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1.
Fetal Diagn Ther ; 51(1): 76-84, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-37812923

RESUMO

INTRODUCTION: Fetal anemia from hemolytic disease treated by intrauterine transfusion (IUT) can be performed by intraperitoneal, intracardiac, and intravascular transfusion (IVT). Objective of our study was to compare different transfusion techniques. METHODS: Retrospective review of IUT secondary to red cell alloimmunization was conducted at eight international centers from 2012 to 2020. Severe anemia suspected if middle cerebral artery peaks systolic velocity ≥1.5 multiples of the median. Demographic, delivery, and postnatal variables were analyzed. RESULTS: Total of 344 procedures, 325 IVT and 19 other techniques (non-IVT) included. No difference in demographics, history of stillbirth (20.5 vs. 15.8%, p = 0.7), prior pregnancy IUT (25.6 vs. 31.6%, p = 0.5) or neonatal transfusion (36.1 vs. 43.8%, p = 0.5). At first IUT, non-IVT had higher hydrops (42.1% vs. 20.4%, p = 0.03), lower starting hematocrit (13.3% [±6] vs. 17.7% [±8.2], p = 0.04), and trend toward lower gestational age (24.6 [20.1-27] vs. 26.4 [23.2-29.6] weeks, p = 0.08). No difference in birthweight, neonatal phototherapy, exchange, or simple transfusion was observed. CONCLUSION: This is one of the largest studies comparing techniques to treat fetal anemia. IVT was most performed, other techniques were more likely performed in hydrops, and lower starting hematocrit was seen. Neither technique affected outcomes. This study may suggest that physician's experience may be the strongest contributor of outcomes.


Assuntos
Anemia , Doenças Fetais , Isoimunização Rh , Gravidez , Recém-Nascido , Feminino , Humanos , Transfusão de Sangue Intrauterina/métodos , Doenças Fetais/terapia , Anemia/terapia , Estudos Retrospectivos , Edema , Sangue Fetal
2.
Acta Obstet Gynecol Scand ; 103(2): 313-321, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-37984405

RESUMO

INTRODUCTION: Maternal red blood cell alloimmunization during pregnancy can lead to hemolysis and various degrees of fetal anemia, which can be treated with intrauterine blood transfusion (IUT) to prevent adverse outcomes. Knowledge about fetal myocardial function and adaptation is limited. The aim of the present study was to measure fetal atrioventricular plane displacement before and after IUT and compare these measurements with previously established reference ranges. MATERIAL AND METHODS: An observational study was conducted on pregnant women affected by red blood cell alloimmunization. Fetal echocardiography was performed before and after IUT. The atrioventricular plane displacement of the left and right ventricular walls and interventricular septum, described as mitral, septal, and tricuspid annular plane systolic excursion (MAPSE, SAPSE, and TAPSE, respectively), was assessed using color tissue Doppler imaging with automated analysis software. A Mann-Whitney U test was used to compare the z scores to the normal mean before and after IUT. RESULTS: Twenty-seven fetuses were included. The mean z score for pre-IUT MAPSE was significantly increased compared with the reference ranges, +0.46 (95% confidence interval [CI] +0.17 to +0.75; p = 0.039), while the mean z scores for post-IUT SAPSE and TAPSE were significantly decreased, -0.65 (95% CI -1.11 to -0.19; p < 0.001) and -0.60 (95% CI -1.04 to -0.17; p = 0.003), respectively. The difference in atrioventricular plane displacement z scores before and after IUT was statistically significant in all three locations. The median difference between the pre-IUT and post-IUT z scores was -0.66 (95% CI -1.03 to -0.33, p < 0.001) for MAPSE, -1.05 (95% CI -1.43 to -0.61, p < 0.001) for SAPSE, and -0.60 (95% CI -1.19 to -0.01, p = 0.046) for TAPSE. CONCLUSIONS: This study suggests that atrioventricular plane displacement, when determined using automated analysis software, may represent a quantitative parameter, describing fetal myocardial function and adaptation before and after IUT.


