Double trisomy

Li, Shibo; Hassed, Susan J.; Mulvihill, John J.; Nair, Ambika K.; Hopcus, Deborah J.

doi:10.1002/ajmg.a.20340

Cited by 13 publications

(7 citation statements)

References 42 publications

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Section: Abstract: Cytogenetics Spontaneous Abortion Aneuploidy Kmentioning

confidence: 99%

“…18 -20 Furthermore, multiple aneuploidies continue to be reported infrequently in the literature, predominantly as sporadic case reports, some involving liveborn conceptuses. [21][22][23] Advances in technology and techniques continue to improve our diagnostic abilities. The utilization of comparative genomic hybridization (CGH) and interphase fluorescence in situ hybridization (iFISH) has allowed cytogenetic laboratories to evaluate POC samples that have failed to grow.…”

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confidence: 99%

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Incidence and spectrum of chromosome abnormalities in spontaneous abortions: New insights from a 12-year study

Menasha

Levy

Hirschhorn

et al. 2005

Genetics in Medicine

257

183

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Purpose: Despite advances in harvesting and culturing techniques, analysis of the impact of these improvements on the observed frequency of chromosomal abnormalities in spontaneous abortions (SAB) has not been determined. We sought to evaluate the effect of these refinements on the success rate of our cultures and on the resulting frequency of detected chromosomal abnormalities. Methods: Between 1990 and 2002, 2301 specimens obtained from the products of conception (POC) of SABs were submitted to our laboratory for cytogenetic analysis.Due to refinements in specimen processing and culture techniques introduced at the end of 1997, our data were analyzed for two periods: Period A from 1990 through 1997 with 907 eligible specimens and Period B from 1998 through 2002 with 1273 eligible specimens. Results: Modifications in physician communication and sample processing contributed to significant improvements in the culture success rate and in the ratio of male-to-female cases with normal karyotypes. Additionally, increased detection of trisomic, triploid, and multiple aneuploid cases in Period B resulted in a significant increase in the percentage of cases with abnormal karyotypes (42.8% in Period A vs. 65.8% in Period B). Monosomy X accounted for Ͻ 10% of all abnormalities in Period B. Eighty five multiple aneuploid karyotypes, including 57 double trisomies, comprised 7.7% of our 1099 abnormal cases. These karyotypes were detected predominantly in POCs from the older women in our study. This collection of multiple aneuploidies is the largest published to date and includes abnormalities not reported in prior studies. We also present a table empirically derived from the data in Period B that indicates the likelihood of a specific abnormal karyotype based on maternal age. The table can be utilized by health care providers, who counsel patients after a spontaneous miscarriage. Conclusion: Improvements in laboratory technique have led to reduced contamination and growth failure of POCs, irrespective of maternal age. This in turn has led to a more balanced male-to-female ratio and to the detection of an increased number of abnormal cases. Genet Med 2005:7(4):251-263. Key Words: cytogenetics, spontaneous abortion, aneuploidy, karyotype, chromosome abnormalityA correlation between chromosomal abnormalities and spontaneous abortions (SABs) has been observed since the 1960s. 1 This correlation was strengthened in the 1970s when Boue et al. 2 published one of the earliest large cytogenetic studies. In the study, almost 1500 samples of fetal tissue were karyotyped and an abnormality rate of over 60% was found. Subsequent large studies using harvested products of conception (POC) failed to match this abnormality rate, with rates of 32%-54% reported. [3][4][5][6][7][8][9] Furthermore, a large number of specimens in these studies failed to grow successfully in culture and thus could not be evaluated for abnormalities. The data culled from these studies have served as the basis for the estimated abnormality rates in the general popu...

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Section: Abstract: Cytogenetics Spontaneous Abortion Aneuploidy Kmentioning

confidence: 99%

mentioning

confidence: 99%

Incidence and spectrum of chromosome abnormalities in spontaneous abortions: New insights from a 12-year study

Menasha

Levy

Hirschhorn

et al. 2005

Genetics in Medicine

257

183

View full text Add to dashboard Cite

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“…[18][19][20] Diego-Alvarez et al 19 reported that the mean maternal age was 39.7 ± 3.4 years. Consistent with this, almost all cases originate in maternal meiosis.…”

Section: Spectrum Of Chromosomal Abnormalitiesmentioning

confidence: 99%

Causes of Fetal Wastage

Simpson¹

2007

Clinical Obstetrics and Gynecology

100

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Fetal wastage has many causes, but genetic factors are by far the most common. The earlier the pregnancy loss occurs, the greater the likelihood of genetic causation. Among first trimester abortions, 50% to 80% show chromosomal abnormalities, usually aneuploidy. This is greater than all other causes combined. Chromosomal numerical abnormalities can be recurrent and sporadic; failure to take this into account is a major pitfall in many reports addressing causation. Moreover, many causes of fetal wastage that are traditionally considered to be "nongenetic" are actually the result of perturbations of gene products-proteins. Among nongenetic causes of first trimester fetal wastage, the best established are thyroid abnormities; antifetal antibodies; and the inherited and acquired thrombophilias. The latter are more established in the second trimester. Uterine anomalies can lead to second trimester losses. Infections seem uncommon, and alloimmune causes are not validated.

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“…Reports on patients of mosaic Down syndrome with more than one additional chromosome or double aneusomy is extremely rare in humans (Li et al, 2004). Several patients involving autosome and/or sex chromosome aneuploidy, such as double autosomal trisomy and autosomal trisomy with sex chromosome monosomy or trisomy though rare in live borns have also been reported (Mac Faul et al, 1981;Reddy, 1997).…”

Section: Introductionmentioning

confidence: 99%