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1.
J Perinat Med ; 50(7): 985-992, 2022 Sep 27.
Artigo em Inglês | MEDLINE | ID: mdl-35405041

RESUMO

OBJECTIVES: The prognosis of nonimmune hydrops fetalis (NIHF) is still poor with a high mortality and morbidity rate despite progress in perinatal care. This study was designed to investigate etiology and outcome of NIHF. METHODS: A retrospective review of 90 NIHF cases from 2007 to 2019 was conducted at University Medical Center of the Johannes Gutenberg University, Mainz, Germany. Demographics, genetic results, prenatal and postnatal outcomes including one year survival as well as autopsy data were extracted. Etiology of hydrops was classified using 13 previously established categories. In 4 patients observed between 2016 and 2019, we used a next-generation-sequencing (NGS) panel for genetic evaluation. RESULTS: Ninety NIHF cases were identified, with a median gestational age (GA) at diagnosis of 14 weeks. There were 25 live-born infants with a median GA of 34 weeks at birth, 15 patients survived to one year. There was aneuploidy in more than one third of the cases. All 90 cases were subclassified into etiologic categories with chromosomal 35, idiopathic 15, syndromic 11, cardiovascular 9, inborn errors of metabolism 6, lymphatic dysplasia 3, thoracic 3, infections 3, gastrointestinal 3 and hematologic 2. The NGS panel was used in 4 cases and 4 diagnoses were made. CONCLUSIONS: In 90 cases with NIHF we identified an aneuploidy in more than one third of the cases. Improved techniques, such as possibly specific genetic analysis, could reduce the high rate of unexplained cases of NIHF.


Assuntos
Aneuploidia , Hidropisia Fetal , Autopsia , Feminino , Idade Gestacional , Humanos , Hidropisia Fetal/diagnóstico , Hidropisia Fetal/epidemiologia , Hidropisia Fetal/etiologia , Lactente , Recém-Nascido , Gravidez , Estudos Retrospectivos
2.
J Surg Res ; 255: 463-468, 2020 11.
Artigo em Inglês | MEDLINE | ID: mdl-32622160

RESUMO

BACKGROUND: Congenital lung malformations (CLMs) have a variable natural history: some patients require urgent perinatal surgical intervention (UPSI) and others remain asymptomatic. These lesions have potential growth until 26-28 wk gestation. CLM volume ratio (CVR) has been shown to predict the risk of hydrops in CLMs. However, no criteria exist to delineate lesions requiring urgent surgical intervention in the perinatal period. Our goal was to determine prenatal diagnostic features that predict the need for UPSI in patients diagnosed with CLM. METHODS: Records and imaging features of all fetuses evaluated by our fetal center between May 2015 and December 2018 were retrospectively reviewed. Data included demographics, fetal ultrasound and magnetic resonance imaging, CVR, surgical treatment, and outcome. Features were analyzed for their ability to predict the need for UPSI. RESULTS: Sixty-four patients were referred for CLM, with 48 patients serially followed. Nine (18.8%) patients were followed nonoperatively, 35 (72.9%) underwent resection, and four (8.3%) were lost to follow-up. Of the patients who underwent resection, 24 (68.5%) were electively resected and 11 were urgently resected. Five (14.3%) patients underwent ex utero intrapartum treatment resection, and six (17.1%) were urgently resected for symptomatic CLM. There were no cases of UPSI with final CVR <1.1. Of the patients with final CVR 1.1-1.7, 43% required urgent resection. CVR ≥1.1 has 100% sensitivity and 87.8% specificity to predict patients requiring UPSI (area under the curve of 0.98). CONCLUSIONS: A final CVR ≥1.1 is highly predictive for UPSI. Patients with a final CVR ≥1.1 should be referred for delivery at centers with pediatric surgeons equipped for potential UPSI for CLM.


Assuntos
Tratamento de Emergência/estatística & dados numéricos , Hidropisia Fetal/epidemiologia , Assistência Perinatal/estatística & dados numéricos , Anormalidades do Sistema Respiratório/diagnóstico , Ultrassonografia Pré-Natal , Tratamento de Emergência/métodos , Feminino , Seguimentos , Humanos , Hidropisia Fetal/etiologia , Lactente , Mortalidade Infantil , Recém-Nascido , Pulmão/anormalidades , Pulmão/diagnóstico por imagem , Pulmão/cirurgia , Masculino , Assistência Perinatal/métodos , Valor Preditivo dos Testes , Gravidez , Prognóstico , Anormalidades do Sistema Respiratório/complicações , Anormalidades do Sistema Respiratório/mortalidade , Anormalidades do Sistema Respiratório/cirurgia , Estudos Retrospectivos , Medição de Risco/métodos
3.
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
4.
Prenat Diagn ; 36(5): 432-6, 2016 May.
Artigo em Inglês | MEDLINE | ID: mdl-26934494

