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Pediatric Hydrops Fetalis: Background, Pathophysiology, Etiology. Hydrops fetalis is a nonspecific finding that is easily detected using prenatal ultrasonography. Despite extensive pre- and postnatal investigations, including postmortem pathologic examination of the fetus, the etiology may remain unknown in about 1.
Most patients with hydrops diagnosed in early fetal life have chromosomal anomalies, whereas cases diagnosed after the second trimester are caused mainly by cardiovascular diseases. In a study 1. 56 cases of hydrops in a neonatal intensive care unit (NICU), Lin et al found the major etiology and associated diagnosis consisted of 3. An etiology and associated diagnosis could be determined in 8. One study reviewed 2.
The use of Rho. GAM in the at- risk mother, administered prior to maternal isoimmunization, should have made this an entirely preventable disorder. Sadly, this has not been the case. Although a dramatic reduction in Rh. Install Spring Tool Suite Ubuntu Software. D sensitization has been achieved with Rho. GAM, . One study noted this cause for one in five women with Rh sensitization; the prevalence of hydrops in this group was a stunning 8.
Many of these result in profound fetal anemia and hydrops. Because many other such antigens are likely, maternal antibody screening should at least search for those already demonstrated to lead to fetal hydrops. Molecular genetic technologies, specifically polymerase chain reaction (PCR) testing, have been particularly demonstrated to provide more precise and complete genotyping. Other heritable fetal hemolytic anemias have been associated with fetal hydrops. Most are uncommon, autosomal recessive genetic diseases (eg, pyruvate kinase deficiency, glucose phophate isomerase deficiency), and their association with fetal hydrops is limited to one or two reports.
G- 6- PD deficiency is a more common, X- linked recessive disorder; however, G- 6- PD has been infrequently associated with fetal hydrops. Making the diagnosis is important in these rare conditions, because they are compatible with a relatively normal life and fetal transfusions should be effective. Fetal RBC hemolysis from placental transfer of maternal immunoglobulin (Ig) G antibody against fetal RBC antigens (isoimmune disease) continues to account for approximately 1. Early and precise diagnosis is of enormous importance, because highly effective fetal therapy is available and long- term outcome is unimpaired in infants with these causes for hydrops. Although fetal imaging confirms the presence of hydrops, it does so only after the fact. Thus, referral to a maternal- fetal medicine specialist is very beneficial. Studies preceding and predicting fetal deterioration include amniotic fluid bilirubin (delta optical density at 4.
The degree of fetal anemia is indirectly measured by the middle cerebral artery velocity using Doppler ultrasonography. Disorders of RBC production, resulting in functional fetal aplastic anemia, are particularly important causes of fetal hydrops. The role of infection with B1. V is increasingly recognized.
Use of a sensitive and precise diagnostic test (PCR) has demonstrated that perhaps 2. During seasons of particularly high prevalence, the proportion is much higher. Early diagnosis is crucial because fetal treatment by direct transfusion has been effective, the virus has no teratogenic effects, and growth and development of the survivors appear to be normal. Heritable disorders of hemoglobin alpha- chain production are important causes of hydrops in Asian populations. These hemoglobinopathies have become increasingly relevant in the United States because of relatively recent immigration patterns, particularly in the West. A report from Hawaii over a 1.
This condition, ranging from 1 in 5. Thai population, has been considered to be a fatal fetal condition (Bart hydrops). A handful of survivors of hydrops fetalis due to alpha- thalassemia have been reported; however, all required fetal transfusions, all required repeated frequent transfusions after birth, and all surviving males had hypospadias. However, opportunities for treatment, such as stem cell transplantation, bone marrow transplantation, and gene replacement therapy, may hold promise for future infants with this condition. Fetal diagnosis of the condition has been confirmed (using PCR) from fetal DNA samples of chorionic villus, fetal fibroblast, and from fetal blood. Once disorders of hemoglobin alpha- chain production are confirmed, fetal interventions have been based on hematocrit and hemoglobin levels obtained by direct cordocentesis.
Ultrasonographic findings are nonspecific, and they occur late. Several simple maternal screening techniques have been suggested, but DNA- based studies using a testing system that allows unequivocal identification of haplotypes commonly detected in Asian Americans (- SEA in 6. FIL in 1. 1%) appear to be most promising in this country. A multiplex PCR assay developed by Jomoui et al appears to show promise in providing an accurate prenatal diagnosis of Bart hydrops fetalis syndrome.
Some are fatal, but most are manageable after birth; some are associated with malformation syndromes. These heritable disorders all lead to hydrops in the same manner, as do the other conditions listed above. Profound anemia leads to high- output cardiac failure and increased central venous pressure (CVP). Early and precise diagnosis is important for fetuses with correctable conditions (eg, need for and timing of fetal transfusions) and for fetuses with conditions that are not correctable (to permit parents to understand options and participate in decisions about pregnancy management). Gene therapy may also hold promise for some of these babies in the future.
Fetal hemorrhage is another important cause of fetal hydrops. Acute bleeding may be local or more generalized. Unless the origin is from a tumor mass, the bleeding may not be recognized early enough to intervene. Thus, fetal imaging is essential, and a careful examination, particularly of those sites where bleeding has been associated with hydrops, is essential for prompt and proper fetal treatment.
Isoimmune fetal thrombocytopenia is probably more common than has been reported and, because treatment may be effective in this condition, maternal screening for platelet antibodies should be routine in all cases in which the cause of fetal hydrops remains undetermined. Sacrococcygeal teratoma is relatively common, . Controlled trials are needed to be certain that currently proposed interventions are more helpful than harmful, but these interventions hold considerable promise. Effective treatment is especially important for this condition because associated anomalies are rare, and fully normal development is possible.
Once again, fetal imaging studies are the cornerstone for diagnosis and management of sacrococcygeal teratoma. Disruptions of the fetomaternal circulation may be placental or related to tumors (choriocarcinoma, chorangioma), trauma, or partial placental abruption. Early diagnosis of fetomaternal hemorrhage requires a maternal blood smear to assess the proportion of circulating cells with fetal hemoglobin (resistant to acid elution). Unfortunately, automated modifications of this test are less specific and sensitive than the original Kleihauer- Betke test, and several newer tests have been proposed. Of these tests, the most promising appear to be either immunofluorescent flow cytometry or DNA analysis using PCR. It is difficult to determine which test to use and when to perform it because, in most reported cases, the diagnosis is usually too late to allow effective fetal intervention.
The earliest warning of the condition in most recent series has been reduced fetal body movements accompanied by sinusoidal fetal heart rate patterns and altered fetal biophysical profile. Confirmation of fetal anemia by direct cordocentesis is the final step to transfusion. Unfortunately, fetal transfusion has often been ineffective due to continued, repeated, massive fetal hemorrhages.
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