PP-034 The Contribution of molecular cytogenetics to diagnosis and genetic counseling of microdeletional syndromes in neonatal period

Mariem Barka; Oussama Mghirbi; Salma Chaieb; Amani Khelifi; Donia Brahem; Maha Taamli; Aida Ghith; Nassima Soyed; Dorra Hmida; Sonia Nouri; Soumaya Mougou; Nabiha Mahdhaoui

PP-034 The Contribution of molecular cytogenetics to diagnosis and genetic counseling of microdeletional syndromes in neonatal period

Mariem Barka, Oussama Mghirbi, Salma Chaieb, Amani Khelifi, Donia Brahem, Maha Taamli, Aida Ghith, Nassima Soyed, Dorra Hmida, Sonia Nouri, Soumaya Mougou, Nabiha Mahdhaoui

Article info

PP-034 The Contribution of molecular cytogenetics to diagnosis and genetic counseling of microdeletional syndromes in neonatal period. Perinatal Journal 2024;32(2024):27-28 DOI: 10.59215/prn.24.032supp034

Author(s) Information

Mariem Barka¹(Project Initiator, Study Designer, Study Supervisor, Data Collector, Data Analyst, Results Interpreter, Literature Researcher, Manuscript Writer, Final Reviewer)

Oussama Mghirbi¹(Final Reviewer)

Salma Chaieb¹(Final Reviewer)

Amani Khelifi¹(Final Reviewer)

Donia Brahem¹(Final Reviewer)

Maha Taamli¹(Final Reviewer)

Aida Ghith¹(Final Reviewer)

Nassima Soyed¹(Final Reviewer)

Dorra Hmida²(Data Collector, Final Reviewer)

Sonia Nouri¹(Final Reviewer)

Soumaya Mougou²(Final Reviewer)

Nabiha Mahdhaoui¹(Final Reviewer)

Sousse University, Faculty of Medecine of Sousse, Neonatology Department And Neonatal İntensive Care Unit, University Hospital Center Farhat Hached, Sousse, Tunisia
Sousse University, Faculty of Medecine of Sousse, Department of Cytogenetics, Molecular Genetics and Reproductive Biology, University Hospital Center Farhat Hached, Sousse, Tunisia

Correspondence

Mariem Barka, Sousse University, Faculty of Medecine of Sousse, Neonatology Department And Neonatal İntensive Care Unit, University Hospital Center Farhat Hached, Sousse, Tunisia, [email protected]

Publication History

Manuscript Received: May 03, 2024

Manuscript Accepted: May 03, 2024

Publication date: May 18, 2024

Conflicts of Interest

No conflicts declared.

Objective

Microdeletional syndromes are rare genetic pathologies, defined as the presence of loss of small chromosomal fragments (< 5 megabases), not visible on a standard karyotype. These microdeletions are detectable only by the use of molecular cytogenetics, the most commonly used in medical practice being Fluorescent In Situ Hybridization FISH, which locates a specific sequence using a complementary probe of fluorescently-labeled DNA. In most cases, de novo deletions are involved; not transmitted by the parents but linked to a meiotic accident. The aim is to study the clinical and evolutionary features of microdeletional syndromes diagnosed in the neonatal period in the neonatology department of Farhat Hached hospital in Sousse, Tunisia.

Methods

A retrospective, descriptive study of all microdeletional syndromes diagnosed in the neonatology department of Sousse, over a 10-year period (January 2014- December 2023). Diagnostic orientation was essentially clinical, radiological and biological. The molecular genetic study was carried out in the Cytogenetics Department of the same hospital, based on karyotyping with FISH and molecular analysis using multiplex PCR.

Results

We collected 24 cases of microdeletional syndromes, equally distributed between males and females. Diagnosis was made antenatally in 3 cases. Prematurity was found in 7 cases. Signs suggesting a karyotype and molecular study were facial dysmorphia (15 cases), congenital heart disease (13 cases), unexplained hypotrophy (11 cases) and neurological distress (10 cases). The various microdeletional syndromes diagnosed by the FISH technique were, in order of frequency : DiGeorge syndrome (13 cases), Prader Willis syndrome (8 cases), Williams and Beuren syndrome (1 case), 1p36 syndrome (1 case) and cat's cry syndrome (1 case). The molecular alterations observed enabled us to establish a genotype/phenotype correlation between the genetic abnormality and the clinical presentation of our patients.

Conclusion

The contribution of molecular cytogenetics (FISH) is crucial for the investigation of microdeletional syndromes, with the aim of confirming the diagnosis, genetic counseling and management, which is usually multidisciplinary. At the end of this work, we have determined the optimal molecular diagnostic strategy for all microdeletional syndromes that can be diagnosed in the neonatal period, while focusing on the role of genetic counselling and prenatal diagnosis.

Keywords

Microdeletional syndrome, FISH, molecular cytogenetics, genetic counseling.

	File/Dsecription
	Figure 1 Clinical symptomatology
	Figure 2 The microdeletional syndromes diagnosed

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PP-034 The Contribution of molecular cytogenetics to diagnosis and genetic counseling of microdeletional syndromes in neonatal period

Article info

Author(s) Information

Correspondence

Publication History

Conflicts of Interest

Objective

Methods

Results

Conclusion

Keywords