RESUMO

OBJECTIVE: To describe the association of abnormal outcomes with fetal cystic hygroma detected when crown-rump length measures less than 45 mm, and to compare them to outcomes among fetuses with cystic hygroma detected when crown-rump length measures 45-84 mm. METHODS: We performed a retrospective cohort study of fetuses with first trimester nuchal cystic hygroma from 2005 to 2015. RESULTS: A total of 212 fetuses were included. Abnormal karyotype was found in 20 of 46 (43.4%) fetuses with cystic hygroma detected when crown-rump length measured below 45 mm, compared to 108 of 148 (73%) fetuses with cystic hygroma detected at crown-rump lengths of 45-84 mm (p = 0.001). There were no differences in rates of major structural anomaly (27% vs 36%; p = 0.53) or pregnancy loss (23% vs 7%; p = 0.22) among fetuses with normal karyotype. Those with cystic hygroma diagnosed at crown-rump lengths below 45 mm were more likely to have a normal neonatal outcome compared to cases diagnosed with crown-rump lengths of 45-84 mm (25% vs 11%; p = 0.02). CONCLUSION: Cystic hygroma detected when crown-rump length measures below 45 mm have lower rates of chromosomal abnormalities and a higher proportion of normal birth outcomes when compared to those detected later in the first trimester. © 2016 John Wiley & Sons, Ltd.


Assuntos
Cariótipo Anormal/estatística & dados numéricos , Estatura Cabeça-Cóccix , Idade Gestacional , Hidropisia Fetal/epidemiologia , Linfangioma Cístico/epidemiologia , Adulto , Aberrações Cromossômicas , Cromossomos Humanos Par 18 , Estudos de Coortes , Síndrome de Down/epidemiologia , Diagnóstico Precoce , Feminino , Humanos , Hidropisia Fetal/diagnóstico por imagem , Linfangioma Cístico/diagnóstico por imagem , Gravidez , Primeiro Trimestre da Gravidez , Estudos Retrospectivos , Trissomia , Síndrome da Trissomía do Cromossomo 18 , Ultrassonografia Pré-Natal
5.
Ann Thorac Surg ; 101(5): 1811-7, 2016 May.
Artigo em Inglês | MEDLINE | ID: mdl-26916715

RESUMO

BACKGROUND: Outcomes of surgical intervention for severe tricuspid regurgitation related to Ebstein anomaly or tricuspid valve dysplasia in the neonatal period, particularly when associated with pulmonary atresia, are extremely poor. However, owing to emerging innovative surgical techniques, such as cone reconstruction, outcomes of tricuspid valve plasty in the neonatal period have gradually improved. METHODS: The study retrospectively reviewed the medical records of 12 neonates who were diagnosed with severe tricuspid regurgitation and pulmonary atresia related to Ebstein anomaly (n = 9) or isolated tricuspid valve dysplasia (n = 3) between 2000 and 2013. RESULTS: The first 6 patients underwent palliative therapy in anticipation of future functional single-ventricle palliation (Starnes operation). Biventricular repair was performed in the 6 patients born after 2012. As tricuspid valve plasty, cone reconstruction has been applied since 2013. Five patients underwent a Starnes operation, and 5 patients underwent biventricular repair, including 4 cone reconstructions. Four of the 5 patients who underwent a Starnes operation died in-hospital; the remaining patient underwent a Fontan operation at age 2 years. Three of the 5 patients who underwent biventricular repair survived. On echocardiogram, the 3 survivors who were treated with biventricular repair had a preoperative tricuspid regurgitation flow velocity greater than 3.0 m/s. CONCLUSIONS: Biventricular repair with cone reconstruction can be applied for severe tricuspid regurgitation due to neonatal Ebstein anomaly or tricuspid valve dysplasia with associated pulmonary atresia. A tricuspid regurgitation flow velocity greater than 3.0 m/s may be an indicator of successful biventricular repair.


Assuntos
Anomalia de Ebstein/cirurgia , Insuficiência da Valva Tricúspide/cirurgia , Valva Tricúspide/anormalidades , Anormalidades Múltiplas , Baixo Débito Cardíaco/mortalidade , Comorbidade , Feminino , Idade Gestacional , Mortalidade Hospitalar , Humanos , Hidropisia Fetal/epidemiologia , Recém-Nascido , Recém-Nascido Prematuro , Doenças do Prematuro/fisiopatologia , Doenças do Prematuro/cirurgia , Masculino , Cuidados Paliativos , Complicações Pós-Operatórias/mortalidade , Atresia Pulmonar/cirurgia , Estudos Retrospectivos , Resultado do Tratamento , Valva Tricúspide/cirurgia , Insuficiência da Valva Tricúspide/fisiopatologia
6.
Prenat Diagn ; 35(11): 1037-47, 2015 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-26114890

RESUMO

OBJECTIVES: To describe the epidemiology and outcomes of sacrococcygeal teratoma (SCT) and identify the factors affecting prognosis in a population-based cohort. METHODS: Analyses of fetal SCTs from a population-based congenital anomaly register between 1995 and 2012, linked to regional datasets. A systematic literature review was performed for published studies on perinatal SCT (1995 to 2012). RESULTS: Thirty-six confirmed SCT cases were identified, giving a total prevalence of 0.30 per 10 000 births (95%CI 0.20-0.39). Twenty-three cases (63.9%) were diagnosed prenatally. There were six false positive prenatal diagnoses, and the positive predictive value of ultrasound for SCT was 79.3%. Secondary complications in prenatally diagnosed cases were polyhydramnios (27.2%), fetal hydrops (9.1%) and rapidly growing tumour (54.0%). The perinatal (PNMR) and infant mortality rates were 333.3 per 1000 births and 285.7 per 1000 live births, respectively. All stillbirths and infant deaths occurred in cases diagnosed prenatally. Factors associated with higher PNMR in registerable births were solid, vascular tumour composition (1000), polyhydramnios (667), premature delivery (667) and rapidly growing tumour (454). In the systematic review, prenatal hydrops fetalis and prematurity were the most morbid association in SCT. CONCLUSION: Prenatal ultrasound was relatively sensitive and specific in diagnosing SCT with good survival rates in live-born cases.


