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PubMed1990

Definitive prenatal diagnosis for type III glycogen storage disease.

Prenatal diagnosis for type III glycogen storage disease was performed by using (1) immunoblot analysis with a polyclonal antibody prepared against purified porcine-muscle debranching enzyme and (2) a qualitative assay for debranching-enzyme activity. Cultured amniotic fluid cells from three pregnancies (three families in which the proband had absence of debrancher protein) were subjected to immunoblot analysis. Two unaffected and one affected fetus were predicted. In addition, cultured amniotic fluid cells from nine pregnancies (eight families) were screened with a qualitative assay based on the persistence of a polysaccharide that has a structure approaching that of a phosphorylase limit dextrin when the cells were exposed to a glucose-free medium. This qualitative assay predicted six unaffected and three affected fetuses. All predictions by either method were confirmed postnatally except for one spontaneously aborted fetus. Our data indicate that a definitive diagnosis of type III glycogen storage disease can be made prenatally by these methods.

Amniotic Fluid↗
PubMed1966

Hepatitis due to equine abortion virus. Comparison between the liver histology in human, canine, duckling, and equine viral hepatitis.

Five livers of equine fetuses, aborted due to the action of equine abortion virus, five livers from men, two of whom died of epidemic hepatitis and three obtained by needle biopsies, 5 livers of dogs with infectious canine hepatitis and 7 livers of ducklings that had hepatitis, were studied histopathologically. The foals' livers were studied by several staining methods and the others by H. E. only. The results indicate that the lesions are quite similar in the four species with the appearance of nuclear inclusion bodies only in foals and dogs. The strong staining properties of the nuclear inclusion bodies in infectious canine hepatitis and the weak staining properties of the equine virus abortion reveal that the protein-DNA association is different resulting in a different electropolarity. The lesions in foals are of two main types, one a Necrotic-Mosaic Type in which the hepatocyte degeneration is irregularly distributed within the hepatic lobules and the other an Hyperplastic Type in which marked regeneration occurs. In the Hyperplastic Type the practical absence of plasmocytes in foals' livers might suggest that if the newborn is a female, abortions may occur later in life because the virus remained alive in colts which were born in an immune tolerance state.Histologically the picture in the livers of aborted foals assume features of a viral hepatitis similar to the viral hepatitis in men, dogs and ducklings.

Abortion, Veterinary↗
PubMed1983

Transplacental transmission of bovine adenoviruses.

Type 1 bovine adenovirus has been isolated from cell cultures prepared from the kidneys of a 7-month-old bovine fetus, taken from a slaughterhouse, and types 4, 6 and 8 from cell cultures prepared from the testicles of four neonatal, precolostral calves. Sera of these precolostral calves possessed virus-neutralizing antibodies in titers of 1:4--1:16. Bovine adenoviruses of types 4 and 8 have also been isolated from two bovine fetuses aborted from an unknown cause. Relying upon these findings the possible vertical (transplacental) transmission of bovine adenoviruses is presumed. Though a cause-and-effect relationship between abortion and adenovirus infection could not be detected, it is probably that infection during fetal development cannot be indifferent to the fetus or the neonatal calf.

Abortion, Veterinary↗
PubMed2003

Detection of EHV-1 and EHV-4 in placental sections of naturally occurring EHV-1- and EHV-4-related abortions in the UK: use of the placenta in diagnosis.

REASONS FOR PERFORMING STUDY: EHV-1 and EHV-4 abortion diagnosis is based upon detailed examination of the aborted fetus. However, in some cases, only the placenta is available for examination. Furthermore, the contribution of lesions in the placenta to pathogenesis and diagnosis of EHV-1 and EHV-4 abortion has been neglected. OBJECTIVES: To assess the utility of placental examination in equine herpesvirus-1 (EHV-1) and EHV-4 abortion diagnosis. METHODS: Sections of allantochorion from 49 herpesvirus abortions were analysed by PCR, in situ hybridisation and immunostaining. RESULTS: Virus-specific nested PCR confirmed the presence of viral DNA in 46 cases; 41 cases were EHV-1-positive and 5 EHV-4-positive. Microscopic changes were nonspecific. Examination of the PCR-positive sections of allantochorion revealed EHV-1 DNA by in situ hybridisation (ISH) in 21 cases and EHV-4 in 4 cases. In 2 samples, DNA of both viruses was present on PCR and ISH. Viral antigen was found by immunohistology in 15 cases. Regarding the localisation of virus in the placentae, both viral DNA and antigen of EHV-1 and EHV-4 were found in endothelial cells of chorionic villi and, occasionally, in trophoblast epithelium. In the stromal endothelium, only EHV-1 was found. CONCLUSIONS: The data indicate that examination of placentae is a useful diagnostic aid in EHV-1 and EHV-4 abortion diagnosis. POTENTIAL RELEVANCE: Virological examination of the placenta should become standard practice in equine abortion investigations, particularly in those cases where the fetus is not available for examination.

