Canine congenital malformations are structural or functional abnormalities of organs present at birth that possibly interfere with the viability of newborns, thus contributing to neonatal mortality. This study evaluated and described the incidence of congenital malformations in neonatal dogs and determined the mortality rates among those affected. Of the 178 litters and 803 newborns included in the study, 24.7% (44/178) of the litters presented neonates with congenital malformations. The total rate of neonates that presented malformations was 6.7% (64/803). The total mortality rate in newborns with congenital defects was 5.4% (44/803), representing 68.7% (44/64) of the deaths observed among those affected. The early (0-2 days old) and late (3-30 days old) mortality rates among the affected neonates were 61.4% (27/44) and 38.6% (17/44), respectively. In total, 27 malformations were recorded, and the most common congenital defects were cleft palate 2.8% (23/803) and hydrocephaly 1.5% (12/803), either alone or associated with other malformations. The malformations were recorded in 15 breeds: Pug, Miniature Pinscher, Rottweiler, Pitbull, French Bulldog, English Bulldog, Dachshund, Labrador Retriever, Lhasa Apso, Poodle, German Spitz, Yorkshire Terrier, Shih-tzu, Brazilian Terrier and mixed breed. One case of exposure to a teratogenic agent was reported, but no maternal exposure to teratogens during gestation was reported with the other litters. The occurrence of congenital defects may be related to genetic factors since the highest incidence of malformations (84.4%) was observed in purebred dogs.
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http://dx.doi.org/10.1016/j.theriogenology.2019.07.027 | DOI Listing |
Clin Epigenetics
January 2025
Faculty of Medicine of TUD Dresden University of Technology, Institute for Clinical Genetics, University Hospital Carl Gustav Carus at TUD Dresden University of Technology, Dresden, Germany.
Autosomal dominant CDK13-related disease is characterized by congenital heart defects, dysmorphic facial features, and intellectual developmental disorder (CHDFIDD). Heterozygous pathogenic variants, particularly missense variants in the kinase domain, have previously been described as disease causing. Using the determination of a methylation pattern and comparison with an established episignature, we reveal the first hypomorphic variant in the kinase domain of CDK13, leading to a never before described autosomal recessive form of CHDFIDD in a boy with characteristic features.
View Article and Find Full Text PDFJ Cyst Fibros
January 2025
The Lundquist Institute, Harbor-UCLA Medical Center, Torrance 90502 CA, USA. Electronic address:
Background: Cystic Fibrosis-related Bone Disease is an emerging challenge faced by 50 % of adult people with cystic fibrosis (CF). The multifactorial causes of this comorbidity remain elusive. However, congenital bone defects have been observed in animal models with CFTR mutations, suggesting its importance.
View Article and Find Full Text PDFAbsolute uterine factor infertility is conditioned by the congenital or acquired absence of the uterus or the presence of a nonfunctioning uterus in women who wish to become biological mothers. Uterine transplantation along with assisted reproductive techniques can provide this option for women without a uterus. In the early research period, to minimize the risk of preterm birth and other pregnancy-related complications, the uterus of a donor with a history of one to three successfully completed pregnancies was recommended for transplantation.
View Article and Find Full Text PDFBackground: Vaginal atresia (VA) is a rare female genital tract malformation characterized by the absence or incomplete development of the vagina, often leading to cyclic abdominal pain and menstrual blood retention in adolescent patients. Vaginal atresia is often accompanied by multiple organ malformations. The condition poses significant challenges in diagnosis and management, requiring a multidisciplinary approach.
View Article and Find Full Text PDFJ Matern Fetal Neonatal Med
December 2025
Upstate University Hospital, Syracuse, NY, USA.
The incidence for congenital heart block is estimated as high as 1 in 15,000 live births. Up to 90% of cases of congenital heart block, in which there is no anatomical abnormalities, are attributed to maternal systemic lupus erythematous or Sjögren's disease. 50% of these mothers are asymptomatic at time of diagnosis.
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