Assuntos
Hidropisia Fetal/epidemiologia , Poli-Hidrâmnios/epidemiologia , Região Sacrococcígea , Natimorto/epidemiologia , Teratoma/epidemiologia , Adulto , Estudos de Coortes , Inglaterra/epidemiologia , Feminino , Humanos , Hidropisia Fetal/diagnóstico por imagem , Recém-Nascido , Recém-Nascido Prematuro , Mortalidade Perinatal , Poli-Hidrâmnios/diagnóstico por imagem , Valor Preditivo dos Testes , Gravidez , Prevalência , Estudos Retrospectivos , Sensibilidade e Especificidade , Teratoma/congênito , Teratoma/diagnóstico por imagem , Teratoma/mortalidade , Ultrassonografia Pré-Natal
7.
Braz. j. med. biol. res ; 47(9): 799-803, 09/2014. tab, graf
Artigo em Inglês | LILACS | ID: lil-719319

RESUMO

It has been reported that, compared with simple increased nuchal translucency, fetal cases with septated cystic hygroma (CH) are more likely to face perinatal handicaps. However, pediatric outcomes and proper prenatal counseling for this anomaly have not yet been truly defined. We performed this study to determine pregnancy and pediatric outcomes of fetuses with septated CH. We searched records for cases with septated CH and collected data for structural abnormalities, karyotype analysis, and pregnancy outcomes. Fetuses born with septated CH were also evaluated for their pediatric outcomes. Sixty-nine fetuses with septated CH were enrolled in the study. Results showed that chromosomal abnormalities were present in 28 fetuses (40.6%), and the most common aneuploidy was Turner syndrome (n=14, 20.3%); 16 (23.2%) of the remaining cases, in which aneuploidy was not found, had coexistent structural malformations; 25 (36.2%) cases had normal karyotype and morphology. The total number of live births and infants with unfavorable neurologic follow-up were 13 (18.8%) and 2 (2.9%), respectively. Septated CH is associated with poor perinatal outcomes; therefore, karyotype analysis and ultrasonographic anomaly screening should be performed as initial steps, and expectant management should be offered to couples with euploid fetuses that have normal morphology.


Assuntos
Feminino , Humanos , Gravidez , Aberrações Cromossômicas , Hidropisia Fetal/genética , Hidropisia Fetal , Linfangioma Cístico/genética , Linfangioma Cístico , Aneuploidia , Morte Fetal/etiologia , Hidropisia Fetal/epidemiologia , Cariótipo , Cariotipagem , Linfangioma Cístico/complicações , Linfangioma Cístico/epidemiologia , Resultado da Gravidez , Diagnóstico Pré-Natal , Prognóstico , Estudos Retrospectivos , Turquia/epidemiologia , Ultrassonografia Pré-Natal
8.
Braz J Med Biol Res ; 47(9): 799-803, 2014 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-25075572

RESUMO

It has been reported that, compared with simple increased nuchal translucency, fetal cases with septated cystic hygroma (CH) are more likely to face perinatal handicaps. However, pediatric outcomes and proper prenatal counseling for this anomaly have not yet been truly defined. We performed this study to determine pregnancy and pediatric outcomes of fetuses with septated CH. We searched records for cases with septated CH and collected data for structural abnormalities, karyotype analysis, and pregnancy outcomes. Fetuses born with septated CH were also evaluated for their pediatric outcomes. Sixty-nine fetuses with septated CH were enrolled in the study. Results showed that chromosomal abnormalities were present in 28 fetuses (40.6%), and the most common aneuploidy was Turner syndrome (n=14, 20.3%); 16 (23.2%) of the remaining cases, in which aneuploidy was not found, had coexistent structural malformations; 25 (36.2%) cases had normal karyotype and morphology. The total number of live births and infants with unfavorable neurologic follow-up were 13 (18.8%) and 2 (2.9%), respectively. Septated CH is associated with poor perinatal outcomes; therefore, karyotype analysis and ultrasonographic anomaly screening should be performed as initial steps, and expectant management should be offered to couples with euploid fetuses that have normal morphology.


