Only a minority of sex chromosome abnormalities are detected by a national prenatal screening program for Down syndrome

Viuff, Mette; Stochholm, Kirstine; Uldbjerg, Niels; Nielsen, Birgitte Bruun; Gravholt, Claus Højbjerg

doi:10.1093/humrep/dev192

Cited by 55 publications

(43 citation statements)

References 41 publications

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“…In the current study, we observed that KS‐GCT cases did not differ significantly from the non–KS‐GCT cases with respect to birthweight. Viuff et al did not find a difference in birthweight between KS cases and non‐KS cases, suggesting that KS does not impact birthweight …”

Section: Discussionsupporting

confidence: 83%

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Klinefelter syndrome in males with germ cell tumors: A report from the Children's Oncology Group

Williams

Pankratz

Lane

et al. 2018

Cancer

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Background Males with Klinefelter syndrome (KS; 47, XXY) may be more likely to develop germ cell tumors (GCTs), particularly mediastinal GCTs. There are no reports characterizing the prevalence of KS among male GCT cases. Methods We used array genotyping data from a Children’s Oncology Group epidemiology study to estimate the prevalence of KS in males with GCTs (n=433; aged 0–19 years). Using Fisher’s exact tests, we examined differences in age at diagnosis, race/ethnicity, tumor location and histology, and a number of birth characteristics between KS-GCT cases and GCT cases without chromosomal abnormalities. Using publicly available data, we estimated the 1-year risk, risk ratio (RR), and corresponding 95% confidence interval (95% CI) of GCTs among KS cases. Results Based on analysis of array genotyping data, 3% (n=13) of male GCT cases had KS. The additional X chromosome was of maternal origin in7/13 cases. Of these 13 KS cases, 5/9 (56%) KS-GCT cases with parental questionnaire data reported a diagnosis of KS. We did not observe significant differences in patient or birth characteristics between KS-GCT and non-KS-GCT cases. KS-GCT cases were significantly more likely to be diagnosed with mediastinal tumors than non-KS-GCT cases (p<0.01). We estimated the risk of developing a GCT among males with KS to be 0.00025, or 1/4,000 (RR: 18.8; 95% CI: 11.7, 30.0). Conclusions Compared to males without chromosomal abnormalities, KS males are more likely to be diagnosed with a mediastinal GCT. The presence of KS should be considered in males with a diagnosis of mediastinal GCT.

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Section: Discussionsupporting

confidence: 83%

“…As others have reported, we observed a higher, although nonsignificant, percentage of KS‐GCT males born to mothers of older age . There are 2 reports of an increased risk of KS for each decade increase in paternal age (controlling for maternal age); however, we did not observe a difference in paternal age between case groups.…”

Section: Discussioncontrasting

confidence: 67%

Klinefelter syndrome in males with germ cell tumors: A report from the Children's Oncology Group

Williams

Pankratz

Lane

et al. 2018

Cancer

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“…Yet, some spontaneous abortions with T18 or T13 might not be captured by our surveillance system due to the lack of karyotype analysis. The incidence of sex chromosomal abnormalities was 1% in pregnancies when prenatal diagnosis was performed, with prenatal detection rate below 50% [4, 25]. The fact that newborns without clinics presentation might not have undergone karyotype confirmation even if they possessed sex chromosomal abnormalities.…”

Section: Discussionmentioning

confidence: 99%

Chromosomal abnormalities: subgroup analysis by maternal age and perinatal features in zhejiang province of China, 2011–2015

et al. 2017

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BackgroundRecently, the prevalence of chromosomal abnormalities (CA) increased as the increasing proportion of mothers with advanced age. We aimed to explore the prevalence of CA in relation to maternal age and perinatal features.MethodsA retrospective study was performed based on provincial birth defects surveillance data. The relative risk (RR) and 95% confidence interval (CI) were used to calculate maternal age-specific rates of CA. Socio-demographic characteristics of mothers and perinatal features were listed.ResultsThe total prevalence of CA was 6.38 per 10,000 births, which increased per 10,000 births linearly from 4.02 in 2011 to 9.13 in 2015 (x 2 line-trend =52.69, p < 0.001). During this period, the prevalence for CA per 10,000 births among women over 35 years old increased from 15.34 in 2011 to 33.82 in 2015 (x 2 line-trend =115121.6, p < 0.001). The RR for overall CA, trisomy 21(T21), trisomy 18(T18) and others in mothers 35 years or older were 6.64 (95% CI 5.55 ~ 7.93), 6.83 (95% CI 5.63 ~ 8.30), 4.06 (95% CI 2.09 ~ 7.90) and 7.54 (95% CI 4.02 ~ 14.11) respectively in comparison to mothers aged 25–29 years old. The stillbirths rate for total CA was 76.45%. T21 and T18 were strongly associated with multiple anomalies, especially congenital heart abnormalities.ConclusionsThe prevalence of CA increased as maternal age increased. Cases with CA were associated with other congenital defects and high mortality risk.

