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1.
Clin Genet ; 105(4): 386-396, 2024 04.
Artigo em Inglês | MEDLINE | ID: mdl-38151336

RESUMO

Variants in EPHB4 (Ephrin type B receptor 4), a transmembrane tyrosine kinase receptor, have been identified in individuals with various vascular anomalies including Capillary Malformation-Arteriovenous Malformation syndrome 2 and lymphatic-related (non-immune) fetal hydrops (LRHF). Here, we identify two novel variants in EPHB4 that disrupt the SAM domain in two unrelated individuals. Proband 1 presented within the LRHF phenotypic spectrum with hydrops, and proband 2 presented with large nuchal translucency prenatally that spontaneously resolved in addition to dysmorphic features on exam postnatally. These are the first disease associated variants identified that do not disrupt EPHB4 protein expression or tyrosine-kinase activity. We identify that EPHB4 SAM domain disruptions can lead to aberrant downstream signaling, with a loss of the SAM domain resulting in elevated MAPK signaling in proband 1, and a missense variant within the SAM domain resulting in increased cell proliferation in proband 2. This data highlights that a functional SAM domain is required for proper EPHB4 function and vascular development.


Assuntos
Hidropisia Fetal , Motivo Estéril alfa , Feminino , Humanos , Hidropisia Fetal/diagnóstico por imagem , Hidropisia Fetal/genética , Receptores Proteína Tirosina Quinases/metabolismo , Transdução de Sinais/genética , Receptor EphB4/genética , Receptor EphB4/metabolismo
2.
Am J Med Genet A ; : e63865, 2024 Aug 30.
Artigo em Inglês | MEDLINE | ID: mdl-39215506

RESUMO

Nonimmune foetal hydrops is a prenatal condition associated with significant perinatal mortality. It has so far been associated with over 200 chromosomal and monogenic conditions, most frequently chromosomal aneuploidies and RASopathies. Thorough clinical phenotyping and genetic evaluation are essential to determine the underlying etiology of this clinical entity and guide obstetrical and postnatal management. In this report, we describe the prenatal presentation and postnatal outcome of a pregnancy with Lethal Congenital Glycogen Storage Disease of the Heart, a rare autosomal dominant non lysosomal cardiac glycogenosis caused by a novel de novo likely pathogenic variant in the Protein Kinase AMP-Activated Non-Catalytic Subunit Gamma 2 (PRKAG2) gene, [NM_016203.3:c.1150A > G, p.(Arg384Gly)]. To this day, only six other molecularly confirmed prenatal presentations of this condition have been reported. This clinical report adds to the knowledge on the prenatal features, clinical evolution, molecular diagnosis and pathological findings of this disorder and underlines the clinical utility of comprehensive molecular testing in the investigation of nonimmune foetal hydrops and fetal cardiomyopathy.

3.
J Obstet Gynaecol Res ; 50(8): 1402-1407, 2024 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-38747123

RESUMO

Non-immune hydrops fetalis represents the end-stage status of a variety of diseases, including metastatic tumors. We report a case of non-immune hydrops fetalis associated with multiple disseminated echogenic nodular lesions detected by ultrasound and confirmed by magnetic resonance. Cordocentesis demonstrated anemia and thrombopenia. Differential diagnosis included histiocytosis X, acute leukemia or metastatic disease. A stillbirth was diagnosed at week 25 + 6. The autopsy revealed hydrops fetalis, a right adrenal gland mass, multiple disseminated nodules histologically composed of small round blue cells positive for synaptophysin, and placental involvement, concordant findings with congenital undifferentiated neuroblastoma Stage M. No chromosomal abnormalities were associated, nor amplification abnormalities in MYCN and ALK genes. Metastatic neuroblastoma should be considered in the differential diagnosis of non-immune hydrops fetalis associated with multiple nodular lesions.


Assuntos
Hidropisia Fetal , Neuroblastoma , Humanos , Feminino , Gravidez , Neoplasias das Glândulas Suprarrenais , Adulto , Complicações Neoplásicas na Gravidez/patologia , Placenta/patologia
4.
J Clin Ultrasound ; 52(8): 1087-1095, 2024 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-39082319

