Congenital Diaphragmatic Hernia with Mosaicism Level 1 of Chromosomes 17q and 18q A Case Report

Case Report

Congenital Diaphragmatic Hernia with Mosaicism Level 1 of Chromosomes 17q and 18q A Case Report

Garrido Ruiz ^*

Department of Cell and Molecular Biology, Faculty of Chemistry, University of Kashan, Brazil.

*Corresponding Author: Garrido Ruiz, Department of Cell and Molecular Biology, Faculty of Chemistry, University of Kashan, Brazil.

Citation: Ruiz G. (2025). Congenital Diaphragmatic Hernia with Mosaicism Level 1 of Chromosomes 17q and 18q A Case Report. Academic Journal of Clinical Research and Reports, BioRes Scientia Publishers. 1(1):1-11. DOI: 10.59657/brs.25.ajcrr.011

Copyright: © 2025 Garrido Ruiz, this is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

Received: November 11, 2024 | Accepted: December 30, 2024 | Published: January 04, 2025

Abstract

This abnormality is caused by multiple factors, including both genetic and environmental components, and can also be associated with several syndromes. Among the chromosomal abnormalities associated with CDH, trisomy 21, 18, and 13 are the most common. Also, complex chromosomal aberrations such as mosaicism have been reported. We present a case of prenatally diagnosed CDH with level 1 mosaicism of chromosomes 17q and 18q in a 34-year-old Iranian woman. The diagnosis was made at 16 weeks of gestation using ultrasound and confirmed by amniocentesis.

Keywords: prenatal diagnosis; mosaicism; amniocentesis; genetic testing

Introduction

Its characteristics include hyperplasia, blood pressure after birth due to vascular remodeling, and cardiac dysfunction [1,2]. CDH occurs in approximately 2.3 out of every 10,000 live births in Europe and 3.2 out of every 10,000 live births in the USA and may be detected before birth, at birth, or in some cases only in later infancy [3,4]. The mortality rate in these patients varies between 20% and 40% [5]. The etiology of CDH remains largely unclear, and it is generally believed to be influenced by a variety of factors [6]. These factors include genetic components [7], environmental exposure, and nutritional insufficiencies, which have been suggested as potential causes for the development of CDH [6]. The following case report presents a case of CDH with mosaicism level 1 of chromosomes 17q and 18q that was detected prenatally.

Case Report

A healthy, 34-year-old Iranian female patient presented herself at a hospital during her 16th week of pregnancy, accompanied by an ultrasound scan that revealed a fetal diaphragmatic hernia. This couple was already parents to a healthy 8-year-old daughter and had no history of miscarriage or genetic family diseases. At the beginning of her pregnancy, the mother was hospitalized for seven days due to influenza with a fever. In the first trimester of pregnancy, the mother underwent screening, which yielded normal results according to the table below. It is worth noting that the risk of Down Syndrome and trisomy 18 in this patient is lower than the screening cut-off (Table 1).

Table 1: Clinical Results Screening at the end of the twelfth week. The results are normal. The risk of Down syndrome is LESS than the screening cut-off. The risk of Trisomy 18 is LESS than the screening cut-off.

Clinical Results
Assay	Results	Mom
PAPP-A †	3.80 mlU/mL	1.50
Free β-hCG	49.10 ng/mL	1.26
NT ††	1.40mm	1.20
Risk Assessment (at term)
Down Syndrome	1:4110
Age alone	1:473
Equivalent Age Risk	<15>
Trisomy 18/13	1:99000

