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Bovine abortions associated with Bacteroides fragilis fetal infection.

Two Santa Gertrudis cattle from a herd of 105 aborted within a 24-hour period. Bacteroides fragilis was isolated from tissues of each aborted fetus. Histopathologic lesions included placentitis and bronchopneumonia in which gram-negative, rod-shaped organisms were visible. The diagnostic workup failed to reveal other causes of abortion. Anaerobes are rarely implicated in bovine abortions, and no other report was found that described abortion in cattle due to B. fragilis.

Abortion, Veterinary↗

[Prenatal diagnosis of hereditary lysosomal diseases].

Prenatal diagnosis was carried out in 10 families suffering from lysosomal diseases: Tay-Sachs disease--5 families, Sandhoff disease--1 family, GM1-gangliosidosis--1 family and Hunter disease--3 families. Diagnosis of Tay-Sachs disease was excluded in fetuses of two families, Sandhoff disease--in one family, GM1-gangliosidosis--in one family, Hunter disease--in two families. Tay-Sachs disease was found in two fetuses and in one neonate. In two fetuses was found Hunter disease (twin pregnancy). The results of prenatal diagnosis were corroborated by postnatal studies of the neonates funicular blood and of autopsies of the aborted fetuses tissues. Application of several independent procedures for prenatal diagnosis of hereditary lysosomal diseases enabled to exclude erroneous diagnosis.

Female↗

Prenatal diagnosis of glycogen storage disease type 1b using denaturing high performance liquid chromatography.

Glycogen storage disease type 1b (GSD1b) is an autosomal recessive inborn error of metabolism caused by deficiency of glucose-6-phosphate translocase (G6PT1). Current laboratory diagnosis for GSD1b is established by a functional enzyme assay of glucose-6-phosphatase in both fresh and detergent-treated liver homogenates. This procedure requires liver biopsy and is impractical for routine prenatal diagnosis owing to the high morbidity of fetal liver biopsy. Recently, the gene for GSD1b has been cloned and the prevalent mutations in different ethnic groups have been determined. In this study, prenatal molecular diagnosis was performed for a Chinese family in which a previous child was born homozygous for the G149E mutation. We detected genomic sequence variants by heteroduplex formation, followed by denaturing high performance liquid chromatography (DHPLC). With this method, post-PCR analysis was shortened to 7 min. In the case we analysed, PCR products amplified from the fetal DNA yielded a single peak in the chromatogram, indicating a homozygous state in the fetus. When wild-type PCR products were mixed with fetal PCR products, two peaks were observed, indicating that the fetus was homozygous for the parental (G149E) mutation. Sequencing results confirmed this diagnosis. As a result, the pregnancy was terminated and the diagnosis was confirmed on DNA analysis of the aborted fetus. We show here that DNA mutation analysis can be used in the prenatal diagnosis of GSD1b and that DHPLC promises to be a robust technique for this and other prenatal molecular diagnoses.

Abortion, Eugenic↗

Sex chromosome mosaicism in gonads of a fetus with cystic hygroma and deletion of the short arm of Y chromosome including loss of SRY.

The SRY gene on the short arm of the Y chromosome is necessary for male development. Without SRY, patients with 46,XY karyotype develop as females, fail to achieve normal puberty and have dysgenic gonads and a high incidence of gonadoblastoma. Here we report a female fetus, aborted at 17 weeks of pregnancy, with a non-mosaic 46,X,del(Y)(p11.2).ish del(Y)(SRY-) karyotype diagnosed by classical cytogenetics and fluorescence in situ hybridization (FISH). Ovarian tissue was full of oocytes and mitotic figures. FISH studies of ovarian tissues with X and Y centromere probes revealed extensive sex chromosome mosaicism, manifested by loss of the Y chromosome and polysomy of the X chromosome. We propose that X chromosome polysomy is a post-zygotic event that arises to facilitate gonadal differentiation in the absence of all factors necessary for normal gonadal development.