Assuntos
Aberrações Cromossômicas , Hidropisia Fetal/diagnóstico por imagem , Hidropisia Fetal/genética , Linfangioma Cístico/diagnóstico por imagem , Linfangioma Cístico/genética , Aneuploidia , Feminino , Morte Fetal/etiologia , Humanos , Hidropisia Fetal/epidemiologia , Cariótipo , Cariotipagem , Linfangioma Cístico/complicações , Linfangioma Cístico/epidemiologia , Gravidez , Resultado da Gravidez , Diagnóstico Pré-Natal , Prognóstico , Estudos Retrospectivos , Turquia/epidemiologia , Ultrassonografia Pré-Natal
9.
J Matern Fetal Neonatal Med ; 27(4): 342-5, 2014 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-23795710

RESUMO

OBJECTIVE: To investigate the outcome of fetuses with cystic hygroma (CH) diagnosed at the first trimester from a general population in Hong Kong. METHOD: This was a prospective study of 30 fetal cystic hygroma detected at 11 to 13 + 6 weeks' gestation in 8835 sequential unselected pregnancies. Fetal cystic hygroma was categorized as isolated cystic hygroma (ICH) or associated cystic hygroma (ACH) according to the presence of associated multiple congenital structural abnormalities (MCA). RESULTS: There were 10 cases of ICH and 20 cases of ACH. The karyotypes were obtained in 29 cases. In the ICH, 30% (3/10) were associated with chromosomal abnormalities. In the ACH, 65% (13/20) were associated with major chromosomal abnormalities. CONCLUSION: This study suggests that the prognosis of cystic hygroma detected in the first trimester is guarded, with high incidence of MCA (66.7%, 20/30) and chromosomal abnormalities (53.3%, 16/30). The findings support detailed ultrasound examination and invasive prenatal diagnosis for cystic hygroma.


Assuntos
Anormalidades Múltiplas , Transtornos Cromossômicos , Hidropisia Fetal , Linfangioma Cístico , Primeiro Trimestre da Gravidez , Diagnóstico Pré-Natal , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/epidemiologia , Adulto , Transtornos Cromossômicos/diagnóstico , Transtornos Cromossômicos/epidemiologia , Feminino , Hong Kong/epidemiologia , Humanos , Hidropisia Fetal/diagnóstico , Hidropisia Fetal/epidemiologia , Recém-Nascido , Cariotipagem , Linfangioma Cístico/diagnóstico , Linfangioma Cístico/epidemiologia , Gravidez , Diagnóstico Pré-Natal/métodos , Prevalência , Prognóstico , Estudos Prospectivos
10.
Singapore Med J ; 54(9): 487-90, 2013 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-24068055

RESUMO

INTRODUCTION: We aimed to study the profile of nonimmune hydrops fetalis (NIHF) in the local population and identify its outcomes and causes. METHODS: We carried out a retrospective review of the medical records in KK Women's and Children's hospital, a single tertiary referral centre, for pregnancies with an antenatal diagnosis of NIHF in the six-year period from 1 January 2005 to 31 December 2010. RESULTS: A total of 29 cases of NIHF were identified; 19 (66%) cases underwent karyotype evaluation, 17 (59%) underwent intrauterine infection screening, and all underwent antenatal thalassaemia screening. The median gestational age at diagnosis was 27 (range 12-37) weeks, median gestational age at birth was 33 (range 27-37) weeks, and median birth weight of live births was 2,480 (range 1,230-3,900) g. The aetiologies for NIHF were identified in 20 (69%) cases, which included cardiac anomalies (n = 5), haematological problems (n = 4), congenital tumours (n = 4), genetic/metabolic disorders (n = 4) and cystic hygromas (n = 3). The cause of NIHF was not identified in the remaining 9 (31%) cases. There were 19 live births - 8 (42%) survived and 11 (58%) died in the neonatal period - and one stillbirth. Nine women opted for medical termination of pregnancy following the diagnosis of NIHF. CONCLUSION: It is important to thoroughly investigate all cases of NIHF and identify its causes in order to provide appropriate antenatal and postnatal counselling. In our series, almost one-third of NIHF cases had no identified aetiology. The neonatal mortality rate was approximately 58%.


Assuntos
Hidropisia Fetal/epidemiologia , Diagnóstico Pré-Natal/métodos , Adulto , Diagnóstico Diferencial , Feminino , Seguimentos , Idade Gestacional , Humanos , Hidropisia Fetal/diagnóstico , Incidência , Recém-Nascido , Masculino , Gravidez , Resultado da Gravidez , Estudos Retrospectivos , Singapura/epidemiologia , Adulto Jovem
11.
J Matern Fetal Neonatal Med ; 26(3): 254-8, 2013 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-23035798

RESUMO

OBJECTIVE: To investigate the clinical characteristics of mirror syndrome. METHODS: Retrospective analysis of cases with mirror syndrome. Data of clinical manifestations, laboratory examinations, placental morphology, treatment and prognosis of these patients were obtained and studied. RESULTS: Five cases satisfying the inclusion criteria for mirror syndrome were identified from our hospital database. The incidence of the condition was 0.0154% in China. Mirror syndrome was associated with Rhesus isoimmunization, intrauterine parvovirus B19 infection, fetal neuroblastoma, fetal heart malformation and unknown cause respectively. Fetal symptoms were multi-hydrocele and fetal heart failure complicating fetal hydrops. All of the cases manifested maternal hydrops and hemodilution, the other most common symptoms included hypertension, proteinuria, hypoalbuminemia, anemia, thrombocytopenia and elevated uric acid levels. Fetal outcomes in this study were poor with a perinatal mortality rate of 100%. Placentomegaly was observed in most cases and placental morphology showed villous edema, increased intervillous fibrin deposition and one rare case of fetal adrenal neuroblastoma. Resolution of maternal symptoms was noted within 3-30 days after delivery. CONCLUSION: Mirror syndrome is associated with a substantially increased risk of fetal death and severe maternal complications. Early diagnosis of this condition during pregnancy is crucial for providing proper treatments and achieving better clinical outcomes.


