Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 807
Filtrar
1.
BMJ Case Rep ; 14(10)2021 Oct 13.
Artigo em Inglês | MEDLINE | ID: mdl-34645629

RESUMO

A 22-year-old pregnant woman was referred to our fetal medicine unit due to severe fetal growth restriction at 26 weeks of gestation. An extensive detailed ultrasound revealed signs of bilateral periventricular hyperechogenicity, suggesting fetal infection potentially due to cytomegalovirus (CMV). Doppler ultrasound showed a high peak systolic velocity in the middle cerebral artery. Percutaneous umbilical cord blood sampling confirmed fetal CMV infection and severe fetal anaemia. We present this case to highlight the importance of fetal anaemia, which can be fatal regardless of whether it is associated with generalised oedema or hydrops fetalis.


Assuntos
Anemia , Infecções por Citomegalovirus , Adulto , Anemia/etiologia , Infecções por Citomegalovirus/complicações , Feminino , Retardo do Crescimento Fetal/diagnóstico por imagem , Retardo do Crescimento Fetal/etiologia , Feto , Humanos , Hidropisia Fetal/diagnóstico por imagem , Hidropisia Fetal/etiologia , Gravidez , Ultrassonografia Pré-Natal , Adulto Jovem
2.
Pan Afr Med J ; 39: 116, 2021.
Artigo em Francês | MEDLINE | ID: mdl-34512852

RESUMO

Ballantyne syndrome or mirror syndrome was first described in 1892. It is a disorder affecting pregnant women describing the association of fetal anasarca complicated by more or less generalized maternal edema and albuminuria (and sometimes anemia). It is a rare clinical entity. Diagnosis is based on a triad consisting of fetal hydrops, generalized maternal edema and placentomegaly. It can be associated with fetal hydrops from any cause. Diagnostic should be suspected in patients with maternal edema syndrome associated with fetal anasarca. Guarded fetal prognosis can be associated with high maternal morbidity; hence the need for early diagnosis, resting on a clear determination of its cause, and aimed to implement antenatal treatment improving maternal and fetal prognosis. We here report a unique case of Ballantyne syndrome which has never been described in the literature. The study involved a 32-year-old female patient with fetal hydrops caused by fetal cardiac rhabdomyoma.


Assuntos
Doenças Fetais/diagnóstico , Neoplasias Cardíacas/diagnóstico , Complicações na Gravidez/diagnóstico , Rabdomioma/diagnóstico , Adulto , Edema/diagnóstico , Edema/patologia , Feminino , Doenças Fetais/fisiopatologia , Neoplasias Cardíacas/patologia , Humanos , Hidropisia Fetal/diagnóstico , Hidropisia Fetal/etiologia , Doenças Placentárias/diagnóstico , Doenças Placentárias/patologia , Gravidez , Complicações na Gravidez/fisiopatologia , Prognóstico , Rabdomioma/patologia , Síndrome
3.
J Perinatol ; 41(10): 2544-2548, 2021 10.
Artigo em Inglês | MEDLINE | ID: mdl-34489542

RESUMO

OBJECTIVE: To determine the etiology and outcome of non-immune hydrops fetalis (NIHF) according to gestational age at diagnosis and intrauterine treatment. STUDY DESIGN: A total of 122 NIHF cases were included. Medical records and ultrasonographic images were reviewed. The etiology, outcome, and intrauterine treatment were assessed. RESULTS: The etiology was determined in 100 cases, and Hb Bart's disease was the most common. Two cases each of homozygous Southeast Asian ovalocytosis (SAO) and hemoglobin Constant Spring (Hb CS) were found. NIHF diagnosed in early gestation (<24 weeks) had a higher rate of chromosomal abnormalities and fetal demise. Intrauterine treatment was given in 18 cases, and 50% had successful live births. CONCLUSION: Hb Bart's disease was the most common cause of NIHF. SAO and Hb CS were associated with hydrops. NIHF in gestational age <24 weeks was associated with chromosomal abnormalities and fetal demise. Intrauterine treatment should be offered in selected cases.


