The association between maternal occupation and down syndrome: A report from the national Down syndrome project

Keen, Colleen; Hunter, Jessica Ezzell; Allen, Emily G.; Rocheleau, Carissa M.; Waters, Martha A.; Sherman, Stephanie L.

doi:10.1016/j.ijheh.2019.09.001

Cited by 10 publications

(5 citation statements)

References 26 publications

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“…Trisomy 21 is manifested by multiple phenotypes, including intellectual disability, congenital heart defects, and muscle hypotonia (Hecht and Hook, 1996;Antonarakis et al, 2004;Mazurek and Wyka, 2015;Antonarakis, 2017;de Graaf et al, 2017;Reeves et al, 2019;Bull, 2020;de Graaf et al, 2021). Advanced maternal age, environmental factors, as well as meiotic and mitotic errors are the main risk factors for trisomy 21 (Antonarakis et al, 1992;Torfs and Christianson, 2003;Allen et al, 2009;Ghosh et al, 2009;Nagaoka et al, 2012;Hunter et al, 2013;Coppede, 2016;Gruhn et al, 2019;Keen et al, 2020). Here, we present a rare case about a young couple with normal karyotypes who underwent IVF and ET assisted pregnancy.…”

Section: Introductionmentioning

confidence: 81%

Case Report: Twin Pregnancy Gives Birth to a Girl with Partial Trisomy 21 Mosaicism after in vitro Fertilization and Embryo Transfer

Guo

Kang

et al. 2022

Front. Genet.

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Objective: To report a rare case in which an IVF-ET twin pregnancy gave birth to a partial trisomy 21 chimera girl.Design: Case report.Setting: University hospital.Patient: A girl with partial trisomy 21 mosaicism after in vitro fertilization and embryo transfer.Interventions:In vitro fertilization (IVF) and embryo transfer (ET).Main Outcome Measure: Karyotype analysis, Copy Number Variation sequencing (CNV-seq), stLFR-WGS, and Short Tandem Repeat (STR) analysis.Results: Being assisted with IVF and EF technology, the couple successfully gave birth to twin sisters at 37 weeks of gestational age. The NonInvasive Prenatal Testing (NIPT) and Nuchal Translucency (NT) examination showed no detectable genetic abnormalities during pregnancy. However, the younger infant displayed growth retardation and feeding difficulties after birth, which was not observed in her twin sister. Further genetic counseling and diagnosis suggested that she is a Chimera with complex partial trisomy 21. The stLFR-WGS assay showed multiple CNV variations in Chr21 and STR analysis confirmed the paternal origin of the additional fragments.Conclusion: It is rare for IVF-ET-assisted twin pregnancy to give birth to a girl with a complex combination of abnormal Chr21, which might result from paternal chromosome rearrangement during meiosis and mitosis.

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Section: Introductionmentioning

confidence: 81%

Case Report: Twin Pregnancy Gives Birth to a Girl with Partial Trisomy 21 Mosaicism after in vitro Fertilization and Embryo Transfer

Guo

Kang

et al. 2022

Front. Genet.

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“…Occupational status, although not the most comprehensive measure of SES, is widely used e.g. [ 29 , 31 ].…”

Section: Methodsmentioning

confidence: 99%

The effects of maternal depression on their perception of emotional and behavioral problems of their internationally adopted children