RESUMO

OBJECTIVES: To evaluate the prevalence of chromosomal anomalies in fetuses affected by increased nuchal translucency(iNT >99Th centile), cystic hygroma (CH) and cases progressing to fetal hydrops (NIHF) in order to correlate this result to prognosis and perinatal fetal outcomes, improving patient's counseling. METHODS: From January 2020 to December 2023, first trimester screening according to FMF criteria were performed in "Maternal fetal medicine Unit" of Foggia's hospital. We studied and collected clinical data of fetuses affected by nuchal translucency >99th centile (iNT), CH and cases progressing to Fetal Hydrops (non-immune fetal hydrop, NIFH). In these selected cases, we evaluated fetal Karyotype to demonstrate the presence of chromosomal abnormalities, associated to fetal structural anomalies and different pregnancy outcome. RESULTS: We have evaluated 45 cases of iNT, CH, and NIFH, identified by ultrasound during first trimester screening. Of these 45 pregnant women, four were lost to follow-up. Of the 41 pregnancies, 20 cases (48.8%) delivered at our division with newborns discharged in good health. Of the 21 patients (51.2%) who miscarried, only two miscarried spontaneously; the other 19 decided on a medical termination of pregnancy (MTP). The 19 patients who decided for MTP showed genetic abnormalities and/or malformation. The 20 cases of fetuses discharged as healthy newborns were enrolled with the following diagnoses: 5 had a diagnosis of CH (20% of cases), 1 case of NIFH (5% of cases), and 14 of iNT (75% of cases). All these fetuses had a normal karyotype and no major malformations. CONCLUSIONS: Isolated CH diagnosis is more frequent than described in Literature (5 cases out of 12: 41.7%) and their prognosis are better than previously described, with the same outcomes of fetuses with iNT without associated anomalies. The possibility of early diagnosis of chromosomal anomalies, associated malformations or the evolution into hydrops is essential for a complete consultation.


Assuntos
Linfangioma Cístico , Medição da Translucência Nucal , Primeiro Trimestre da Gravidez , Humanos , Feminino , Gravidez , Linfangioma Cístico/diagnóstico por imagem , Linfangioma Cístico/diagnóstico , Adulto , Resultado da Gravidez , Hidropisia Fetal/diagnóstico por imagem , Hidropisia Fetal/diagnóstico , Ultrassonografia Pré-Natal/métodos , Estudos Retrospectivos , Prognóstico
5.
J Surg Res ; 292: 38-43, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37579714

RESUMO

INTRODUCTION: Ex-utero intrapartum treatment has been established as an option for fetal and perinatal surgeons to deliver patients with sacrococcygeal teratomas (SCTs) which are causing significant fetal distress and possible in-utero fetal demise. However, ex-utero intrapartum treatment procedures carry significant maternal risk and morbidity. Herein, we report an alternative technique of Cesarean section to immediate resection (CSIR) for managing high-risk SCTs. METHODS: A retrospective institutional review board-approved review was performed on all SCTs evaluated at our fetal center from May 2014 to September 2020. Demographics; prenatal imaging characteristics; prenatal interventions; and postnatal surgery data including operative time, estimated blood loss, pathology, and outcomes were collected. Outcomes of interest included surveillance serum alpha-fetoprotein levels, imaging surveillance, developmental milestones, and the presence or absence of constipation or fecal incontinence. RESULTS: A total of 20 patients with prenatal diagnosis of SCT were evaluated. Mothers who transferred their care to another institution after diagnosis were excluded from this study. Twelve neonates underwent standard postnatal resection. Three neonates underwent emergent CSIR for high output cardiac failure, fetal anemia, or concerns for in-utero hemorrhagic rupture. The median (interquartile range) operative time was 231.5 (113) minutes for the standard operative group versus 156 min in the CSIR group. We present three patients who underwent immediate resection after emergent Cesarean section. We report 100% survival for the three consecutive cases. CONCLUSIONS: CSIR is a safe and feasible approach for managing appropriately selected high-risk SCTs with signs of hydrops, fetal distress, or fetal anemia. Despite patient prematurity, we demonstrated 100% survival of three consecutive cases. We suggest that CSIR be considered an option in the management algorithm for high-risk SCTs.

6.
Circ J ; 87(4): 560-568, 2023 03 24.
Artigo em Inglês | MEDLINE | ID: mdl-36436951

RESUMO

BACKGROUND: This study investigated the association between placental pathology and fetal heart failure.Methods and Results: Singletons with a congenital heart defect (CHD) and/or arrhythmia (n=168) and gestational age-matched controls (n=52) were included in the study. The associations between macro- and microscopic abnormal findings of the placenta and the severity of fetal heart failure were evaluated using the cardiovascular profile (CVP) score. Nine features were microscopically identified and assessed in sections of the placenta: premature villi, edematous villi, fibrotic villi, chorioamnionitis, chorangiosis, fibrin deposition, subchorionic hematoma, infarcted villi, and nucleated red blood cells in villous vessels. Among singletons with CHD and/or arrhythmia, the final CVP score was ≥8 in 140 cases, 6 or 7 in 15 cases, and ≤5 in 13 cases. Microscopic analysis showed that the frequency and severity of premature and edematous villi and increased nucleated red blood cells in villous vessels were greater in cases of fetal heart failure. These microscopic findings were more common and severe in cases with a final CVP score ≤5 than in gestational age-matched controls. The prevalence of abnormal macroscopic findings of the placenta and umbilical cord was similar regardless of the severity of fetal heart failure. CONCLUSIONS: Premature and edematous villi and increased nucleated red blood cells in villous vessels were correlated with the severity of fetal heart failure in cases of CHD and/or arrhythmia.