Abortion, Induced↗

Fate of SRY, PABY, DYS1, DYZ3 and DYZ1 loci in Indian patients harbouring sex chromosomal anomalies.

We analysed chromosomes, conducted hormonal assays and screened genomic DNA of 34 patients with or without detectable Y chromosome for the presence/absence of SRY, PABY, DYS1, DYZ3 and DYZ1 loci and for mutations in the SRY gene. The samples studied represented cases of oligozoospermia, cryptorchidism, Swyer syndrome, Turner syndrome, male pseudohermaphroditism, XXY female syndrome, Klinefelter's syndrome, repeated abortion and instances of male infertility. Chromosomal constitutions and the level of hormones (FSH, LH, PRL, E2 and TSH) were found to be abnormal in several cases. A phenotypic female (P20) positive for all the Y-linked loci screened, showed mutations upstream of the HMG box in the SRY gene. In addition, one or more of the Y-linked loci were detected in several phenotypic females. Fluorescence in-situ hybridization of metaphase chromosomes and interphase nuclei of an aborted fetus with DYZ1 probe detected signals from normal to low levels to its complete absence confirming a complex Y chromosome mosaicism. Upon DNA analysis, the fetus was found to be positive for all the above-mentioned Y-linked loci. Organizational variation within the DYZ1 arrays and its correlation with recurrent spontaneous abortion may be followed-up in subsequent studies to substantiate this observation. This would augment genetic counselling to the affected couples. Prospects of this approach in the overall management of clinical cases with sex chromosome-related anomalies are discussed.

Amino Acid Sequence↗

[Chlamydial infection in mass abortions in goats].

Etiologic and clinical-and-epizootiologic studies were carried out of a chlamydial infection in goat flocks where abortions took place on a mass scale. Discovered were two foci of chlamydial abortion. Two strains of Chlamydia psittaci were isolated from aborted fetuses and from placentas on two farms. The strains were identified both antigenically and morphologically. The serologic investigation of a total of 167 goats on 6 farms with abortions revealed that in the course of two enzootics as many as 93.67 per cent of the goats that miscarried had complement-fixing titers ranging from 1:32 to 1:1024, the average geometric titer being 84. In the contacts and the goats that gave birth normally the average geometric titers were 11.3 and 9.8, respectively. In four of the enzootics with abortions 82.14 per cent of the goats were serologically negative, and the average geometric titer was less than 2.

Abortion, Veterinary↗

[Congenital toxoplasmosis. Remarks apropos of serologic surveillance in 15,000 pregnant women].

The risk of acquired toxoplasmosis during pregnancy (1.2% of susceptible women) and of transmission of Toxoplasma gondii to the fetus (1% of neonates) was estimated from results of serial serological tests done in 15 132 pregnant women from 1977 to 1982. Congenital toxoplasmosis was studied in the product of 47 induced abortions and in 34 neonates. In aborted fetuses, congenital toxoplasmosis was established by serological tests in 3 cases and based on histological findings in 4. Among the neonates, 11 cases are reported; the 5 severe cases are due to early contamination.

Abortion, Induced↗

Modulation of the natural killer cell activity in pregnant mice alters the spontaneous abortion rate.

Effector cells associated with an aborting fetus appear to be both thymus derived (T) and natural killer (NK) cells. In order to test the hypothesis that NK cells are a major effector mediating early spontaneous abortion (less than day 8-10), CBA female mice mated by DBA/2 males were treated with either polyinosinic/cytidylic acid (poly I:C) to boost NK activity, or rabbit anti-asialo GM1 (RaASGM1) to decrease NK activity. The results of the NK assays of the spleens of treated mice confirmed that the reagents had the expected effect on NK activity and an inspection of the uteri indicated a significant increase in aborted embryos after poly I:C and a marked decrease in spontaneous abortions after RaASGM1 treatment. Therefore, spontaneous abortions may be mediated in part by the cytotoxic activity of unregulated NK cells.