Assuntos
Anemia , Doenças Fetais , Gravidez , Humanos , Feminino , Transfusão de Sangue Intrauterina , Eritrócitos , Doenças Fetais/terapia , Anemia/terapia , Feto
3.
Arch Gynecol Obstet ; 309(4): 1341-1351, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-36966429

RESUMO

PURPOSE: In adults and fetuses, N-terminal pro-B-type natriuretic peptide (NT-proBNP) is a marker of cardiac failure and myocardial remodelling. We examined the effect of anemia and intrauterine transfusion (IUT) on NT-proBNP concentrations in fetuses with anemia and established gestational age-dependent reference values of a control group. METHODS: We analyzed NT-proBNP levels in anemic fetuses that underwent serial intrauterine transfusions (IUT), focusing on different causes and severity of anemia and comparing the results to a non-anemic control group. RESULTS: In the control group, the average NT-proBNP concentration was 1339 ± 639 pg/ml, decreasing significantly with increasing gestational age (R = - 74.04, T = - 3.65, p = 0.001). Subjects had significantly higher NT-proBNP concentrations before initiation of IUT therapy (p < 0.001), showing fetuses with parvovirus B19 (PVB19) infection having the highest concentrations. Hydropic fetuses also showed an increased NT-proBNP concentration compared to non-hydropic fetuses (p < 0.001). During the course of therapy, NT-proBNP concentration before subsequent IUT decreased significantly from pathologically high levels, while MoM-Hb and MoM-MCA-PSV remained pathological. CONCLUSION: NT-pro BNP levels in non-anemic fetuses are higher than in postnatal life, decreasing with ongoing pregnancy. Anemia is a hyperdynamic state and its severity correlates with circulating NT-proBNP levels. Highest concentrations occur in fetuses with hydrops and with PVB19 infection, respectively. Treatment by IUT leads to a normalisation of NT-proBNP concentrations, so the measurement of its levels may be useful in therapy monitoring.


Assuntos
Anemia , Doenças Fetais , Fragmentos de Peptídeos , Gravidez , Feminino , Adulto , Humanos , Doenças Fetais/terapia , Peptídeo Natriurético Encefálico , Anemia/terapia , Feto , Transfusão de Sangue Intrauterina/métodos
4.
JAMA ; 330(21): 2096-2105, 2023 12 05.
Artigo em Inglês | MEDLINE | ID: mdl-38051327

RESUMO

Importance: Early anhydramnios during pregnancy, resulting from fetal bilateral renal agenesis, causes lethal pulmonary hypoplasia in neonates. Restoring amniotic fluid via serial amnioinfusions may promote lung development, enabling survival. Objective: To assess neonatal outcomes of serial amnioinfusions initiated before 26 weeks' gestation to mitigate lethal pulmonary hypoplasia. Design, Setting, and Participants: Prospective, nonrandomized clinical trial conducted at 9 US fetal therapy centers between December 2018 and July 2022. Outcomes are reported for 21 maternal-fetal pairs with confirmed anhydramnios due to isolated fetal bilateral renal agenesis without other identified congenital anomalies. Exposure: Enrolled participants initiated ultrasound-guided percutaneous amnioinfusions of isotonic fluid before 26 weeks' gestation, with frequency of infusions individualized to maintain normal amniotic fluid levels for gestational age. Main Outcomes and Measures: The primary end point was postnatal infant survival to 14 days of life or longer with dialysis access placement. Results: The trial was stopped early based on an interim analysis of 18 maternal-fetal pairs given concern about neonatal morbidity and mortality beyond the primary end point despite demonstration of the efficacy of the intervention. There were 17 live births (94%), with a median gestational age at delivery of 32 weeks, 4 days (IQR, 32-34 weeks). All participants delivered prior to 37 weeks' gestation. The primary outcome was achieved in 14 (82%) of 17 live-born infants (95% CI, 44%-99%). Factors associated with survival to the primary outcome included a higher number of amnioinfusions (P = .01), gestational age greater than 32 weeks (P = .005), and higher birth weight (P = .03). Only 6 (35%) of the 17 neonates born alive survived to hospital discharge while receiving peritoneal dialysis at a median age of 24 weeks of life (range, 12-32 weeks). Conclusions and Relevance: Serial amnioinfusions mitigated lethal pulmonary hypoplasia but were associated with preterm delivery. The lower rate of survival to discharge highlights the additional mortality burden independent of lung function. Additional long-term data are needed to fully characterize the outcomes in surviving neonates and assess the morbidity and mortality burden. Trial Registration: ClinicalTrials.gov Identifier: NCT03101891.


