Prevalence of common aneuploidy in twin pregnancies

Konishi, Akiko; Samura, Osamu; Muromoto, Jin; Okamoto, Yoko; Takahashi, Hironori; Kasai, Yasuyo; Ichikawa, Masao; Yamada, Naoki; Kato, Noriko; Satō, Hiroshi; Hamada, Hiromi; Nakanami, Naoyuki; Machi, Maya; Ichizuka, Kiyotake; Sunami, Rei; Tanaka, Toshitaka; Yonetani, Naoto; Kamei, Yoshimasa; Nagamatsu, Takeshi; Matsumoto, Mariko; Tairaku, Shinya; Fujiwara, A; Nakamura, Hiroaki; Harada, Takashi; Watanabe, Takafumi; Sasaki, Shoko; Kawaguchi, Satoshi; Minami, Sawako; Ogawa, Masaki; Miura, Kiyonori; Suzumori, Nobuhiro; Kojima, Junya; Kotani, Tomomi; Sasaki, Rumi; Baba, Tsukasa; Toyofuku, Aya; Takeshita, Naoki; Taketani, Takeshi; Sase, Masakatsu; Matsubara, Keiichi; Hayata, Keiji; Hamada, Yoji; Egawa, Makiko; Kakinuma, Toshiyuki; Matsushima, Sachio; Kitagawa, Michihiro; Shiga, Tomomi; Kurashina, Ryuhei; Hamada, Hisashi; Takagi, Hiroaki; Kondo, Akane; Miharu, Norio; Yamashita, Michiko; Horiya, Madoka; Morimoto, Keiji; Takahashi, Ken; Okamoto, Aikou; Sekizawa, Akihiko; Sago, Haruhiko

doi:10.1038/s10038-021-01001-0

Cited by 5 publications

(2 citation statements)

References 18 publications

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“… 19 Studies have shown that twin pregnancies are more likely to have fetal structural abnormalities than singleton pregnancies and that twin pregnancies have specific complications during pregnancy. 20 In this study, a total of 504 twin pregnancies were included, and the results showed that the sensitivity of NIPT in the detection of both singleton and twin pregnancies groups was 100%. Notably, the specificity in the latter group was slightly lower, and the PPV was also lower than that in the singleton pregnancy group, which may be because twin pregnancy is more prone to placenta mosaic and leads to false positives.…”

Section: Discussionmentioning

confidence: 89%

“…Confounding factors such as confined placental mosaicism, maternal chromosomal anomalies, and maternal background of CNV and CPM may be attributed to the false positives. 20 , 21 Therefore, when interpreting NIPT results, it is vital to take into account these factors. Pregnant subjects should be provided with professional post-test genetic counseling to ensure a thorough understanding of the results.…”

Section: Discussionmentioning

confidence: 99%

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Performance Evaluation of Noninvasive Prenatal Testing in Screening Chromosome Disorders: A Single-Center Observational Study of 15,304 Consecutive Cases in China

Ye,

Huang,

et al. 2024

IJWH

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Objective This study was to evaluate the performance of noninvasive prenatal testing (NIPT) in detecting fetal chromosome disorders in pregnant women. Methods From October 1st, 2017, to December 31th, 2022, a total of 15,304 plasma cell free DNA-NIPT samples were collected for fetal chromosome disorders screening. The results of NIPT were validated by confirmatory invasive testing or clinical outcome follow-up. Further, NIPT performance between low-risk and high-risk groups, as well as singleton pregnancy and twin pregnancy groups was compared. Besides, analysis of 111 false-positive cases was performed. Results Totally, NIPT was performed on 15,086 eligible venous blood samples, of which 179 (1.19%) showed positive NIPT results and 68 were further validated to be true positive samples via confirmatory invasive testing or follow-up of clinical outcomes. For common chromosome aneuploidies, sex chromosome abnormalities (SCA) and other chromosomal aneuploidies, the detection sensitivities of NIPT were all 100%, the specificities were 99.87%, 99.70%, and 99.68% and the positive predictive values (PPVs) were 65.45%, 31.82%, and 10.91%, respectively. No statistically significant variance in detection performance was observed among 2987 high-risk and 12,099 low-risk subjects, as well as singleton and twin pregnancy subjects. The concentration of cell-free fetal DNA of 111 false-positive cases ranged from 5.5% to 33.7%, which was higher than the minimum requirement of NIPT. Conclusion With stringent protocol, NIPT shows high sensitivity and specificity for detecting fetal chromosome disorders in a large-scale clinical service, helping improving overall pregnancy management.

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Section: Discussionmentioning

confidence: 89%

Section: Discussionmentioning

confidence: 99%

Performance Evaluation of Noninvasive Prenatal Testing in Screening Chromosome Disorders: A Single-Center Observational Study of 15,304 Consecutive Cases in China

Ye,

Huang,

et al. 2024

IJWH

View full text Add to dashboard Cite

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Cell-free DNA screening for trisomy 21 in twin pregnancy: a large multicenter cohort study

Dugoff¹,

Koelper²,

Chasen³

et al. 2023

American Journal of Obstetrics and Gynecology

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A sociodemographic index identifies sex-related effects on insomnia in the Hispanic Community Health Study/Study of Latinos

Sorajja,

Chung,

Alcántara

et al. 2024

Sleep Advances

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Study Objectives Sex differences are related to both biological factors and the gendered environment. We constructed measures to model sex-related differences beyond binary sex. Methods Data came from the baseline visit of the Hispanic Community Health Study/Study of Latinos (HCHS/SOL). We applied the least absolute shrinkage and selection operator penalized logistic regression of male versus female sex over sociodemographic, acculturation, and psychological factors jointly. Two “gendered indices,” the gendered index of sociodemographic environment (GISE) and gendered index of psychological and sociodemographic environment, summarizing the sociodemographic environment (GISE) and psychosocial and sociodemographic environment (GIPSE) associated with sex, were calculated by summing these variables, weighted by their regression coefficients. We examined the association of these indices with insomnia, a phenotype with strong sex differences, in sex-adjusted and sex-stratified analyses. Results The distribution of GISE and GIPSE differed by sex with higher values in male individuals. In an association model with insomnia, male sex was associated with a lower likelihood of insomnia (odds ratio [OR] = 0.60, 95% CI [0.53, 0.67]). Including GISE in the model, the association was slightly weaker (OR = 0.63, 95% CI [0.56, 0.70]), and weaker when including instead GIPSE in the association model (OR = 0.78, 95% CI [0.69, 0.88]). Higher values of GISE and of GIPSE, more common in the male sex, were associated with a lower likelihood of insomnia, in analyses adjusted for sex (per 1 standard deviation of the index, GISE OR = 0.92, 95% CI [0.87, 0.99], GIPSE OR = 0.65, 95% CI [0.61, 0.70]). Conclusions New measures such as GISE and GIPSE capture sex-related differences beyond binary sex and have the potential to better model and inform research studies of sleep health.

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Prevalence of common aneuploidy in twin pregnancies

Cited by 5 publications

References 18 publications

Performance Evaluation of Noninvasive Prenatal Testing in Screening Chromosome Disorders: A Single-Center Observational Study of 15,304 Consecutive Cases in China

Performance Evaluation of Noninvasive Prenatal Testing in Screening Chromosome Disorders: A Single-Center Observational Study of 15,304 Consecutive Cases in China

Cell-free DNA screening for trisomy 21 in twin pregnancy: a large multicenter cohort study

A sociodemographic index identifies sex-related effects on insomnia in the Hispanic Community Health Study/Study of Latinos

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