Assuntos
Edema/etiologia , Hidropisia Fetal/etiologia , Relações Materno-Fetais , Complicações na Gravidez/etiologia , Isoimunização Rh/etiologia , Adulto , China/epidemiologia , Edema/complicações , Edema/epidemiologia , Edema/mortalidade , Feminino , Hospitais/estatística & dados numéricos , Humanos , Hidropisia Fetal/epidemiologia , Hidropisia Fetal/mortalidade , Relações Materno-Fetais/fisiologia , Gravidez , Complicações na Gravidez/epidemiologia , Complicações na Gravidez/mortalidade , Estudos Retrospectivos , Isoimunização Rh/complicações , Isoimunização Rh/epidemiologia , Isoimunização Rh/mortalidade , Fatores de Risco , Síndrome , Adulto Jovem
12.
J Pediatr Surg ; 47(2): 371-4, 2012 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-22325393

RESUMO

BACKGROUND: The association of urogenital (UG) anomalies and sacrococcygeal teratoma (SCT) has not been widely reported. Our aim was to look at the national incidence and presentation of this anomaly in patients with SCT and to provide the first report of a clear anatomical description of this commonly missed association. METHODS: Sacrococcygeal teratoma cases in Scotland during the last 30 years were identified. Patients with associated UG anomalies were reviewed in detail to identify their presentation, anatomy, and management. RESULTS: Fifty-three patients with SCT were identified, including 41 girls. Five girls (12%) subsequently had a UG anomaly diagnosed, which was not apparent at the initial surgery. Two patients presented with retention, and their anomaly was diagnosed at 6 weeks and 7 months of age. The other 3 presented with incontinence, and despite thorough assessment, including cystoscopy, their UG anomalies were not recognized until the ages of 7, 9, and 13 years. CONCLUSIONS: Urogenital anomalies are surprisingly common in girls with SCT. The reason for this association is unclear. None of these cases were diagnosed initially, which means that it was either missed or acquired. Urogenital anomalies should be suspected in girls with SCT and actively excluded in those with voiding difficulties.


Assuntos
Teratoma/epidemiologia , Anormalidades Urogenitais/epidemiologia , Adolescente , Criança , Comorbidade , Cistoscopia , Diagnóstico Tardio , Feminino , Humanos , Hidropisia Fetal/epidemiologia , Incidência , Recém-Nascido , Recém-Nascido Prematuro , Doenças do Prematuro/epidemiologia , Imageamento por Ressonância Magnética , Recidiva Local de Neoplasia , Estudos Retrospectivos , Região Sacrococcígea , Escócia/epidemiologia , Teratoma/cirurgia , Uretra/anormalidades , Doenças Uretrais/epidemiologia , Bexiga Urinária/anormalidades , Bexiga Urinária/cirurgia , Derivação Urinária , Fístula Urinária/epidemiologia , Transtornos Urinários/etiologia , Anormalidades Urogenitais/diagnóstico , Fístula Vaginal/epidemiologia
13.
Prenat Diagn ; 30(10): 941-9, 2010 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-20721876

RESUMO

OBJECTIVE: To determine the natural history and outcome of fetal cardiac tumors. METHODS: This was a retrospective cohort study of all prenatally detected cases of cardiac tumors at a tertiary cardiac care center. RESULTS: Forty fetuses were identified to have one or several cardiac tumors in association with fetal hydrops (18%), ventricular obstruction (30%) and/or arrhythmia (13%). Of 33 cases with rhabdomyoma, three patients elected to terminate the pregnancy, four offspring died at birth and 26 (79%) survived. On follow-up, 95% of all live-born cases with rhabdomyomas were free of cardiac symptoms but 88% had tuberous sclerosis. All three fetuses with teratoma presented with hydrops and none of them survived. In contrast, all three fetuses with cardiac fibroma are alive and have a biventricular physiology. One fetus with a large atrial hemangioendothelioma died in early infancy. Fetal or neonatal death was associated with an earlier cardiac anomaly diagnosis, earlier delivery, larger tumor size and fetal hydrops at presentation. CONCLUSIONS: The outcome of fetal cardiac tumors was predicted by the etiology and size of the cardiac mass and the presence of hydrops. Although most cardiac rhabdomyomas have a relatively benign perinatal course, the long-term prognosis is determined by the neurological manifestations associated with tuberous sclerosis.