Assuntos
Terapias Fetais , Soluções Isotônicas , Nefropatias , Pneumopatias , Oligo-Hidrâmnio , Feminino , Humanos , Lactente , Recém-Nascido , Gravidez , Terapias Fetais/métodos , Idade Gestacional , Rim/diagnóstico por imagem , Nefropatias/complicações , Nefropatias/congênito , Nefropatias/mortalidade , Nefropatias/terapia , Estudos Prospectivos , Infusões Parenterais/métodos , Oligo-Hidrâmnio/etiologia , Oligo-Hidrâmnio/mortalidade , Oligo-Hidrâmnio/terapia , Doenças Fetais/etiologia , Doenças Fetais/mortalidade , Doenças Fetais/terapia , Pneumopatias/congênito , Pneumopatias/etiologia , Pneumopatias/mortalidade , Pneumopatias/terapia , Soluções Isotônicas/administração & dosagem , Soluções Isotônicas/uso terapêutico , Ultrassonografia de Intervenção , Resultado da Gravidez , Resultado do Tratamento , Nascimento Prematuro/etiologia , Nascimento Prematuro/mortalidade
5.
J Neonatal Perinatal Med ; 16(4): 747-754, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-38007678

RESUMO

Lymphatic malformations are rare benign developmental anomalies of the lymphatic system that can be diagnosed by prenatal ultrasound. Depending on their anatomical site and size, the lesions can cause a variety of aesthetic and functional deficits. Several treatment options are available, the most suitable is still under debate. The experience gained at our Centre and the review of the literature can be useful to improve prenatal counseling, that is challenging due to the heterogeneity of clinical presentation and treatment.


Assuntos
Anormalidades Linfáticas , Ultrassonografia Pré-Natal , Feminino , Humanos , Gravidez , Anormalidades Linfáticas/diagnóstico por imagem , Anormalidades Linfáticas/terapia , Diagnóstico Pré-Natal , Doenças Fetais/diagnóstico por imagem , Doenças Fetais/terapia
6.
J Matern Fetal Neonatal Med ; 36(2): 2266092, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37840223

RESUMO

OBJECTIVES: The current recommended treatment for severe fetal anemia is in utero transfusion (IUT). During this procedure, the evaluation of the necessary volume of transfused blood is based on regular measurement of fetal hemoglobin (FHb) concentration. The gold standard measurement is performed in the biology laboratory. A rapid medical test such as HemoCue® is an effective way to predict FHb concentration. It would reduce the time to obtain results and therefore the procedure duration. To evaluate the accuracy of HemoCue® to measure FHb during IUT, we compared Hb levels obtained by HemoCue® and by our biology laboratory. METHODS: This retrospective study involved all pregnant women who had undergone an IUT in the university hospital of Clermont-Ferrand, France, during the period from 1 January 2010 to 6 June 2021. The FHb level was evaluated by two methods, a rapid medical test, HemoCue®, and a standard method in the biology laboratory. RESULTS: We obtained 244 pairs of results from HemoCue® and our laboratory, of 90 IUT procedures. The correlation between the two sets of results was excellent, with Lin's concordance correlation coefficient of 0.979. However, we established that the measurements were not significantly modified by IUT number, puncture time, cause of fetal anemia, estimated fetal weight, gestational age, and delay between two IUT or middle cerebral artery peak systolic velocity values. CONCLUSION: Our results allowed to extend the relevance of FHb measurements by HemoCue® during IUT.


Assuntos
Anemia , Doenças Fetais , Humanos , Feminino , Gravidez , Hemoglobina Fetal/análise , Estudos Retrospectivos , Anemia/diagnóstico , Anemia/terapia , Doenças Fetais/diagnóstico , Doenças Fetais/terapia , Transfusão de Sangue , Transfusão de Sangue Intrauterina , Hemoglobinas/análise
7.
Sichuan Da Xue Xue Bao Yi Xue Ban ; 54(4): 843-847, 2023 Jul.
Artigo em Chinês | MEDLINE | ID: mdl-37545084

