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A 22/22 Robertsonian translocation has been identified in a woman with recurrent abortions by a Giemsa banding technique. Cytogenetic studies of the embryonic tissue derived from one of her spontaneous abortions have demonstrated that the aborted fetus had a 46,XX,-22,+t(22q22q) karyotype.
The prenatal diagnosis of the cerebro-hepato-renal syndrome of Zellweger (CHRS) was made by assaying the levels of very long chain fatty acids (VLCFAs) in amniotic fluid cell cultures, obtained by amniocentesis at 16 1/2 weeks of pregnancy. The family-at-risk, because they had previously borne a child with CHRS, accepted these results as indications of an affected fetus, and chose to terminate the pregnancy at 20 1/2 weeks of gestation. The diagnosis was confirmed by the phenotype of the aborted fetus and the presence of markedly elevated levels of VLCFAs in fetal liver homogenates. The prenatal diagnosis of CHRS, which can now readily be determined from amniotic fluid cell cultures, is an important step in genetic counselling of families-at-risk for this disease.
High densities of serotonergic 5-HT1A receptors, in excess of adult levels, were found in the human fetal brain between the 16th and 22nd weeks of gestation, 5-HT1A receptors were measured by quantitative autoradiography using brain sections of fetuses aborted at gestational ages 16-22 weeks. The highest receptor concentrations were detected in the cortex and hippocampus. Two brains obtained from fetuses with Down's syndrome at 22 and 24 weeks gestation exhibited abnormal receptor levels compared to age matched controls. The presence of an early, prenatal peak of 5-HT1A receptors in fetal cortex and hippocampus suggests that these receptors play a role in human brain development and may also be involved in developmental disorders such as Down's syndrome.
Congenital heart disease is a frequent feature of Turner syndrome. Although the most frequent cardiac lesion is coarctation of the aorta, a spectrum of cardiac defects occurs which is limited almost exclusively to defects associated with decreased blood flow through the left heart. We report the results of gross anatomic and microscopic dissection of 12 fetuses aborted between 16 and 26 weeks' gestation, with the classic Turner phenotype of nuchal cystic hygromas, hydrops fetalis, and female genitalia. Eight fetuses showed a consistent constellation of cardiac defects: diminution of the ascending aorta, large pulmonary artery ranging from 1 1/2 to three times the size of the aorta, large patent ductus arteriosus, and juxtaductal coarctation. Another fetus had hypoplastic left heart and aortic atresia. The remaining three fetuses had normal cardiac anatomy. The lymphatic vessels at the base of the great vessels were carefully examined in nine of the fetuses. Although there was no definite correlation between the degree of cardiac pathology and the extent of lymphatic aberrations at the base of the heart at the time of postmortem examination, the high incidence (75%) of left-sided flow defects among these fetuses, all of whom had large hygromas and severe edema, supports the hypothesis that there is a pathogenetic relationship between lymphatic obstruction and congenital heart disease in the 45,X Turner fetus.
Abortions apparently due to Neospora caninum in two Swiss dairy herds were investigated by means of a PCR and ELISA, and other potential causes were eliminated. In addition, a case-control study of 24 case herds and 24 control herds indicated that N caninum-associated abortions were more likely to occur in herds with antibodies to Coxiella burnetii (with an odds ratio [OR] of 3.38 with a 95 per cent confidence interval [CI] of 1.82 to 6.22), whereas the likelihood was less in herds with antibodies to Leptospira species (OR 0.34,95 per cent CI 0.13 to 0.75), or in herds with antibodies to bovine viral diarrhoea (BVD) virus (OR 0.75,95 per cent CI 0.56 to 1.00), or Chlamydia psittaci (OR 0.18,95 per cent CI 0.09 to 0.35), or in herds in which BVD virus had been isolated from an aborted fetus (OR 0.11,95 per cent CI 0.02 to 0-58).
OBJECTIVE: To evaluate if apoptosis occurs in human germ cells between 19 and 33 gestational weeks (GW). DESIGN: Human fetal ovaries were obtained from aborted fetuses aged 19-33 GW. SETTING: Rabin Medical Center, a major tertiary care and referral center. PATIENT(S): Twenty-seven women undergoing pregnancy termination. The abortions were mostly because of fetal anatomical or chromosomal abnormalities. INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): Microscopy studies, terminal deoxynucleotidyl transferase (TdT) assay (TUNEL), and immunocytochemistry for B-cell lymphoma/leukemia-2 (bcl-2). RESULT(S): TUNEL assay revealed a slight increase in apoptotic oocytes in fetuses from 23 GW, with a peak at 27 GW. Overexpression of bcl-2 was detected in all ovarian components, regardless of fetal age. CONCLUSION(S): There seems to be a slight increase in apoptosis in oocytes from 23 GW with a peak at 27 GW. However, it is very unlikely that these low apoptotic rates could be the cause of the extensive germ cell loss throughout human pregnancy. The overexpression of bcl-2 possibly suggests either that this gene is necessary to overcome extensive apoptotic activity or that it is responsible for the low apoptosis rates. However, these results should be considered with caution, since the ovaries were mostly from abnormal fetuses after feticide.