Assuntos
Doenças Fetais , Cardiopatias Congênitas , Insuficiência Cardíaca , Nascimento Prematuro , Gravidez , Feminino , Humanos , Placenta/patologia , Insuficiência Cardíaca/patologia , Cardiopatias Congênitas/patologia , Nascimento Prematuro/patologia , Edema , Arritmias Cardíacas/patologia
7.
Ultrasound Obstet Gynecol ; 61(1): 49-58, 2023 01.
Artigo em Inglês | MEDLINE | ID: mdl-36350016

RESUMO

OBJECTIVES: Although many studies have supported the efficacy of transplacental treatment for fetal supraventricular tachyarrhythmia, the long-term neurodevelopmental outcome after antenatal antiarrhythmic treatment is not well understood. The aim of this study was to investigate the prognosis and neurodevelopmental outcome at 36 months of corrected age and the incidence of tachyarrhythmia after birth, following protocol-defined antenatal therapy for fetal supraventricular tachyarrhythmia. METHODS: This was a 3-year follow-up study of a multicenter trial that evaluated the efficacy and safety of protocol-defined transplacental treatment for fetal supraventricular tachycardia (SVT) and atrial flutter (AFL). The primary endpoints were mortality and neurodevelopmental impairment (NDI) at 36 months of corrected age. NDI was defined as any of the following outcomes: cerebral palsy, bilateral blindness, bilateral deafness or neurodevelopmental delay. Neurodevelopmental delay was evaluated using appropriate developmental quotient scales, mainly the Kyoto Scale of Psychological Development, or examination by pediatric neurologists. The detection rate of tachyarrhythmia at birth and at 18 and 36 months of corrected age was also evaluated as the secondary endpoint. In addition, the association of NDI at 36 months with perinatal and postnatal factors was analyzed. RESULTS: Of 50 patients enrolled in the original trial, one withdrew consent and in two there was fetal death, leaving 47 patients available for enrollment in this follow-up study. Of these, 45 cases were available for analysis after two infants were lost to follow-up. The mortality rate was 2.2% (1/45) during a median follow-up of 3.2 (range, 2.1-9.4) years. The infant died at the age of 2.1 years. Another infant had missing neurodevelopmental assessment data. In the remaining 43 infants, at 36 months of corrected age, NDI was detected in 9.3% (4/43) overall and in two of three (66.7%) cases with fetal hydrops with subcutaneous edema. Cerebral palsy was noted in two infants with severe subcutaneous edema or ascites at an early gestational age. Neurodevelopmental delay was found in two infants with severe congenital abnormalities (one with tuberous sclerosis and the other with heterotaxy syndrome). Tachyarrhythmia was present in 31.9% (15/47) cases in the neonatal period and decreased to 8.9% (4/45) and 4.5% (2/44) at 18 and 36 months of corrected age, respectively. The median ventricular rate at diagnosis was significantly higher in infants with NDI compared to those without (265 vs 229 bpm; P = 0.003). In infants with NDI, compared to those without, fetal hydrops with subcutaneous edema at diagnosis was more common (50.0% vs 2.6%; P = 0.019) and the duration of fetal effusion was longer (median, 10.5 vs 0 days; P = 0.013). Postnatal arrhythmia and physical development abnormalities were not associated with NDI. CONCLUSIONS: This multicenter 3-year follow-up study is the first to demonstrate the long-term mortality and morbidity of infants born following protocol-defined transplacental treatment for fetal SVT and AFL. NDI was associated with the presence of fetal hydrops with subcutaneous edema at diagnosis and longer duration of fetal effusion. Neurodevelopmental delay was detected only in infants with severe congenital abnormalities. Therefore, in infants that have undergone antenatal treatment for fetal tachyarrhythmia and in which there are no comorbidities, the risk of NDI is low. However, in those with fetal hydrops with subcutaneous edema and/or associated severe congenital abnormalities, the risk for long-term neurologic morbidity might be considered somewhat increased. © 2022 International Society of Ultrasound in Obstetrics and Gynecology.