RESUMO

Objective: To summarize the clinical efficacy and nursing experience of intrauterine blood transfusion (IUT) treatment for fetal anemia cases. Methods: The clinical data of 4 fetal anemia cases receiving IUT in Beijing Obstetrics and Gynecology Hospital, Capital Medical University between 2020 and 2022 were collected. Four pregnant women aged 24-38 years were included in the study. They carried fetuses with anemia of unknown causes. The four pregnant women developed anxiety after they were informed of the diagnosis of fetal anemia. One-on-one psychological counseling before the IUT procedure and one-on-one companionship over the course of the surgery were provided for the pregnant women. In addition, they were closely monitored for blood transfusion reactions. Postprocedural observation of the puncture site and 24-hour monitoring of the newborns were also conducted. Results: The four pregnant women underwent 1-3 times of IUT in the second and third trimesters, with the minimum gestational age at the time of IUT being 25 + weeks and the blood transfusion volume being 20-107 mL/time. Two pregnant women experienced irregular uterine contractions during IUT in the third trimester. Other than that, all other IUT treatments were successful. After IUT, there was a significant improvement in fetal hemoglobin, peak systolic velocity of the middle cerebral artery (MCA-PSV), and cardiothoracic area ratio. One case did not give birth in our hospital and the outcome of the fetus was not known. The other three fetuses achieved good outcomes. Conclusion: Positive preprocedural psychological counseling for pregnant women, close intraoprocedural and postprocedural pregnancy monitoring, and the prevention of maternal and fetal complications are the key to improving the clinical efficacy of IUT and achieving a good fetal outcome.


Assuntos
Anemia , Doenças Fetais , Cuidados de Enfermagem , Feminino , Humanos , Gravidez , Anemia/diagnóstico , Anemia/terapia , Velocidade do Fluxo Sanguíneo , Transfusão de Sangue Intrauterina/métodos , Sangue Fetal , Doenças Fetais/diagnóstico , Doenças Fetais/terapia , Feto , Estudos Retrospectivos , Resultado do Tratamento , Adulto Jovem , Adulto
8.
J Matern Fetal Neonatal Med ; 36(1): 2215898, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37290961

RESUMO

Feto-fetal hemorrhage (FFH) through placental vascular anastomoses is believed to be responsible for the death or damage of a "second twin" after the demise of a "first twin (co-twin)" in monochorionic twin pregnancies. However, the timing of FFH has been difficult to determine. The resulting anemia in the surviving twin can be suspected by the finding of an elevated middle cerebral artery peak-systolic velocity (MCA-PSV), but this elevation may lag for at least 4 h after the demise of the first twin. Knowledge of the timing of FFH may have important clinical implications, as it may dictate if and when attempts to prevent death or damage to the second twin by delivery or intrauterine fetal transfusion would be warranted. We present a case that supports the notion that FFH occurs before the actual demise of the first twin. A review of the literature was also conducted.


Assuntos
Doenças Fetais , Transfusão Feto-Fetal , Gravidez , Feminino , Humanos , Placenta , Doenças Fetais/terapia , Gêmeos , Gravidez de Gêmeos , Hemorragia , Transfusão Feto-Fetal/diagnóstico por imagem , Gêmeos Monozigóticos
9.
Ultrasound Obstet Gynecol ; 62(4): 552-557, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-37128167

RESUMO

OBJECTIVE: While in-utero treatment of sustained fetal supraventricular arrhythmia (SVA) is standard practice in the previable and preterm fetus, data are limited on best practice for late preterm (34 + 0 to 36 + 6 weeks), early term (37 + 0 to 38 + 6 weeks) and term (> 39 weeks) fetuses with SVA. We reviewed the delivery and postnatal outcomes of fetuses at ≥ 35 weeks of gestation undergoing treatment rather than immediate delivery. METHODS: This was a retrospective case series of fetuses presenting at ≥ 35 weeks of gestation with sustained SVA and treated transplacentally at six institutions between 2012 and 2022. Data were collected on gestational age at presentation and delivery, SVA diagnosis (short ventriculoatrial (VA) tachycardia, long VA tachycardia or atrial flutter), type of antiarrhythmic medication used, interval between treatment and conversion to sinus rhythm and postnatal SVA recurrence. RESULTS: Overall, 37 fetuses presented at a median gestational age of 35.7 (range, 35.0-39.7) weeks with short VA tachycardia (n = 20), long VA tachycardia (n = 7) or atrial flutter (n = 10). Four (11%) fetuses were hydropic. In-utero treatment led to restoration of sinus rhythm in 35 (95%) fetuses at a median of 2 (range, 1-17) days; this included three of the four fetuses with hydrops. Antiarrhythmic medications included flecainide (n = 11), digoxin (n = 7), sotalol (n = 11) and dual therapy (n = 8). Neonates were liveborn at 36-41 weeks via spontaneous vaginal delivery (23/37 (62%)) or Cesarean delivery (14/37 (38%)). Cesarean delivery was indicated for fetal SVA in two fetuses, atrial ectopy or sinus bradycardia in three fetuses and obstetric reasons in nine fetuses that were in sinus rhythm at the time of delivery. Twenty-one (57%) cases were treated for recurrent SVA after birth. CONCLUSION: In-utero treatment of the near term and term (≥ 35-week) SVA fetus is highly successful even in the presence of hydrops, with the majority of cases delivered vaginally closer to term, thereby avoiding unnecessary Cesarean section. © 2023 International Society of Ultrasound in Obstetrics and Gynecology.


