was designed to evaluate the degree of placenta share discordance in relation to the betamethasone-induced return of positive end-diastolic flow in monochorionic twin pregnancies with selective intrauterine growth restriction (sIUGR) and abnormal umbilical artery Doppler. Monochorionic twins with sIUGR was defined as one twin having an estimated fetal weight below the 10th percentile combined with an estimated fetal weight discordance >25%. The umbilical artery Doppler directly prior to (D0) and 24 hours (D1) and 48 hours (D2) after the first dose of betamethasone administration was recorded. The estimated individual placental weight in monochorionic twins was obtained by cutting the placenta along the vascular equator into two territories; the placenta share discordance was calculated as [(estimated individual placental weight of appropriated for gestational age twin- estimated individual placental weight of growth restricted twin)/estimated individual placental weight of appropriated for gestational age twin] × 100%. Six (23.1%) of the 26 included cases achieved betamethasone-induced return of positive umbilical artery end-diastolic flow. The difference of placenta share discordance and birth weight discordance were not significantly different between twins with and without betamethasone-induced return of positive umbilical artery end-diastolic flow. Thus, according to our study results, it was proposed that although the placenta share discordance correlated with the abnormal umbilical artery Doppler in the IUGR fetus in monochorionic twin, the betamethasone-induced return of positive umbilical artery end-diastolic flow, however, did not reveal the similar relationship with the severity of placenta share discordance.


Assuntos
Betametasona/administração & dosagem , Retardo do Crescimento Fetal/tratamento farmacológico , Placenta/irrigação sanguínea , Artérias Umbilicais/diagnóstico por imagem , Artérias Umbilicais/fisiopatologia , Betametasona/uso terapêutico , Peso ao Nascer , Feminino , Retardo do Crescimento Fetal/diagnóstico por imagem , Peso Fetal , Humanos , Recém-Nascido , Placenta/diagnóstico por imagem , Placenta/efeitos dos fármacos , Gravidez , Complicações Hematológicas na Gravidez/diagnóstico por imagem , Complicações Hematológicas na Gravidez/tratamento farmacológico , Gravidez de Gêmeos/efeitos dos fármacos , Estudos Prospectivos , Gêmeos Monozigóticos , Ultrassonografia Doppler , Ultrassonografia Pré-Natal , Artérias Umbilicais/efeitos dos fármacos
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