About This Project
Chromosomal abnormalities are significantly underdetected in Ethiopia, creating critical gaps in early diagnosis and intervention. We hypothesize that multiplex ligation-dependent probe amplification (MLPA) can effectively identify common chromosomal abnormalities in amniotic fluid samples from fetuses showing anomalies on ultrasound. The expected outcome is improved detection of chromosomal disorders, contributing to better prenatal diagnosis and care.
Ask the Scientists
Join The DiscussionWhat is the context of this research?
Sometimes, there can be changes in the number or structure of chromosomes in a fetus. These are known as chromosomal disorders, and they are often the underlying cause of birth defects and pregnancy complications. In Ethiopia, there is very little data on how common these disorders are or how they affect families. Without this information, it is difficult for healthcare providers and policymakers to offer appropriate support services, counseling, or early interventions. This study aims to address that gap. We will identify pregnancies with fetal anomalies using ultrasound and apply a laboratory method called Multiplex Ligation-dependent Probe Amplification (MLPA) to detect chromosomal disorders (Schouten et al. (2018). https://link.springer.com/prot...The study will be conducted at two specialized hospitals in Ethiopia where fetal medicine services are available.
What is the significance of this project?
This study aims to improve the early diagnosis of chromosomal disorders in pregnancies. Early identification of these conditions is critical for guiding decisions about pregnancy management, planning clinical interventions, and ensuring that families are better prepared for possible outcomes at birth. Laboratory confirmation of chromosomal abnormalities will enable doctors to explain to parents which organs may be affected, how severe the condition could be, and how symptoms may vary among cases. This information supports personalized care planning and strengthens the quality of genetic counseling offered to families. By conducting this research at two specialized hospitals in Ethiopia, the study will also help build local capacity for prenatal genetic testing and counseling. The data gathered will offer valuable insights into how common these disorders are and provide evidence that can support improvements in national prenatal care and maternal-child health strategies.
What are the goals of the project?
We aim to detect and characterize chromosomal disorders in obstetric cases with fetal anomalies. We will include 300 amniotic fluid samples which will be analyzed using Multiplex Ligation-dependent Probe Amplification (MLPA) to screen for aneuploidies of chromosomes 13, 18, 21, X, and Y, linked to various syndromes (Eid et al., 2022)https://www.sciencedirect.com/.... MLPA will also be used to detect subtelomeric rearrangements, often implicated in unexplained congenital abnormalities (Charalsawadi et al., 2016)https://onlinelibrary.wiley.co..., as well as microdeletion and microduplication syndromes known to underlie various structural and developmental disorders ( Weise et al. (2012)https://journals.sagepub.com/d... . Detected abnormalities will be interpreted in the context of ultrasound findings to support genotype-phenotype correlation. Institutional ethical approval (IRB) for this study is available.
Budget
GeneScan 500 LIZ/ROX is essential for high-resolution DNA fragment analysis. A 24-capillary array enables parallel processing of multiple samples for high-throughput data generation. Sample collection, transport, and printing of consent forms and protocols are necessary for ethical compliance. A basic living stipend will cover essential costs during peak research periods, allowing full-time focus on the study. Licensed bioinformatics tools will be utilized to support the statistical interpretation of Copy Number Variation (CNV) patterns and their potential associations with phenotypic traits in cases of fetal anomalies A streamlined cloud infrastructure will enable secure storage and processing of MLPA datasets, supporting the development of targeted databases and the integration of CNV data with relevant phenotypic information. Publishing in an open-access journal ensures global access to findings and supports improved prenatal care in low-resource settings. |
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Endorsed by
Project Timeline
Data collection will commence once the required funding is secured, focusing on obstetric cases presenting with fetal anomalies. A seven-month experimental phase will utilize MLPA to detect and characterize fetal chromosomal disorders. After MLPA data normalization, cloud computing will enable secure data storage and advanced bioinformatics analysis to uncover genotype–phenotype correlations and potentially novel or atypical phenotypes. The project will conclude by February 2027.
Oct 23, 2023
Initial Proposal Development & Ethical Approval: Developed the project plan and received the initial ethical approval to conduct the research on amniotic fluid specimens.
Jun 03, 2025
Amendment & Ethical Renewal: Made few necessary amendments to the proposal to enhance scientific clarity and relevance, requested & obtained renewed ethical approval.
Jun 03, 2025
Project Launched
Feb 28, 2026
Sample Collection, DNA Extraction & MLPA Experiments: participants selection, pretest counseling ,consenting, amniocenteses, and MLPA analysis.
May 31, 2026
MLPA data entry, phenotype data Logging, cloud computing, bioinformatics analysis, build databases, preliminary report Write-up.
