Introduction: Prenatal diagnosis comprises all diagnostic modalities aimed at gaining information about the embryo or fetal wellbeing. It enables antenatal care tailored to the individual need(s) of the fetus.
Aim: To determine the knowledge, practice and prospect of prenatal diagnosis among reproductive health care providers in Abakaliki, Nigeria.
Materials And Methods: This was a cross-sectional descriptive study in which completely filled self-administered semi-structured questionnaires were retrieved from 182 reproductive healthcare providers at Federal Teaching Hospital, Abakaliki (FETHA). The questionnaires contained 17 items covering the socio-demographic data, knowledge, practice and prospects of prenatal diagnosis among the respondents.
Result: A total of 179 respondents (98.4%) were aware of the prenatal diagnosis. One hundred and sixty four (90.1%) of the respondents agreed that, prenatal diagnostic services is offered in the study centre and 97% of these respondents cited ultrasound scan as the prenatal diagnostic investigation. While 133 respondents (73.1%) would allow parents to decide the next line of action after due counseling for the diagnosis of a condition not compatible with extrauterine life was made, 23(12.6%) of the respondents would offer termination of the pregnancy. Among the respondents, 173(95.1%) would encourage prenatal diagnosis at the study centre and 153(88.4%) of the 173 respondents would do so by educating the populace on the benefits of the procedure. However, 2(1.1%) of the respondent would not encourage the practice of prenatal diagnosis in FETHA citing adverse effects on the woman and her fetus.
Conclusion: Reproductive healthcare providers in Abakaliki have a high level of awareness and favorable disposition to prenatal diagnosis. However, prenatal diagnosis is still rudimentary in this environment.
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http://dx.doi.org/10.7860/JCDR/2017/22874.9424 | DOI Listing |
Pediatr Surg Int
January 2025
Department of Pediatric and Adolescent Surgery, Schneider Children's Medical Center of Israel, 14 Kaplan St, Petah Tiqwa, Israel.
Introduction: AIM: The aim of the study is to determine the optimal timing for surgery in patients with small bowel duplications.
Methods: A retrospective cohort study, including all patients younger than 18 years who were diagnosed with small bowel duplications from 2013 until 2024 in a single tertiary medical center, was performed. Patients' demographics, duplication size and location, pathological results, and clinical outcomes were collected.
Alzheimers Dement
December 2024
Universidade do Vale do Rio dos Sinos, São Leopoldo, Rio Grande do Sul, Brazil.
Background: In recent years, researchers have linked epigenetic factors to numerous diseases, one of them being Alzheimer's Disease (AD). Those factors may lead to the disease but also serve as a path for new treatments and prevention methods.
Method: A wide selection of articles in the PubMed platform that focused on epigenetics, Alzheimer's Disease, and correlating aspects among them were reviewed.
Dev Sci
March 2025
Manibus Lab, Department of Psychology, University of Turin, Turin, Italy.
Previous research indicates that both adults and newborns show enhanced electrophysiological and behavioral responses to schematic face-like configurations (FCs-three dots composing a downward-pointing triangle), as compared to the inverted configurations (ICs). Even fetuses, when exposed to light stimuli projected through the uterine wall, preferentially orient their heads toward FCs rather than ICs. However, when this effect emerges along the third trimester of pregnancy and in relation to the maturation of which brain structures is still unknown.
View Article and Find Full Text PDFClin Chem
January 2025
Department of Obstetrics & Gynaecology, The Chinese University of Hong Kong, Hong Kong SAR, China.
Background: Mate-pair sequencing detects both balanced and unbalanced structural variants (SVs) and simultaneously informs in relation to both genomic location and orientation of SVs for enhanced variant classification and clinical interpretation, while chromosomal microarray analysis (CMA) only reports deletion/duplication. Herein, we evaluated its diagnostic utility in a prospective back-to-back prenatal comparative study with CMA.
Methods: From October 2021 to September 2023, 426 fetuses with ultrasound anomalies were prospectively recruited for mate-pair sequencing and CMA in parallel for prenatal genetic diagnosis.
Clin Chem
January 2025
Division of Maternal-Fetal-Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, United States.
Background: Genetic screening has advanced from prenatal cell-free DNA (cfDNA) screening for aneuploidies (cfDNA-ANP) to single-gene disorders (cfDNA-SGD). Clinical validation studies have been promising in pregnancies with anomalies but are limited in the general population.
Methods: Chart review and laboratory data identified pregnancies with cfDNA-SGD screening for 25 autosomal dominant conditions at our academic center.
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