Chromosome abnormalities identified in 347 spontaneous abortions collected in Japan

Nagaishi, Masaji; Yamamoto, Tatsuo; Iinuma, Kazuso; Shimomura, Katsunori; Berend, Sue Ann; Knops, Judith F.

doi:10.1111/j.1447-0756.2004.00191.x

Cited by 100 publications

(86 citation statements)

References 9 publications

(7 reference statements)

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“…The spontaneous miscarriage rate is only 3 % in women younger than 30 years old but as high as 29 % in women older than 40 years old [8], and the incidence of chromosomal abnormalities increases from 48 to 65 to 92 % over the same age range [9,10].…”

Section: Advanced Maternal Age (Ma) Is Associated With An Increasedmentioning

confidence: 99%

Correlation analysis between ultrasound findings and abnormal karyotypes in the embryos from early pregnancy loss after in vitro fertilization-embryo transfer

Ouyang

et al. 2016

J Assist Reprod Genet

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Purpose The purpose of the study is to evaluate the correlation between ultrasound findings and abnormal karyotypes in early pregnancy losses (EPLs) after in vitro fertilizationembryo transfer (IVF-ET). Methods This retrospective analysis assessed 2172 cases of EPL after IVF-ET occurring between January 2008 and December 2013. The cases were examined via transvaginal ultrasonography (TVS). Embryonic tissue karyotyping following miscarriage was performed using a comparative genomic hybridization (CGH) analysis with fluorescence in situ hybridization (FISH). The correlations between the ultrasound findings and the karyotypes were evaluated. Results Six categories of ultrasound findings were observed: normal ultrasound, empty sac, yolk sac only, small gestational sac, small embryonic pole, and early symmetrical arrested growth. The overall rate of abnormal karyotypes was 44.9 % (976/2172), and the rate of abnormal karyotypes associated with a normal ultrasound, empty sac, yolk sac only, small gestational sac, small embryonic pole, and early symmetrical arrested growth was 49.5 % (218/440), 28.1 % (138/491), 43.4 % (197/454), 50.0 % (43/86), 49.8 % (155/311), and 57.7 % (225/390), respectively. Compared with the other groups, the prevalence of chromosomal abnormalities was significantly higher in the early symmetrical arrested growth group but was markedly lower in the empty sac group in all cases and when cases of 46,XX were excluded (p < 0.05). Trisomy 16 was the most common chromosomal abnormality in the yolk sac only, small embryonic pole and early symmetrical arrested growth groups. In the empty sac, small gestational sac and normal ultrasound groups, monosomy X was the most frequent abnormality. Conclusions Chromosomal anomalies may be associated with specific types of ultrasound findings in EPLs after IVF-ET.

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Section: Advanced Maternal Age (Ma) Is Associated With An Increasedmentioning

confidence: 99%

Correlation analysis between ultrasound findings and abnormal karyotypes in the embryos from early pregnancy loss after in vitro fertilization-embryo transfer

Ouyang

et al. 2016

J Assist Reprod Genet

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“…Numerical chromosome anomalies are the major cause of recognized early gestational loss, with autosomal trisomies being the most frequent and representing about 50% of all abnormalities, followed by triploidies and monosomy X (Nagaishi et al, 2004;Ljunger et al, 2005). Countless efforts have been made to discover the causes of such cell division errors, particularly in couples presenting recurrence, and several hypotheses to explain them have been proposed (Turleau & Vekemans, 2005).…”

Section: Introductionmentioning

confidence: 99%

Array-CGH testing in spontaneous abortions with normal karyotypes

Borovik

Pérez²,

Silva

et al. 2008

Genet. Mol. Biol.

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In about 50% of first trimester spontaneous abortion the cause remains undetermined after standard cytogenetic investigation. We evaluated the usefulness of array-CGH in diagnosing chromosome abnormalities in products of conception from first trimester spontaneous abortions. Cell culture was carried out in short-and long-term cultures of 54 specimens and cytogenetic analysis was successful in 49 of them. Cytogenetic abnormalities (numerical and structural) were detected in 22 (44.89%) specimens. Subsequent, array-CGH based on large insert clones spaced at 1 Mb intervals over the whole genome was used in 17 cases with normal G-banding karyotype. This revealed chromosome aneuplodies in three additional cases, giving a final total of 51% cases in which an abnormal karyotype was detected. In keeping with other recently published works, this study shows that array-CGH detects abnormalities in a further~10% of spontaneous abortion specimens considered to be normal using standard cytogenetic methods. As such, array-CGH technique may present a suitable complementary test to cytogenetic analysis in cases with a normal karyotype.

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“…Cytogenetic studies of spontaneous abortions have revealed that chromosome abnormalities are the main cause, contributing with about 50 to 60% of the cases (2,3). Sex chromosome monosomy is the most common chromosomal abnormality in humans, occurring in about 1 to 2% of all pregnancies (4).…”

Section: Introductionmentioning

confidence: 99%

Prevalence of the polymorphism MTHFR A1298C and not MTHFR C677T is related to chromosomal aneuploidy in Brazilian Turner Syndrome patients

Oliveira

Bianco

Verreschi

et al. 2008

Arq Bras Endocrinol Metab

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Background: Dysfunctions in the folate metabolism can result in DNA hypomethylation and abnormal chromosome segregation. Two common polymorphisms of this enzyme (C677T and A1298C) reduce its activity, but when associated with aneuploidy studies the results are confl icting. The objective of the present study is to analyze the MTHFR gene polymorphisms in women with Turner Syndrome and in a control group, correlating the fi ndings to the chromosomal aneuploidy. Methods: The study comprised 140 patients with Turner Syndrome, of which 36 with chromosome mosaicism and 104 nonmosaics, and a control group of 209 fertile and healthy women without a history of any offspring with aneuploidy. Polymorphisms C677T and A1298C were studied by RFLP-PCR and the results were statistically analyzed. Results: The frequency of genotypes MTHFR 677CC, 677CT and 677TT in the patients with Turner Syndrome and chromosome mosaicism was, respectively, 58.3%, 38.9% and 2.8%. Among the patients with non-mosaic Turner Syndrome, 47.1% presented genotype 677CC, 45.2% genotype 677CT, and 7.7% genotype 677TT. Among the 209 individuals of the control group, genotypes 677CC, 677CT and 677TT were found at the following frequencies: 48.3%, 42.1% and 9.6%, respectively. As for polymorphism A1298C, the patients with Turner

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Chromosome abnormalities identified in 347 spontaneous abortions collected in Japan

Abstract: Overall patterns of chromosome abnormalities detected in spontaneous abortions in Japan were similar to those reported in the literature.

Cited by 100 publications

References 9 publications

Correlation analysis between ultrasound findings and abnormal karyotypes in the embryos from early pregnancy loss after in vitro fertilization-embryo transfer

Correlation analysis between ultrasound findings and abnormal karyotypes in the embryos from early pregnancy loss after in vitro fertilization-embryo transfer

Array-CGH testing in spontaneous abortions with normal karyotypes

Prevalence of the polymorphism MTHFR A1298C and not MTHFR C677T is related to chromosomal aneuploidy in Brazilian Turner Syndrome patients

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