Assuntos
Hidropisia Fetal , Diagnóstico Pré-Natal , Feminino , Morte Fetal , Idade Gestacional , Humanos , Hidropisia Fetal/diagnóstico , Hidropisia Fetal/etiologia , Hidropisia Fetal/terapia , Lactente , Gravidez , Ultrassonografia Pré-Natal
4.
Rev Colomb Obstet Ginecol ; 72(2): 149-161, 2021 Jun 30.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-34506702

RESUMO

Objective: To report four cases of hydrops fetalis secondary to congenital syphilis and carry out a review of the literature to answer the question, What is the antibiotic regimen used in cases of gestational syphilis with hydrops fetalis as a complication? Materials and Methods: Four cases of congenital syphilis with hydrops fetalis are presented. Maternal age ranged between 17 and 28 years, gestational age at the time of diagnosis varied between 25 and 30 weeks, and two of the mothers had not initiated prenatal care at that time. Treatment with crystalline penicillin for gestational syphilis was given immediately 6 to 12 weeks before delivery in three cases and partners were prescribed treatment with benzathine penicillin. As for the neonates, two had no active infection or sequelae and one of them was considered to have congenital syphilis based on non-treponemal test titers. In one case, the patient was unable to receive syphilis treatment before delivery and her newborn had signs of active infection. A review of the literature was conducted in the Medline, LILACS and Google Scholar databases using the search terms "hydrops fetalis," "Lues", "syphilis ­ prenatal diagnosis - ultrasound - penicillin ­ treatment". The search included case reports and case series or cohorts of newborns with gestational syphilis and hydrops fetalis. Information regarding treatment in the mothers and in the newborns was extracted. Results: Overall, 119 articles were identified. Of these, 13 met the inclusion criteria, three were discarded because the full text could not be accessed. Ten studies with a total of 16 reported cases of hydrops fetalis secondary to congenital infection were reported. Of these, three presented with severe fetal anemia and required intrauterine transfusion; 5 cases received intrauterine penicillin treatment. In four cases the mother received weekly intramuscular injections of benzathine penicillin for 3 weeks, one received additional intravenous crystalline penicillin for 13 days, while another one received intravenous crystalline penicillin for 14 days. Treatment during gestation was not given in a total of 11 cases; and 6 of the 16 cases (37.5%) resulted in perinatal death. Conclusion: Delays in prenatal care and late diagnosis and treatment of gestational syphilis are important causes of persistent congenital syphilis. Randomized studies are required to identify the best treatment in fetuses with congenital syphilis 30 days before delivery and in fetuses with systemic compromise during the second half of gestation.


Assuntos
Sífilis Congênita , Colômbia/epidemiologia , Feminino , Hospitais , Humanos , Hidropisia Fetal/diagnóstico , Hidropisia Fetal/tratamento farmacológico , Hidropisia Fetal/etiologia , Lactente , Recém-Nascido , Penicilina G Benzatina/uso terapêutico , Gravidez , Encaminhamento e Consulta , Sífilis Congênita/complicações , Sífilis Congênita/diagnóstico , Sífilis Congênita/tratamento farmacológico
5.
Medicina (Kaunas) ; 57(7)2021 Jun 28.
Artigo em Inglês | MEDLINE | ID: mdl-34203545

RESUMO

Coronavirus disease 2019 (COVID-19) has rapidly evolved into a worldwide pandemic causing a serious global public health problem. The risk of vertical transmission of SARS-CoV-2 is still debated, and the consequences of this virus on pregnant women and their fetuses remain unknown. We report a case of pregnancy complicated with hydrops fetalis that developed 7 weeks after recovery from a mild SARS-CoV-2 infection, leading to intrauterine death of the foetus. Evidence of SARS-CoV-2 placentitis was demonstrated by the presence of viral particles in the placenta identified by immunohistochemistry. As we excluded all possible etiological factors for non-immunologic hydrops fetalis, we believe that the fetal consequences of our case are related to vertical transmission of SARS-CoV-2 virus. To the best of our knowledge, this is the second reported case in the literature of COVID-19 infection complicated with hydrops fetalis and intrauterine fetal demise.