Abortion, Veterinary↗
PubMed1990

Toxoplasmosis and other causes of abortions in sheep from north central United States.

Between 1983 and 1989, we examined 1,201 aborted fetuses and dead lambs from the north central United States. Toxoplasmosis was diagnosed in 17.5%, campylobacteriosis in 9.9%, chlamydiosis in 4.7%, and miscellaneous infections in 15.1%. Inflammatory lesions suggestive of infectious causes were seen in 13%. Noninfectious causes were identified in 6.1%, and a diagnosis was not reached in 33.3%. An agglutination test was used to detect Toxoplasma gondii-specific antibodies in ovine fluids. Toxoplasma gondii antibodies were detected in 223 of 1,064 (20.9%) fluids from fetuses and dead lambs. Of 201 seropostive (greater than or equal to 16) fetuses and lambs, T gondii antibody titers (reciprocal) were 16 (21 fetuses and lambs), 32 (10 fetuses and lambs), 64 (2 fetuses and lambs), 128 (7 fetuses and lambs), 256 (9 fetuses and lambs), 512 (5 fetuses and lambs), 1,024 (15 fetuses and lambs), 2,048 (13 fetuses and lambs), 4,096 (13 fetuses and lambs), 8,196 (13 fetuses and lambs), 16,392 (19 fetuses and lambs), and greater than or equal to 32,784 (74 fetuses and lambs).

Abortion, Habitual↗
PubMed1987

Prenatal screening and pregnant women's attitudes toward the abortion of defective fetuses.

We studied the attitudes of 490 pregnant women toward the abortion of defective fetuses. Three hundred of these women were participating in a prenatal screening program for neural tube defects. Although theoretical accounts of the effects of behavior on attitude would suggest that participation in a screening program would affect abortion attitudes, evidence in support of such an association was weak. The overwhelming majority of women, regardless of whether they had participated in the screening program, believed that women are justified in having an abortion in the face of fetal abnormality. There was a sharp increase in the number of screening program participants who said they would have an abortion when the probability of the fetus being affected with a neural tube defect rose from 95 per cent to 100 per cent.

Abortion, Induced↗
PubMed1981

Prenatal diagnosis of alpha 1-antitrypsin deficiency by analysis of fetal blood obtained at fetoscopy.

Two women had each borne a child who had alpha 1-antitrypsin (alpha 1AT) deficiency Pi ZZ and who developed liver cirrhosis. In subsequent pregnancies, the women requested prenatal diagnosis. Samples of blood from the two fetuses were obtained at fetoscopy. In a control group of five Pi MM fetuses aborted by hysterotomy, the mean alpha 1AT level was 0.73 g/liter. Of the two fetuses at risk, one had an alpha 1AT concentration calculated as 0.60 g/liter, i.e., within the Pi MZ range. The electrofocusing pattern indicated a heterozygous Pi MZ phenotype which was confirmed at birth. The other fetus at risk had a markedly decreased concentration of alpha 1AT, 0.06 g/liter. Electrofocusing showed a homozygous Pi ZZ phenotype. Analysis of blood from the abortus confirmed these findings and thus the diagnosis of alpha 1AT deficiency. Speculation Most of the alpha 1-antitrypsin in amniotic fluid is derived from the mother. It therefore appears that the only possible way of making a prenatal diagnosis of alpha 1-antitrypsin deficiency is by examination of blood from the fetus. One fetus examined in the present study had an abnormal Z-pattern. This abnormality may indicate a disturbance of fetal liver function already in utero.

Female↗
PubMed1991

Prenatal diagnosis of thalassemia and hemoglobinopathies in Thailand: experience from 100 pregnancies.