Assuntos
Doenças Fetais/patologia , Coração Fetal/patologia , Neoplasias Cardíacas/patologia , Rabdomioma/patologia , Ultrassonografia Pré-Natal , Adulto , Arritmias Cardíacas/epidemiologia , Arritmias Cardíacas/etiologia , Arritmias Cardíacas/patologia , Canadá/epidemiologia , Estudos de Coortes , Ecocardiografia , Feminino , Doenças Fetais/epidemiologia , Coração Fetal/embriologia , Idade Gestacional , Neoplasias Cardíacas/complicações , Neoplasias Cardíacas/epidemiologia , Humanos , Hidropisia Fetal/epidemiologia , Hidropisia Fetal/etiologia , Hidropisia Fetal/patologia , Gravidez , Estudos Retrospectivos , Rabdomioma/complicações , Rabdomioma/epidemiologia , Obstrução do Fluxo Ventricular Externo/epidemiologia , Obstrução do Fluxo Ventricular Externo/etiologia , Obstrução do Fluxo Ventricular Externo/patologia
14.
J Pediatr Surg ; 45(8): 1633-9, 2010 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-20713212

RESUMO

BACKGROUND: Congenital high airway obstruction syndrome (CHAOS) is caused by complete or near-complete obstruction of the fetal airway. Obstruction sets in motion a sequence of events that can ultimately lead to fetal demise. However, on rare occasions in utero airway decompression occurs, reversing syndromic findings and improving the prognosis. In our relatively large series of CHAOS patients, we have observed a spectrum of clinical severity. The aim of this study was to identify the prenatal characteristics of CHAOS predictive of a milder postnatal course. METHODS: The medical charts of all fetuses observed at our institution with the diagnosis of CHAOS were reviewed for radiologic findings, delivery information, perinatal course, autopsy or discharge report, and long-term follow-up. RESULTS: Between 1996 and 2008, 12 fetuses with CHAOS were identified. Four fetuses had no evidence of hydrops on initial imaging. Of the 8 fetuses displaying hydrops, 3 were terminated, 2 died in utero, and 1 with multiple anomalies died at birth. Six fetuses were delivered via the ex utero intrapartum therapy procedure for attempted salvage, and 5 of the 6 survived the neonatal period including all 4 fetuses without hydrops. Serial prenatal imaging demonstrated less severe signs of CHAOS in 3 fetuses, and in 2 of them, direct laryngoscopy revealed a tiny opening in the airway. All 3 fetuses that showed improvement on serial imaging survived the neonatal period and were discharged home by 2-10 weeks of age. CONCLUSIONS: Although the natural history of CHAOS is variable, trends in prenatal ultrasound findings are highly predictive of postnatal outcome and are a valuable guide to prenatal counseling.


Assuntos
Obstrução das Vias Respiratórias/congênito , Obstrução das Vias Respiratórias/diagnóstico , Diagnóstico Pré-Natal/estatística & dados numéricos , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/epidemiologia , Obstrução das Vias Respiratórias/cirurgia , Comorbidade , Feminino , Mortalidade Fetal , Humanos , Hidropisia Fetal/epidemiologia , Hidropisia Fetal/cirurgia , Lactente , Recém-Nascido , Laringoscopia , Valor Preditivo dos Testes , Gravidez , Diagnóstico Pré-Natal/métodos , Prognóstico , Índice de Gravidade de Doença , Análise de Sobrevida , Síndrome , Ultrassonografia Pré-Natal/métodos , Ultrassonografia Pré-Natal/estatística & dados numéricos
15.
Am J Obstet Gynecol ; 203(4): 388.e1-388.e11, 2010 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-20691964

RESUMO

OBJECTIVE: To determine preoperative predictive factors for donor and recipient death after laser ablation of placental vessels in twin-to-twin transfusion syndrome. STUDY DESIGN: Retrospective analysis of North American Fetal Therapy Network center laser procedures, 2002-2009. Factors associated with donor and recipient death were identified by regression analysis. RESULTS: There were 466 patients from 8 centers. Factors significantly associated with donor fetal death were low donor estimated fetal weight (odds ratio [OR], 0.69; 95% confidence interval [CI], 0.55-0.87) and reversed end diastolic velocity in the umbilical artery (OR, 4.0; 95% CI, 1.54-10.2); for recipient fetal death-low recipient estimated fetal weight (OR, 0.65; 95% CI, 0.44-0.95), recipient reversed "a" wave in the ductus venosus (OR, 2.39; 95% CI, 1.27-4.51) and hydrops (OR, 3.7; 95% CI, 1.1-12.7); for recipient neonatal death-low donor estimated fetal weight (OR, 0.54; 95% CI, 0.30-0.95), high recipient estimated fetal weight (OR, 1.55; 95% CI, 1.06-2.26) and recipient reversed end diastolic velocity in the umbilical artery (OR, 7.8; 95% CI, 1.03-59.3). CONCLUSION: Preoperative findings predict fetal and neonatal demise in twin-to-twin transfusion syndrome treated with laser therapy.


