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PubMed1992

The importance of prenatal period to the new-borns population quality.

Approximately 60% of all human pregnancies terminate spontaneously before birth, mostly before being recognized. Exceptionally high prevalence of abnormalities has been found in this reproduction output. Original frequency of chromosomal (ChA) and developmental anomalies (DA) is not known, but may be very high. From 100 spontaneously aborted fetuses about 50 are ChA, approximately 70 are DA and only about 20 are without any pathological finding. Using data on ChA and DA distribution in newborns and those in abortuses--together with the knowledge on abortion rates in various gestation phases--the prenatal population structure may be reconstructed: in the pregnancy recognition phase about 7% ChA and 10-15% DA conceptuses remain in the population of surviving fetuses. Prenatal selection decreases gradually the frequency of anomalies to the values that are usually found in new-borns. The disappearance of particular anomalies is nonrandom, changing the malformation spectrum continually. The risk of prenatal elimination of the anomaly is not invariably proportional to the degree of phenotype damage of the fetus. Study of the hidden part of prenatal population offers the possibility to cover a considerably larger fraction of the whole reproduction output and supplies new valuable knowledge.

Abortion, Spontaneous↗
PubMed1998

Comparison of prenatal ultrasound and postmortem findings in fetuses and infants with central nervous system anomalies.

Detection of fetal developmental abnormalities by ultrasound examination of pregnant women has become a specialized field of medicine. Quality control of this field requires detailed examination of aborted fetuses. In 408 fetuses and infants with developmental anomalies, the prenatal ultrasound findings were compared with the post-mortem findings. This study focused on 140 central nervous system (CNS) anomalies. Criteria for inclusion were an ultrasound examination at the National Center for Fetal Medicine (NCFM) and an autopsy performed during the period 1985-94. Results of the ultrasound and autopsy examinations were systematized into six different categories. Hydrocephaly and anencephaly were the most frequent abnormalities, together accounting for 50% of the CNS anomalies. In 20 cases (14%), the CNS anomalies were associated with other important anomalies or chromosomal aberrations. In 125 of the cases (89%), there was complete concordance between the ultrasound and autopsy diagnoses. Of the 15 CNS cases with discrepancies, seven had nearly complete concordance; if we include these, the correlation was 94%. In conclusion, this study confirms that developmental anomalies in the central nervous system are frequent and that ultrasound diagnoses are in good concordance with the autopsy diagnoses.

Adolescent↗
PubMed2004

Multi-lineage interrogation of the performance characteristics of a split-signal fluorescence in situ hybridization probe for anaplastic lymphoma kinase gene rearrangements: a study of 101 cases characterized by immunohistomorphology on fixed archival tissue.

BACKGROUND: Fluorescence in situ hybridization (FISH) can identify chromosomal translocations on fixed archival tissue, but studies cross-validating the utility of FISH on lesions of different cell lineages that harbor similar translocations (e.g. those involving anaplastic lymphoma kinase [ALK]) have not been published. AIM: Our objective was to define the diagnostic utility, performance characteristics, and limitations of a commercially available, split-signal, FISH probe for ALK gene rearrangements on fixed, archived tissue from lesions of diverse cell lineage. STUDY DESIGN: The sensitivity, specificity, and positive and negative predictive values of the Vysis ALK FISH probe were compared with those of the ALK-1 antibody (Dako) in a series of 101 cases, comprising 43 hematolymphoid neoplasms, 4 reactive lymphoid controls, 50 non-hematolymphoid (including neuroectodermal, epithelial, myofibroblastic, and germ cell) lesions, and 4 early-trimester aborted fetuses that served as neuroblastic controls. METHODS: The study involved a predominantly (72%) Singaporean Chinese population aged between 9 months and 88 years (excluding the aborted fetal controls). All cases were reviewed both histologically and immunohistochemically with a wide panel of antibodies using the standard protocols in order to diagnose them according to the latest WHO classification systems. A positive cut-off value was determined, both by comparison with diagnostic categories with and without ALK translocations, as well as with negative controls. RESULTS: The ALK FISH probe suffered a 33% non-informative rate, but in informative cases it showed 94% concordance with the ALK-1 immunostain. A minimum cut-off value of 5 in 200 informative cells was adopted to make a positive call in each case. Of the ALK-1 immunoreactive lesions, nine lymphomas were concordantly ALK translocation-positive but one vesical inflammatory myofibroblastic tumor was discordantly FISH-negative. Among the ALK-1-immunonegative lesions, one case each of anaplastic lymphoma and pulmonary mycobacterial spindle cell pseudotumor were discordantly ALK FISH-positive, while a case each of intestinal myeloblastic tumor and ganglioglioma showed initial--but not reproducible--positive FISH readings. The remaining cases were concordantly negative. DISCUSSION: The discrepancies between ALK FISH results and well-established immunomorphological parameters indicate that interpretation is not always straightforward. Notably, the derivation of threshold cut-off values for positive calls on FISH assays has seldom been addressed in the literature, and has raised issues in interpreting cases with borderline positivity in this study. The factors that may influence such cut-off values are extensively reviewed. CONCLUSIONS: We propose the term 'conditional threshold positivity' to encourage the adoption of different cut-off values for making positive calls in lesions of different origin.