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“…Other ultrasound findings suggestive of TS are coarctation of the aorta and/or left-sided cardiac defects (which should be further imaged by fetal echocardiography), brachycephaly, renal anomalies, polyhydramnios, oligohydramnios and growth retardation (40). Abnormal triple or quadruple maternal serum screening (alpha-fetoprotein, human chorionic gonadotropin, inhibin A and unconjugated estriol) may also suggest the diagnosis of TS (41), but these tests may be perfectly normal together with normal nuchal fold thickness (42). Ultrasound and maternal serum screening are not diagnostic, and karyotype confirmation of TS is obligatory.…”

Section: Prenatal Diagnosismentioning

confidence: 99%

Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting

Gravholt¹,

Andersen

Conway

et al. 2017

European Journal of Endocrinology

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874

1,259

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Turner syndrome affects 25-50 per 100,000 females and can involve multiple organs through all stages of life, necessitating multidisciplinary approach to care. Previous guidelines have highlighted this, but numerous important advances have been noted recently. These advances cover all specialty fields involved in the care of girls and women with TS. This paper is based on an international effort that started with exploratory meetings in 2014 in both Europe and the USA, and culminated with a Consensus Meeting held in Cincinnati, Ohio, USA in July 2016. Prior to this meeting, five groups each addressed important areas in TS care: 1) diagnostic and genetic issues, 2) growth and development during childhood and adolescence, 3) congenital and acquired cardiovascular disease, 4) transition and adult care, and 5) other comorbidities and neurocognitive issues. These groups produced proposals for the present guidelines. Additionally, four pertinent questions were submitted for formal GRADE (Grading of Recommendations, Assessment, Development and Evaluation) evaluation with a separate systematic review of the literature. These four questions related to the efficacy and most optimal treatment of short stature, infertility, hypertension, and hormonal replacement therapy. The guidelines project was initiated by the European Society of Endocrinology and the Pediatric Endocrine Society, in collaboration with the European Society for Paediatric Endocrinology, the Endocrine Society, the European Society of Human Reproduction and Embryology, the American Heart Association, the Society for Endocrinology, and the European Society of Cardiology. The guideline has been formally endorsed by the European Society of Endocrinology, the Pediatric Endocrine Society, the European Society for Paediatric Endocrinology, the European Society of Human Reproduction and Embryology and Summary of recommendationsThe recommendations (R) are worded as recommend (strong recommendation) and suggest (weak recommendation). We formally graded only the evidence underlying recommendations for therapeutic choices. The quality of evidence behind the recommendations is classified as very low (⨁◯◯◯), low (⨁⨁◯◯), moderate (⨁⨁⨁◯) and strong (⨁⨁⨁⨁). See further section 'Summary of methods used for guideline development'. Diagnosis and geneticsR 1.1. We recommend considering a diagnosis of TS in phenotypic females with a karyotype containing one X chromosome and complete or partial absence of the second sex chromosome, associated with one or more typical clinical manifestations of TS (⨁⨁⨁⨁). R 1.2. We recommend against considering a diagnosis of TS in females with one X chromosome and a deletion distal to Xq24 on the other X chromosome, and in women over the age of 50 years with less than 5% 45,X mosaicism (⨁⨁◯◯). R 1.3. We suggest that the new general surveillance management guideline applies to TS patients with any karyotype (⨁⨁◯◯). R 1.4. We recommend to consider testing for Turner syndrome (TS) in a female with typical signs (Table 2) (⨁⨁⨁⨁). R 1.5. We ...

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Only a minority of sex chromosome abnormalities are detected by a national prenatal screening program for Down syndrome

Abstract: This study received support from Aarhus University and the Novo Nordisk Foundation. The authors have no competing interests that may be relevant to the study.

Cited by 55 publications

References 41 publications

Klinefelter syndrome in males with germ cell tumors: A report from the Children's Oncology Group

Klinefelter syndrome in males with germ cell tumors: A report from the Children's Oncology Group

Chromosomal abnormalities: subgroup analysis by maternal age and perinatal features in zhejiang province of China, 2011–2015

Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting

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