Abortion, Spontaneous↗

[Salmonella abortus ovis carrier state in dogs and rats].

Serologic and bacteriologic investigations were carried out with 10 dogs, guarding sheep flocks with and without Salmonella abortions, and 17 grey rats. It was found that both species of animals could harbour Salmonella abortus ovis provided they swallowed infective material (aborted fetuses and fetal membranes). It was shown that although lasting but 2 to 3 months only the carrier state could play a definite part in the epizootiology of Salmonella abortions in sheep.

Abortion, Veterinary↗

A fetus with recombinant of chromosome 8 inherited from her carrier father.

A pericentric inversion of chromosome 8, inv(8)(p23q22), in a male carrier resulted in an unbalanced recombinant, rec(8)dup q, inv(8)(p23q22), which was diagnosed prenatally. The features seen in the aborted fetus resembled the features seen in a previously affected child who received the identical recombinant from her carrier mother. In this particular inversion involving chromosome 8, both male and female carriers risk producing an unbalanced progeny. Different familial pericentric inversions are reviewed for the presence or absence of unbalanced recombinants.

Abortion, Spontaneous↗

Evaluation of an enzyme immunoassay for detection of Chlamydia psittaci in vaginal secretions, placentas, and fetal tissues from aborting ewes.

A commercially available enzyme immunoassay (EIA) for the detection of Chlamydia trachomatis in human urogenital and conjunctival specimens was compared with isolation in cell culture for the detection of Chlamydia psittaci in vaginal and placental swabs from aborting ewes and swabs of aborted fetal tissues. The EIA on vaginal swabs collected from 10 ewes experimentally infected with C. psittaci had a sensitivity of 85.7% and a specificity of 85.7%. Vaginal swabs collected at the time of abortion or within 3 days were the best samples for detection of chlamydial infection. The 29 vaginal swabs collected during this period from experimentally infected ewes were all strongly EIA-positive, and chlamydia were isolated from 28. The EIA on vaginal swabs from 78 field cases of abortion had a sensitivity of 78.0% and a specificity of 76.8%. The EIA on swabs of cotyledons from 65 placentas had a sensitivity of 100% and a specificity of 75.0% compared with isolation in cell culture. The EIA on 57 swabs of fetal tissues or body fluids from 10 aborted fetuses or weak lambs from experimentally infected ewes had a sensitivity of 26.6% and a specificity of 88.1% compared with isolation in cell culture. Limitations of the EIA are discussed.

Abortion, Veterinary↗

Bovine leptospirosis: experimental infection of pregnant heifers with a strain belonging to the Hebdomadis serogroup.

Twenty pregnant heifers were inoculated with a leptospire of the Hebdomadis serogroup. Leptospiraemia was accompanied by pyrexia which lasted from one to five days. Sixteen animals had relapses of fever. One of these aborted and two produced weak calves, one of which was premature. In the heifers, leptospires localised in the placentae, where they were demonstrable for 14-60 days after inoculation, and in the renal tubules for as long as 174 days. They were also demonstrated in liver, kidney and lung from the aborted fetus. Antibodies were detected in susceptible heifers six days after inoculation and maximum titres of up to 1:100,000 developed between 11 and 21 days. A titre of 1:10 was demonstrated in the serum of a premature live calf. These findings indicated that leptospires of the Hebdomadis group were capable of causing abortion in cattle.

Abortion, Veterinary↗

Experimental neosporosis in pregnant ewes and their offspring.