Two pregnancies of a family at risk for Sanfilippo disease type B were monitored in the first trimester. In one case an affected fetus was diagnosed on chorionic villi by the assay of N-acetyl-alpha-D-glucosaminidase and confirmed on cultured fibroblasts from the aborted fetus. Pathological findings are also reported and compared with changes observed later in life. The disease was excluded in the second pregnancy.
The aim of this radiographic study of human fetuses was to examine the pattern and sequence of ossification in the occipital bone and the spinal vertebrae. Together with previous studies of ossification of the human fetal basal cranium, this study can serve as a reference for normalcy in future studies of fetuses with neural tube defects and associated pathological development of the axial skeleton. Thirty-nine normal fetuses aborted between 9 and 14 weeks of gestation were examined. Based on the appearance of ossification centers in the bones under study, the fetuses could be grouped in four well-defined developmental stages, which were named occipito-spinal stages I-IV (OS I-IV). The OS stage was closely related to gestational age, crown-rump length, foot length, and degree of ossification in the hands and feet.
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Using a modified procedure by Solomons and Styner (1969), an evaluation of inorganic pyrophosphate (PPi) was performed on the amniotic fluid of two fetuses at risk for osteogenesis imperfecta (OI) at 14 1/2 weeks gestation. The parents of both cases had a previous child with OI, Type II. The normal control group at 14-16 weeks gestation had PPi values ranging from 22.0-59.2 micrograms/100 ml, with a mean of 38.6 +/- 9.51 micrograms/100 ml. In each at-risk fetus, the amniotic fluid PPi value was within normal range. The first baby was born phenotypically normal at term. Intrauterine radiographic and fetal sonograms were done on the second fetus at approximately 19 weeks gestation. Both showed evidence of OI, Type II. The pregnancy was terminated at 21 weeks. Radiologic studies of the aborted fetus were consistent with OI, Type II. Our results indicate that the evaluation of PPi levels in amniotic fluid is not the method of choice for prenatal diagnosis of OI.
Serum samples from 145 dairy and 65 beef cattle with reproductive disorders and 54 normally calving dairy cattle (controls) in Japan were tested for presence of Neospora caninum antibodies by use of an indirect fluorescent antibody test (IFAT, titer 1:200). Overall, seroprevalence of N. caninum was significantly higher (P < 0.001) in dairy cattle (20.0%, 29/145) than in beef cattle (1.5%, 1/65). In cattle which aborted, seroprevalence of N. caninum was significantly higher (P = 0.041) in dairy cattle (26.1%, 23/88, compared with controls (3.7%, 2/54)) than in beef cattle (5.0%, 1/20), indicating that neosporosis might be a more common problem in dairy cattle than in beef cattle in Japan. Seropositive cattle were 9.2 times more likely to abort compared to seronegative cows. Abortions associated with N. caninum seropositivity in this study were most frequently observed in the second trimester, and the mean gestational age of the fetuses aborted from seropositive dams was 5.7 months. In conclusions, N. caninum seems to be causing serious economic losses in the dairy industry in Japan. This is the first report on an objective comparison of seroprevalence of dairy and beef cattle with reproductive disorders in Asia.
Two fetuses, terminated after prenatal diagnosis of aneural tube defect, had Meckel syndrome. There have now been three fetuses with this syndrome in a series of 35 terminated because of open lesions of the neural tube. It is suggested that such therapeutically aborted fetuses represent a highly selected group, among which a rare condition like Meckel syndrome will be concentrated. The need for a detailed examination of all terminated fetuses is emphasised, for the identification of such an autosomal recessive condition alters the genetic counselling for a future pregnancy.
The dissemination of equine herpesvirus types 1 (EHV-1) and 4 (EHV-4) among various horse populations in Japan was investigated through the isolation and typing of virus strains from horses with respiratory diseases. Type specific monoclonal antibody pools were used for the typing of isolates. The 42 strains of EHV-1 and 64 strains of EHV-4 were isolated from 4593 nasal swabs and/or blood plasma samples collected from 3326 horses during a period from 1979 to 1990. All the strains of EHV-1 were isolated from racehorses only and during the winter season exclusively, when the epizootic of respiratory diseases occurred among racehorse populations at two Training Centers of the Japan Racing Association. In contrast, the strains of EHV-4 were isolated from horses irrespective of the season, facility, or horse population; foals and yearlings in breeding farms and our institute, rearing horses in rearing farms, and racehorses. Especially, 4 strains of EHV-4 were isolated from plasma samples containing buffy coat cells. We believe this is the first reported case of EHV-4 cell-associated viremia in the world. All 87 strains isolated from aborted fetuses were identified as EHV-1. The results suggest that EHV-1 is responsible for epizootic respiratory diseases in racehorses in the winter and abortion among mares at the late stage of gestation, and that EHV-4 causes respiratory diseases throughout the year among all horse populations.
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