Liskola

Raaska

Lapinleimu

et al. 2021

Child Adolesc Psychiatry Ment Health

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Background Even though child psychopathology assessment guidelines emphasize comprehensive multi-method, multimodal, and multi-informant methodologies, maternal-report symptom-rating scales often serve as the predominant source of information. Research has shown that parental mood symptomatology affects their reports of their offspring’s psychopathology. For example, the depression-distortion hypothesis suggests that maternal depression promotes a negative bias in mothers’ perceptions of their children’s behavioral and emotional problems. We investigated this difference of perception between adoptive mothers and internationally adopted children. Most previous studies suffer from the potential bias caused by the fact that parents and children share genetic risks. Methods Data were derived from the Finnish Adoption (FinAdo) survey study (a subsample of adopted children aged between 9 and 12 years, n = 222). The Child Behavior Checklist (CBCL) was used to assess emotional and behavioral problems and competences of the adopted children. The CBCL was filled in by the adopted children and the adoptive mothers, respectively. Maternal depressive symptoms were measured using the short version of the General Health Questionnaire. Results On average, mothers reported less total CBCL symptoms in their children than the children themselves (0.25 vs 0.38, p-value < 0.01 for difference). Mothers’ depressive symptoms moderated the discrepancy in reporting internalizing symptoms (β = − 0.14 and p-value 0.01 for interaction) and the total symptoms scores (β = − 0.22 and p-value < 0.001 for interaction) and externalizing symptoms in girls in the CBCL. Limitations The major limitation of our study is its cross-sectional design and the fact that we only collected data in the form of questionnaires. Conclusions The results of our research support the depression-distortion hypothesis concerning the association of maternal depressive symptoms and child internalizing symptoms and externalizing symptoms in girls in a sample without genetic bias

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“…Several studies have shown an association between maternal socio‐economic status and incidence of Down syndrome births , 84‐86 although this may reflect to some extent differences in the uptake of prenatal diagnosis and termination. Recently, it was noted that the odds of MII error were increased among production workers and within this group, those thought to be exposed to solvents may have been at increased risk for MI error 87 . Women who worked in life‐, physical‐ and social‐sciences, or in food preparation, or serving‐related occupations also experienced a greater likelihood of MI errors.…”

Section: Environmental Exposuresmentioning

confidence: 99%

“…Recently, it was noted that the odds of MII error were increased among production workers and within this group, those thought to be exposed to solvents may have been at increased risk for MI error. 87 Women who worked in life-, physical-and social-sciences, or in food preparation, or serving-related occupations also experienced a greater likelihood of MI errors. Exposure to phthalates is discussed elsewhere in this Special Issue.…”

Section: Environmental Exposuresmentioning

confidence: 99%

Review of epidemiological factors (other than maternal age) that determine the prevalence of common autosomal trisomies

Cuckle

Benn

2020

Prenatal Diagnosis

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The birth prevalence of each common autosomal trisomy (21, 18 and 13) increases with advancing maternal age and this is the most important epidemiological risk factor. Prevalence during pregnancy is also dependent on gestational age. Other factors claimed to influence prevalence include paternal age, ethnicity, family history, premature reproductive aging, parity, twinning, smoking, environmental exposures, maternal medical conditions, and predispositions. We review the evidence for these associations since they may provide insights into causal mechanisms. When investigating potential co‐factors it is important to adequately allow for maternal age and minimize its confounding contribution. This is well illustrated by reports of an inverse paternal age effect where there is strong correlation between parental ages. Gestational age at diagnosis, availability of prenatal screening, diagnostic testing, and elective termination of affected pregnancies and healthcare disparities also confound the studies on ethnicity, medical conditions, and predispositions or environmental factors. Data from twin zygosity studies demonstrate the importance of differences in fetal viability for affected pregnancies. We conclude that existing epidemiological evidence for most of the co‐factors discussed should currently be considered tenuous; history of Down syndrome, albeit biased, may be an exception. The co‐factors may yet provide clues to hitherto poorly understood causal pathways.

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The association between maternal occupation and down syndrome: A report from the national Down syndrome project

Cited by 10 publications

References 26 publications

Case Report: Twin Pregnancy Gives Birth to a Girl with Partial Trisomy 21 Mosaicism after in vitro Fertilization and Embryo Transfer

Case Report: Twin Pregnancy Gives Birth to a Girl with Partial Trisomy 21 Mosaicism after in vitro Fertilization and Embryo Transfer

The effects of maternal depression on their perception of emotional and behavioral problems of their internationally adopted children

Review of epidemiological factors (other than maternal age) that determine the prevalence of common autosomal trisomies

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