Assuntos
Flutter Atrial , Doenças Fetais , Taquicardia Supraventricular , Feminino , Humanos , Lactente , Recém-Nascido , Gravidez , Antiarrítmicos/uso terapêutico , Flutter Atrial/tratamento farmacológico , Cesárea , Digoxina/uso terapêutico , Edema , Doenças Fetais/diagnóstico por imagem , Doenças Fetais/terapia , Feto , Hidropisia Fetal , Estudos Retrospectivos , Taquicardia , Taquicardia Supraventricular/tratamento farmacológico , Taquicardia Supraventricular/diagnóstico
10.
Fetal Diagn Ther ; 50(3): 206-214, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37231949

RESUMO

INTRODUCTION: We aimed to evaluate the neuroimaging findings and long-term neurodevelopmental outcomes of fetuses and children following intrauterine blood transfusion (IUT) for parvo B19 infection-induced anemia compared to those with RBC alloimmunization. METHODS: We conducted a retrospective cohort study including women who underwent an IUT due to fetal anemia between 2006 and 2019 in a tertiary, university-affiliated medical center. The cohort was divided into two groups: a study group - fetuses affected by congenital parvo B19 infection; and a control group - fetuses affected by RBC alloimmunization. Retrospective data such as antenatal sonographic evaluations, fetal brain MRI results, and short-term fetal and neonatal outcomes were collected. All children underwent a neurodevelopmental evaluation after birth using a Vineland questionnaire. Primary outcome was defined as the presence or absence of neurodevelopmental delay. Secondary outcome was defined as the presence of abnormal fetal neuroimaging findings such as cerebellar hypoplasia, polymicrogyria, intracranial hemorrhage, or severe ventriculomegaly. RESULTS: Overall, 71 fetuses requiring at least one IUT were included in the study. Of these, 18 were affected by parvo B19 infection and 53 by RBC alloimmunization with various associated antibodies. Fetuses in the parvo B19 group presented at an earlier gestational age (22.91 ± 3.36 weeks vs. 27.37 ± 4.67 weeks, p = 0.002) and were more affected by hydrops (93.33% vs. 16.98%, p < 0.001). Three fetuses out of the 18 (16.67%) fetuses in the parvo B19 group died in utero following the IUT. Abnormal neuroimaging findings were detected in 4/15 (26.7%) of the parvo B19 survivors versus 2/53 (3.8%) of fetuses affected by RBC alloimmunization (p = 0.005). There was no difference in long-term neurodevelopmental delay rates between the children in the study and control groups, as assessed at the average age of 3.65 and 6.53 years, accordingly. CONCLUSION: Fetal anemia due to parvo B19, treated with IUT, might be associated with increased rates of abnormal neurosonographic findings. The correlation between those findings and long-term adverse neurodevelopmental outcomes requires further investigation.


Assuntos
Anemia , Doenças Fetais , Infecções por Parvoviridae , Parvovirus B19 Humano , Criança , Recém-Nascido , Gravidez , Feminino , Humanos , Pré-Escolar , Lactente , Estudos Retrospectivos , Transfusão de Sangue Intrauterina/métodos , Doenças Fetais/diagnóstico por imagem , Doenças Fetais/terapia , Anemia/diagnóstico por imagem , Anemia/etiologia , Anemia/terapia , Neuroimagem
11.
Neoreviews ; 24(5): e285-e299, 2023 05 01.
Artigo em Inglês | MEDLINE | ID: mdl-37122058

RESUMO

Prenatal diagnosis of congenital heart disease makes it possible to optimize and coordinate care of the fetus and pregnant person. Benefits encompass the full spectrum of pre- and perinatal care, from counseling to optimization of pregnancy care and fetal intervention. Prenatal diagnosis reduces the likelihood of postnatal hemodynamic compromise and improves long-term neurodevelopmental outcomes. Despite the benefits, prenatal diagnosis rates remain suboptimal, particularly for lesions that are not seen on standard 4-chamber imaging views. Improving prenatal diagnosis rates requires education and outreach efforts targeting community practices where most initial screening occurs.