Assuntos
COVID-19 , Complicações Infecciosas na Gravidez , Feminino , Morte Fetal/etiologia , Humanos , Hidropisia Fetal/etiologia , Gravidez , Complicações Infecciosas na Gravidez/diagnóstico , SARS-CoV-2 , Natimorto
6.
BMJ Case Rep ; 14(4)2021 Apr 16.
Artigo em Inglês | MEDLINE | ID: mdl-33863770

RESUMO

A Chinese male infant was born at 35 weeks weighing 2935 g to a mother with polyhydramnios and prenatal hydrops fetalis. He developed marked respiratory distress secondary to bilateral congenital chylothorax and required pleural drainage, high frequency oscillation and inhaled nitric oxide therapy. He was extubated to non-invasive ventilation by day 14. There was no bacterial or intrauterine infection, haematologic, chromosomal or cardiac disorder. He was exclusively fed medium-chain triglyceride formula. High-resolution CT showed diffuse interstitial lung disease. He received a dexamethasone course for chronic lung disease to facilitate supplemental oxygen weaning. A multidisciplinary team comprising neonatology, pulmonology, haematology, interventional radiology and thoracic surgery considered congenital pulmonary lymphangiectasia as the most likely diagnosis and advised open lung biopsy, lymphangiography or scintigraphy for diagnostic confirmation should symptoms of chylothorax recur. Fortunately, he was weaned off oxygen at 5 months of life, and tolerated human milk challenge at 6 months of life and grew well.


Assuntos
Quilotórax , Hidropisia Fetal , Doenças Pulmonares Intersticiais , Quilotórax/complicações , Quilotórax/congênito , Quilotórax/diagnóstico , Humanos , Hidropisia Fetal/etiologia , Recém-Nascido , Doenças Pulmonares Intersticiais/complicações , Doenças Pulmonares Intersticiais/diagnóstico , Masculino
7.
J Obstet Gynaecol Res ; 47(3): 1191-1194, 2021 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-33522070

RESUMO

We experienced a case with fetal hydrops, polyhydramnios, and a well-defined oval anechoic lesion of approximately 9 cm in size, without blood flow at 26 weeks' gestation. As increased middle cerebral artery peak systolic velocity, the fetal hydrops was caused by a placental tumor such as a chorioangioma; however, the tumor was atypical. Fetal blood hemoglobin was 8.3 g/dl on percutaneous umbilical cord blood sampling. After erythrocytes transfusion to the fetus, the mother normally delivered at 38 weeks' gestation. The placental tumor was histologically diagnosed as a necrotic chorioangioma. Obstetricians should note such atypical chorioangiomas when differential diagnosis of placental tumors.


Assuntos
Hemangioma , Doenças Placentárias , Poli-Hidrâmnios , Transfusão de Sangue , Feminino , Hemangioma/terapia , Humanos , Hidropisia Fetal/diagnóstico por imagem , Hidropisia Fetal/etiologia , Placenta/diagnóstico por imagem , Doenças Placentárias/diagnóstico , Gravidez , Ultrassonografia Pré-Natal
8.
Pan Afr Med J ; 38: 1, 2021.
Artigo em Francês | MEDLINE | ID: mdl-33520070

RESUMO

Congenital upper airway obstruction syndrome is a rare malformation that can be fatal to a newborn baby. It is defined as a complete or almost complete obstruction of the upper airways. CHAOS rate is unknown. We here report the case of a 24-year-old primiparous patient with no medical or surgical history. First-trimester ultrasound didn't show any abnormality. During the second trimester, ultrasonography showed extensive subcutaneous edema, hypertrophied lung with hyperechoic appearance, hypoplastic heart and large-volume ascites associated with severe oligoamnios. After having excluded the most common causes, including isoimmunization (indirect negative Coombs), infections (negative serologies) kariotiping was not performed because the patient refused it. The results of ultrasonography suggested fetal hydrops secondary to CHAOS syndrome, because of pathognomonic signs of pulmonary hypertrophy with inverted or convex diaphragm. MRI was requested; it suggested CHAOS syndrome associated with other malformations: laryngeal atresia, microphthalmia with hypertelorism and deviation of the nasal septum with lack of visualization of the thymic tissue, no clear identification of the bladder, absence of right kidney and hypoplastic left kidney. The outcome of pregnancy was marked by premature labour at the 24th week of amenorrhea. The baby had a birth weight of 1475g, polimalformations such as sexual ambiguity, distended abdomen and polydactyly . The newborn died 3 min after birth. Karyotyping was performed which showed 46XX.