Assuntos
Doenças Fetais , Hidropisia Fetal , Lactente , Recém-Nascido , Criança , Humanos , Feminino , Gravidez , Pré-Escolar , Seguimentos , Doenças Fetais/diagnóstico , Arritmias Cardíacas , Taquicardia , Estudos Retrospectivos
8.
J Electrocardiol ; 79: 35-37, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36933460

RESUMO

Permanent junctional reciprocating tachycardia (PJRT) is a rare form of congenital arrhythmia occurring predominantly in infants and children. Prenatal presentation is frequently characterized by incessant tachycardia leading to dilated cardiomyopathy (DCM). Some patients can have a normal heart rate which leads to a delayed diagnosis. We report a case of a neonate who was presented prenatally with DCM, fetal hydrops, and no signs of fetal arrhythmia. Diagnosis of PJRT was established after delivery with characteristic electrocardiographic patterns. Successful conversion to sinus rhythm with digoxin and amiodarone was achieved three months later. At 16 months of age, both echocardiography and electrocardiography were normal.


Assuntos
Cardiomiopatia Dilatada , Ablação por Cateter , Taquicardia Reciprocante , Taquicardia Supraventricular , Lactente , Recém-Nascido , Criança , Gravidez , Feminino , Humanos , Cardiomiopatia Dilatada/complicações , Cardiomiopatia Dilatada/diagnóstico , Hidropisia Fetal/diagnóstico , Frequência Cardíaca , Eletrocardiografia , Arritmias Cardíacas , Taquicardia Reciprocante/complicações , Taquicardia Reciprocante/diagnóstico , Taquicardia Reciprocante/cirurgia
9.
Arch Gynecol Obstet ; 308(1): 117-125, 2023 07.
Artigo em Inglês | MEDLINE | ID: mdl-35916962

RESUMO

PURPOSE: Evaluating procedure-related complications and perinatal outcomes after intrauterine transfusion (IUT) before or after 20+0 weeks of gestation in fetuses with severe anemia due to intrauterine human parvovirus B19 infection. METHODS: A retrospective study investigating fetuses requiring IUT for fetal Parvo B19 infection in two tertiary referral centers between December 2002 and December 2021. Procedure-related complications, intrauterine fetal death (IUFD), and perinatal outcome were correlated to gestational age (GA) at first IUT, the presence of hydrops and fetal blood sampling results. RESULTS: A total of 186 IUTs were performed in 103 fetuses. The median GA at first IUT was 19+3 (13+0-31+4) weeks of gestation. IUFD occurred in 16/103 fetuses (15.5%). Overall survival was 84.5% (87/103). Hydrops (p = 0.001), lower mean hemoglobin at first IUT (p = 0.001) and low platelets (p = 0.002) were strongly associated with IUFD. There was no difference observed in fetuses transfused before or after 20+0 weeks of gestation. CONCLUSION: IUT is a successful treatment option in fetuses affected by severe anemia due to parvovirus B19 infection in specialized centers. In experienced hands, IUT before 20 weeks is not related to worse perinatal outcome.


Assuntos
Anemia , Eritema Infeccioso , Infecções por Parvoviridae , Parvovirus B19 Humano , Complicações Infecciosas na Gravidez , Gravidez , Feminino , Humanos , Eritema Infeccioso/complicações , Eritema Infeccioso/terapia , Estudos Retrospectivos , Transfusão de Sangue Intrauterina , Infecções por Parvoviridae/complicações , Infecções por Parvoviridae/terapia , Anemia/etiologia , Anemia/terapia , Complicações Infecciosas na Gravidez/terapia , Morte Fetal/etiologia , Feto , Edema , Hidropisia Fetal/etiologia , Hidropisia Fetal/terapia
10.
Fetal Diagn Ther ; 50(2): 115-120, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36709748

RESUMO

INTRODUCTION: We aimed to identify maternal and fetal complications and investigate postnatal and long-term outcomes of fetal hydrothorax (FHT) treated with pleuro-amniotic shunting (shunt). METHODS: Single-center retrospective observational cohort of shunt cases performed from 2000 to 2021. Risk factors for maternal complications, fetal demise, neonatal death (NND), and postnatal outcomes were identified. RESULTS: Out of 88 cases, 70 (79.5%) were complicated by hydrops, with an average gestational age (GA) at diagnosis of 27 weeks (range 16-34). In 16 cases, definitive etiology of FHT was identified; five cases of Noonan syndrome and three cases of monogenic disorders diagnosed by whole-exome sequencing (EPHB4, VEGFR3, RASA1). Shunt was performed at an average GA of 28 weeks (20-34), with a dislodgement in 10 cases (11.4%). Maternal: Complications occurred in three cases; survival rate was 76.1% (67/88). Follow-up data were available for 57/67 (85.1%) children. Incidence of severe neurodevelopmental impairment and pneumopathy (broncho dysplasia, persistent pulmonary hypertension of newborn, and asthma) was 5.3% and 8.8%, respectively. Post-treatment persistence of hydrops, FHT associated with genetic syndromes, and GA at birth were risk factors for fetal demise, NND, and postnatal complications. CONCLUSION: In truly isolated FHT, whenever indicated, pleuro-amniotic shunting is a safe procedure associated with good survival rate and long-term outcome.


