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Background: The present study aimed to explore the etiological relationship between miscarriage and stillbirth and copy number variations (CNVs), as well as provide useful genetic guidance for high-risk pregnancy.
Methods: In total, 659 fetal samples were recruited and subjected to DNA extraction and CNV sequencing (CNV-seq), relevant medical records were collected.
Results: There were 322 cases (48.86%) with chromosomal abnormalities, including 230 with numerical abnormalities and 92 with structural abnormalities. Chromosomal monosomy variations mainly occurred on sex chromosomes and trisomy variations mainly occurred on chromosomes 16, 22, 21, 18, 13 and 15. In total, 41 pathogenic CNVs (23 microdeletions and 18 microduplications) were detected in 27 fetal tissues. The rates of numerical chromosomal abnormalities were 29.30% (109/372), 32.39% (57/176) and 57.66% (64/111) in < 30-year-old, 30-34-year-old and ≥ 35-year-old age pregnant women, respectively, and increased with an increasing age (p < 0.001). There was statistically significant difference (χ = 7.595, p = 0.022) in the rates of structural chromosomal abnormalities in these groups (13.71%, 18.75% and 7.21%, respectively). The rates of numerical chromosomal abnormalities were 45.44% (219/482), 7.80% (11/141) and 0% (0/36) in the ≤ 13 gestational weeks, 14-27 weeks and ≥ 28 weeks groups, respectively, and decreased with respect to the increasing gestational age of the fetuses (p < 0.001).
Conclusions: The present study has obtained useful and accurate genetic etiology information that will provide useful genetic guidance for high-risk pregnancies.
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http://dx.doi.org/10.1002/jgm.3383 | DOI Listing |
Orphanet J Rare Dis
December 2024
The Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, 399 Wanyuan Road, Minhang District, Shanghai, 201102, China.
Mitochondrial transcription factor A (TFAM) deficiency may cause mtDNA depletion syndrome, which manifests as neonatal liver failure or primary ovarian insufficiency, hearing loss, seizures, and intellectual disability. Treatment focusing on symptomatic management, and the clinical prognosis remains poor. Here, we describe a novel case of TFAM mutation presenting with progressive neonatal cholestasis, hypoglycemia and abnormal amino acid profiling.
View Article and Find Full Text PDFBMC Med Genomics
December 2024
Department of Pediatrics, Sichuan Provincial Woman's and Children's Hospital, The Affiliated Women's and Children's Hospital of Chengdu Medical College, Chengdu, China.
Background: Pure partial trisomy 16q12.1q22.1 is a rare chromosome copy number variant (CNV).
View Article and Find Full Text PDFBMC Musculoskelet Disord
December 2024
Department of Orthopedic Surgery, Akita University Graduate School of Medicine, 1-1-1 Hondo, Akita, 010-8543, Japan.
Background: Achondroplasia, the most common form of rhizomelic dwarfism, occurs in approximately 1 in 25,000 individuals. Clinical features include attenuated growth, rhizomelic limb shortening, and craniofacial abnormalities. Limb-lengthening surgery is widely employed to improve quality of life.
View Article and Find Full Text PDFMol Pain
December 2024
Central Laboratory of The Sixth Affiliated Hospital of Wenzhou Medical University, Lishui People's Hospital, Lishui City, Zhejiang, China.
Background And Objective: Mitochondria are important organelles functioning in metabolic processes, inflammatory response and neurological disorders. Migraines are chronic and paroxysmal neurological disorders characterized by recurrent episodes of severe headache and other neurological symptoms. We explored whether mitochondria may be genetically and/or causally associated with migraine.
View Article and Find Full Text PDFJ Vet Intern Med
December 2024
Animal Sciences, Oregon State University, Corvallis, Oregon, USA.
Background: The relationship between radiographic disc calcification score and FGF4L2 genotype has been reported in only a small number of dachshunds.
Hypothesis: A genotype with either 0 or 1 FGF4L2 copy will be associated with a lower number of calcified discs (lower K-n) compared with a genotype with 2 FGF4L2 copies.
Animals: Dachshunds registered with the Norwegian or Finnish Kennel Clubs for which both K-n and FGF4L2 genotype are known (n = 407).
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