Assuntos
Doenças Fetais , Cardiopatias Congênitas , Gravidez , Feminino , Humanos , Diagnóstico Pré-Natal , Doenças Fetais/diagnóstico , Doenças Fetais/terapia , Cardiopatias Congênitas/diagnóstico , Cardiopatias Congênitas/terapia , Feto , Cuidado Pré-Natal/métodos
12.
J Pediatr Surg ; 58(6): 1107-1110, 2023 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-36914465

RESUMO

PURPOSE: Fetal alloimmune hemolytic anemia (AHA) resulting from maternal antibodies against fetal erythrocytes may require fetal administration of immunoglobulin-G (IgG) via invasive methods. IgG can reach the fetal circulation after transamniotic fetal immunotherapy (TRAFIT). We sought to both develop a model of AHA and to test TRAFIT as a potential treatment. METHODS: Sprague-Dawley fetuses (n = 113) received intra-amniotic injections on gestational-day 18 (E18, term = E21) of either saline (control; n = 40), anti-rat-erythrocyte antibodies (AHA; n = 37), or anti-rat-erythrocyte antibodies plus IgG (AHA + IgG; n = 36). At term, blood was procured for red blood count (RBC), hematocrit, or ELISA for inflammatory markers. RESULTS: There was no difference in survival [95% (107/113)] across groups (p = 0.87). Both hematocrit and RBC were significantly lower in the AHA group than controls (p < 0.001). Although still significantly lower than controls (p < 0.001), both hematocrit and RBC significantly increased in AHA + IgG group compared to AHA alone (p < 0.001). Pro-inflammatory TNF-α and IL1-ß were significantly elevated from controls in the AHA group, but not in AHA + IgG (p < 0.001-0.159). CONCLUSIONS: Intra-amniotic injection of anti-rat-erythrocyte antibodies can reproduce manifestations of fetal AHA, constituting a practical model of this disease. Transamniotic fetal immunotherapy with IgG reduces anemia in this model and may emerge as a new minimally invasive means of treatment. TYPE OF STUDY: Animal and laboratory study. LEVEL OF EVIDENCE: N/A (animal and laboratory study).


Assuntos
Anemia Hemolítica , Doenças Fetais , Imunoterapia , Animais , Humanos , Ratos , Líquido Amniótico , Doenças Fetais/terapia , Imunoglobulina G , Ratos Sprague-Dawley
13.
J Clin Ultrasound ; 51(2): 273-282, 2023 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-36785501

RESUMO

Maternal hyperoxygenation (MHO) consists of giving pregnant women (60% to 100%) oxygen through a facemask and using ultrasound assess or monitor the influence on fetal cardiovascular circulation. This review discusses the findings and the utility of acute and chronic MHO in various fetal diseases.


Assuntos
Doenças Fetais , Feto , Gravidez , Feminino , Humanos , Feto/irrigação sanguínea , Diagnóstico Pré-Natal , Oxigênio/uso terapêutico , Pulmão , Doenças Fetais/diagnóstico por imagem , Doenças Fetais/terapia
14.
Transfusion ; 63(1): 257-262, 2023 01.
Artigo em Inglês | MEDLINE | ID: mdl-36349479

RESUMO

BACKGROUND: Pyruvate Kinase (PK) deficiency is the most common enzyme defect of glycolysis, leading to congenital hemolytic anemia, which can occur during the neonatal period. STUDY DESIGN AND METHODS: We report the prenatal management of fetal anemia related to PK deficiency in a family with a severe proband. RESULTS: The couple had a first child born with hydrops, whose PK deficiency was diagnosed at 18 months of life. He was treated with allogeneic bone marrow transplantation. The second child was free from disease. For the third pregnancy, the amniocentesis revealed a PK deficiency. Weekly ultrasound monitoring of the middle cerebral artery velocity allowed the detection of severe fetal anemia. Two intrauterine red blood cell transfusions (IUTs) were performed, raising the fetal hemoglobin from 6.6 to 14.5 g/dl at 28 weeks' gestation and from 8.9 to 15.3 g/dl at 31 weeks. A hematopoietic stem cell allograft was discussed prenatally but not chosen, as it would not have significantly changed the perinatal prognosis. The patient delivered a 2730 g girl at 37 weeks, with hemoglobin of 13.6 g/dl. The child presented with neonatal jaundice treated with phototherapy and received postnatal transfusions. DISCUSSION: When a proband is identified in a family, fetal investigation is warranted, to set up third-trimester ultrasound surveillance and perinatal management. In case of fetal severe anemia of unknown etiology, the workup on fetal blood sampling before IUT should comprise the search for erythrocytes enzymopathies, such as PK deficiency. IUTs allow safer full-term delivery in cases with PK deficiency.


