Hydrops fetalis

Most patients in aplastic crisis will recover spontaneously. Therefore, treatment is supportive. If anemia is severe or symptomatic, transfusion may be indicated. Infection with human parvovirus B19 is the most common cause of aplastic crisis. Isolate infected patients because parvovirus is highly contagious. Pregnant women should avoid contact with infected patients because midtrimester infection with parvovirus may cause hydrops fetalis and stillbirth.6,27... 

Of 26 fetuses with hydrops fetalis and supraventricular tachycardias, 25 received transplacental drug therapy prenatal conversion occurred in 15 (82). Nine fetuses were converted to sinus rhythm using either flecainide (n = 7) or amiodarone (n = 2) as first-line therapy, while digoxin either alone or in association with sotalol failed to restore sinus rhythm in all cases. After first-line therapy, supraventricular tachycardia persisted in 10 fetuses, nine of whom received amiodarone alone or in association with digoxin as second-line therapy, and five of whom converted to sinus rhythm. Of 11 neonates who received amiodarone in utero, two developed raised thyroid stimulating hormone concentrations on postnatal days 3-4 they received thyroid hormone and had normal outcomes. 

The homozygous state of a-thalassemia type-1 (a-Thi) leads to a form of erythroblastosis fetalis and intrauterine death [ (K2, L18, L20, L21, L22, L23, L24, L26, P4, T6, T7, T8) and others]. This form of hydrops fetalis is found in Chinese from various countries, in Filippinos, and in Thais. All children are either stillborn or die within hours after birth. The hematological observations usually include anemia with reticulo-cytosis, hypochromia with macrocytosis, aniso- and poikilocytosis, and many erythroblasts. The red cells sickle rather easily. Most fetuses are hydropic (but not all). 

Small quantities (less than 1%) of Hb-Bart s are often observed in blood from Negro newborns (HIO, H22, S3) the incidence approaches the 20%. In some babies a larger amount (up to 5%) is present. The -chain deficiency does not express itself beyond infancy. Because Hb-H disease and hydrops fetalis have not been found in the Negro, it seems that either the a-Th2 type or an additional type of a-thalassemia is present. The babies with the higher amounts of Hb-Bart s are considered to be homozygous for the deficiency and those with the minute amounts heterozygous. 

The global distribution of a-thalassemia is not easy to assess because of the difficulties in defining a-thalassemia heterozygosity in the adult. Most of the available data originate from analyses of subjects with Hb-H disease, hydrops fetalis, and related conditions. As indicated previously, the highest incidence is in East Asia (Thailand, Malaysia, South Vietnam, Indonesia), Southern Europe (Sardinia, other parts of Italy, Greece, Turkey), West Africa, and, to a much lesser extent, the Middle East and European countries. 

L18. Lie-Injo, L. E., Alpha chain thalassemia and hydrops fetalis in Malaya Report of five cases. Blood 20, 581-590 (1962). 

T6. Thumasathit, B., Nondasuta, A., Silpisornkosol, S., Lousuebsakul, B., Unchali-pongse, P., and Mangkornkanok, M., Hydrops fetalis associated with Bart s hemoglobin in northern Thailand. J. Pediat. 73, 132-138 (1968). 

Trotter A, Kaestner M, Pohlandt F, Lang D. Unusual electrocardiogram findings in a preterm infant after fetal tachycardia with hydrops fetalis treated with flecainide. Pediatr Cardiol 2000 21(3) 259-62. 

Ravindranath Y, Paglia DE, Warrier I, Valentine W, Nakatani M, Brockway RA. Glucose phosphate isomerase deficiency as a cause of hydrops fetalis. N Engl J Med 1987 316 258-61. 

Hb Bart s hydrops fetalis is almost invariably fatal,with some fetuses dying in utero and others surviving a few hours after birth. Treatment using intrauterine transfusion has had very limited success, with potential complications in the children of growth retardation and severe brain damage, which may possibly be related to long-standing intrauterine anemia. 

Chur DH, Waye JS. Hydrops fetalis caused by alpha thalassemia an emerging health care problem. Blood 1998 91 2213-22. 

