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PurposeTo clarify the associations of the maternal age, history of miscarriage, and embryonic/fetal size at miscarriage with the frequencies and profiles of cytogenetic abnormalities detected in spontaneous early miscarriages.MethodsMiscarriages before 12 weeks of gestation, whose karyotypes were evaluated by G-banding between May 1, 2005, and May 31, 2017, were included in this study. The relationships between their karyotypes and clinical findings were assessed using trend or chi-square/Fisher’s exact tests and multivariate logistic analyses.ResultsThree hundred of 364 miscarriage specimens (82.4%) had abnormal karyotypes. An older maternal age was significantly associated with the frequency of abnormal karyotype (ptrend < 0.001), particularly autosomal non-viable and viable trisomies (ptrend 0.001 and 0.025, respectively). Women with ≥ 2 previous miscarriages had a significantly lower possibility of miscarriages with abnormal karyotype than women with < 2 previous miscarriages (adjusted odds ratio [aOR], 0.48; 95% confidence interval [95% CI], 0.27–0.85). Although viable trisomy was observed more frequently in proportion to the increase in embryonic/fetal size at miscarriage (ptrend < 0.001), non-viable trisomy was observed more frequently in miscarriages with an embryonic/fetal size < 10 mm (aOR, 2.41; 95% CI, 1.27–4.58), but less frequently in miscarriages with an embryonic/fetal size ≥ 20 mm (aOR, 0.01; 95% CI, 0.00–0.07) than in anembryonic miscarriages.ConclusionsThe maternal age, history of miscarriage, and embryonic/fetal size at miscarriage may be independently associated with the frequencies or profiles of cytogenetic abnormalities in early miscarriages.

Porcine circovirus 3 (PCV-3) has been widely detected in healthy and diseased pigs; among different pathologic conditions, the strongest evidence of association comes from reproductive disease cases. However, simple viral detection does not imply the causality of the clinical conditions. Detection of PCV-3 within lesions may provide stronger evidence of causality. Thus, this study aimed to assess the frequency of PCV-3 detection in tissues from fetuses/stillborn piglets in cases of reproductive problems in domestic swine, as well as the histopathologic assessment of fetal tissues. Fetuses or stillborn piglets from 53 cases of reproductive failure were collected and analyzed by PCV-3 qPCR. The presence of porcine reproductive and respiratory syndrome virus (PRRSV), porcine circovirus 2 (PCV-2), and porcine parvovirus 1 (PPV1) was also checked. PCV-3 qPCR positive samples with a high viral load were tested by PCV-3 in situ hybridization (ISH), sequenced, and phylogenetically analyzed. PCV-3 DNA was detected in 18/53 (33.9%) reproductive failure cases and in 16 of them PCV-3 was the only pathogen found. PCV-2 DNA was found in 5/53 (9.4%), PRRSV RNA in 4/53 (7.5%) and PPV1 was not detected. Four out of the six PCV-3 qPCR-positive cases with Ct value <30 were positive when tested by ISH. In these samples, PCV-3 was detected within mild histopathologic lesions, such as arteritis and periarteritis in multiple tissues. The present work emphasizes the need to include PCV-3 as a potential causative agent of reproductive failure in swine.

The only genus of the Francisellaceae family known to contain species pathogenic to mammals is Francisella, for which reported cases in the Southern Hemisphere have been limited to Australia. We describe severe necrotizing and inflammatory lesions and intralesional immunohistochemical identification of Francisella sp. lipopolysaccharide among aborted ovine fetuses in Uruguay.

Background Coxiella burnetii , Chlamydia abortus and Leptospira spp. are difficult to grow bacteria that play a role in bovine abortion, but their diagnosis is hampered by their obligate intracellular lifestyle ( C. burnetii , C. abortus ) or their lability ( Leptospira spp.). Their importance is based on the contagious spread in food-producing animals, but also as zoonotic agents. In Switzerland, first-line routine bacteriological diagnostics in cattle abortions is regulated by national law and includes only basic screening by staining for C. burnetii due to the high costs associated with extended spectrum analysis. The aim of this study was to assess the true occurrence of these zoonotic pathogens in 249 cases of bovine abortion in Switzerland by serology (ELISA for anti- C. burnetii and C. abortus antibodies and microscopic agglutination test for anti- Leptospira spp. antibodies), molecular methods (real-time PCR and sequencing of PCR products of Chlamydiales- positive cases), Stamp’s modification of the Ziehl-Neelsen (mod-ZN) stain and, upon availability of material, by histology and immunohistochemistry (IHC). Results After seroanalysis the prevalence was 15.9% for C. burnetii , 38.5% for C. abortus and 21.4% for Leptospira spp. By real-time PCR 12.1% and 16.9% of the cases were positive for C. burnetii and Chlamydiales , respectively, but only 2.4% were positive for C. burnetii or Chlamydiales by mod-ZN stain. Sequencing of PCR products of Chlamydiales- positive cases revealed C. abortus in 10% of cases and the presence of a mix of Chlamydiales -related bacteria in 5.2% of cases. Pathogenic Leptospira spp. were detected in 5.6% of cases. Inflammatory lesions were present histologically in all available samples which were real-time PCR-positive for Chlamydiales and Leptospira spp. One of 12 real-time PCR-positive cases for C. burnetii was devoid of histological lesions. None of the pathogens could be detected by IHC. Conclusion Molecular detection by real-time PCR complemented by histopathological analysis is recommended to improve definitive diagnosis of bovine abortion cases and determine a more accurate prevalence of these zoonotic pathogens.

