A cytogenetic study of 1000 spontaneous abortions

Hassold, Terry; Chen, N.; Funkhouser, J.; Jooss, Tina; Manuel, Barry M.; Matsuura, Janice; Matsuyama, A.; Wilson, Carola C.; Yamane, Junko; Jacobs, Patricia A.

doi:10.1111/j.1469-1809.1980.tb00955.x

Cited by 639 publications

(345 citation statements)

References 15 publications

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“…The risk of chromosomal abnormalities in spontaneous pregnancy loss is approximately 50 % in the general population based upon original work in 1980 [6]. In couples undergoing assisted reproductive technologies (ART) the risk of spontaneous abortion and karyotypic abnormalities are less clearly identified.…”

Section: Introductionmentioning

confidence: 99%

Characteristics of chromosomal abnormalities diagnosed after spontaneous abortions in an infertile population

Werner

Reh

Grifo

et al. 2012

J Assist Reprod Genet

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Purpose To estimate the prevalence of chromosomally abnormal related miscarriages in an infertile population. Methods Retrospective analysis of cytogenetics obtained by chorionic villi harvesting of the first miscarriage cycle of infertile patients at our center from 2001-2010 were reviewed. Abnormal results were characterized as trisomy, monosomy X, structural, or other. Age, # of eggs, #2PN, # embryos transferred, day of transfer, and performance of intracytoplasmic sperm injection (ICSI) were recorded. Results In a study population of 299 patients with a mean age of 38.0±4.5 y, 276(92 %) patients had some form of assisted reproductive technologies (ART), and 244(82 %) had IVF. Of all results, 71.6 % had an abnormal karyotype. Patients with abnormal cytogenetics were older (38.6±4.1 vs. 36.3± 4.9, p<0.001), and more likely to have a day 3 transfer (age <38(20.7 %) vs. age 38 (46.3 %), p0<0.001) with more embryos transferred (3.0±1.2, vs. 2.3±0.9, p<0.001). The performance of ICSI did not affect the rate of cytogenetically abnormal products of conception (ICSI 68.3 % vs. no ICSI 70.7 %). In comparing patients, monosomy X was more common in <38 y. Rates of trisomy, although not statistically significant, were higher in older patients. Conclusions The classic associations between advancing age and chromosomal abnormalities, and younger age and monosomy X, are affirmed in our infertile population. There was no increase in chromosomal abnormalities in cycles where ICSI was performed. Older patients are more likely to have day 3 transfers and more embryos transferred. Our chromosomal abnormality rates are higher than classic estimates but comparable to recent studies. The limitation of this study was a lack in uniformity among practitioners in recommending all patients have a Dilation and Curettage (D&C) at time of diagnosis. Such information may serve to improve the counseling of patients after miscarriage.

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Section: Introductionmentioning

confidence: 99%

Characteristics of chromosomal abnormalities diagnosed after spontaneous abortions in an infertile population

Werner

Reh

Grifo

et al. 2012

J Assist Reprod Genet

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“…It is well established that approximately 50% of first-trimester SA is chromosomally abnormal. 6,8,10,30 Chromosome analysis is the current gold standard for detection of chromosome aberrations; however, approximately 20% of POC samples fail to yield a chromosome result due to culture failure, often attributable to microbial contamination or nonviable tissue.…”

Section: Overviewmentioning

confidence: 99%

Reflex fluorescent in situ hybridization testing for unsuccessful product of conception cultures: A retrospective analysis of 5555 samples attempted by conventional cytogenetics and fluorescent in situ hybridization

