Reliability of 46,XX results on miscarriage specimens: a review of 1,222 first-trimester miscarriage specimens

Lathi, Ruth B.; Gustin, Stephanie; Keller, Jennifer; Maisenbacher, Melissa; Sigurjonsson, Styrmir; Tao, Rosina; Demko, Zach

doi:10.1016/j.fertnstert.2013.09.031

Cited by 79 publications

(78 citation statements)

References 17 publications

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“…Our range of plausible values for percentage male is compatible with the finding that a majority of pregnancy losses are female during the period from implantation through the first half of the second trimester (35). The observed values for percentage of male and female pregnancy losses were corrected for outcome misclassification due to MCC (33). Stratified analyses.…”

Section: Methodssupporting

confidence: 80%

“…Female karyotypes of first-trimester losses may be inaccurate due to MCC (33), and 15 of 17 euploid female karyotype results did not exclude possible MCC. A simple quantitative bias analysis (34) that was informed by an external validation study (33) evaluated bias from outcome misclassification to the estimated effect of LDA on pregnancy with male offspring.…”

Section: Methodsmentioning

confidence: 96%

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Sex ratio following preconception low-dose aspirin in women with prior pregnancy loss

Radin

Silver

Lesher

et al. 2015

Journal of Clinical Investigation

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alter the sex ratio of pregnancies among women with a history of pregnancy loss, given the sex-dependent embryonic effects of maternal inflammation.BACKGROUND. Several lines of evidence suggest that male embryos may have greater vulnerability than female embryos to disordered inflammation; therefore, antiinflammatory drugs, such as low-dose aspirin (LDA), may alter the sex ratio. Here, we assessed the effect of LDA on male live birth and male offspring, incorporating pregnancy losses (n = 56) via genetic assessment, as part of a parallel-design, block-randomized, placebo-controlled trial of preconception LDA. METHODS.Participants (615 treated with LDA, 613 treated with placebo) ranged in age from 18 to 40 years of age, with 1 to 2 prior pregnancy losses. We estimated the intention-to-treat (ITT) risk ratio (RR) and 95% CI and assessed interaction with baseline high-sensitivity C-reactive protein (hsCRP) serum concentration -a marker of systemic inflammation. RESULTS.Among the 1,078 women who completed follow-up (535 treated with LDA, 543 treated with placebo), the male live birth ITT RR equaled 1.31 (95% CI: 1.07-1.59). With increasing tertile of hsCRP, the proportion of males at birth decreased in the placebo group, and the effect of LDA on male live birth increased (first tertile: 48% male in LDA vs. 52% in placebo, ITT RR = 0.97, 95% CI: 0.70-1.35; second tertile: 57% male in LDA vs. 43% in placebo, ITT RR = 1.36, 95% CI: 0.98-1.90; third tertile: 53% male in LDA vs. 35% in placebo, ITT RR = 1.70, 95% CI: 1.13-2.57; P interaction = 0.03). Analysis of pregnancy with male offspring yielded similar results. CONCLUSION.Initiation of LDA prior to conception restored numbers of male live births and pregnancy with male offspring among women with 1 to 2 prior pregnancy losses. Moreover, our data suggest that LDA modulates inflammation that would otherwise reduce the conception or survival of male embryos. TRIAL REGISTRATION. ClinicalTrials.gov NCT00467363.

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Section: Methodssupporting

confidence: 80%

Section: Methodsmentioning

confidence: 96%

Sex ratio following preconception low-dose aspirin in women with prior pregnancy loss

Radin

Silver

Lesher

et al. 2015

Journal of Clinical Investigation

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“…They also found that the contamination rate varied in frequency by centers from <5 to 50 %. Nevertheless, even after discounting these samples, the female abortus rate was slightly higher [6]. Another study analyzed X and Y chromosomes in maternal and villous DNA extracted from microdissected, formalin-fixed, and paraffin-embedded archival tissues, using polymerase chain reaction assays and confirming by fluorescence in situ hybridization [16].…”