In this review, we describe a simple strategy to detect the three severe thalassemic diseases commonly found in Thailand. Hb Bart's hydrops fetalis can be detected unambiguously by ultrasonography at 18-20 weeks of gestation or detected early in the first trimester by the gene amplification technique. Prenatal diagnosis for homozygous beta-thalassemia is better performed in the second trimester by in vitro protein synthesis. This is because the molecular defects of some beta-thalassemias are still unknown and homozygosity of the same mutation is low. In contrast, beta-thalassemia/Hb E is easily detected, in the first trimester, by direct visualization on electrophoresis or by dot blot analysis of enzymatically amplified DNA with a set of nonradioactively labeled oligonucleotide probes complementary to the most common mutations. We also found that the beta/gamma synthesis ratio in homozygous Hb E is similar to that of beta-thalassemia/Hb E and DNA analysis is the only method to distinguish these two conditions in the couple at risk of having either beta-thalassemia/Hb E or asymptomatic homozygous Hb E. In 100 pregnancies studied, the diagnoses were achieved in 96 pregnancies. Complications leading to fetal loss were found in 3 pregnancies: one woman developed amnionitis after fetal blood sampling; one had amniotic fluid leakage after the biopsy, and the third, carrying a normal fetus, aborted 10 days after fetal blood sampling with urinary tract infection and high fever. However, these figures are compatible with other reports and the risks are significantly lower than that of thalassemic disease the fetus is facing. One case of beta-thalassemia/Hb E was incorrectly diagnosed prenatally as being Hb E trait. In twenty-five pregnancies (25%) prenatally diagnosed to carry affected fetuses it was decided to have abortion. This study shows the feasibility of prenatal diagnosis for thalassemic diseases in Thailand which, in addition to screening and genetic counseling, can support prevention and control programs for thalassemia.

Female↗
PubMed1997

Induced abortion and the risk of breast cancer.

BACKGROUND: It has been hypothesized that an interrupted pregnancy might increase a woman's risk of breast cancer because breast cells could proliferate without the later protective effect of differentiation. METHODS: We established a population-based cohort with information on parity and vital status consisting of all Danish women born from April 1, 1935, through March 31, 1978. Through linkage with the National Registry of Induced Abortions, information on the number and dates of induced abortions among those women was combined with information on the gestational age of each aborted fetus. All new cases of breast cancer were identified through linkage with the Danish Cancer Registry. RESULTS: In the cohort of 1.5 million women (28.5 million person-years), we identified 370,715 induced abortions among 280,965 women (2.7 million person-years) and 10,246 women with breast cancer. After adjustment for known risk factors, induced abortion was not associated with an increased risk of breast cancer (relative risk, 1.00; 95 percent confidence interval, 0.94 to 1.06). No increases in risk were found in subgroups defined according to age at abortion, parity, time since abortion, or age at diagnosis of breast cancer. The relative risk of breast cancer increased with increasing gestational age of the fetus at the time of the most recent induced abortion: <7 weeks, 0.81 (95 percent confidence interval, 0.58 to 1.13); 7 to 8 weeks, 1.01 (0.89 to 1.14); 9 to 10 weeks, 1.00 >12 weeks, 1.38 (1.00 to 1.90) (reference category, 9 to 10 weeks). CONCLUSIONS: Induced abortions have no overall effect on the risk of breast cancer.

Abortion, Induced↗
PubMed1975

Observations on reproductive performance in the yearling mare.

Reproductive performance was studied in 137 yearling mares run with stallions in small groups for 3 months between June and August in 1968 to 1971 (four breeding seasons). Pregnancy diagnosis by repeated rectal palpation and qualitative tests for PMSG, showed that ninety-five mares conceived of which forty-four aborted spontaneously between Days 30 and 160 of gestation. Laboratory examination of twenty-one aborted fetuses failed to show any infectious agents. Serial quantitative and qualitative tests for PMSG in aborting animals gave results similar to those observed in mares with normal pregnancies. Plasma progestagen assays showed marked individual variations although the loss of the conceptus was always associated with a drop in progestagen level. The high incidence of early pregnancy loss in these pubertal mares may also be related to immaturity, inadequate nutrition and physical stress.

Abortion, Veterinary↗
PubMed1980

Evaluation of the rabbit as a laboratory model for infectious bovine rhinotracheitis virus infection.