Assuntos
Obstrução das Vias Respiratórias/diagnóstico por imagem , Anormalidades Congênitas/diagnóstico por imagem , Hidropisia Fetal/diagnóstico por imagem , Obstrução das Vias Respiratórias/complicações , Obstrução das Vias Respiratórias/congênito , Anormalidades Congênitas/fisiopatologia , Evolução Fatal , Feminino , Humanos , Hidropisia Fetal/etiologia , Recém-Nascido , Cariotipagem , Gravidez , Resultado da Gravidez , Síndrome , Ultrassonografia Pré-Natal , Adulto Jovem
10.
BMJ Case Rep ; 13(10)2020 Oct 10.
Artigo em Inglês | MEDLINE | ID: mdl-33040036

RESUMO

A 21-year-old G3P2011 Caucasian woman at 27 weeks' gestation presented with fetal tachyarrhythmia between 240 and 270 beats per minute. Fetal supraventricular tachycardia, abdominal ascites, pleural effusion and pericardial effusion indicated hydrops fetalis. Management with digoxin and flecainide converted the fetus to sinus rhythm and resolved the ascites and pleural effusion within 4 days of treatment. Flecainide was discontinued at 31 weeks' gestation due to elevated liver enzymes. Intrahepatic cholestasis was treated with ursodiol. Caesarean section was performed at 37 weeks' gestation. Neonatal echocardiogram revealed a bicuspid aortic valve with mild regurgitation and a patent foramen ovale, and the infant showed no subsequent evidence of tachyarrhythmia or hydrops after delivery. Treatment of hydrops fetalis in the antenatal period is complex, and early diagnosis and treatment can quickly resolve supraventricular tachycardia-induced hydrops fetalis.


Assuntos
Antiarrítmicos/uso terapêutico , Terapias Fetais/métodos , Hidropisia Fetal/tratamento farmacológico , Taquicardia Supraventricular/tratamento farmacológico , Cesárea , Digoxina/uso terapêutico , Ecocardiografia , Feminino , Flecainida/uso terapêutico , Humanos , Hidropisia Fetal/diagnóstico , Hidropisia Fetal/etiologia , Gravidez , Taquicardia Supraventricular/complicações , Taquicardia Supraventricular/diagnóstico , Resultado do Tratamento , Ultrassonografia Pré-Natal , Adulto Jovem
11.
Blood ; 136(11): 1274-1283, 2020 09 10.
Artigo em Inglês | MEDLINE | ID: mdl-32702750

RESUMO

Congenital dyserythropoietic anemias (CDAs) are a heterogeneous group of inherited anemias that affect the normal differentiation-proliferation pathways of the erythroid lineage. They belong to the wide group of ineffective erythropoiesis conditions that mainly result in monolinear cytopenia. CDAs are classified into the 3 major types (I, II, III), plus the transcription factor-related CDAs, and the CDA variants, on the basis of the distinctive morphological, clinical, and genetic features. Next-generation sequencing has revolutionized the field of diagnosis of and research into CDAs, with reduced time to diagnosis, and ameliorated differential diagnosis in terms of identification of new causative/modifier genes and polygenic conditions. The main improvements regarding CDAs have been in the study of iron metabolism in CDAII. The erythroblast-derived hormone erythroferrone specifically inhibits hepcidin production, and its role in the mediation of hepatic iron overload has been dissected out. We discuss here the most recent advances in this field regarding the molecular genetics and pathogenic mechanisms of CDAs, through an analysis of the clinical and molecular classifications, and the complications and clinical management of patients. We summarize also the main cellular and animal models developed to date and the possible future therapies.


Assuntos
Anemia Diseritropoética Congênita/genética , Anemia Diseritropoética Congênita/classificação , Anemia Diseritropoética Congênita/diagnóstico , Anemia Diseritropoética Congênita/terapia , Animais , Transfusão de Sangue , Diagnóstico Diferencial , Modelos Animais de Doenças , Heterogeneidade Genética , Glicoproteínas/genética , Glicoproteínas/fisiologia , Transplante de Células-Tronco Hematopoéticas , Hepcidinas , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Hidropisia Fetal/diagnóstico , Hidropisia Fetal/etiologia , Sobrecarga de Ferro/etiologia , Fatores de Transcrição Kruppel-Like/genética , Fatores de Transcrição Kruppel-Like/fisiologia , Camundongos , Camundongos Knockout , Proteínas Associadas aos Microtúbulos/genética , Proteínas Associadas aos Microtúbulos/fisiologia , Técnicas de Diagnóstico Molecular , Proteínas Nucleares/genética , Proteínas Nucleares/fisiologia , Hormônios Peptídicos/fisiologia , Proteínas de Transporte Vesicular/genética , Proteínas de Transporte Vesicular/fisiologia , Peixe-Zebra
12.
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
14.
Fetal Diagn Ther ; 47(9): 717-720, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32570238