† PAPP-A, Pregnancy-associated plasma protein A; †† NT, Nuchal Translucency

A prenatal ultrasound examination was conducted during the 16th week of pregnancy to assess the fetal anomalies. The fetal biometric measurements indicated a biparietal diameter of 37mm, a head circumference of 110mm, a femur length of 22mm, amniotic fluid level of 84mm, fetal heart rate of 149 beats per minute, and an estimated fetal weight of 170g. Additionally, all fetal soft markers for trisomy were normal, and no gross anomalies were observed. However, a left-sided diaphragmatic hernia containing the stomach and no umbilical cord was detected, along with abdominal wall defects. As a result, the patient decided to undergo amniocentesis for genetic analysis. Amniocentesis was carried out. In fetal karyotype analysis, 1.5% of cells were found to have 46 chromosomes, including an isochromosome 17q, 1.5% of cells had 46 chromosomes with an isochromosome 18q, and 97% of cells had 46 normal male chromosomes (with monosomy 17p and trisomy 17q in some cells, and monosomy 18p and trisomy 18q in other cells). This indicates a mosaicism level of 1 for isochromosomes 17q and 18q. It is important to note that the percentages mentioned may differ in other tissues and could potentially lead to noticeable symptoms. This case may be unique in another pregnancy, but there is a possibility of a genetic condition. Therefore, it is recommended to examine the chromosomal changes and gene mutations in this instance. The recommendation for the couple's karyotype was put forth, and both karyotypes were found to be typical. Nevertheless, the pregnancy was not terminated. At the 28th week ultrasound, the left-sided fetal diaphragmatic hernia was again observed, along with an amniotic fluid level of 162mm, which indicated polyhydramnios. The cytomegalovirus IgG and toxoplasma IgG tests for the mother revealed values of 31 and 57, respectively. These values are considered high. The infant was born at 38 weeks' gestation and was unfortunately stillborn.

Discussion

As mentioned, CDH is a multifactorial condition for which the environmental and genetic contributions have not yet been fully elucidated [6, 7]. Advanced maternal age increases the risk of chromosomal anomalies, which are estimated to affect 10% of CDH cases. Additionally, young maternal age is associated with smoking, alcohol use, pregestational diabetes, maternal underweight, and delay in antenatal care. Additionally, young maternal age is associated with smoking, alcohol use, pregestational diabetes, maternal underweight, and delay in antenatal care [7, 8]. Low-level mosaicism of the co-occurrence of isochromosome 17q and 18q has not been reported in the literature to date. However, there are a few reports that suggest the implication of chromosome 18 dosage imbalance in the formation of diaphragmatic hernia in fetuses [19, 20].

Conclusion

It was noted that the precise cause of CDH remains unidentified. Given the life-threatening nature of this condition, efforts are being made to improve the prognosis rate before birth.

Declarations

Conflict of Interest Statement

The author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Ethical Approval and Consent to participate

Notapplicable

Consent for Publication

Not applicable

Availability of supporting data

Not applicable

Competing interests

The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.