Assuntos
Hidrotórax , Gravidez , Feminino , Recém-Nascido , Criança , Humanos , Lactente , Hidrotórax/cirurgia , Estudos Retrospectivos , Cuidado Pré-Natal , Morte Fetal/etiologia , Edema , Proteína p120 Ativadora de GTPase
11.
Fetal Pediatr Pathol ; 42(1): 103-109, 2023 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-35380090

RESUMO

Non-immune fetal hydrops (NIFH) is an etiologically heterogeneous condition. Cardiac anomalies are one of the common causes of NIFH. Cardiac anomalies can be isolated, multifactorial malformations or have a genetic basis. PLD1 variants have been associated with developmental defects involving the right heart. We present a NIFH with a PLD1 associated right heart malformation.We describe a spontaneously aborted 14 weeks old NIFH fetus with a rudimentary right ventricle, pulmonary valve atresia and pulmonary artery stenosis found at fetopsy. After a normal microarray, whole exome sequencing revealed a homozygous missense variant c.2023 C > T (p. Arg675Trp) in the PLD1 gene. Conclusion: Detailed fetopsy and genetic evaluation in this NIFH allowed an etiological explanation, further corroborated the association of PLD1 gene variants and developmental right heart defects, and that this defect can be associated with NIHF.


Assuntos
Cardiopatias Congênitas , Sequenciamento de Nucleotídeos em Larga Escala , Feminino , Humanos , Cardiopatias Congênitas/diagnóstico , Hidropisia Fetal/diagnóstico , Hidropisia Fetal/genética
12.
Zhongguo Dang Dai Er Ke Za Zhi ; 25(5): 546-550, 2023 May 15.
Artigo em Chinês | MEDLINE | ID: mdl-37272184

RESUMO

A boy, aged 3 hours, was admitted due to a prenatal diagnosis of fetal hydrops at 3 hours after resuscitation for birth asphyxia. Prenatal examination at 5 months of gestation showed massive ascites in the fetus, and after birth, the boy had the manifestations of systemic hydroderma, massive ascites, coarse face, and hepatomegaly. Genetic testing revealed heterozygous mutations in the SLC17A5 gene, and there was a significant increase in urinary free sialic acid. Placental pathology showed extensive vacuolization in villous stromal cells, Hofbauer cells, cytotrophoblast cells, and syncytiotrophoblast cells in human placental chorionic villi. The boy was finally diagnosed with free sialic acid storage disorders (FSASDs). This is the first case of FSASDs with the initial symptom of fetal hydrops reported in China. The possibility of FSASDs should be considered for cases with non-immune hydrops fetalis, and examinations such as placental pathology and urinary free sialic acid may help with early diagnosis and clinical decision making.


Assuntos
Hidropisia Fetal , Ácido N-Acetilneuramínico , Recém-Nascido , Masculino , Humanos , Feminino , Gravidez , Hidropisia Fetal/etiologia , Hidropisia Fetal/genética , Placenta/patologia , Ascite
13.
Am J Obstet Gynecol ; 226(2S): S1019-S1034, 2022 02.
Artigo em Inglês | MEDLINE | ID: mdl-33096092