Meet the Team
Affiliates
Affiliates
Team Bio
Dr. Helen Nigussie – Lecturer of genetics and bioinformatics, AAU. LinkedIn | ResearchGate; Dr. Seid Arage (MD) – Maternal-fetal medicine specialist, AAU. LinkedIn | Tenadoc; Dr. Namus Muhajir (MD) – Maternal-fetal medicine specialist, AAU. LinkedIn | ResearchGate; Benyam Zenebe (BSc, MSc) – PhD fellow & principal investigator, AAU. LinkedIn | ResearchGate
Benyam Zenebe Gebreyesus
Benyam Zenebe Gebreyesus is a Ph.D. candidate in Applied Genetics at Addis Ababa University, currently progressing toward the completion of his doctoral studies. He achieved an outstanding first-year academic performance with a GPA of 3.94. Benyam holds an M.Sc. in Applied Genetics and has extensive professional experience in medical laboratory technology, specializing in microbiology and molecular biology. His M.Sc. research focused on isolating pathogenic Escherichia coli strains from pediatric diarrhea cases in children under five, alongside analyzing their antibiotic susceptibility profiles. This work provided important insights into the diversity of pathogenic E. coli strains in Ethiopia and offers valuable implications for national public health strategies. His current project, titled 'Characterizing Fetal Anomalies linked to Chromosomal Abnormalities at Selected Hospitals in Addis Ababa, Ethiopia,' is derived from his dissertation research and addresses a critical gap in prenatal diagnostics. Using MLPA (Multiplex Ligation-dependent Probe Amplification)—a cost-effective yet powerful molecular technique—Benyam aims to elucidate the contribution of chromosomal aberrations to fetal anomalies in the Ethiopian context. His research is further distinguished by the integration of genetic and phenotypic data through advanced bioinformatics tools, reflecting his dedication to innovation and translational impact in medical genetics. Benyam is known for his strong organizational abilities, meticulous methodology, and collaborative spirit. His professors commend his perseverance, academic rigor, and inquisitiveness, while his peers value his effective communication and unwavering determination. His ongoing research promises to significantly enhance the understanding of genetic contributions to developmental disorders in low-resource settings.
Namus Muhajir Nur
linkedin.com/in/namus-muhajir-2118b891
Dr. Namus Muhajir is an Assistant Professor of Obstetrics and Gynecology and a certified Maternal-Fetal Medicine specialist at Addis Ababa University. He completed his subspecialty training in one of Ethiopia’s most demanding medical schools, a testament to his academic rigor and perseverance. Throughout his career, Dr. Namus has worked in a range of healthcare settings—from regional hospitals to premier institutions like Tikur Anbessa Specialized Hospital—giving him a comprehensive understanding of maternal and fetal health across diverse contexts. Widely respected for his strong will, collaborative nature, and deep compassion for his patients, Dr. Namus brings both clinical expertise and heartfelt commitment to this research. He is particularly passionate about advancing the care of pregnancies affected by fetal anomalies. As a key adviser on this project, he ensures that the research is clinically grounded and responsive to the realities faced by families and healthcare providers in Ethiopia.
Dr Seid Arage
https://www.tenadoc.com/doctor...
Dr. Seid Arage is an Assistant Professor of Obstetrics and Gynecology at Addis Ababa University and a Maternal-Fetal Medicine subspecialist with a strong foundation in clinical practice and academic excellence. A graduate of Ethiopia’s leading medical school, Dr. Seid is known for his academic rigor, resilience, and deep commitment to advancing maternal and fetal healthcare in the country. He is a strong advocate for precision medicine and collaborative research across disciplines, believing that breakthroughs in genomic science must be paired with clinical insight to truly impact patient care. As both a dedicated physician and a trusted colleague, Dr. Seid brings a spirit of teamwork and integrity to this project. He is deeply invested in its success, not only as a scientific endeavor but as a meaningful step toward improving outcomes for families affected by fetal anomalies. His determination, professionalism, and cross-disciplinary mindset make him an indispensable contributor to the project’s clinical and transnational goals.
Additional Information
Why This Research Deserves Support
This study addresses a critical gap in prenatal care in low-resource settings, where access to genetic testing is extremely limited. By applying a cost-effective molecular technique (MLPA) to identify chromosomal abnormalities linked to fetal anomalies, the project aims to provide actionable data that can improve early diagnosis and pregnancy management. The value of this research lies not only in its scientific merit but in its potential real-world impact—empowering clinicians, supporting families, and contributing to the development of more accessible prenatal care services in Ethiopia and similar settings. Given its relevance, innovation, and focus on underserved populations, this research is well positioned to attract community-based support through crowdfunding. This project initially received generous support through a donation of MLPA reagents worth €27937 from MRC-Holland (Amsterdam, the Netherlands) and a private laboratory had committed to providing capillary sequencing services without which MLPA data can not be interpreted. However, that commitment could not be fulfilled, creating a significant gap in the project workflow. This challenge was further compounded by the recent devaluation of the Ethiopian birr, which has sharply increased the cost of essential reagents and laboratory services. Despite these setbacks, the research remains both feasible and highly relevant. Crowdfunding has emerged as a practical and timely solution to bridge the funding gap, allowing the project to move forward. The revised budget reflects this reality—prioritizing cost-efficiency while maintaining the scientific integrity and potential impact of the study.
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