Funding

Not applicable

Acknowledgments

Not applicable

References

Zani, A., Chung, W. K., Deprest, J., Harting, M. T., Jancelewicz, et al. (2022). Congenital diaphragmatic hernia. Nature Reviews Disease Primers, 8(1):37.
Publisher | Google Scholor
Brosens, E., Peters, N. C., van Weelden, K. S., Bendixen, C., Brouwer, et al. (2022). Unraveling the genetics of congenital diaphragmatic hernia: an ongoing challenge. Frontiers in pediatrics, 9:800915.
Publisher | Google Scholor
Politis, M. D., Bermejo-Sánchez, E., Canfield, M. A., Contiero, P., Cragan, J. D., et al. (2021). Prevalence and mortality in children with congenital diaphragmatic hernia: a multicountry study. Annals of epidemiology, 56:61-69.
Publisher | Google Scholor
Aia, V. O., Pavarino, E., Guidio, L. T., de Souza, J. P. D., Ruano, et al. (2022). Crossing birth and mortality data as a clue for prevalence of congenital diaphragmatic hernia in Sao Paulo State: A cross sectional study. The Lancet Regional Health–Americas, 14.
Publisher | Google Scholor
Malowitz, J. R., Hornik, C. P., Laughon, M. M., Testoni, D., Cotten, C. M., et al. (2015). Management practice and mortality for infants with congenital diaphragmatic hernia. American journal of perinatology, 32(09):887-894.
Publisher | Google Scholor
Chandrasekharan, P. K., Rawat, M., Madappa, R., Rothstein, D. H., & Lakshminrusimha, S. (2017). Congenital diaphragmatic hernia–a review. Maternal health, neonatology and perinatology, 3:1-16.
Publisher | Google Scholor
Peppa, M., De Stavola, B. L., Loukogeorgakis, S., Zylbersztejn, A., Gilbert, R., et al. (2023). Congenital diaphragmatic hernia subtypes: Comparing birth prevalence, occurrence by maternal age, and mortality in a national birth cohort. Paediatric and Perinatal Epidemiology, 37(2):143-153.
Publisher | Google Scholor
Mesas Burgos, C., Ehrén, H., Conner, P., & Frenckner, B. (2019). Maternal risk factors and perinatal characteristics in congenital diaphragmatic hernia: a nationwide population-based study. Fetal diagnosis and therapy, 46(6):385-391.
Publisher | Google Scholor
Cannata, G., Caporilli, C., Grassi, F., Perrone, S., & Esposito, S. (2021). Management of congenital diaphragmatic hernia (CDH): role of molecular genetics. International Journal of Molecular Sciences, 22(12):6353.
Publisher | Google Scholor
Basurto, D., Russo, F. M., Van der Veeken, L., Van der Merwe, J., Hooper, S., et al. (2019). Prenatal diagnosis and management of congenital diaphragmatic hernia. Best Practice & Research Clinical Obstetrics & Gynaecology, 58:93-106.
Publisher | Google Scholor
Cordier, A. G., Russo, F. M., Deprest, J., & Benachi, A. (2020, February). Prenatal diagnosis, imaging, and prognosis in congenital diaphragmatic hernia. In Seminars in perinatology, 44(1):51163.
Publisher | Google Scholor
Chen, K. K., & Edwards, M. J. (2023). Delayed presentation of a right congenital diaphragmatic hernia following left congenital diaphragmatic hernia repair in infancy. International Journal of Surgery Case Reports, 105:108020.
Publisher | Google Scholor
Anekar, A. A., Nanjundachar, S., Desai, D., Lakhani, J., & Kabbur, P. M. (2021). Case report: late-presenting congenital diaphragmatic hernia with tension gastrothorax. Frontiers in Pediatrics, 9:618596.
Publisher | Google Scholor
Amodeo, I., Borzani, I., Raffaeli, G., Persico, N., Amelio, G. S., et al. (2022). The role of magnetic resonance imaging in the diagnosis and prognostic evaluation of fetuses with congenital diaphragmatic hernia. European journal of pediatrics, 181(9):3243-3257.
Publisher | Google Scholor
Dumpa, V., & Chandrasekharan, P. (2023). Congenital Diaphragmatic Hernia. StatPearls Publishing.
Publisher | Google Scholor
Losanoff, J. E., & Sauter, E. R. (2004). Congenital posterolateral diaphragmatic hernia in an adult. Hernia, 8:83-85.
Publisher | Google Scholor
Burgos, C. M., Gupta, V. S., Conner, P., Frenckner, Congenital Diaphragmatic Hernia Study Group, et al. (2023). Syndromic congenital diaphragmatic hernia: Current incidence and outcome. Analysis from the congenital diaphragmatic hernia study group registry. Prenatal Diagnosis, 43(10):1265-1273.
Publisher | Google Scholor
Wynn, J., Yu, L., & Chung, W. K. (2014). Genetic causes of congenital diaphragmatic hernia. In Seminars in Fetal and Neonatal Medicine, 19(6):324-330.
Publisher | Google Scholor
Strenge, S., & Froster, U. G. (2004). Diaphragmatic hernia in 18p‐syndrome. American Journal of Medical Genetics Part A, 125(1):97-99.
Publisher | Google Scholor
Zayed, H., Chao, R., Moshrefi, A., LopezJimenez, N., Delaney, et al. (2010). A maternally inherited chromosome 18q22.1 deletion in a male with late‐presenting diaphragmatic hernia and microphthalmia–evaluation of DSEL as a candidate gene for the diaphragmatic defect. American Journal of Medical Genetics Part A, 152(4):916-923.
Publisher | Google Scholor

