MLPA as a genetic assay for the prenatal diagnosis of common aneuploidy: the first Egyptian experience

Ola M Eid; Maha M Eid; Marwa Farid; Rania M A Abdel Kader; Rana Mahrous; Sara H El-Dessouky

doi:10.1186/s43141-022-00402-8

MLPA as a genetic assay for the prenatal diagnosis of common aneuploidy: the first Egyptian experience

J Genet Eng Biotechnol. 2022 Jul 28;20(1):112. doi: 10.1186/s43141-022-00402-8.

Authors

Ola M Eid¹, Maha M Eid², Marwa Farid², Rania M A Abdel Kader², Rana Mahrous², Sara H El-Dessouky³

Affiliations

¹ Departments of Human Cytogenetics, National Research Centre, El Bohouth Street, Dokki, Cairo, 12311, Egypt. olameid@hotmail.com.
² Departments of Human Cytogenetics, National Research Centre, El Bohouth Street, Dokki, Cairo, 12311, Egypt.
³ Prenatal Diagnosis & Fetal Medicine, National Research Centre, El Bohouth Street, Dokki, Cairo, 12311, Egypt.

Abstract

Background: The prenatal diagnosis of syndromes caused by chromosomal abnormality is a long-established part of obstetric care. Several DNA-based molecular approaches have provided rapid prenatal diagnosis of of cytogenomic abnormalities. MLPA has become available for rapid aneuploidy detection of the most common chromosome abnormalities.

Objectives: The aim of this study is to introduce the MLPA technique as a method for the prenatal detection of aneuploidy in Egypt by its validation compared to the FISH technique.

Methods: Fifty AF samples were collected for this study and were subjected to MLPA and FISH assays to detect the most common prenatal chromosomal abnormality.

Results and conclusions: Our study confirmed previous reports that MLPA is analogous to FISH for detecting common aneuploidies and could be a quick and dependable tool for prenatal diagnosis. Therefore, initial prompt testing of AF samples for the copy number of the most common occurring aneuploidies is recommended.

Keywords: Aneuploidy; FISH; MLPA; Prenatal diagnosis.