RESUMO

INTRODUCTION: Supraventricular tachycardia is the most common fetal tachyarrhythmia and if persistent often associated with fetal hydrops which can cause intrauterine and neonatal death. CASE PRESENTATION: We present a case of early second trimester supraventricular tachycardia in a hydropic fetus, initially refractory to transplacental treatment. CONCLUSION: The supraventricular tachycardia was successfully treated when supplemented with intraperitoneal flecainide in the fetus.


Assuntos
Antiarrítmicos/uso terapêutico , Flecainida/uso terapêutico , Hidropisia Fetal/etiologia , Taquicardia Supraventricular/tratamento farmacológico , Adulto , Feminino , Terapias Fetais , Humanos , Gravidez , Segundo Trimestre da Gravidez , Taquicardia Supraventricular/complicações , Resultado do Tratamento
15.
BMC Pediatr ; 20(1): 186, 2020 04 27.
Artigo em Inglês | MEDLINE | ID: mdl-32340629

RESUMO

BACKGROUND: Hydrops fetalis as well as abdominal compartment syndrome (ACS) are conditions that are associated with high mortality rates. A rare case of immature gastric teratoma causing fetal hydrops and subsequent ACS is presented. The related pathophysiologic mechanisms are discussed, and the importance of timely recognition and appropriate interventions are highlighted. CASE PRESENTATION: The male patient was born preterm, weighing 3.9 kg., by Cesarean section. Prior prenatal ultrasounds were normal, but a scan done just before delivery had findings indicating polyhydramnios, fetal ascites, and meconium peritonitis. Upon delivery, the patient had respiratory distress, anasarca and a massively distended abdomen. Resuscitation measures, including ventilatory support, were instituted. Imaging studies showed ascites as well as a large, complex intra-abdominal lesion with calcifications. In the succeeding hours, anuria persisted, anasarca worsened, the abdomen became more distended, and inotrope requirements increased. The occurrence of ACS, from what was presumed to be a retroperitoneal teratoma, was therefore considered. Laparotomy was done on the 28th hour of life, with en bloc excision of a massive tumor and attached section of the greater curvature of the stomach. Passage of urine occurred intra-operatively, and the patient was soon after weaned off inotropes and ventilator support. The histopathologic result was immature gastric teratoma. No chemotherapy was given, and the patient's serum AFP is at normal levels 15 months following surgery. CONCLUSION: The presence of a massive intra-abdominal lesion can result in the pathophysiologic continuum of hydrops fetalis and neonatal ACS. The early recognition of such an association can enable appropriate expectant management of similarly affected neonates, including emergent decompression laparotomy.


Assuntos
Hipertensão Intra-Abdominal , Poli-Hidrâmnios , Teratoma , Cesárea , Feminino , Humanos , Hidropisia Fetal/diagnóstico , Hidropisia Fetal/etiologia , Recém-Nascido , Hipertensão Intra-Abdominal/diagnóstico , Hipertensão Intra-Abdominal/etiologia , Hipertensão Intra-Abdominal/terapia , Masculino , Gravidez , Teratoma/complicações , Teratoma/diagnóstico , Teratoma/cirurgia
16.
Prenat Diagn ; 40(6): 738-745, 2020 05.
Artigo em Inglês | MEDLINE | ID: mdl-32134517