Delia Teresa Sponza

"Journal of BioMed Research and Reports has created a diverse portfolio in peer review process and provides a wide range scientific and medical novel papers to the scientists. This journal publishes high-quality, peer-reviewed content across all levels of professional development and corporate research and development."

Fatema Tashrifwala

I would like to thank the editorial team for their timely responses and consideration in the publication of my paper. They have been very helpful and accommodating, Lastly, being an open access journal, the published work is freely available and accessible to readers at no cost to them. I would encourage other authors to publish their research in BioRes Scientia. I am happy to be a part of BioRes Scientia Publishers.

Dr Nikhil Vitthal Dayama

I would like to thank the editorial team for their timely and prompt responses and consideration in the publication of my case report. Being an open access journal, it will be great help for the readers to learn the new things without any cost. I would encourage the authors to publish their research in BioRes Scientia and I am happy to be part of this journal.

Boubacar Ahy Diatta

I warmly thank the editorial team for the excellent work they do for continuing medical education in Dermatology. I was able to discover with joy their professionalist, their support and above all appreciate their social generosity on the access to the magazines which is free. This allows an update of scientific knowledge to the entire scientific community. I gladly recommend authors for publication in this journal.

Professor Rajko Igic

The editor of JBRR helped me during the whole process, mainly to eliminate some typographical and other errors. It hastened this publication to be published quickly. Although it is a short text, I believe that the content is important for all medical and other scientific disciplines because eventual addition of the iC citations to citation of the paper would lead to proper assessment of the author's contribution.

Dr Tewodros kassahun Tarekegn

I am thrilled to have had the opportunity to publish my research article in this prestigious journal. The entire process of peer review and publication support provided by the editorial office was exceptional, and it fortified my belief in the quality of my research study. The rigorous peer review process ensured that only the highest quality research was published, and the feedback from the reviewers was extremely helpful. I appreciate the journal's commitment to open access publication, enabling my research to reach a wider audience. The easy-to-use online platform streamlined the submission, peer review, and publication process, and I would confidently recommend this journal to any author looking for efficient, rigorous, and high-quality peer-reviewed publication.

Francis Okello Ooko

I was impressed by your author-centred approach whereby you maintained constant and timely communication with us from the time we submitted the manuscript to acceptance, each time providing critical suggestions to improve the manuscript. In addition, we are encouraged by the thoroughness of your editorial team in checking the originality and overall, quality of the work. Which I believe is very encouraging to other researchers and authors who wish to publish their work in your journals. The published work and the information imparted is freely available and accessible to a wide spectrum of readers at no cost to them. I would encourage other authors to publish their research in BioRes Scientia. I am happy to be a part of BioRes Scientia Publishers.

Dr Nidhi Sapolia

I would like to thank the editorial team of their timely response and guidance in the publication of my case report. They have been extremely helpful at all stages. Being an open access journal, it is of great help for the readers to learn new experiences in different fields, I would highly recommend this journal to authors for high quality peer-reviewed publications.

Dwight L Mckee MD CNS ABIHM

I am very impressed by the high quality of the papers published by the International Journal of Clinical and Molecular Oncology. The editors of this journal are a pleasure to work with, as they are highly responsive even to numerous last minute changes in the manuscript that I recently published with them, and the changes are made on-line the same day they are received. I highly recommend this journal to anyone working in the oncology field, and also value it as a source of cutting edge information in the field.