Assuntos
Anastomose Arteriovenosa/cirurgia , Morte Fetal/etiologia , Transfusão Feto-Fetal/cirurgia , Terapia a Laser , Placenta/cirurgia , Velocidade do Fluxo Sanguíneo/fisiologia , Feminino , Peso Fetal , Fetoscopia , Humanos , Hidropisia Fetal/epidemiologia , Modelos Logísticos , Placenta/irrigação sanguínea , Gravidez , Redução de Gravidez Multifetal , Período Pré-Operatório , Estudos Retrospectivos , Fatores de Risco , Ultrassonografia Pré-Natal , Artérias Umbilicais/fisiopatologia
16.
Fetal Diagn Ther ; 26(2): 75-80, 2009.
Artigo em Inglês | MEDLINE | ID: mdl-19752518

RESUMO

OBJECTIVE: To evaluate the ability of a tumor-head volume ratio to predict outcome and incidence of hydrops in fetuses with sacrococcygeal teratoma. METHODS: Seventy-one sonograms were reviewed retrospectively from 28 fetuses with sacrococcygeal teratoma managed in our institution. Head volume (HV) and total tumor volume were calculated from sonograms. Amount of cystic tumor was estimated to determine solid tumor volume (STV) for the STV/HV ratio. RESULTS: Twenty percent of sonograms with STV/HV <1 and 97.3% with STV/HV >1 were associated with 1 or more abnormal sonographic signs (p = 0.000). Overall mortality was 11/27 (41%). There was no mortality in fetuses with a ratio of <1, while 11/18 (61%) of fetuses with ratio >1 died (p = 0.003). CONCLUSION: The STV/HV ratio may be used to identify fetuses with a high risk of a poor outcome due to high-output cardiac failure and hydrops, and may help guide management.


Assuntos
Região Sacrococcígea/patologia , Teratoma/patologia , Estudos de Coortes , Humanos , Hidropisia Fetal/diagnóstico por imagem , Hidropisia Fetal/epidemiologia , Incidência , Prognóstico , Região Sacrococcígea/diagnóstico por imagem , Teratoma/complicações , Teratoma/diagnóstico por imagem , Ultrassonografia Pré-Natal
17.
Fetal Diagn Ther ; 25(1): 83-92, 2009.
Artigo em Inglês | MEDLINE | ID: mdl-19218808

RESUMO

INTRODUCTION: The authors investigated the incidence of chromosomal abnormalities in subcutaneous oedema detected in the fetus by intrauterine ultrasonography. MATERIAL AND METHOD: In the 10-year period, intrauterine karyotyping was performed in pregnancies with positive ultrasound findings for subcutaneous oedema, such as nuchal oedema, cystic hygroma and non-immune hydrops. RESULTS: Intrauterine karyotyping in fetal subcutaneous oedema was carried out in 434 cases. The chromosomal investigation was made in nuchal oedema in 374 cases, in 120 patients the chromosomal examination was made in the first trimester because of nuchal translucency, and in 254 cases in the second trimester because of nuchal thickening. Cystic hygroma cases (27 patients), non-immune hydrops cases (20 patients), and combined cases of non-immune hydrops and cystic hygroma (13 patients) were investigated separately. In nuchal oedema, pathological karyotypes were detected in 8.33% in the first trimester and in 5.51% in the second trimester. Chromosomal abnormality was found in 48.15, 20, and 53.8% in cystic hygroma, non-immune hydrops, and combined occurrence of non-immune hydrops and cystic hygroma, respectively. Considering all of the changes accompanied by subcutaneous oedema, 50, 25 and 18.75% of the pathological karyotypes was X-monosomy, trisomy 18 and trisomy 21, respectively. DISCUSSION: It was important to distinguish nuchal oedema and cystic hygroma, and in the case of non-immune hydrops, it was also important to discuss cases with or without cystic hygroma separately. During the investigations, cases of non-immune hydrops with or without cystic hygroma were evaluated as separate categories. CONCLUSIONS: The authors emphasize the differentiation of the various types of subcutaneous oedema and the importance of precise information about the risks, provided during genetic counselling.


Assuntos
Aberrações Cromossômicas , Hidropisia Fetal/epidemiologia , Linfangioma Cístico/epidemiologia , Feminino , Humanos , Hidropisia Fetal/diagnóstico por imagem , Hidropisia Fetal/genética , Incidência , Cariotipagem , Linfangioma Cístico/diagnóstico por imagem , Linfangioma Cístico/genética , Gravidez , Primeiro Trimestre da Gravidez , Segundo Trimestre da Gravidez , Ultrassonografia
18.
Am J Perinatol ; 25(1): 43-68, 2008 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-18075961

RESUMO

Fetuses with tumors associated with hydrops have a high mortality rate. Relatively few survivors have this potentially fatal combination. This study examined the clinical and pathological findings, pathogenesis, and outcomes of fetuses with tumors and hydrops. One hundred and fifty-eight study cases were collected from the literature and from personal files. Only patients where adequate clinical and pathological data were given and the outcome of pregnancy was described were included in the study. Cardiac tumors were the majority found in association with fetal hydrops. Leukemia and extracardiac teratomas were next in frequency followed by hepatic tumors, neuroblastoma, placental, soft tissue, and renal tumors. The main presenting findings along with hydrops were hydramnios, a tumor mass, placentomegaly, and stillbirth. Most tumors were detected in the third trimester of pregnancy. No fetus with the diagnosis of cardiac rhabdomyoma, neuroblastoma, brain tumor, rhabdoid tumor, or histiocytosis associated with hydrops survived. Those patients with placental chorangioma, pericardial teratoma, and hepatic hemangioma had the best outcome. The overall survival rate was low: 30 of 158 (19%).