RESUMO

OBJECTIVES: Nonimmune hydrops fetalis (NIHF) accounts for 90% of hydrops fetalis cases. About 15% to 29% of unexplained NIHF cases are caused by lysosomal storage diseases (LSD). We review the spectrum of LSD and associated clinical findings in NIHF in a cohort of patients referred to our institution. METHODS: We present a retrospective case-control study of cases with NIHF referred for LSD biochemical testing at a single center. Cases diagnosed with LSD were matched to controls with NIHF and negative LSD testing and analyzed according to the STROBE criteria to the extent the retrospective nature of this study allowed. RESULTS: Between January 2006 and December 2018, 28 patients with NIHF were diagnosed with a LSD. Eight types of LSD were diagnosed: galactosialidosis 8/28 (28.6%), sialic acid storage disease (SASD) 5/28 (17.9%), mucopolysaccharidosis VII 5/28 (17.9%), Gaucher 4/28 (14.3%), sialidosis 2/28 (7.1%), GM1 gangliosidosis 2/28 (7.1%), Niemann-Pick disease type C 1/28 (3.6%), and mucolipidosis II/III 1/28 (3.6%). Associated clinical features were hepatomegaly 16/21 (76.2%) vs 22/65 (33.8%), P < .05, splenomegaly 12/20 (60.0%) vs 14/58 (24.1%), P < .05, and hepatosplenomegaly 10/20 (50.0%) vs 13/58 (22.4%) P < .05. CONCLUSION: The most common LSD in NIHF were galactosialidosis, SASD, mucopolysaccharidosis VII, and Gaucher disease. LSD should be considered in unexplained NIHF cases, particularly if hepatomegaly, splenomegaly, or hepatosplenomegaly is visualized on prenatal ultrasound.


Assuntos
Hidropisia Fetal/etiologia , Doenças por Armazenamento dos Lisossomos/complicações , Adulto , Ascite/diagnóstico por imagem , Estudos de Casos e Controles , Edema/diagnóstico por imagem , Feminino , Doença de Gaucher/complicações , Doença de Gaucher/diagnóstico , Idade Gestacional , Hepatomegalia/diagnóstico por imagem , Humanos , Hidropisia Fetal/diagnóstico por imagem , Recém-Nascido , Doenças por Armazenamento dos Lisossomos/diagnóstico , Masculino , Mucolipidoses/complicações , Mucolipidoses/diagnóstico , Mucopolissacaridose VII/complicações , Mucopolissacaridose VII/diagnóstico , Doença de Niemann-Pick Tipo C/complicações , Doença de Niemann-Pick Tipo C/diagnóstico , Derrame Pericárdico/diagnóstico por imagem , Derrame Pleural/diagnóstico por imagem , Poli-Hidrâmnios/diagnóstico por imagem , Gravidez , Diagnóstico Pré-Natal , Estudos Retrospectivos , Doença do Armazenamento de Ácido Siálico/complicações , Doença do Armazenamento de Ácido Siálico/diagnóstico , Pele/diagnóstico por imagem , Esplenomegalia/diagnóstico por imagem , Adulto Jovem
17.
Ultrasound Obstet Gynecol ; 56(3): 416-421, 2020 09.
Artigo em Inglês | MEDLINE | ID: mdl-32196790

RESUMO

OBJECTIVE: Fetal hydrops is associated with increased perinatal morbidity and mortality. The etiology and outcome of fetal hydrops may differ according to the gestational age at diagnosis. The aim of this study was to evaluate the cause, evolution and outcome of non-immune fetal hydrops (NIFH), according to the gestational age at diagnosis. METHODS: This was a retrospective cohort study of all singleton pregnancies complicated by NIFH, at the Fetal Medicine Unit at St George's University Hospital, London, UK, between 2000 and 2018. All fetuses had detailed anomaly and cardiac ultrasound scans, karyotyping and infection screening. Prenatal diagnostic and therapeutic intervention, gestational age at diagnosis and delivery, as well as pregnancy outcome, were recorded. Regression analysis was used to test for potential association between possible risk factors and perinatal mortality. RESULTS: We included 273 fetuses with NIFH. The etiology of the condition varied significantly in the three trimesters. Excluding 30 women who declined invasive testing, the cause of NIFH was defined as unknown in 62 of the remaining 243 cases (25.5%). Chromosomal aneuploidy was the most common cause of NIFH in the first trimester. It continued to be a significant etiologic factor in the second trimester, along with congenital infection. In the third trimester, the most common etiology was cardiovascular abnormality. Among the 152 (55.7%) women continuing the pregnancy, 48 (31.6%) underwent fetal intervention, including the insertion of pleuroamniotic shunts, fetal blood transfusion and thoracentesis. Fetal intervention was associated significantly with lower perinatal mortality (odds ratio (OR), 0.30 (95% CI, 0.14-0.61); P < 0.001); this association remained significant after excluding cases with a diagnosis of anemia or infection (OR, 0.29 (95% CI, 0.13-0.66); P = 0.003). In 104 fetuses not undergoing active fetal intervention, the gestational age at diagnosis was the only parameter that was significantly associated with the risk of perinatal mortality (OR, 0.92 (95% CI, 0.85-0.99); P = 0.035), while the affected body cavity and polyhydramnios were not (P > 0.05). CONCLUSIONS: An earlier gestational age at diagnosis of NIFH was associated with an increased risk of aneuploidy and worse pregnancy outcome, including a higher risk of perinatal loss. Fetal therapy was associated significantly with lower perinatal mortality. © 2020 Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.


