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1.
Med Res Arch ; 12(4)2024 Apr.
Article in English | MEDLINE | ID: mdl-38818307

ABSTRACT

Background: In recent years, cervical cancer screening among Black women in the United States has declined, followed by increased incidence and mortality. We aim to evaluate the individual, sociocultural, and structural barriers to cervical cancer screening in relationship to the exam technique barriers. Methods: Participants received cervical cancer self-screening kits in the mail. They returned their samples and a quantitative survey developed from the Health Information National Trends Survey (HINTS) modules designed to address the known individual, sociocultural, and structural barriers to screening. We established the fourteen attributes of cervical cancer screening techniques from prior work. Participants then shared their experiences in a semi-structured qualitative interview informed by the Theoretical Domains Framework (TDF) to explore the answers to the survey questions. We coded themes from the interviews. Women were grouped as younger (30-45 years) and older (46-65 years). Results: Of the 41 women completing the study, 21 were in the younger age group (mean 37.3, SD 4.7), and 20 were in the older age group (56.5 (5.5)). All participants self-identified as African American/Black and were due for cervical cancer screening. Women indicated that individual, sociocultural, and structural barriers influenced their cervical cancer screening, but the most significant barrier was the speculum-based technique itself. Three positive attributes and eight negative attributes significantly differed by screening technique, favoring the self-screening technique. Conclusions: The self-screening technique for screening for cervical cancer is feasible and acceptable to this group of Black women.

2.
Mol Med ; 27(1): 3, 2021 01 07.
Article in English | MEDLINE | ID: mdl-33413077

ABSTRACT

BACKGROUND: Fetal growth restriction (FGR) is associated with increased risks for complications before, during, and after birth, in addition to risk of disease through to adulthood. Although placental insufficiency, failure to supply the fetus with adequate nutrients, underlies most cases of FGR, its causes are diverse and not fully understood. One of the few diagnosable causes of placental insufficiency in ongoing pregnancies is the presence of large chromosomal imbalances such as trisomy confined to the placenta; however, the impact of smaller copy number variants (CNVs) has not yet been adequately addressed. In this study, we confirm the importance of placental aneuploidy, and assess the potential contribution of CNVs to fetal growth. METHODS: We used molecular-cytogenetic approaches to identify aneuploidy in placentas from 101 infants born small-for-gestational age (SGA), typically used as a surrogate for FGR, and from 173 non-SGA controls from uncomplicated pregnancies. We confirmed aneuploidies and assessed mosaicism by microsatellite genotyping. We then profiled CNVs using high-resolution microarrays in a subset of 53 SGA and 61 control euploid placentas, and compared the load, impact, gene enrichment and clinical relevance of CNVs between groups. Candidate CNVs were confirmed using quantitative PCR. RESULTS: Aneuploidy was over tenfold more frequent in SGA-associated placentas compared to controls (11.9% vs. 1.1%; p = 0.0002, OR = 11.4, 95% CI 2.5-107.4), was confined to the placenta, and typically involved autosomes, whereas only sex chromosome abnormalities were observed in controls. We found no significant difference in CNV load or number of placental-expressed or imprinted genes in CNVs between SGA and controls, however, a rare and likely clinically-relevant germline CNV was identified in 5.7% of SGA cases. These CNVs involved candidate genes INHBB, HSD11B2, CTCF, and CSMD3. CONCLUSIONS: We conclude that placental genomic imbalances at the cytogenetic and submicroscopic level may underlie up to ~ 18% of SGA cases in our population. This work contributes to the understanding of the underlying causes of placental insufficiency and FGR, which is important for counselling and prediction of long term outcomes for affected cases.


Subject(s)
DNA Copy Number Variations , Fetal Growth Retardation/genetics , Microsatellite Instability , Placenta/chemistry , Aneuploidy , Case-Control Studies , Cytogenetic Analysis/methods , Female , Genomic Imprinting , Genotyping Techniques , Humans , Infant, Newborn , Infant, Small for Gestational Age , Male , Mosaicism , Oligonucleotide Array Sequence Analysis/methods , Pregnancy
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