Shearer

Thorland

Carlson

et al. 2011

Genetics in Medicine

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Introduction:The use of chromosome analysis on products of conception from spontaneous abortions is recommended to identify a genetic etiology. However, 20% of products of conception cultures are unsuccessful due to microbial contamination or lack of viable dividing cells. Our laboratory implemented a reflex fluorescent in situ hybridization (FISH) assay to detect numeric chromosome abnormalities for unsuccessful cultures. Materials and Methods: All products of conception samples were simultaneously processed for both chromosome analysis and FISH analysis. If the chromosome analysis was unsuccessful, interphase FISH was performed for chromosomes 13,16,18,21,22, X, and Y. To assess the performance of the FISH assay, a 3-year retrospective comparative analysis of the FISH results versus chromosome results was performed. Results: Of 5555 total specimens, 4189 (75%) represented chorionic villi/fetal tissue and 1366 (25%) represented tissue of unidentified origin. Of the 1189 tissues of unidentified origin with chromosome or FISH results, 1096 (92%) were XX, indicating that the majority of these tissues are likely maternal in origin. Of the 3361 successful chromosome studies on the chorionic villi/fetal tissue specimens, 1734 (52%) samples had a chromosome abnormality. Of the 762 successful FISH studies on chorionic villi/fetal tissue specimens that were unsuccessful by chromosome studies, 181 (25%) had an abnormal result with the targeted FISH panel. Overall, the FISH panel detected approximately 70% of the chromosome abnormalities in products of conception detectable by karyotype. When the FISH panel results were combined with chromosome analysis for the 4189 chorionic villi/fetal tissue specimens, the overall abnormality rate is 47%. Conclusions: Our reflex FISH assay proved useful for the detection of common chromosome aneuploidies in products of conception samples that failed conventional chromosome analysis. Because of its limited view of the genome, cautious interpretation of FISH results is required for all samples, in particular, trisomy of an acrocentric chromosome, which may represent a Robertsonian translocation. An algorithmic approach to the genetic evaluation of products of conception specimens, with the potential for initial evaluation by a FISH panel, may be warranted. Genet Med 2011:13(6):545-552.

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“…In addition, it has been demonstrated that the increasing aneuploidy rates in human oocytes and embryos are observed relative to advanced maternal age [5]. Women over 38 years old had poor IVF outcomes, especially in women over 40 years old [6].…”

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confidence: 99%

Effect of maternal age on the outcomes of in vitro fertilization and embryo transfer (IVF-ET)

Yan

Tang

et al. 2012

Sci. China Life Sci.

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This is a retrospective, observational study to evaluate the effect of maternal age on the outcomes of in vitro fertilization and embryo transfer (IVF-ET). 11830 IVF-ET cycles from 10268 women were included. Four groups of different maternal age periods were compared. The groups were 2130 years old group (4549 cycles), 31-35 years old group (4424 cycles), 36-40 years old group (2429 cycles), and over 40 years old group (428 cycles). The mean starting dose of Gn and mean total dose of Gn in each cycle were significantly higher (P<0.01), while the mean retrieved oocyte number was significantly lower (P<0.01) in groups of higher maternal age period than those in each of the lower groups. The biochemical pregnancy rate and the clinical pregnancy rate were significantly lower (P<0.01), while the miscarriage rate was significantly higher (P<0.01) in groups of higher maternal age period than those in the lower groups. No difference was found in two-pronuclear zygotes (2PN) rate and good quality embryo rate among different groups. Birth defect rate was also comparable in the born babies in different groups. In the group with patients' age over 40 years old, the pregnancy rate was 26.87%, the clinical pregnancy rate was 19.39%, while the miscarriage rate after clinical pregnancy was 36.14%. To draw the conclusion, patients with higher maternal age had worse IVF outcomes. In women of fertile age, patients between 20 and 30 years old have the best IVF outcomes. Patients over 40 years old have poor IVF outcome and high miscarriage rate, which suggested the necessity of preimplantation genetic screening (PGS).in vitro fertilization, outcome, pregnancy rate, miscarriage rate, birth defect, maternal age Citation:Yan J H, Wu K L, Tang R, et al. Effect of maternal age on the outcomes of in vitro fertilization and embryo transfer (IVF-ET). Sci China Life Sci, 2012, 55: 694 -698,

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A cytogenetic study of 1000 spontaneous abortions

Cited by 639 publications

References 15 publications

Characteristics of chromosomal abnormalities diagnosed after spontaneous abortions in an infertile population

Characteristics of chromosomal abnormalities diagnosed after spontaneous abortions in an infertile population

Reflex fluorescent in situ hybridization testing for unsuccessful product of conception cultures: A retrospective analysis of 5555 samples attempted by conventional cytogenetics and fluorescent in situ hybridization

Effect of maternal age on the outcomes of in vitro fertilization and embryo transfer (IVF-ET)

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