Section: Discussionmentioning

confidence: 99%

“…However, most of them believed that higher female abortus rate was related to maternal cells contamination from maternally derived cells or blood when extracting products of conception [6]. Although most studies have analyzed the sex ratio of abortuses with normal chromosomes, few have assessed the sex ratio of abortuses with chromosomal anomalies [4,5].…”

Section: Introductionmentioning

confidence: 99%

Chromosome distribution of early miscarriages with present or absent embryos: female predominance

Cheng

Tsai

et al. 2014

J Assist Reprod Genet

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Purpose The objective of this study is to compare the chromosomal distribution of early miscarriages with or without embryonic poles. Materials and methods It was a retrospective study of 223 women who underwent dilation and curettage (D&C) between 1995 and 2013 for early miscarriages. The presence or absence of a fetal pole was evaluated by abdominal or transvaginal ultrasound. Cytogenetic tests of products of conception following culture were determined in both groups. Results Of the 223 early miscarriages, 143 had embryos and 80 did not. The abnormality rate differed significantly (61.5 % vs. 46.3 %, p<0.05), with trisomy 18, 21 and 45X found only in miscarriages with embryos. There were no significant differences between groups in rates of triploidy, tetraploidy, mosaicism, structure and double abnormality. The female abortus rate was higher in miscarriages with or without embryonic poles, as well as in groups with normal and abnormal karyotypes.Conclusions Chromosome distribution differs in miscarriages with or without embryonic poles. The ultrasound findings might offer different direction to determine the causes of early miscarriages. The higher female abortus rate may be associated with early selection.

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“…ter often leading to an overdiagnosis of normal female karyotypes [Lathi et al, 2014]. Analysis of chorionic villi (CV) obtained by sampling before evacuation minimizes external microbial contamination, and karyotyping after short-term culture (STC) guarantees the embryonic origin of the sample.…”

mentioning

confidence: 99%

Overview of Chromosome Abnormalities in First Trimester Miscarriages: A Series of 1,011 Consecutive Chorionic Villi Sample Karyotypes

Soler

Morales²,

Mademont-Soler³

et al. 2017

Cytogenet Genome Res

128

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In order to contribute to the knowledge of type and frequency of chromosome abnormalities in early pregnancy losses, we analyzed the cytogenetic results from a large series of first trimester miscarriages, using a diagnostic approach with a high success rate and no maternal contamination. A total of 1,119 consecutive chorionic villi samples were obtained before evacuation, and karyotypes were prepared after short-term culture (STC). In 603 samples, a long-term culture (LTC) was also performed. The overall and individual frequencies of the different types of chromosome abnormalities were established, including placental mosaicisms, and their relationship with maternal age and gestational weeks was assessed. An abnormal karyotype was detected in 70.3% of the samples. Single autosomal trisomy was the most frequent abnormality (64.6% of the abnormal cases), followed by triploidy (13.1%) and monosomy X (10.4%). Chromosome rearrangements were found in 5.2%, combined abnormalities in 8.9%, and placental mosaicism in 3.5% of the cases with STC and LTC performed. Individual trisomies behaved differently with respect to maternal age and intrauterine survival. Due to the combination of STC and LTC, our study offers reliable information on the incidence and type of chromosome abnormalities and placental mosaicism in miscarriages and contributes to define the cytogenetic implication in their etiology.

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Reliability of 46,XX results on miscarriage specimens: a review of 1,222 first-trimester miscarriage specimens

Cited by 79 publications

References 17 publications

Sex ratio following preconception low-dose aspirin in women with prior pregnancy loss

Sex ratio following preconception low-dose aspirin in women with prior pregnancy loss

Chromosome distribution of early miscarriages with present or absent embryos: female predominance

Overview of Chromosome Abnormalities in First Trimester Miscarriages: A Series of 1,011 Consecutive Chorionic Villi Sample Karyotypes

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