Kyaw Swar Thet

I would like to thank the editorial team for the opportunity to publish our case report in this prestigious journal. I am very impressed by their timely and efficient handling of the submission, peer review, and publication processes. As residents of a developing, low-income country, we greatly appreciate the discount on submission charges. I hope that as an open access journal, it will facilitate easy access for readers to update their scientific knowledge. I highly recommend this journal for high-quality, peer-reviewed publications. I express my sincere gratitude to the editorial team for their excellent work.

Michel Farah

I would like to thank the editorial team for their quick response and support. The publication support and editorial office were excellent and very helpful. I am happy to have my research article published in this prestigious journal. Our previous case report published in this journal was very successful and viewed by many physicians worldwide.

Kristina Dimitrijevic

I am very positively surprised by thе International Journal of Biomedical and Clinical Research, as well as by the review process itself, which is carried out in a high-quality, timely and professional manner. I am glad that my articles are part of this journal.

Hamid Kasim

I had the pleasure of working with your esteemed journal. I testify that the peer review process was effective and quick, the support from the editorial office is very professional, respectful and friendly and the quality of the review is objective and accurate. I am grateful for the opportunity to work with International Journal of Biomedical & Clinical Research and looking forward for more future cooperation.

Ochala Ejura J

The interaction with the Journal of Women Health Care and Gynaecology has been seamless. I wish to express my profound appreciation to your expert editorial team for the timely response and support. The feedbacks from the peer review process was of great help. Thank you for the discount and opportunity to publish in your reputable journal. I believe that being an Open access journal, it will enable readers easy access to to update their knowledge. I would recommend BioRes Scientia publishers and look forward to more collaborations.

Fernando M Clara

I would like to thank the Journal of Clinical Cardiology and Cardiology Research for the opportunity to publish our work. We greatly appreciate the professionalism demonstrated throughout the editorial process. The rapid peer review, along with the high-quality graphic design, streamlined the process and significantly improved the final presentation of our manuscript. The Journal’s support for scientific dissemination is a meaningful incentive for ongoing research. We commend your editorial efforts and extend our best wishes for the Journal's continued success.

Dr Stylianos Sergios Chatziioannou

Journal of BioMed Research and Reports process was constructive and timely, ensuring that the scientific rigor of the manuscript was upheld. Communication with the editorial office was smooth and supportive throughout, making the overall publication experience very positive. I appreciate the efforts of the editorial team in maintaining high-quality standards, and I am confident that the journal will continue to grow in impact and recognition.

Dr C Zeroual

I am pleased to have worked with the Journal of Brain Research and Neurology. The editorial team was responsive and supportive throughout the process, and the peer review was handled efficiently. I appreciate the opportunity to contribute to this journal and look forward to future collaborations

Mohammadreza Kashefi Baher

I am pleased to have published my research in Dentistry and Oral Health Care. The peer review process was efficient and respectful, and I appreciated the timely communication and support from the editorial team. The journal maintains a professional standard and provides an accessible platform for sharing scientific work. I am grateful for the opportunity and look forward to contributing again in the future.

Cidalia De Fatima Cabral De Frias

I would like to thank the editorial team of International Journal of Biomedical and Clinical Research for their prompt and timely responses during the review process of my article. I had the opportunity to share with the academic community my understanding of the process of caring for a person at the end of life. I recommend the publication of research in the area of palliative care in this prestigious journal.

Roxana Maria Hoza

The peer review process at Hematology Research and Blood Disorders is fair and constructive. The editorial office provides excellent support and timely communication. The journal maintains high quality and is a trusted platform for hematology research.

Dr Hamid Kasim

I was very pleased to collaborate with your esteemed Journal of BioMed Research and Reports, and I also thank the editorial board and the reviewers who enriched my article with their very helpful comments, resulting in a beautiful and elegant presentation. I hope our collaboration will continue in the future, With my respect and best wishes for your continued success.