The clinical features range in severity from hydrops fetalis with death in utero—through the onset in infancy of severe skin lesions with transfusion-dependent hemolytic anemia—to mild skin lesions, resembling PCT, that do not start unto adult life. Late-onset cases may also develop in association with hematological malignancy, particularly myelodysplasia. "... 

MPS VII Sly Dysostosis multiplex, hepatosplenomegaly wide spectrum of severity, including hydrops fetalis and neonatal form j8-Glucuronidase Dermatan sulfate, heparan sulfate, chondroitin 4-, 6-sulfates... 

Hydrops fetalis 0 a-Thalassemia trait 0.25 Lethal (death Cord blood mostly Hb... 

Hemoglobin Bart s hydrops fetails This occurs due to inheritance of two a-thalassemia-1 allels and the offspring does not have any functional a genes. This condition is incompatible with life and results in stillborn or critically ill fetus with hydrops fetalis. Hemoglobin... 

Treatment of aplastic crisis is primarily supportive and most patients recover spontaneously. The patient may need blood transfusions if anemia is severe or symptomatic. Reticulotye count helps to determine if there is red cell production and the need for transfusions. The most common cause for aplastic crisis is acute infection with human parvovirus B19. Parvovirus is contagious therefore infected patients should be placed in isolation. In addition, contact with pregnant health care providers should be avoided because parvovirus infection during the midtrimester of pregnancy may result in hydrops fetalis and... 

FIGURE 3.6 Hydrops fetalis caused by parvovirus B19 infection. Normoblasts within the villous capillaries show intranuclear viral antigen. (Immunoperoxidase staining with DAB and hematoxylin counterstain x400.)... 

Parvovirus B19 has been associated with asymptomatic infections, erythema infectiosum, acute arthropathy, aplastic crisis, hydrops fetalis, and chronic anemia and red cell aplasia. In addition, parvovirus B19 infection has been recognized as an important cause of severe anemia in immunocompromised leukemic patients receiving chemotherapy. ... 

Essary LR, Vnencak-Jones GL, Manning SS, et al. Frequency of parvovirus B19 infection in nonimmune hydrops fetalis and utility of three diagnostic methods. Hum Pathol. 1998 29 696-701. 

Theca lutein cysts are ovarian cysts that are lined by luteinized theca cells. They develop in patients with high levels of serum human chorionic gonadotropin. They are not as common as other ovarian cysts. They are associated with multiple gestations, trophoblastic disease, and pregnancies comphcated by hydrops fetalis, or in ovarian hyperstimulation syndrome. 

Glycoprotein sialidase (neuraminidase) (EC 3.2.1.18). Other lysosomal activities in liver sometimes increased. Sialyloligosaccharides accumulate. Mental retardation, skeletal abnormalities and Hurler-type facial features may be present in varying degrees, or absent. Hepatosplenomegaly, renal involvement and hydrops fetalis sometimes present. 

Glucosylceramidase (EC 3.2.1.45). Enzyme activity about 15 % of normal in (a). Enzyme totally absent in (b) and (d), and about 2.5 % of normal in (c). Glu-cosyl ceramide accumulates in liver, spleen, bone marrow and leukocytes it accumulates in the brain in (b), (c) and (d), and in the lungs in some cases of (b). Hepatosplenomegaly. Anemia. Pancytopenia. Ostealgia and osteoporosis. Purpura. Cerebral degeneration in (b) and (c). Type (a) is manifested between 1 and 60 years, and may result in death at any time from infection or liver dysfunction. Type (b) is manifested in the first year, and is fatal by the end of the first or second year. Type (c) is manifested at 6-20 years, and is fatal in adolescence or early adulthood. lype (d) results in death in utero (ascites hydrops fetalis). 

The Sly syndrome is similar in clinical features to that of the mucopolysaccharidosis type I disorders. Patients have unusual facies, depressed nasal bridge, prominent maxillae, and anteverted nostrils. By 2.5 years of age, developmental retardation is observed. Several cases of jff-glucuronidase deficiency have been reported in newborns with non-immune hydrops fetalis. Urinary excretion of glycosaminoglycans are elevated and variable [1]. The prevalence of Sly syndrome is estimated at 1 in 2,111,000, the rarest of all mucopolysaccharidoses [2]. 

The neonatal form expresses as nonimmune hydrops fetalis with ascites and survival is not more than a few months... 

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