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At least 253 records · Page 14Linked to original sources
PubMed2006

Correction of hemophilia as a proof of concept for treatment of monogenic diseases by fetal spleen transplantation.

Previous clinical attempts to correct genetic deficiencies such as hemophilia or Gaucher disease by transplantation of allogeneic spleen were associated with aggressive graft versus host disease, mediated by mature T cells derived from the donor spleen. We show that a fetal pig spleen harvested at the embryonic day 42 stage, before the appearance of T cells, exhibited optimal growth potential upon transplantation into SCID mice, and the growing tissue expressed factor VIII. Transplantation of embryonic day 42 spleen tissue into hemophilic SCID mice led to complete alleviation of hemophilia within 2-3 months after transplant, as demonstrated by tail bleeding and by assays for factor VIII blood levels. These results provide a proof of principle to the concept that transplantation of a fetal spleen, obtained from a developmental stage before the appearance of T cells, could provide a novel treatment modality for genetic deficiencies of an enzyme or a factor that can be replaced by the growing spleen tissue.

Animals↗
PubMed1993

[Maternal and cord blood thyroid hormones in Graves' disease and fetal states].

Serum concentrations of thyroid hormones (T3, T4, fT3 and fT4), TSH and TRAb in 14 mothers with Graves' disease at 1-4 weeks before delivery were comparably studied with cord blood hormone levels and various fetal states. Twelve mothers were on anti-thyroid drugs and 2 were drug-free, with 8 being euthyroid and 6 being hyperthyroid. Serum concentrations of T3, T4 and fT3 in cord blood were all the same regardless of maternal thyroidal function. Though cord blood TRAb levels correlated with maternal levels, cord fT4 levels were low in those who given antithyroid drugs. TSH levels in cord blood were low in Cesarean section delivery and babies with low birth weight. Birth weight and gestational weeks were both inversely correlated with maternal T4, fT4, fT3 and TRAb concentrations. Thus, maternal hormone levels at late stage of pregnancy in Graves' disease could be useful indices for perinatal risk.

Adult↗
PubMed1988

Perinatal infections and immunity.

An increasing number of infectious agents are now recognized to be important causes of perinatal morbidity and mortality. Most of these agents produce asymptomatic or mild infections in the mother; however, some can cause severe or fatal disease in the fetus. In each case, the infectious agent is transmitted from the mother to the child, usually by the transplacental, hematogenous route. The time of maternal infection during gestation frequently influences the chance of fetal infection and severity of fetal disease. The pathogenesis of these infections involves direct infection of the developing fetal tissues. In some cases this infection can interfere with morphogenesis or cause severe tissue destruction. Very late effects are now recognized with some perinatal infection, thus it is important to conduct longitudinal studies of infected children. Fetal disease can be prevented or reduced if prior exposure of the mother has resulted in complete or partial immunity. Immune responses in the fetus, which become detectable at about 20 to 22 weeks gestation, can be used for diagnostic purposes. They also appear to provide some degree of protection of the fetus from severe or fatal disease with certain agents when infection occurs late in gestation. The prevention of fetal damage by perinatal infections can be accomplished by protection of the mother through the appropriate use of vaccines, avoidance of exposure, treatment with immunoglobulins or the use of chemotherapy. Treatment of the child also involves the use of immunoglobulins and chemotherapy.

Female↗
PubMed1991

Congenital heart disease and fetal thoracoabdominal anomalies: associations in utero and the importance of cytogenetic analysis.

We examined the frequency with which congenital heart disease (CHD) and cytogenetic abnormalities were found associated with omphalocele, gastroschisis, duodenal atresia and posterior diaphragmatic hernias. We performed fetal echocardiograms on 80 patients with these diagnoses and found congenital heart disease in 13 of 37 with omphalocele (35%), 2 of 17 with gastroschisis (12%), 4 of 15 with duodenal atresia (27%), and 2 of 11 with posterior diaphragmatic hernia (18%). Karyotypes were obtained in 74 and were abnormal in 24 (32%). Although most fetuses with these extracardiac malformations and abnormal karyotypes had associated CHD, many did not. Normal karyotypes were found in 69% of fetuses with CHD and omphalocele, and 50% of fetuses with CHD and duodenal atresia. We conclude that CHD may be present in fetuses with extracardiac malformations whether or not the karyotype is normal and that the prenatal evaluation of fetuses with these lesions should include both karyotype and fetal echocardiography. Although karyotypes play an important role in prenatal diagnosis, they are not predictive of normal cardiac structure when normal in the abnormalities studied. Even when the karyotype is normal in the presence of these abnormalities, fetal echocardiography is indicated.

Abdominal Muscles↗
PubMed1987

Ultrasonically guided direct umbilical cord blood sampling.

Ultrasonically guided umbilical cord blood sampling (funicentesis) allows rapid karyotyping and diagnosis of fetal viral infections and other fetal diseases. This technique may also aid in the management of fetal disease. One of three fetuses studied had a chromosomal abnormality, trisomy 18. None had evidence of viral infection.

Adult↗
PubMedDate not supplied

Pathological and biochemical studies of fetal Krabbe disease.