RESUMO

Preeclampsia is a devastating medical complication of pregnancy that can lead to significant maternal and fetal morbidity and mortality. It is currently believed that there is abnormal placentation in as early as the first trimester in women destined to develop preeclampsia. Although the etiology of the abnormal placentation is being debated, numerous epidemiologic and experimental studies suggest that imbalances in circulating angiogenic factors released from the placenta are responsible for the maternal signs and symptoms of preeclampsia. In particular, circulating levels of soluble fms-like tyrosine kinase 1, an antiangiogenic factor, are markedly increased in women with preeclampsia, whereas free levels of its ligand, placental, growth factor are markedly diminished. Alterations in these angiogenic factors precede the onset of clinical signs of preeclampsia and correlate with disease severity. Recently, the availability of automated assays for the measurement of angiogenic biomarkers in the plasma, serum, and urine has helped investigators worldwide to demonstrate a key role for these factors in the clinical diagnosis and prediction of preeclampsia. Numerous studies have reported that circulating angiogenic biomarkers have a very high negative predictive value to rule out clinical disease among women with suspected preeclampsia. These blood-based biomarkers have provided a valuable tool to clinicians to accelerate the time to clinical diagnosis and minimize maternal adverse outcomes in women with preeclampsia. Angiogenic biomarkers have also been useful to elucidate the pathogenesis of related disorders of abnormal placentation such as intrauterine growth restriction, intrauterine fetal death, twin-to-twin transfusion syndrome, and fetal hydrops. In summary, the discovery and characterization of angiogenic proteins of placental origin have provided clinicians a noninvasive blood-based tool to monitor placental function and health and for early detection of disorders of placentation. Uncovering the mechanisms of altered angiogenic factors in preeclampsia and related disorders of placentation may provide insights into novel preventive and therapeutic options.


Assuntos
Fator de Crescimento Placentário/sangue , Pré-Eclâmpsia/sangue , Receptor 1 de Fatores de Crescimento do Endotélio Vascular/sangue , Biomarcadores/sangue , Displasia Broncopulmonar/sangue , Doenças Cardiovasculares/sangue , Feminino , Morte Fetal , Transfusão Feto-Fetal , Fibrina/metabolismo , Humanos , Hidropisia Fetal/sangue , Doenças Placentárias/metabolismo , Fator de Crescimento Placentário/urina , Placentação , Pré-Eclâmpsia/diagnóstico , Gravidez , Prognóstico , Transtornos Puerperais/sangue , Regulação para Cima , Fator A de Crescimento do Endotélio Vascular/sangue
14.
Fetal Diagn Ther ; 49(11-12): 502-505, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36577394

RESUMO

INTRODUCTION: Most cases of bronchopulmonary sequestration (BPS) regress. Prenatal intervention is needed in cases of fetal hydrothorax or hydrops. Laser is commonly used to ablate the feeding artery. CASE PRESENTATION: In a fetus with BPS, radiofrequency ablation (RFA) was used to ablate the feeding artery arising from descending aorta at 29 weeks gestation. There was an extralobar BPS and significant pleural effusion causing mediastinal shift and collapse of lung. The effusion and tumor started decreasing from day 3 after procedure, and by the time patient delivered at 36 weeks gestation, the lesion had almost resolved. CONCLUSION: With proper technique, RFA can be safely used to ablate feeding artery in BPS.


Assuntos
Sequestro Broncopulmonar , Derrame Pleural , Ablação por Radiofrequência , Gravidez , Feminino , Humanos , Sequestro Broncopulmonar/cirurgia , Derrame Pleural/terapia , Pulmão , Artérias , Ablação por Radiofrequência/efeitos adversos , Ultrassonografia Pré-Natal/métodos
15.
Fetal Diagn Ther ; 49(5-6): 250-255, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35490675

RESUMO

INTRODUCTION: Congenital pulmonary airway malformations (CPAMs) complicated by hydrops portend significant morbidity and mortality, with fetal survival estimates less than 10%. CASE PRESENTATION: We report successful use of ultrasound-guided radiofrequency ablation at 21-week gestation in a hydropic fetus with CPAM, with subsequent resolution of hydrops. Thirty-two-week MRI noted persistent mediastinal shift, and US at 36 weeks and 5 days noted polyhydramnios. Maternal gestational hypertension prompted delivery at 37 weeks, with a cesarean section performed after a failed trial of labor. The infant required CPAP at 100% and weaned to 21%. Tachypnea persisted, and chest CT on day of life 2 demonstrated multiple large cysts in the right lower lobe with anterior pneumothorax. On day of life 3, she successfully underwent a thoracoscopic right lower lobectomy. Adhesions to the chest wall and rib abnormalities were noted. She was extubated to CPAP at the conclusion of the procedure. She was able to wean to 21% on POD2 and transitioned to oral feeds. Her chest tube was removed with resultant ex vacuo pneumothorax noted. She remained asymptomatic and was discharged home on room air POD11. Pathology confirmed a type 1 CPAM. CONCLUSION: In utero radiofrequency ablation may be an adjunct to the management of large CPAM.