Assuntos
Anemia Hemolítica Congênita não Esferocítica , Anemia , Doenças Fetais , Gravidez , Recém-Nascido , Masculino , Criança , Feminino , Humanos , Piruvato Quinase , Transfusão de Sangue Intrauterina/efeitos adversos , Anemia/etiologia , Anemia/terapia , Anemia Hemolítica Congênita não Esferocítica/complicações , Anemia Hemolítica Congênita não Esferocítica/terapia , Anemia Hemolítica Congênita não Esferocítica/diagnóstico , Doenças Fetais/diagnóstico por imagem , Doenças Fetais/terapia
15.
Semin Thromb Hemost ; 49(4): 402-408, 2023 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-36368687

RESUMO

Fetal and neonatal alloimmune thrombocytopenia (FNAIT) is a common cause of severe thrombocytopenia in newborns. Intracranial bleeding may lead to severe neurological sequelae and mortality. Current management of pregnancies at risk is suboptimal. Prenatal FNAIT diagnosis commonly requires invasive procedures and therapy is associated with a high treatment burden. The present review explores advances in the field and their potential contribution to modification of the diagnostic and therapeutic landscape. Topics addressed include the role of noninvasive prenatal testing using fetal cell free DNA, insights into novel and prospective therapeutic options achieved through the development of murine models of FNAIT as well as the forecast for the progress in pregnancy risk stratification through advancement in the investigation of biological characteristics of alloantibodies and their association with the risk of fetal bleeding.


Assuntos
Antígenos de Plaquetas Humanas , Doenças Fetais , Trombocitopenia Neonatal Aloimune , Gravidez , Feminino , Recém-Nascido , Humanos , Animais , Camundongos , Trombocitopenia Neonatal Aloimune/diagnóstico , Trombocitopenia Neonatal Aloimune/terapia , Doenças Fetais/diagnóstico , Doenças Fetais/terapia , Cuidado Pré-Natal/métodos , Diagnóstico Pré-Natal/métodos , Hemorragia
16.
Fetal Diagn Ther ; 49(11-12): 528-535, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36574766

RESUMO

INTRODUCTION: Hemoglobin H-Pakse (Hb H-PS) disease is a variant of non-deletional Hb H disease associated with various degrees of anemia. The disorder is rare but commonly seen in Southeast Asia. However, the prenatal course of Hb H-PS disease has never been published. The objective of this report was to describe prenatal diagnosis and management of Hb H-PS disease, which is theoretically much more critical in fetal life than adult life. CASE PRESENTATION: The prenatal courses of two fetuses affected by Hb H-PS were comprehensively explored. Both of them showed sonographic signs of fetal anemia at 19-20 weeks of gestation (increased cardiac size and increase middle cerebral artery peak systolic velocity [MCA-PSV]). On follow-up scans, both revealed frank hydropic signs at 22-24 weeks. One fetus died at 24 weeks, shortly before the scheduled intrauterine blood transfusion (IUT). The other one underwent IUT at 22 weeks, leading to completely reversed hydropic signs, which resulted in successful outcomes that ended with the delivery of a healthy baby at term. The fetus needed only one IUT, and the course of anemic status improved in late pregnancy. IUT in this case was possibly beneficial to adult life. CONCLUSION: Fetuses with Hb H-PS may be associated with hydrops fetalis, usually occurring at mid-pregnancy. The hydrops tends to improve in late gestation. If they can pass through this most critical period in utero without anemic insults in developing organs, good long-term prognosis can be expected. This successful prenatal diagnosis and intrauterine treatment may encourage care providers to pay more attention to fetal Hb H-PS disease, to prevent anemic hypoxia in developing organs and adult diseases of fetal origin.


