Cases reported "Fetal Diseases"

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1/31. Use of recombinant human erythropoietin (EPO-alfa) in a mother alloimmunized to the Js(b) antigen.

    erythropoietin (EPO) is a glycoprotein hormone and the principal regulator of erythropoiesis in the fetus, newborn, and adult. EPO-alfa is erythropoietin manufactured by recombinant human dna technology (rhEPO). After counseling, a pregnant woman with anti-Js(b) in her serum was started on rhEPO (600 U/Kg, biweekly) to prevent anemia secondary to serial donations of her blood for fetal transfusions. After a total of 25 rhEPO infusions and autologous donation of 8 units of whole blood, maternal hemoglobin prior to the elective cesarean section at 37 weeks was 11.3 gm/dL. serum EPO concentration was determined in paired maternal and fetal blood samples, before ultrasound guided intravascular transfusions, in this alloimmunized Js(b)-negative and another Rh(D) alloimmunized pregnancy to determine possible correlations between maternal and fetal serum EPO. rhEPO prevented anemia in a patient who donated 8 units of blood from 18-37 weeks of pregnancy without inducing adverse biological effects such as hypertension or thrombotic complications in the placenta. Data presented in this study suggest that EPO does not cross the human placenta.
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2/31. Fetal brain infection with human parvovirus B19.

    Intrauterine parvovirus B19 infection is known to be one of the causes of hydrops fetalis. However, there are few reports of the pathologic changes in the central nervous system. Postmortem examination of a fetus revealed multinucleated giant cells of macrophage/microglia lineage and many small calcifications around the vessels, predominantly in the cerebral white matter. parvovirus B19 genome dna was detected in the nucleus of the multinucleated giant cells and solitary endothelial cells by polymerase chain reaction amplification and in situ polymerase chain reaction methods. capsid antigen was also demonstrated in the cytoplasm of the endothelial cells by immunofluorescent assay. Thus, intrauterine B19 parvovirus infection could be associated with marked neuropathologic changes in the fetal brain at the midembryonal period. Neurologic follow-up of complications may be necessary for children who survive the intrauterine infection.
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3/31. Successful treatment of alloimmune thrombocytopenia using corticosteroid therapy in a woman with two consecutive neonatal deaths--case report.

    Alloimmune thrombocytopenia is a serious fetal disorder resulting from platelet-antigen incompatibility between the mother and the fetus. In mild cases, the diagnosis is usually made upon detection of neonatal thrombocytopenia, but serious consequences such as fetal intracranial hemorrhage and/or unexplained fetal death may complicate the disorder. Various treatment modalities are suggested in the management of alloimmune thrombocytopenia, however, none has yet been confirmed as obviously superior. We report on the successful use of corticosteroids during pregnancy in a woman with a history of two consecutive neonatal deaths due to severe thrombocytopenia and HPA 5b platelet-specific antigen incompatibility.
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4/31. Prenatal intracranial hemorrhage and neurologic complications in alloimmune thrombocytopenia.

    Neonatal alloimmune thrombocytopenia results from platelet-antigen incompatibility between mother and fetus, leading to antibody-mediated destruction of fetal platelets. With a prevalence of 1 in 1000 births, approximately 4000 infants born in the united states each year develop neonatal alloimmune thrombocytopenia. Ten to 20% of affected neonates develop intracranial hemorrhage, with 25 to 50% occurring prenatally. We report three infants who developed prenatal hemorrhage. One died in utero, and the other two had cerebral porencephaly and neurologic deficits. Infants with neonatal alloimmune thrombocytopenia have elevated risks of perinatal death and neurologic complications, including cerebral palsy, hypotonia, cortical blindness, developmental delay, seizures, and psychomotor retardation. We also report our retrospective review of the new england Medical Center neonatal intensive care unit between 1990 and 1999. Using current management guidelines, including treatment of the mother with a weekly infusion of high-dose (1-2 g/kg) intravenous immunoglobulin and/or corticosteroids, all eight infants with neonatal alloimmune thrombocytopenia did well.
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5/31. Successful outcome in a fetus with an extremely low heart rate due to isolated complete congenital heart block.

    Isolated complete congenital heart block (CCHB) in a fetus is usually associated with the presence of autoantibodies to SSA (Ro) and SSB (La) antigens in the maternal circulation. Although the prognosis for the majority of fetuses is good, it is less favorable in fetuses with a ventricular rate < 55 bpm in early pregnancy or with a decrease in the ventricular rate by >/= 5 bpm during pregnancy. It is not known if the same prognostic criteria apply for the occasional fetus with isolated non-autoimmune CCHB. We report a case of a single fetus with an isolated non-autoimmune CCHB with an extremely low ventricular rate (37 bpm) in which the outcome was favorable. Dilated cardiomyopathy is a rare complication in patients with isolated CCHB, despite early institution of cardiac pacing, and is usually recognized after several months of relative well-being. It is assumed that in the majority of patients it represents a sequel to in utero autoimmune or postnatal reactivation myocarditis. However, the possibility of a tachycardia-induced cardiomyopathy caused by an excessively high pacing rate should also be taken into consideration, as was clearly demonstrated in our patient.
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6/31. Feto-maternal alloimmune thrombocytopenia due to HPA-5b incompatibility: a case report.