Assuntos
Malformação Adenomatoide Cística Congênita do Pulmão , Terapias Fetais , Pneumotórax , Cesárea , Malformação Adenomatoide Cística Congênita do Pulmão/complicações , Malformação Adenomatoide Cística Congênita do Pulmão/diagnóstico por imagem , Malformação Adenomatoide Cística Congênita do Pulmão/cirurgia , Edema , Feminino , Feto/cirurgia , Humanos , Hidropisia Fetal/diagnóstico por imagem , Hidropisia Fetal/cirurgia , Lactente , Pneumotórax/diagnóstico por imagem , Pneumotórax/cirurgia , Gravidez
16.
BMC Pregnancy Childbirth ; 21(1): 660, 2021 Sep 28.
Artigo em Inglês | MEDLINE | ID: mdl-34583666

RESUMO

BACKGROUND: Mirror syndrome (MS) is a rare obstetric disorder complicated with high maternal morbidity and fetal mortality. MS is often misdiagnosed or underdiagnosed due to the low incidence and lack of awareness of its diverse features. This study aimed to summarise the etiology, clinical characteristics, and risk factors of MS among mothers with fetal hydrops. METHODS: This retrospective case-control study included 37 pregnant women with fetal hydrops in the second and third trimesters from 58,428 deliveries performed at the Third Affiliated Hospital of Sun Yat-Sen University between January 2012 and December 2020. Cases were categorized as MS and non-MS according to the presence or absence of maternal mirroring symptoms. Binary logistic regression was performed for analysis. RESULTS: Fourteen women developed MS with an overall incidence of 0.024% (14/58,428) and 37.8% (14/37) in the fetal hydrops cases. Among the 11 MS cases with known associated etiologies, seven had alpha thalassemia major. Onset of fetal hydrops was later (27.8 vs. 23.0 weeks) and the rate of placental thickening was higher (85.7% vs. 34.8%) in the MS group than in the non-MS group (P < 0.05). Regarding maternal characteristics, the MS group had higher maternal morbidity (85.7% vs. 8.7%), more weight gain (9.0 vs. 5.5 kg), higher rates of hypertension (35.7 vs. 0%) and proteinuria (64.3% vs. 4.3%), and lower levels of hemoglobin (88 vs. 105 g/L) and serum albumin (25.8 vs. 35.0 g/L) than the non-MS group (P < 0.05). Logistic regression analysis showed that onset of fetal hydrops at ≥24 weeks and placental thickening were associated with the risk of MS among fetal hydrops cases (OR 15.83, 95% CI 1.56-160.10 and OR 8.63, 95% CI 1.29-57.72, respectively). CONCLUSIONS: MS is relatively common among fetal hydrops cases in the late second and third trimesters, and alpha thalassemia major is the main etiology for fetal hydrops and also MS in this population. Complicated with high maternal morbidity, the key maternal features of MS include more weight gain, hemodilution, and hypertension. Among those with fetal hydrops, the onset time of ≥24 weeks and placental thickening are risk factors for MS.


Assuntos
Edema/patologia , Hemodiluição , Hidropisia Fetal/patologia , Hipertensão , Doenças Placentárias/patologia , Complicações na Gravidez/patologia , Aumento de Peso , Estudos de Casos e Controles , China/epidemiologia , Edema/diagnóstico , Edema/etiologia , Feminino , Humanos , Hidropisia Fetal/diagnóstico , Hidropisia Fetal/etiologia , Doenças Placentárias/diagnóstico , Doenças Placentárias/etiologia , Gravidez , Complicações na Gravidez/diagnóstico , Complicações na Gravidez/etiologia , Prognóstico , Estudos Retrospectivos , Fatores de Risco , Síndrome , Talassemia alfa/complicações
17.
BMC Pediatr ; 21(1): 161, 2021 04 06.
Artigo em Inglês | MEDLINE | ID: mdl-33823829

RESUMO

BACKGROUND: Systemic juvenile xanthogranuloma is a very rare disease typically presents as skin lesions with yellow papules or nodules and is sometimes fatal. We report a case of congenital neonatal systemic juvenile xanthogranuloma with atypical skin appearance that made the diagnosis difficult. CASE PRESENTATION: A preterm Japanese female neonate with prenatally diagnosed fetal hydrops in-utero was born with purpuric lesions involving the trunk and face. Since birth, she had hypoxemic respiratory failure, splenomegaly, anemia, thrombocytopenia, coagulopathy, and was transfusion dependent for red blood cells, fresh frozen plasma, and platelets. Multiple cystic lesions in her liver, part of them with vascular, were detected by ultrasound. A liver biopsy was inconclusive. A skin lesion on her face similar to purpura gradually changed to a firm and solid enlarged non-yellow nodule. Technically, the typical finding on skin biopsy would have been histiocytic infiltration (without Touton Giant cells) and immunohistochemistry results which then would be consistent with a diagnosis of systemic juvenile xanthogranuloma, and chemotherapy improved her general condition. CONCLUSIONS: This case report shows that skin biopsies are necessary to detect neonatal systemic juvenile xanthogranuloma when there are organ symptoms and skin eruption, even if the skin lesion does not have a typical appearance of yellow papules or nodules.