Six groups of six pregnant ewes each were inoculated with 170,000 or 1,700,000 tachyzoites of Neospora caninum on gestation day 65, 90, or 120. All ewes seroconverted, and none showed signs of illness other than abortion. Regardless of the inoculum dose, all ewes inoculated on gestation day 65 aborted; ewes inoculated on gestation day 90 aborted, gave birth to weak lambs, or gave birth to clinically normal lambs; and all ewes inoculated on gestation day 120 gave birth to clinically normal lambs. Using an immunohistological procedure that stains bradyzoites, we observed protozoal cysts in brains of 11 of 29 (38%) aborted fetuses, in one of four (25%) weak lambs, and in seven of 18 (39%) clinically normal lambs. Cysts were not observed in extraneural tissues from two clinically normal lambs that had cysts in the brain. No evidence of infection was observed in tissues of five ewes examined using an immunohistological procedure that stains N. caninum tachyzoites and bradyzoites. Multifocal nonsuppurative encephalitis was observed in 46 of 51 (90%) aborted, weak, or clinically normal lambs. Cerebral necrosis, dystrophic mineralization, and meningitis were also commonly identified in live and aborted lambs (even when severely autolyzed). Nonsuppurative, necrotizing placentitis was observed in 15 of 17 (88%) placentas. Nonsuppurative myositis was common in fetuses but not in live lambs. Inflammation occurred less frequently in liver and lung. Clinical and pathological features of neosporosis in sheep closely resemble those of bovine neosporosis and ovine toxoplasmosis. Although abortion caused by naturally occurring neosporosis in sheep has not been reported, diagnosticians should carefully distinguish between neosporosis and toxoplasmosis in cases of ovine protozoal abortion unless future investigations exclude the likelihood of naturally acquired neosporosis in sheep.

Abortion, Veterinary↗

Etiology of prune belly syndrome: evidence of megalocystic origin in an early fetus.

BACKGROUND: Prune belly syndrome is a rare and complicated condition affecting the genitourinary organs and abdominal wall. The etiology of abdominal musculature deficiency in prune belly syndrome is controversial. We present a case that should elucidate the etiology of this syndrome. CASE: A spontaneously aborted fetus at 12 weeks' gestation with an early stage of prune belly syndrome was investigated by necropsy and light and electron microscopy. Megalocystis resulting from urethral atresia was diagnosed. There was no hydroureter or hydronephrosis, and both light and electron microscopy demonstrated evidence of development of the abdominal musculature. Both testes were elevated as a result of the megalocystis. CONCLUSION: These findings suggest that hypoplasia of the abdominal musculature and cryptorchidism might develop secondary to the presence of chronic megalocystis in this syndrome.

Abdominal Muscles↗

Autosomal dominant cataracts of the fetus: early detection by transvaginal ultrasound.

Cataracts are lens opacities that account for approximately 10% of blindness in children. We report on four consecutive pregnancies in a woman at risk for recurrent autosomal dominant cataracts in which extensive ultrasound studies were helpful in establishing the correct diagnosis. The normal appearance of the fetal lens is that of a ring with a central sonolucency, but in cases of cataracts the lens appears hyperechogenic to various degrees. In the first pregnancy, normal lenses were seen at 15 postmenstrual weeks and, at birth, the baby girl had normal lenses. In the second pregnancy, the male fetus was affected by a left-sided cataract and a right-sided anophthalmia which were diagnosed at 16 postmenstrual weeks. The histological examination of the specimen from the aborted fetus correlated with the sonographic diagnosis. The third pregnancy, also a male fetus, had bilateral cataracts suspected at 14 weeks, but the final diagnosis was made at 19 weeks and confirmed at 21 weeks. The couple opted to terminate the pregnancy and the histology confirmed the presence of congenital cataracts. In the fourth pregnancy, we diagnosed asymmetry of the orbital sizes and bilateral cataracts at 15 weeks. In conclusion, the diagnosis of fetal cataract from the second trimester of pregnancy is possible and imaging of the fetal lenses should be part of the routine anatomical survey. Since the exact onset of fetal cataracts is uncertain at present, in cases at risk, serial sonograms may be indicated.

Adult↗

Predicting first-trimester spontaneous abortion. Ratio of mean sac diameter to crown-rump length compared to embryonic heart rate.