Morphological and biochemical analysis of tissue from a 21-week-old fetus with Krabbe disease was performed. Galactosylceramidase activity was virtually absent in cultured amniotic cells obtained during the pregnancy of this fetus. The prenatal diagnosis was confirmed by enzymatic analysis of fetal cultured skin fibroblasts and by enzyme analysis of fetal brain, kidney and liver. The galactocerebroside content of brain and spinal cord of the affected fetus was essentially identical to that observed in an age-matched control fetus. Accumulation of galactosylsphingosine was found in all tissues examined from the fetus with Krabbe disease. The highest galactosylsphingosine level was detected in spinal cord of the affected fetus: it was 40 times the concentration observed in controls. The occurrence of inclusion bodies were limited to spinal cord of the fetus with Krabbe disease. These data verify that the pathological and biochemical findings of Krabbe disease are present during the second trimester of pregnancy.

Brain↗
PubMed1989

[Severe fetal hemolytic disease. Evaluation and successful treatment by means of cordocentesis].

Ultrasonically guided access to the fetal umbilical circulation offers an alternative to the standard management of the severe isoimmunized pregnancy. This technique allows fetal blood sampling, direct hematocrit analysis and intravascular transfusion. A severely Rh isoimmunized pregnancy is described in which five intrauterine transfusions of blood were given directly into the umbilical vein under ultrasound visualization. Technical aspects of the procedure and complications are discussed.

Adult↗
PubMed1979

The ultrasonic demonstration of fetal abnormalities in utero.

The demonstration of fetal diseases and anomalies in utero can now be performed with a high degree of accuracy with modern ultrasonic equipment. This paper describes the more common and important fetal anomalies which can be demonstrated by ultrasound and indicates the importance of meticulous attention to technique and the significance of the acquistion of skill in real-time sonography by the physician-sonologist. The thoroughness of all obstetric sonographic examinations is emphasized to enable detection of unsuspected fetal anomalies. Specific methods to demonstrate these anomalies in the high-risk patient are also described. Several pitfalls in the diagnosis of fetal disease in utero are included which show the nonspecificity of some of the ultrasonic signs.

Abdominal Muscles↗
PubMed1984

Gestational diabetes and screening during pregnancy.

The oral glucose tolerance test is an unreliable test in screening for diabetogenic fetal disease. In diabetogenic fetopathy due to gestational diabetes (White class A diabetes), the insulin content in the umbilical cord blood as well as in the fetal urine is considerably raised. As increased amounts of insulin pass into the amniotic fluid via the fetal urine, the fetal disease can be diagnosed from the amniotic fluid insulin content. In 75 pregnant women with potential diabetes, the blood sugar value was below 160 mg/dL at maximum under glucose loading in 28 patients; it was over 200 mg/dL in 25 patients. However, diabetogenic fetopathy was present in only 14 patients. The endangered and the healthy fetus could be distinguished in each case by amniotic fluid insulin content. The mean amniotic fluid insulin values in diabetogenic fetopathy were about seven times the normal.

Amniotic Fluid↗
PubMed1978

Ultrastructural changes of human sural nerves in the neuropathy induced by intrauterine methylmercury poisoning (so-called fetal Minamata disease).

Biopsy of the sural nerve was performed on three patients with severe Minamata disease of more than 10 years duration. There were so many unmyelinated and poorly myelinated nerve fibers that myelinated fibers scattered irregularly in small numbers or in groups of peculiar features in the intraneural bundle. Abnormaly thin or poorly formed myelin sheaths were noticed. Incomplete myelination and abnormal myelination varied in size and shape appeared as fetal anomaly. Regenerated axons extremely small in size remained singly or in groups following regenerative sprouting. Sometimes, extremely small axons with normal myelination were noticeable, while the axons were lost, leaving myelin sheaths. Axons occasionally contained increased neurofilaments. Schwann cells were not so increased as in adult Minamata disease. Degenerative changes of nerve fibers still proceeded, presumably because the patients lived in the mercury-contaminated district. Myelin degenerations and glycogen deposits in the axoplasm were identified.

Adolescent↗
PubMed1989

[Treatment of fetal hemolytic disease using plasmapheresis].

Report about the therapy of severe Morbus haemolyticus fetalis in 15 pregnant women by plasmapheresis alone. Fetal survival rate was 67%. One of three children with hydrops fetalis survived. Plasmapheresis may be used in combination with intrauterine transfusion and improves treatment of Morbus haemolyticus fetalis.

Erythroblastosis, Fetal↗
PubMed1995

A family with combined Farber and Sandhoff, isolated Sandhoff and isolated fetal Farber disease: postnatal exclusion and prenatal diagnosis of Farber disease using lipid loading tests on intact cultured cells.

UNLABELLED: An earlier described patient with combined sphingolipidoses, Farber and Sandhoff disease, had two healthy older brothers and two further sibs, one with Sandhoff disease and one (a fetus) with Farber disease, showing segregation of the respective genes. The prenatal diagnosis in the latter was performed using lipid (sphingomyelin and glucosylceramide) loading tests on the cultured amniotic fluid cells. After 1-3 days of incubation the cells' lipid extract revealed radioactive ceramide to be released and highly accumulated. The deficiency in acid ceramidase was known from the patient with the combined diseases. Confirmation of the prenatal Farber diagnosis was done by similar loading tests on the fetal fibroblasts and by analysis of liver lipids of the less than 18-week-old fetus. CONCLUSION: This is the first report on the use of lipid loading tests on intact cultured cells for prenatal diagnosis of Farber disease. The postnatal diagnosis of Farber disease can also be readily made using those tests, as was shown in four further cases.

Abortion, Eugenic↗