Assuntos
Hidropisia Fetal/mortalidade , Diagnóstico Pré-Natal , Adulto , Inglaterra/epidemiologia , Feminino , Idade Gestacional , Humanos , Hidropisia Fetal/diagnóstico , Hidropisia Fetal/etiologia , Gravidez , Resultado da Gravidez , Trimestres da Gravidez , Análise de Regressão , Fatores de Risco , Adulto Jovem
18.
Prenat Diagn ; 40(4): 492-496, 2020 03.
Artigo em Inglês | MEDLINE | ID: mdl-31981373

RESUMO

PURPOSE: Chromosomal microarray (CMA) is recommended in the diagnostic evaluation of cases with fetal structural anomalies when invasive testing is pursued. However, the utility of CMA for nonimmune hydrops fetalis (NIHF) specifically is not well known. Our objective was to describe the overall yield of CMA in the diagnostic evaluation of NIHF, comparing isolated cases to those with concurrent structural anomalies. METHODS: This was a retrospective cohort study of all prenatally diagnosed NIHF cases evaluated at the University of California, San Francisco from 2008 to 2018. NIHF due to twin-twin transfusion syndrome was excluded. RESULTS: There were 131 cases of prenatally diagnosed NIHF. In 43/44 cases with a CMA performed, results were categorized as normal or likely benign. One case was found on CMA to have a large pathogenic duplication of 21p11.2q22.3, which could have been detected by karyotype and was consistent with a diagnosis of Down syndrome. There was no incremental yield demonstrated for CMA over karyotype. CONCLUSIONS: Among a cohort of prenatally diagnosed NIHF cases, CMA did not identify any copy number variants beyond those detectable by karyotype, and the vast majority of CMAs were normal. These results suggest that CMA has low diagnostic utility for NIHF.


Assuntos
Transtornos Cromossômicos/diagnóstico , Anormalidades Congênitas/genética , Hidropisia Fetal/etiologia , Cariotipagem/métodos , Análise em Microsséries/métodos , Adolescente , Adulto , Transtornos Cromossômicos/complicações , Estudos de Coortes , Síndrome de Down/complicações , Síndrome de Down/diagnóstico , Feminino , Humanos , Pessoa de Meia-Idade , Gravidez , Estudos Retrospectivos , Síndrome de Turner/complicações , Síndrome de Turner/diagnóstico , Ultrassonografia Pré-Natal , Adulto Jovem
19.
Prenat Diagn ; 40(2): 206-215, 2020 01.
Artigo em Inglês | MEDLINE | ID: mdl-31742724

RESUMO

INTRODUCTION: The clinical importance of mass effect from congenital lung masses on the fetal heart is unknown. We aimed to report cardiac measurements in fetuses with congenital lung masses and to correlate lung mass severity/size with cardiac dimensions and clinical outcomes. METHODS: Cases were identified from our institutional database between 2009 and 2016. We recorded atrioventricular valve (AVVz) annulus dimensions and ventricular widths (VWz) converted into z scores, ratio of aortic to total cardiac output (AoCO), lesion side, and congenital pulmonary airway malformation volume ratio (CVR). Respiratory intervention (RI) was defined as intubation, extracorporeal membrane oxygenation (ECMO), or use of surgical intervention prior to discharge. RESULTS: Fifty-two fetuses comprised the study cohort. Mean AVVz and VWz were below expected for gestational age. CVR correlated with ipsilateral AVVz (RS = -.59, P < .001) and ipsilateral VWz (-0.59, P < .001). Lower AVVz and AoCO and higher CVR were associated with RI. No patient had significant structural heart disease identified postnatally. CONCLUSION: In fetuses with left-sided lung masses, ipsilateral cardiac structures tend to be smaller, but in our cohort, there were no patients with structural heart disease. However, smaller left-sided structures may contribute to the need for RI that affects a portion of these fetuses.