Assuntos
Púrpura , Xantogranuloma Juvenil , Biópsia , Edema , Feminino , Humanos , Recém-Nascido , Pele , Xantogranuloma Juvenil/complicações , Xantogranuloma Juvenil/diagnóstico
18.
Medicina (Kaunas) ; 57(10)2021 Sep 28.
Artigo em Inglês | MEDLINE | ID: mdl-34684068

RESUMO

Mirror syndrome (MS) or Ballantyne's syndrome is a rare maternal condition that can be life-threatening for both mother and fetus. The condition is characterized by maternal signs and symptoms similar to those seen in preeclampsia in the setting of fetal hydrops. Despite recent advances in the field of maternal-fetal medicine, the etiopathogenesis of MS remains elusive. For patients and doctors, the COVID-19 pandemic has become an extra hurdle to overcome. The following case illustrates how patients' non-compliance associated with mirror syndrome and SARS-CoV-2 infection led to the tragic end of a 19-year-old patient. Therefore, knowledge of the signs and symptoms of mirror syndrome should always be part of the armamentarium of every obstetrician.


Assuntos
COVID-19 , Complexo de Eisenmenger , Adulto , Complexo de Eisenmenger/complicações , Complexo de Eisenmenger/epidemiologia , Feminino , Humanos , Hidropisia Fetal , Pandemias , Gravidez , SARS-CoV-2 , Adulto Jovem
19.
Cesk Patol ; 57(4): 216-220, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-35042354

RESUMO

Umbilical cord hemangioma is a rare tumor that can be associated with significant fetal and perinatal complications. Although usually described as a single anomaly, sometimes these tumors are reported in association with other vascular lesions. We report an unusual case of simultaneous occurrence of two umbilical cord hemangiomas and vascular malformation of the transverse mesocolon in a stillborn fetus with hydrops. To our knowledge, this is the first report of two simultaneously occurring umbilical cord hemangiomas. Moreover, presence of associated vascular malformation of transverse mesocolon could support the hypothesis of underlying predisposition to the development of vascular tumors.


Assuntos
Hemangioma , Mesocolo , Malformações Vasculares , Feminino , Hemangioma/complicações , Humanos , Hidropisia Fetal/etiologia , Gravidez , Cordão Umbilical
20.
Am J Med Genet A ; 182(12): 2867-2876, 2020 12.
Artigo em Inglês | MEDLINE | ID: mdl-32909676

RESUMO

Kinase D-interacting substrate of 220 kDa (KIDINS220) is a transmembrane protein playing integral role in growth mediating pathways in the nervous and cardiovascular systems. KIDINS220 heterozygous truncating variants that affect the protein's C-terminus have been associated with a phenotype, so far described only in few unrelated children, including spastic paraplegia, intellectual disability, nystagmus, and obesity. More recently, a homozygous, more N-terminal truncating variant in KIDINS220 gene was suggested to be associated with enlarged cerebral ventricles and limb contractures in three fetuses from a consanguineous family. We confirm the latter finding by presenting the first detailed prenatal identification of a fetal phenotype associated with novel homozygous deleterious frameshift variant in KIDINS220 gene in a consanguineous healthy Egyptian couple. History of unexplained seven miscarriages and a similar stillbirth were recorded. Prenatal ultrasonography revealed limb contractions and ventriculomegaly; in addition to previously unreported cerebellar anomalies, cardiac anomalies and hydrops fetalis. These findings represent an expansion of clinical and molecular spectrum associated with KIDINS220 variants and broaden our understanding of genotype-phenotype relationships in lethal congenital contractures syndromes and associated severe abnormal embryological development. More generally, our study adds KIDINS220 to the rare group of genes which may cause disease by either of two distinct mutational mechanisms.


Assuntos
Artrogripose/patologia , Contratura/patologia , Doenças Fetais/patologia , Feto/anormalidades , Deformidades Congênitas dos Membros/patologia , Proteínas de Membrana/genética , Mutação , Proteínas do Tecido Nervoso/genética , Adulto , Artrogripose/etiologia , Ventrículos Cerebrais/metabolismo , Ventrículos Cerebrais/patologia , Contratura/etiologia , Evolução Fatal , Feminino , Homozigoto , Humanos , Deformidades Congênitas dos Membros/etiologia , Masculino , Linhagem , Gravidez , Estudos Retrospectivos
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