Adolescent↗
PubMed1989

Induction of twinning in crossbred heifers by ipsilateral frozen embryo transfer.

Induction of twinning by means of nonsurgical ipsilateral transfer of two frozen embryos or of demi-embryos was attempted in 297 virgin crossbred dairy heifers that were kept at the following locations: in stables at our breeding station (Group 1), in a mountain field (Group 2) and at a private farm (Group 3). Of these, 187 heifers (63%) were diagnosed pregnant at 25 d after embryo transfer and 134 heifers (45%) were diagnosed pregnant at 60 d after transfer by ultrasonic echography or by palpation per rectum. At calving, 118 heifers produced 46 sets of twins and 72 single calves, for a total of 164 calves sixteen pregnant heifers aborted fetuses between 2 and 7 mo. The pregnancy rate of Group 1 (39%) was lower than that of Group 2 (48%) or Group 3 (50%). Abortion and mortality rates for Group 3 (8% and 8%, respectively) were significantly lower (P<0.05) than for Group 1 (16% and 12%) or Group 2 (13% and 18%). Twin calves had lower birth weights (P<0.05) than singles, but at 270 to 330 d of age, there was no significant difference between the weights of single and twin calves. Dystocia or difficult delivery was not observed heifers producing twins. Retention of the placenta was observed in twin calving heifers, with placenta retention levels the highest in Group 2 (33%) than followed by Group 1 (14%) and Group 3 (10%). When gestation periods were compared between single and twin calves in Groups 1 and 2, the gestation period of single calves was 5.0 to 7.0 d shorter than that of twin calves. No significant difference was observed between the gestation periods of single and twin births in Group 3.

Journal Article↗
PubMed2004

Caprine herpesvirus- 1 abortion storm in a goat herd in Quebec.

Numerous abortions were reported on a Quebec goat farm, and caprine herpesvirus-1 (CapHV-1) was confirmed by PCR in several tissues from 3 aborted fetuses. This is the first report of CapHV-1 in Canada. Practitioners and diagnosticians must consider this disease when making a differential diagnosis for caprine abortion.

Abortion, Veterinary↗
PubMed1978

Kinetics of the complement fixing and immunofluorescent antibody response in experimental chlamydiosis in ewes.

Normal, 70 days pregnant ewes were inoculated i.v. with a chicken embryo grown Chlamydia psittaci strain. The ewes presented a biphasic febrile curve and aborted 30 to 68 days after inoculation. Chlamydiae were isolated from aborted fetuses and from vaginal swabs. Ewes developed CF and IF antibodies titrating 1:320 to 1:1024 two to three weeks after inoculation. A second antibody rise occurred one to two weeks before or after abortion and reached titers of 1:640 to 1:1024. Immunoglobulin fractions from the serum of the ewes were also tested by CF and IF. IgG antibodies were detected by both methods and the trend of their kinetics was similar to that of whole serum. IgM antibodies were present in very low titers in the immunoglobulin fractions of some of the animals. CF and IF were equally sensitive in detecting anti-Chlamydia antibodies in whole serum or immunoglobulin fractions.

Abortion, Veterinary↗
PubMed1980

Citrullinaemia: the possibility of prenatal diagnosis.

Argininosuccinate synthetase activity in amniotic fluid cells from a fetus at risk for citrullinaemia was low compared to the activity in amniotic fluid cells from a normal fetus, but five times the activity in fibroblasts from a patient with citrullinaemia. These enzyme values indicated indicated a normal or heterozygous fetus. Chromosome analysis of the amniotic fluid cells from the fetus at risk, however, showed an unusual X/20 translocation. As we could not guarantee the delivery of a normal child, the parents chose to have a therapeutic abortion. Argininosuccinate synthetase activity in the liver and kidney of the aborted fetus was in the normal and heterozygous range respectively, confirming the prenatal diagnosis. The activity in the father's fibroblasts was low, less than 10% of normal. The difficulty of interpreting the results of prenatal diagnosis in such a family and the importance of studying parental cells are discussed.