Assuntos
Coração Fetal/diagnóstico por imagem , Cardiopatias Congênitas/diagnóstico por imagem , Valvas Cardíacas/diagnóstico por imagem , Pneumopatias/diagnóstico por imagem , Valva Aórtica/diagnóstico por imagem , Valva Aórtica/patologia , Débito Cardíaco , Ecocardiografia , Oxigenação por Membrana Extracorpórea , Feminino , Coração Fetal/patologia , Coração Fetal/fisiopatologia , Idade Gestacional , Cardiopatias Congênitas/etiologia , Cardiopatias Congênitas/terapia , Valvas Cardíacas/patologia , Humanos , Hidropisia Fetal/diagnóstico por imagem , Hidropisia Fetal/etiologia , Recém-Nascido , Intubação Intratraqueal , Pneumopatias/complicações , Pneumopatias/congênito , Pneumopatias/terapia , Imageamento por Ressonância Magnética , Valva Mitral/diagnóstico por imagem , Valva Mitral/patologia , Tamanho do Órgão , Gravidez , Valva Pulmonar/diagnóstico por imagem , Valva Pulmonar/patologia , Respiração Artificial/estatística & dados numéricos , Volume Sistólico , Valva Tricúspide/diagnóstico por imagem , Valva Tricúspide/patologia , Ultrassonografia Pré-Natal
20.
J Obstet Gynaecol ; 40(5): 649-653, 2020 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-31462132

RESUMO

The aim of this study was to evaluate the maternal and neonatal outcomes of patients who underwent intrauterine transfusion (IUT) for foetal anaemia due to red blood cell alloimmunisation and to determine the factors that affected the outcomes. All pregnancies that were treated with IUT due to Rh immunisation between January 2015 and June 2018 in the Kanuni Sultan Süleyman Training and Research Hospital, Department of Obstetrics and Gynaecology, were evaluated retrospectively. IUT due to non-Rh alloimmunisation, parvovirus B19 infection, chronic fetomaternal haemorrhage and foetal anaemia due to homozygous alpha-thalassemia were not included in the study. The perinatal and neonatal outcomes of the patients were retrospectively analysed. The gestational age, ultrasonography findings before and after IUT, laboratory results, complications related to IUT, and data on the newborns were recorded. The cases were divided into two groups, those with complication and those without complications, and their perinatal outcomes were compared. A total of 110 IUTs were performed in 42 foetuses. The survival rate after transfusion was 80.95%. Procedure-related complications were found in 12.7% of cases. There were no significant differences between the demographic and clinical characteristics of the patients with and without complications. The survival rate was lower and perinatal mortality was higher in foetuses with hydrops fetalis. IUT is a safe and effective procedure that can be used in the treatment of foetal anaemia in experienced centres. Survival rates can be increased by referring patients to experienced perinatology centres, by improving the IUT technique, and by reducing technique-related complications.Impact statementWhat is already known on this subject? The predominant use of IUT is to treat foetal anaemia due to red blood cell alloimmunisation. Despite the decrease after anti-D immune globulin prophylaxis, Rh immunisation is still a major cause of foetal anaemia. However, foetal survival rates have increased with the use of IUT.What do the results of this study add? The survival rates were increased after the development of a high-resolution ultrasound. Because foetal monitoring can be performed by ultrasonography, cord accidents and overload findings can be detected during transfusion, which allows for early interventions and increases survival rates.What are the implications of these findings for clinical practice and/or further research? The IUT procedure can be used in the treatment of foetal anaemia in experienced centres. After the technique was improved, the complication rates related to the procedure were decreased and foetal survival rates were increased. Further studies on the use of different IUT techniques will extend our findings.


Assuntos
Anemia Hemolítica Autoimune/terapia , Transfusão de Sangue Intrauterina/métodos , Doenças Fetais/terapia , Adulto , Anemia Hemolítica Autoimune/etiologia , Transfusão de Sangue Intrauterina/efeitos adversos , Estudos de Casos e Controles , Feminino , Doenças Fetais/etiologia , Sofrimento Fetal/etiologia , Humanos , Hidropisia Fetal/etiologia , Hidropisia Fetal/mortalidade , Recém-Nascido , Gravidez , Estudos Retrospectivos , Isoimunização Rh/complicações , Ultrassonografia Pré-Natal
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA
...