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Background: Cytogenetic evaluation of products of conception (POC) for chromosomal abnormalities is central to determining the cause of pregnancy loss. We compared the test success rates in various specimen types and the frequencies of chromosomal abnormalities detected by G-banding analysis with those found by Oligo-SNP chromosomal microarray analysis (CMA). We evaluated the benefit of CMA testing in cases of failed culture growth.
Methods: Conventional cytogenetic results of 5457 consecutive POC specimens were reviewed and categorized as placental villi, fetal parts, and unspecified POC tissue. The CMA was performed on 268 cases. Of those, 32 cases had concurrent G-banding results. The remaining 236 cases included 107 cases with culture failure and 129 cases evaluated by CMA alone.
Results: The overall POC culture success rate was 75%, with the lowest for fetal parts (37.4%) and the highest for placental villi (81%). The abnormality rate was 58% for placental villi, but only 25% for fetal parts. Of the abnormalities detected, the most common were aneuploidies, including trisomy 16, triploidy, monosomy X, trisomy 22, trisomy 21 and trisomy 15, while the least encountered aneuploidies were trisomy 1, trisomy 19 and monosomies (except monosomy 21). Overall, POC specimens studied by CMA were successful in 89.6% of cases and yielded a 44.6% abnormality rate.
Conclusions: Placental villi yielded higher rates of culture success and a higher percentage of abnormal karyotypes than did other specimen types. The Oligo-SNP CMA method has demonstrated a viable alternative to the G-banding method in view of its advantages in detection of submicroscopic genomic aberrations, shorter turnaround time due to elimination of time required for culture and a higher test success rate.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4049495 | PMC |
http://dx.doi.org/10.1186/1755-8166-7-33 | DOI Listing |
Ecotoxicol Environ Saf
December 2024
Department of Medical Genetics, Center for Medical Genetics, Peking University, Beijing 100191, China; State Key Laboratory of Female Fertility Promotion, Center for Reproductive Medicine, Department of Obstetrics and Gynecology, Peking University Third Hospital, Center for Medical Genetics, Peking University, Beijing 100191, China; National Clinical Research Center for Obstetrics and Gynecology, Peking University Third Hospital, Beijing 100191, China; Key Laboratory of Assisted Reproduction, Ministry of Education, Beijing 100191, China; Beijing Key Laboratory of Reproductive Endocrinology and Assisted Reproductive Technology, Beijing 100191, China. Electronic address:
Exposure to specific alkali and alkaline earth elements(AEs/AEEs) has been reported that are linked to an increased risk of spontaneous abortion. However, the direct evidence of exposure in the uterus are absent. Therefore, we collected chorionic villi after spontaneous abortion or induced abortion in Peking University Third Hospital.
View Article and Find Full Text PDFPlacenta
December 2024
Health Sciences, Carleton University, Ottawa, ON, K1S 5B6, Canada. Electronic address:
Introduction: Spina bifida (SB) remains one of the most common congenital anomalies and associates with significant comorbidities in the fetus, which may, in part, be driven by placental maldevelopment. We hypothesised that placental pathologies would be more prevalent in fetuses with SB compared to fetuses without congenital anomalies.
Methods: Placental pathology and transcriptome were evaluated for fetuses with isolated open SB born preterm (cases; n = 12) and control fetuses without congenital anomalies (n = 22) born at full term (FT) or preterm (PT).
J Reprod Dev
December 2024
Animal Science and Technology College, Beijing University of Agriculture, Beijing 102206, China.
Insulin-like growth factor 2 (IGF2) is essential for cell growth and differentiation and functions through the IGF2 receptor (IGF2R) to regulate embryonic and placental development. Exosomes that are synthesized and released from cells and play important roles in embryogenesis and placental development rely on the IGF2R for sorting and transport. However, the role of the imprinted Igf2-Igr2r axis and exosomes in the co-regulation of early placental development remains unknown.
View Article and Find Full Text PDFPlacenta
November 2024
Department of Gynecology and Obstetrics, University Medical Center Groningen, University of Groningen, 9713 GZ, Groningen, the Netherlands.
Introduction: Early onset fetal growth restriction is a common pregnancy complication with significant risk of perinatal mortality and morbidity. The most common etiology is placental insufficiency, reflected by several placental lesions that appear with fetal growth restriction. Placental immune cells are involved in almost all aspects of the development of the placenta and immune cell imbalances have been related to common pregnancy complications.
View Article and Find Full Text PDFFront Endocrinol (Lausanne)
December 2024
Cell Biology Laboratory, Institute of Biological and Health Sciences, Federal University of Alagoas, Maceio, Brazil.
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