Background Neospora caninum is an obligate intracellular protozoan that is well established as a causative agent of abortion in dairy cattle worldwide. Objectives The objective of this study was to determine the role of N. caninum infection in the abortion in dairy cattle in the Khorasan Razavi Province, Iran. Methods From 2022 to 2024, 105 aborted bovine foetuses were collected from dairy cattle in Khorasan Razavi province. Brain samples of aborted foetuses were tested using nested PCR and histopathological examination. In addition, blood samples were collected from dairy cattle that had aborted PCR‐positive foetuses and were analysed using enzyme‐linked immunosorbent assay (ELISA). Results and Conclusions In the present study, N. caninum infection was detected in 24.76% (26 out of 105) of aborted bovine foetuses by nested PCR analysis. The brain tissues of 20 bovine‐aborted foetuses were only suitable for histopathological examination. Lesions of the central nervous system were severe hyperaemia, perivascular cuffing, astrogliosis, mild encephalitis and focal necrosis. One foetus exhibited a 32‐µm N. caninum cyst within the brain tissue. IgG antibodies against N. caninum were identified in all dairy cattle that aborted infected foetuses through ELISA testing. Molecular, histopathological and serological findings strongly suggest that N. caninum plays a significant role in bovine abortion in dairy cattle in Khorasan Razavi Province, northeast Iran. Aborted bovine foetuses were collected from dairy cattle in Khorasan Razavi province. Brain samples of aborted foetuses were tested to detect N.caninum infection using nested PCR and histopathological examination. In addition, blood samples were collected from dairy cattle that had aborted PCR‐positive foetuses and were analysed using ELISA .

Background Autosomal recessive or compound heterozygous mutations in KLHL40 cause nemaline myopathy 8, which is one of the most severe forms of nemaline myopathy. The KLHL40 c.1516A>C variant has recently been reported as a founder mutation in southern Chinese. Methods We report six cases of nemaline myopathy 8 which involves the c.1516A>C variant, from five unrelated families of non‐consanguineous southern Chinese. The pre‐ and postnatal phenotypes of these cases were reviewed with emphasis on prenatal clinical features. Genetic testing for the founder mutation was performed on three patients with homozygous mutations. Results Common prenatal features included reduced fetal movement, polyhydramnios, breech presentation, and clubfeet. Two pregnancies were terminated. Four live‐born patients had postnatal features typical of nemaline myopathy 8. The length of survival ranged from 49 days to 17 months, with respiratory failure and infections being the principal causes of death. Haplotype analysis in three patients with homozygous mutation showed a shared haplotype block of 1.1727 cM spanning over the c.1516A>C variant, suggesting it is a southern Chinese‐specific founder mutation. Conclusion Analysis of the KLHL40 c.1516A>C variant should be considered in prenatal diagnosis of Chinese pregnant patients with suspected congenital neuromuscular disorders or with significant family history of congenital myopathies. We reported six cases from five unrelated families of non‐consanguineous southern Chinese affected by nemaline myopathy 8, with either homozygous variants or compound heterozygous variants involving c.1516A>C in KLHL40. Pre‐ and postnatal phenotypes of the cases were reviewed, with emphasis on the prenatal clinical features.