Abortion, Therapeutic↗
PubMed1980

Caprine bluetongue virus isolations.

Viral isolation procedures demonstrated the presence of bluetongue virus serotypes 10, 11, and 17 in routine caprine accessions. The goats in this report showed one or more of the following signs or lesions: weakness, pulmonary disease, abortion, fetuses with developmental abnormalities, keratoconjunctivitis, anemia, and swollen joints.

Abortion, Veterinary↗
PubMedDate not supplied

Isolation of Chlamydia psittaci involved in abortion of goats in Mexico: first report.

A group of 35 healthy adult goats ranging from two to six years old were bought from a chlamydiosis and brucellosis-free flock; they were vaccinated against Brucella melitensis with Rev1 vaccine at reduced doses, and one month later placed in isolation units. The animals were one month pregnant at the moment of purchase, and during the third month of pregnancy 10 out of the 35 dams aborted. Necropsy of the aborted fetus and examination of the foetal membranes was performed where no macroscopic lesions were observed. Abomasal liquid, foetal lung and liver, and placenta samples were taken for bacteriological analysis while sera from the goats that aborted was collected for serological investigation. Chlamydia psittaci was isolated in all cases, while no Brucella was detected. All sera reacted positive to anti-Chlamydia antibodies by the indirect immunofluorescence test. This represents the first report of Chlamydia psittaci isolation from cases of goat abortion in Mexico.

Abortion, Veterinary↗
PubMed1999

Teratogen update: radiation and Chernobyl.

The 1986 nuclear reactor accident at Chernobyl caused nonuniform radiocontamination of air and land, primarily within regions of the former Soviet Union and Western Europe. Major exposure groups included the reactor workers, villagers evacuated from within 30 km of the accident, the "liquidators" who decontaminated the evacuation zone afterward, those in radiocontaminated villages not evacuated, and "others" not in the latter categories. The possibility of being exposed to radiation caused considerable anxiety, especially among pregnant women. Were teratogenic levels of radiation (> or = 0.1 Gy) exposure attained? To date there is no consistent proof that this level of radiation exposure was received. Nevertheless, thousands of induced abortions were performed. Radioiodine (I-131) caused thyroid cancer in young children in portions of Belarus, the Ukraine, and Russia. It is not known but very possible that I-131 fetal thyroid exposure contributed to this observation. The relationship between mental retardation and radiation exposure has not been confirmed. Leukemia and other cancers, while predicted for the liquidators (mainly males), has not been found in the other exposure groups at this time. Investigations of aborted fetuses and newborns in Belarus showed an increase in the frequency of both congenital and fetal abnormalities in high and low Cs-137 contaminated regions. This study is unreliable due to detection and selection biases. Accident and environmental factors unrelated to radiation doses may have contributed to these observations. Occasional positive teratogenic studies in less contaminated regions of Western Europe are suspect because of the low radiation doses received. There is no substantive proof regarding radiation-induced teratogenic effects from the Chernobyl accident.

Abortion, Induced↗
PubMed1987

Pathological confirmation of cystic fibrosis in the fetus following prenatal diagnosis.

Prenatal diagnosis of cystic fibrosis is presently based on the determination of microvillar enzyme activities in the amniotic fluid. However, there seems to be no accurate means for confirming the diagnosis of the aborted fetus. During the past year we performed pathological and histopathological examinations on 7 fetuses diagnosed in the second trimester of pregnancy to be affected by cystic fibrosis and compared them with 4 control age-matched fetuses. Glycol-methacrylate-embedded 2-3-mu thick sections of the pancreas, lungs, bronchial tree, and GI tract were stained with toluidine blue, H&E, PAS, and AB-PAS, and examined microscopically. In the controls, PAS-positive granules were dispersed throughout the cytoplasm of most pancreatic acinar and tracheal submucosal glandular cells. In the affected fetuses 2 distinct groups were identified. In one group of 4 fetuses, the pancreatic and tracheal submucosal glands were dilated and contained a weak PAS-positive material. The glandular epithelial cells had very little PAS-positive granules. In this group, the tracheal epithelium was either atrophic or metaplastic and devoid of microvilli. In the second group of 3 fetuses there was less dilation of the glands, and both pancreatic acinar cells and tracheal submucosal glandular epithelial cells contained few PAS-positive granules, which were confined mainly to a perinuclear location. The tracheal epithelial cells contained few microvilli which, when present, appeared thicker and shorter as compared to controls. We feel that histochemical evaluation of pancreatic and bronchial tissue may be of help in the pathological confirmation of cystic fibrosis in human fetuses where the results of the biochemical studies are suggestive of the disease.