Experimental infection of rabbits with infectious bovine rhinotracheitis virus (IBRV) produced diverse manifestations of disease which included abortion, conjunctivitis, dermatitis, vulvovaginitis, systemic infection, neonatal death and respiratory tract infection. Each disease syndrome was studied using virus isolation, fluorescent antibody examination and histologic examination. Conjunctivitis, dermatitis and vulvovaginitis lesions were characterized by edema, infiltration of mucosa and submucosa with inflammatory cells and ulceration of epithelium. Systemic infection resulted in severe necrosis of liver and adrenal glands with large numbers of cells containing intranuclear inculsions. Pregnant rabbits aborted within 48 hours following inoculation of IBRV. Virus infection and viral lesions were not demonstrated in aborted fetuses.

Abortion, Veterinary↗
PubMed2004

[Fetal and umbilical blood cord stem cells: a room for the obstetrician and gynaecologist. Part two].

Stem cells are undifferentiated cells, with the ability to self renew and to differentiate into specialised cells. Besides embryonic stem cells, adult, fetal and umbilical cord blood (UB) stem cells are to be distinguished. These cells are multipotent. Embryonic germ cells (EG) that also are fetal stem cells have proven to be truly pluripotent, since they are able to give derivatives of the three primitive embryonic layers. EG cells have a normal karyotype, and exhibit remarkable long-term proliferative potential. Fetal stem cells and UB cells have already been used in cell therapy trials (e.g., Parkinson's disease, congenital immunodeficiencies and hemopathies). The applications in the field of reproductive biology will lead to a better understanding of genomic imprinting with EG cells. The obstetrician and gynaecologist could act a central part in the production and study of fetal stem cells, using tissues from aborted fetuses or collecting cord blood stem cells.

Abortion, Induced↗
PubMed1988

Phenylalanine hydroxylase expression in liver of a fetus with phenylketonuria.

The expression and activity of phenylalanine hydroxylase was studied in the liver of a fetus aborted after prenatal diagnosis of phenylketonuria. No phenylalanine hydroxylase enzymatic activity or immunoreactive protein was detectable in the PKU liver specimen, though both enzymatic activity and immunoreactive protein were detectable in control specimens of similar gestational age. Phenylalanine hydroxylase messenger RNA of normal size was present in the PKU fetal liver at normal abundance. These results confirm the genetic diagnosis of PKU in this fetus and indicate that the mutations in this fetus affect translation or stability of the phenylalanine hydroxylase protein.

Abortion, Induced↗
PubMed1982

Prenatal enzymic diagnosis in 24 pregnancies with risk of Krabbe disease .

In 24 pregnancies at risk for Krabbe disease (KD) monitored by amniocentesis in the 15th to 18th week, the amniocytic galactosyl ceramide beta-galactosidase activity was either lower than 11% (n = 12) or higher than 28% (n = 12) of the mean control amniocytic activity (n = 27). For the low activity group, prenatal KD diagnoses were made and the fetuses aborted. In the tissue material available from 11 of them the diagnoses were confirmed enzymatically. Three fetuses were studied electron microscopically and typical tubulo-spicular inclusions were found in the 'pre-globoid cells'. In the children already born from the group with more than 28% of amniocytic lipid beta-galactosidase activity no signs of KD were detectable. In two of the families at risk of KD, four pregnancies followed the monitored ones, but, for obscure reasons, it came to our knowledge only after the birth of these four children; enzymic studies revealed one KD patient and three unaffected children (two of them possibly heterozygous). When comparing the total sample of 12 + 1 KD cases and 12 + 3 unaffected with the theoretical 7:31 ratio for affected/unaffected offspring, a significant prevalence of affected (chi 2 = 6.86; alpha = 0.01) was found.

Amnion↗
PubMed1994

Outcome of antenatally detected cystic dysplastic kidney disease.

Forty four fetuses with multicystic dysplastic kidney (MCDK) disease recognised on antenatal ultrasound were studied prospectively. In nine aborted fetuses and in five who died in the neonatal period the MCDK disease was bilateral or there were associated lethal abnormalities or syndromes. All surviving infants had unilateral disease and in six (20%) there was significant reflux into the normal contralateral kidney. Since 1988 the management of unilateral MCDK disease has been conservative with no child developing sepsis, hypertension, or malignancy. Serial ultrasound examinations suggest that MCDK lesions involute with time and conservative rather than operative management is favoured.

Female↗