Background. Parvovirus B19 infection during pregnancy can lead to nonimmune fetal hydrops, miscarriage, and intrauterine fetal death (IUFD). Some studies have suggested that parvovirus B19 infection may surprisingly often result in nonhydropic fetal death during the third trimester, in the absence of maternal serological evidence of acute infection. This study was conducted to investigate the prevalence of parvovirus B19 DNA among fetuses from miscarriages and IUFDs. Methods. We retrospectively studied 535 unborn fetuses, including 120 fetuses from miscarriages and 169 from IUFDs. The control fetuses were 246 fetuses from induced abortions. All fetuses were autopsied from July 1992 through December 1995 and from January 2003 through December 2005 in Helsinki, Finland. The period included a major epidemic of parvovirus B19 infection in 1993. Formalin-fixed, paraffin-embedded fetal tissues were studied with use of a highly sensitive and specific PCR that was capable of detecting all 3 parvovirus B19 genotypes and by histologic examination. In addition, maternal parvovirus B19 serological status was determined. Results. Parvovirus B19 DNA was detected in 5 fetuses with gestational ages of 14, 22, 23, 30, and 39 weeks; these included fetuses from 4 (2.4%) of the 169 IUFDs and 1 (0.8%) of the 120 miscarriages. During the epidemic year 1993, the prevalence of parvovirus B19 DNA–positive fetal deaths was 6 times the prevalence during nonepidemic years. All 5 mothers of the parvovirus B19 DNA–positive fetuses had serological signs of acute parvovirus B19 infection close to the time of fetal death. The only nonhydropic fetus was full-term. Conclusions. Our findings indicate that the prevalence of parvovirus B19 infection among fetuses from IUFDs is low. In particular, our findings did not verify the claimed high prevalence of third-trimester nonhydropic IUFDs associated with parvovirus B19.

Background Pregnancy loss affects 10%–15% of pregnancies and is caused by several factors, maternal and fetal. Most common cause is chromosomal aneuploidy and has traditionally been detected by karyotyping product of conception and/or fetal tissue. In recent years, array comparative genomic hybridization (a‐CGH) has been used because of its higher detection and lower failure rates. Methods DNA was extracted from 1625 products of abortion or fetal tissue. In 1,104 cases both quantitative fluorescent‐polymerase chain reaction (QF‐PCR) and a‐CGH, and in 521 cases only a‐CGH, was performed. Results The detection rate using QF‐PCR and a‐CGH is 20% compared to 12.7%, overall, and 15.7%, excluding failed samples, by karyotypes in our center. QF‐PCR and a‐CGH failed in 1.9% of cases, while the failure rate for karyotypes was 20.1%. The difference of detection and failure rates is significant (p‐value < 0.001 and p‐value < 0.001 respectively). Unexpectedly we also found a significant difference in frequency of imbalances in related versus unrelated couples. (χ2 = 11.4926, p‐value < 0.001). Conclusion It is highly likely that the pregnancy loss in consanguineous couples is caused by other genetic and immune mechanisms. It is plausible that, through the same mechanism by which single gene disorders have a higher prevalence of manifesting disease in consanguineous couples, they can cause lethal genetic disorders leading to pregnancy loss and intra‐uterine fetal death (IUFD) in these couples. Our findings suggest that this is a matter for further study as it will greatly influence the approach to counseling and managing consanguineous couples with pregnancy loss. This study is a review of 1625 product of abortion and fetal tissue using Array comparative genomic hybridization in combination with QF‐PCR. This is the second largest study with the main difference 35 percent of couples are related. We found a statistically significant difference between copy number variations and aneuploidies found in related versus unrelated couples.

Our communication presents a prenatally detected case with severe spinal defect detected in the first trimester of pregnancy, accompanied by a large skin-covered myelomeningocele but normal cranio-cerebral structural appearance.These findings suggest that in the first trimester, the extent of the spinal defect, the cerebrospinal fluid leakage to a large, but skin-covered, meningocele and fixation of the spinal cord at the lesion are not sufficient to determine downward hindbrain displacement and the development of secondary signs for open spina bifida.Therefore, we suggest a careful evaluation of the fetal cerebral features if a meningocele is detected. The presence of the skin covering the lesion may not be evident in the first trimester, but the absence of intracranial open spina bifida markers may indicate a ‘closed’ spinal defect, which generally associates a good neurological outcome. Also, studies aimed to investigate the accuracy of the intracranial features for open spina bifida detection should consider the possibility of ‘closed’ myelomeningoceles to avoid incorrect correlations.

Flotation tests on the lungs and gastrointestinal tract to investigate aeration are classic procedures to examine the life of a newborn after birth; however, there are arguments about the reliability. The present study investigated serial forensic autopsy cases of newborn infants without marked decomposition (n=4) with regard to air/gas distribution in the lungs and gastrointestinal tracts by means of postmortem CT (PM-CT) as well as macromorphology and histology, compared with intrauterine and aborted fetuses (n=3). No gas was detected in the lungs or gastrointestinal tracts in all of three intrauterine fetal deaths. Gas was diffusely detected in the lungs of a newborn fatality attributed to smothering after birth; however, two neonatal fatalities had poor lung gas contents due to marked congestion with edema and diffuse atelectasis. In a case of unsuccessful cardiopulmonary resuscitation following possible birth asphyxia, pulmonary aeration was evidently localized on CT morphology, despite a larger amount of bowel gas, and was also uneven in histology, showing a membranous immunostaining pattern of pulmonary surfactant on the intra-alveolar surfaces of expanded alveoli. The combined use of PM-CT is useful to demonstrate air/gas distributions in the lungs and gastrointestinal tract for interpretation of spontaneous breathing after birth in newborn fatalities.