Assuntos
Hidropisia Fetal/epidemiologia , Neoplasias/epidemiologia , Feminino , Humanos , Recém-Nascido , Masculino , Doenças Placentárias/epidemiologia , Poli-Hidrâmnios/epidemiologia , Gravidez , Resultado da Gravidez , Estudos Retrospectivos , Natimorto/epidemiologia , Análise de Sobrevida
19.
Am Surg ; 73(8): 824-7, 2007 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-17879695

RESUMO

Injury Severity Score (ISS) and lactate are controversial in predicting fetal outcome. A retrospective review was conducted to determine whether ISS and lactate are valuable in predicting fetal survival in injured pregnant patients. Injured pregnant women were identified by ICD-9 codes from our Trauma Registry, Emergency Department Registry, and hospital medical records. Records were reviewed for demographic data, mechanism of injury, ISS, Glascow Coma Scale, lactate, vital signs, and maternal/fetal outcome. To determine statistical analysis, chi2 and t test analysis was performed. From 2001 to 2005, 294 women reported injuries. Most patients (51.7%) were discharged from the Emergency Department, yet 18 per cent were admitted to Trauma Surgery. The average maternal and gestational age was 23.4 years and 19.6 weeks, respectively. Seventy-two (33.3%) patients were in the first trimester. The majority of patients (88.1%) were involved in blunt trauma, and 10 (3.9%) had poor fetal outcome (nine fetal deaths and one hydrops fetalis). There were no maternal deaths. Maternal age, first trimester, elevated lactate, and high ISS were significant risk factors for poor fetal outcome (P = 0.044, P = 0.0173, P = 0.0001, and P = 0.0001, respectively). Specific parameters (ISS, lactate, maternal age, and gestational age) may be helpful in predicting poor fetal outcome and directing patient management.


Assuntos
Morte Fetal/etiologia , Hidropisia Fetal/etiologia , Complicações na Gravidez , Resultado da Gravidez , Ferimentos e Lesões/complicações , Adolescente , Adulto , Feminino , Morte Fetal/epidemiologia , Idade Gestacional , Humanos , Hidropisia Fetal/epidemiologia , Incidência , Escala de Gravidade do Ferimento , Gravidez , Estudos Retrospectivos , Fatores de Risco , Virginia/epidemiologia
20.
Rev. Soc. Bras. Med. Trop ; 39(5): 467-472, set.-out. 2006. tab
Artigo em Português | LILACS | ID: lil-439898

RESUMO

Com o objetivo de medir a prevalência de anticorpos IgG contra o parvovírus B19 em gestantes com até 24 semanas de idade gestacional e detectar a ocorrência de casos de hidropisia fetal não-imune atribuídos a esse vírus, coletamos 249 amostras de soro em uma maternidade de referência na cidade do Rio de Janeiro, entre junho de 2003 e março de 2005. As gestantes foram acompanhadas até o termo da gestação, sendo detectados 17 casos de hidropisia fetal. Quatro casos foram atribuídos ao parvovírus B19 e dois destes ocorreram em gestantes residentes na zona oeste da cidade, em fevereiro de 2005. Resultados positivos para anticorpos IgG antiparvovírus B19 foram encontrados em 172 (71,6 por cento) gestantes (IC 95 por cento 65,5-77,7 por cento), sendo esta prevalência de anticorpos comparável à encontrada em outras cidades brasileiras. A única variável associada com aquisição prévia de anticorpos IgG foi número de gestações anteriores maior que um(p= 0,02, IC 95 por cento 0,36-0,94).


With the aim of measuring the prevalence of anti-parvovirus B19 IgG antibodies during pregnancy up to 24 weeks of gestation and detecting cases of nonimmune hydrops fetalis, 249 sera from pregnant women attending a reference hospital in Rio de Janeiro city, from June 2003 to November 2004 were collected. They were followed-up until the end of pregnancy, with 17 cases of fetal hydrops detected. Four cases were caused by parvovirus B19 and two of them occurred in pregnant women living in the western zone of the city, during February 2005. Anti-parvovirus B19 IgG antibodies were found in 172 (71.6 percent) pregnant women (CI 95 percent 65.5 percent-77.7 percent); this antibody prevalence is similar to results found for others Brazilian cities. The only variable associated with previous acquisition of IgG antibodies to parvovirus B19 was number of pregnancies greater than one (p= 0.02, CI 95 percent 0.36-0.94).


Assuntos
Humanos , Feminino , Gravidez , Adolescente , Adulto , Pessoa de Meia-Idade , Hidropisia Fetal/virologia , Infecções por Parvoviridae/epidemiologia , /imunologia , Complicações Infecciosas na Gravidez/virologia , Anticorpos Antivirais/sangue , Brasil/epidemiologia , Hidropisia Fetal/diagnóstico , Hidropisia Fetal/epidemiologia , Imunoglobulina G/sangue , Prevalência , Infecções por Parvoviridae/diagnóstico , Complicações Infecciosas na Gravidez/diagnóstico , Complicações Infecciosas na Gravidez/epidemiologia , Fatores de Risco
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