Cystic Fibrosis↗
PubMed2001

Molecular prenatal diagnosis in families with fetal mitochondrial trifunctional protein mutations.

OBJECTIVES: To evaluate the feasibility of molecular prenatal diagnosis in families with mitochondrial trifunctional protein (TFP) mutations and prospectively study the effects of fetal genotype on pregnancy outcome. TFP catalyzes the last 3 steps in mitochondrial long-chain fatty acid oxidation. STUDY DESIGN: We performed molecular prenatal diagnosis in 9 pregnancies, 8 in 6 families with isolated long-chain 3-hydroxyacyl-coenzyme A dehydrogenase (LCHAD) deficiency and one in a family with complete TFP deficiency. Analyses were performed on chorionic villous samples in 7 pregnancies and on amniocytes in 2. RESULTS: Molecular prenatal diagnosis successfully identified the fetal genotype in all 9 pregnancies. Two fetuses were affected, and both pregnancies were terminated by family decision. Two other fetuses had normal genotype and 5 others were heterozygotes. These 7 pregnancies were uncomplicated, and all the offspring are alive and apparently healthy. Genotypes of the aborted fetuses and neonates were confirmed by molecular analysis and enzymatic assays. CONCLUSIONS: Molecular prenatal diagnosis is possible and valid in guiding management of pregnancies in families with known TFP defects. Women heterozygous for TFP alpha-subunit mutations who carry fetuses with wild-type or heterozygous genotypes have uncomplicated pregnancies.

Amniocentesis↗
PubMed1986

Experimental infection of pregnant ewes with Listeria monocytogenes.

Eight 18-month-old ewes were infected orally with Listeria monocytogenes between 77 and 91 days of pregnancy. Only one ewe aborted, 10 days after the first infecting dose, at 94 days of gestation; L monocytogenes was isolated from several sites in both its aborted fetuses. Two days after the first infecting dose all the ewes exhibited mild illness and pyrexia lasting for two to three days but the ewe which aborted was seriously ill until nine to 10 days after aborting. Agglutination tests carried out on 2-mercaptoethanol reduced sera revealed a strong immunological response in all the infected ewes but in the ewe which aborted this response was delayed. Four uninfected ewes which were kept as controls remained healthy throughout the experiment and showed no evidence of 2-mercaptoethanol resistant antibodies to L monocytogenes. Growth retardation lines, occurring at the time of and after experimental infection, were found in the bones of 14 of 17 newborn lambs in both the infected and control groups; in the aborted lambs these lines occurred before the infection.

Abortion, Veterinary↗
PubMed1977

[Epizootologic study of aspergillosis abortions in cows].

Studied were mycologically a total of 463 aborted fetuses from 32 farms in the district of Roussé in 1972-1974. The pathogenic Aspergillus fumigatus fungus was established in 16.19 per cent of the cases. Abortions occurred the year round, becoming more frequent on the hot and wet days in summer and autumn as well as at in-door rearing and inappropriate hygiene conditions in winter. Most frequently abortions set in between the third and seventh month of pregnancy, which should be taken into consideration in diagnosing the disease.

Abortion, Veterinary↗
PubMed1995

[Prenatal diagnosis of thanatophoric dysplasia at the 20th week of pregnancy using ultrasonography].

We report on prenatal diagnosis of a fetus with thanatophoric dysplasia type 1 at 20 weeks gestation. The ultrasonographic examination showed shortened bowed limbs, narrow chest, relatively large head, protuberant abdomen, and hydramnios. Radiological and histological studies confirmed the aborted fetus had thanatophoric dysplasia. The differential prenatal diagnosis with other skeletal dysplasia is discussed.

Abortion, Therapeutic↗
PubMed1989

Natural causes of death in non-suckling grey seals (Halichoerus grypus).

Thirty-four grey seals which died of natural causes were examined. They ranged in age from aborted fetuses to adults, but suckling pups were excluded from the study. The commonest primary cause of death was pneumonia and a variety of parasitoses occurred as secondary lesions.

Abortion, Veterinary↗
PubMed1994

Upper face morphology of second-trimester fetuses.

The characteristics of the ear auricle and the palpebral fissures are prominent aspects of upper face morphology in second-trimester human fetuses. We report on the ear auricle morphology of 106 normal second-trimester abortuses and on the palpebral fissure characteristics of 88 similar abortuses. All the aborted fetuses had detailed autopsy to define normality of external and internal morphology. Our data will permit selection of criteria for defining upper face dysmorphism in second-trimester formalin-preserved human fetuses. Recognition of such dysmorphism at autopsies could provide useful insight into abnormal human development in response to various genetic and environmental factors.

Ear↗