    Feto-maternal alloimmune thrombocytopenia (FMAIT) results from the maternal production of antibodies against fetal platelets with incompatible antigens inherited from the father. We present a case where this condition was diagnosed prenatally without previously affected siblings. The severe fetal thrombocytopenia was due to anti-HLA-5b maternal alloantibodies. This was treated successfully by intravenous immunoglobulins. Our case reflects that FMAIT due to anti-HPA-5b may be severe and may be corrected successfully with intravenous immunoglogulins.
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7/31. Rationale and results of in utero transplants of stem cells in humans.

    Following 18 years experience in postnatal fetal liver transplantation (FLT), we have developed a new therapeutical method, namely the in utero transplantation of stem cells from the human fetal liver. This early transplant takes advantage of the immunological tolerance that exists in young fetal recipients. The four fetuses that we treated were 28, 26, 17 and 12 weeks of age (weeks after fecundation). The first two patients had immunodeficiencies, the two other had thalassemia major. Donor cells were obtained from 7- to 12-week-old fetuses, with conditions approved by the National Committee for bioethics. Donors and recipients were not matched. The fetal cells were infused through the umbilical vein of three patients and injected intraperitoneally into the other one, under ultrasonic visualization. The first patient, bone in 1988, has evidence of engraftment and reconstitution of cell-mediated immunity: initially 10% then 26% of lymphocytes of donor origin (with distinct phenotype), T cell responses to tetanus toxoid and candida antigens. This child, who had bare lymphocyte syndrome, has no clinical manifestation of the disease and lives normally at home. The second child was born in 1989; donor cell engraftment has been proven (y chromosome in this female patient) and immunological reconstitution is in progress, allowing a normal life at home. The third patient has also evidence of donor cell take (y chromosome in a female patient) and a partial effect on thalassemia has been documented (donor haemoglobin present in small quantity). In all three cases, no side effect of any kind developed in the mother nor in the fetus.(ABSTRACT TRUNCATED AT 250 WORDS)
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8/31. Alloimmune thrombocytopenia: in utero treatment by high doses of intravenous gamma globulins.

    The authors report successful in utero treatment by high doses of intravenous gamma globulins in a case of neonatal alloimmune thrombocytopenia. early diagnosis allows an appropriate management: fetal blood sampling as early as 20 weeks of gestation; in case of fetal thrombocytopenia, treatment by intravenous gamma globulin (1.0 g/kg/b.w.) each week during 8 weeks or more; ultrasound screening of in utero hemorrhage, particularly intracranial hemorrhage; fetal blood sampling before delivery at term and in utero transfusion of platelet antigen negative in case of persistence of fetal thrombocytopenia.
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9/31. Noninvasive management of Rh partial null (D--) to supplement traditional management of rh isoimmunization.

    BACKGROUND: Rh partial null (D--) is a rare cause of Rh sensitization in an Rh-positive patient. Noninvasive management for this condition using middle cerebral artery Doppler studies was used to reduce invasive testing. CASE: An Rh D woman had an antibody titer of 1:512 to Rh-17, the Rh Cc/Ee protein. Rh typing revealed absence of any antigens at the Cc/Ee locus. Her husband was Rh D--, ccee. middle cerebral artery Doppler studies and serial amniocenteses for Delta OD(450) were performed. When testing suggested severe fetal anemia, two intrauterine transfusions were performed. CONCLUSION: middle cerebral artery Doppler studies can be used to predict fetal anemia before the first transfusion. However, the cutoff to predict subsequent anemia in Rh D-- after transfusion remains to be defined.
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10/31. brain macrophages and microglia in human fetal hydrocephalus.

    Whereas several studies have addressed the activation of microglia (the resident mononuclear phagocytes of the brain) and macrophages within the nervous system in experimental animal models of congenital and induced hydrocephalus, little is known of their state of activation or regional distribution in human fetal hydrocephalus. This investigation aimed to address such questions. Ten human fetal cases [20-36 gestational weeks (GW) at postmortem] previously diagnosed with hydrocephalus on ultrasound examination in utero, and 10 non-hydrocephalic controls (22-38 GW at postmortem) were assessed immufcnohistochemically with antibodies directed against MHC class II and CD68 antigens, and lectin histochemistry with lycopersicon esculentum (tomato lectin). Adjacent sections were also immunoreacted with an antiserum to laminin to detect cerebral blood vessels. Eight out of the 10 hydrocephalus cases showed numerous CD68 and tomato lectin-positive macrophages located at focal regions along the ependymal lining of the lateral ventricles (particularly within the occipital horn). However, only five of these cases demonstrated MHC class II positive macrophages associated with the ventricular lining. Microglial reactivity within periventricular regions could also be identified using the lectin in four cases, two of which were also immunoreactive with CD68 (but not with MHC class II). By comparison, in control cases five out of 10 fetal brains (aged between 20 and 24 GW) showed few or no ependymal or supraependymal macrophages. One case at 28 GW, and cases at 32 and 38 GW (two of which were diagnosed with intrauterine hypoxic-ischemia) did, however, show some MHC class II (CD68 negative) cells located at the ependymal surface. Nevertheless, these were not as numerous or intensely immunoreactive as in the hydrocephalus cases. microglia interspersed throughout the intermediate zone and circumscribing the basal ganglia were within normal confines in all cases examined. Hydrocephalic cases additionally showed focal regions of hypovascularization or alterations in the structure and orientation of capillaries within periventricular areas, compared to controls. The macrophage response detected at the ependymal lining of the ventricles and within the periventricular area in hydrocephalus may be related both to the severity of hydrocephalus and the age of the fetus.
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