Assuntos
Anemia , Doenças Fetais , Feminino , Adulto , Gravidez , Humanos , Hidropisia Fetal , Hemoglobina Fetal , Ultrassonografia Pré-Natal , Doenças Fetais/terapia , Anemia/terapia , Transfusão de Sangue Intrauterina , Artéria Cerebral Média/diagnóstico por imagem , Velocidade do Fluxo Sanguíneo
17.
Expert Rev Hematol ; 15(11): 987-998, 2022 11.
Artigo em Inglês | MEDLINE | ID: mdl-36264850

RESUMO

INTRODUCTION: Hemolytic disease of the fetus and newborn (HDFN) is a condition caused by maternal alloantibodies against fetal red blood cells (RBCs) that can cause severe morbidity and mortality in the fetus and newborn. Adequate screening programs allow for timely prevention and intervention resulting in significant reduction of the disease over the last decades. Nevertheless, HDFN still occurs and with current treatment having reached an optimum, focus shifts toward noninvasive therapy options. AREAS COVERED: This review focusses on the timely identification of high risk cases and antenatal management. Furthermore, we elaborate on future perspectives including improvement of screening, identification of high risk cases and promising treatment options. EXPERT OPINION: In high-income countries mortality and morbidity rates due to HDFN have drastically been reduced over the last decades, yet worldwide anti-D mediated HDFN still accounts for 160,000 perinatal deaths and 100,000 patients with disabilities every year. Much of these deaths and disabilities could have been avoided with proper identification and prophylaxis. By implementing sustainable prevention, screening, and disease treatment measures in all countries this will systemically reduce unnecessary perinatal deaths. There is a common responsibility to engage in this cause.


Assuntos
Anemia , Eritroblastose Fetal , Doenças Fetais , Morte Perinatal , Recém-Nascido , Humanos , Feminino , Gravidez , Eritroblastose Fetal/diagnóstico , Eritroblastose Fetal/etiologia , Eritroblastose Fetal/prevenção & controle , Hemólise , Doenças Fetais/diagnóstico , Doenças Fetais/etiologia , Doenças Fetais/terapia , Isoanticorpos
19.
Neoreviews ; 23(10): e677-e688, 2022 10 01.
Artigo em Inglês | MEDLINE | ID: mdl-36180736

RESUMO

Diabetic embryopathy is defined as congenital anomalies that are linked to maternal diabetes. The association between diabetes and fetal, neonatal, and long-term complications is well-established. These complications include organ or structural maldevelopment, fetal growth abnormalities, and learning/psychiatric comorbidities. Recent studies have elucidated the pathophysiology behind these conditions and outlined new management approaches. Caudal regression syndrome, also known as sacral agenesis, is a well-known but less described complication of maternal diabetes. The purpose of this review is to summarize existing research on common neonatal morbidities in infants of mothers with diabetes with a focus on caudal regression syndrome and its long-term associations.


Assuntos
Anormalidades Múltiplas , Diabetes Gestacional , Doenças Fetais , Doenças do Recém-Nascido , Gravidez em Diabéticas , Diabetes Gestacional/diagnóstico , Diabetes Gestacional/terapia , Feminino , Doenças Fetais/diagnóstico , Doenças Fetais/etiologia , Doenças Fetais/terapia , Humanos , Lactente , Recém-Nascido , Doenças do Recém-Nascido/diagnóstico , Doenças do Recém-Nascido/etiologia , Doenças do Recém-Nascido/terapia , Gravidez , Gravidez em Diabéticas/terapia
20.
Eur J Obstet Gynecol Reprod Biol ; 274: 171-174, 2022 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-35661539

RESUMO

OBJECTIVES: Fetal anemia secondary to incompatibility between maternal-fetal blood types can result in hydrops and demise. Intrauterine transfusions have improved survival in experience centers. Our objective was to determine the practice patterns amongst fetal centers. STUDY DESIGN: Thirteen fetal centers across the world were surveyed. Results from all participating centers were recorded, analyzed, and presented as ratios. Questions on the survey were related to experience of the physician, preferred methods of transfusion, fetal surveillance, and timing of delivery. RESULTS: Differences amongst centers were as follows: 54% of the centers performed transfusions in operating room, the remaining did them in a clinic room or close to the operating room; 31% did not use maternal anesthesia, 31% used oral or intravenous sedation and 38% used a combination of local with oral or intravenous sedation. The similarities include: 84% performed intravenous transfusions, while 2 centers reported intraperitoneal and intracardiac transfusions were performed for very early cases; 85% of centers performed the last transfusion at 34-35 weeks and 77% electively delivered their patients at 37 weeks. CONCLUSION: Method of transfusion and delivery timing was similar in most centers; however, differences were seen in location of procedure, anesthetic coverage, and surveillance. Further assessment is needed to determine if these differences in practice have any potential neonatal effects.


Assuntos
Anemia , Doenças Fetais , Transfusão de Sangue Intrauterina/métodos , Feminino , Sangue Fetal , Doenças Fetais/terapia , Feto , Humanos , Recém-Nascido , Gravidez
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