First-trimester spontaneous abortions have been predicted from alterations in the gestational sac size and embryonic heart rate. To evaluate which parameter or combination of parameters has the greatest predictive value, a prospective study was carried out during the first trimester of pregnancy. Pregnancy sac size, crown-rump length and heart rate were measured in 603 embryos, of which 580 continued beyond 13 weeks' gestation and 23 ended in first-trimester spontaneous abortions. Based on the continuing pregnancies, we constructed nomograms relating the ratio of mean sac diameter to crown-rump length (S/CR) to gestational age (last menstrual period [LMP]), to crown-rump length (CRL) and to embryonic heart rate (EHR). The S/CR ratios of the 23 embryos that spontaneously aborted in the first trimester were plotted on these nomograms to determine the significance of values falling outside the 95% confidence limits. Plotting the S/CR ratios of the aborted fetuses on the S/CR versus LMP nomogram gave a sensitivity of 78.3%, a specificity of 97.8% and a false-positive rate of 2.2%. The same population was evaluated for abortion risk using EHR nomograms, giving a sensitivity of 65.2%, specificity of 98.2% and false-positive rate of 1.8%. Our findings suggest that S/CR measurement in early pregnancy may be a simple and reliable method of predicting first-trimester abortions.

Abortion, Spontaneous↗

Ovine chlamydial abortion: characterization of the inflammatory immune response in placental tissues.

Ovine chlamydial abortion is a serious cause of fetal mortality in several sheep-rearing countries. The causal agent, Chlamydophila abortus (Chlamydia psittaci), does not generally induce clinical signs in the ewe other than abortion; this is associated with macroscopically visible damage in the placenta, which may be inflamed and thickened. To investigate the nature of the placental inflammation, seven pregnant sheep were inoculated subcutaneously at 70 days' gestation with C. abortus (strain S 26/3). A further five pregnant sheep received control inoculum by the same route at the same stage of pregnancy. Three of the infected ewes produced stillborn lambs and four produced live lambs. Lesions characteristic of chlamydial infection were present in all placentas except for two from one ewe that gave birth to twins. Histopathological examination of placental tissues from aborted fetuses showed a mixed inflammatory cell infiltrate with vasculitis and thrombosis in the mesenchyme of the intercotyledonary membranes. Cells expressing the macrophage-associated molecule CD 14 were found to be numerous, as were cells expressing major histocompatibility complex class II (MHC II) molecules. Many cells expressing messenger RNA (mRNA) encoding for tumour necrosis factor-alpha (TNF-alpha) were demonstrated, but few cells expressing interferon gamma mRNA and none expressing interleukin-4 mRNA were detected. The fetal immune response included small numbers of CD4+ and CD8+ cells, gamma delta T cells and B cells. It is concluded that abortion is the result of several factors, including destruction of tissue by C. abortus, vascular thrombosis, and an inflammatory response by the fetus. Production of TNF-alpha by fetal macrophages expressing MHC II molecules may be of considerable significance in the pathogenesis of abortion.

Abortion, Veterinary↗

Prenatal diagnosis of Fukuyama-type congenital muscular dystrophy by microsatellite analysis.

We applied microsatellite analysis to prenatal diagnosis of Fukuyama-type congenital muscular dystrophy (FCMD), an autosomal recessive severe muscular dystrophy associated with brain malformations. Recent identification of the FCMD gene locus at 9q31-q33 provided the basis for prenatal diagnosis and carrier detection. We recently developed new microsatellite markers which are closer to the FCMD gene and improved the phenotype probability. Nine fetuses in eight unrelated FCMD families, including a twin pregnancy, were analysed using the newly developed markers. Four fetuses showed over 99% probability of being healthy either as normal homozygote (n = 1) or heterozygote carrier (n = 3) and were born without signs of FCMD. The other five fetuses were diagnosed with a probability of FCMD of 99% or greater; all of the latter parents decided to terminate the pregnancies. Brain malformations characteristic of FCMD in one of the aborted fetuses confirmed the diagnosis of FCMD at 19 weeks of gestation.

Adult↗