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2008-2835
2008-4625
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>2021
>July-September
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Detection of Aneuploidies in Products of Conception and Neonatal Deaths in Iranian Patients Using the Multiplex Ligation-Dependent Probe Amplification (MLPA)
<p style="text-align:justify"><span style="font-size:11pt"><span style="font-size:9.5pt">Background:</span><span style="font-size:10.0pt"> Around 70% of all pregnancies (Including 15% of clinically-recognized ones) are lost due to various fetal or maternal disorders. Chromosomal aneuploidies are among the most common causes of pregnancy loss. Standard chromosome analysis using G-banding technique (Karyotype) is the technique of choice in studying such abnormalities; however, this technique is time-consuming and sensitive, and limited by vulnerabilities such as cell culture failure. The use of molecular cytogenetic techniques, including array-based techniques and Multiplex Ligation-Dependent Probe Amplification (MLPA), has been proposed to overcome the limitations of this method to study the products of conception. This study has been designed to investigate the feasibility of using MLPA technique as a standalone genetic testing, with histopathologic examinations and genetic counseling to detect aneuploidies in products of conception and neonatal deaths.</span></span></p>
<p style="text-align:justify"><span style="font-size:11pt"><span style="font-size:9.5pt">Methods:</span><span style="font-size:10.0pt"> Forty-two verified fetal and neonatal samples were studies and genetic counseling was scheduled for all parents. Histopathologic examinations were carried out on the products of conception, and appropriate fetal tissues were separated for genetic studies. Following DNA extraction and purification, MLPA was carried out to investigate chromosomal aneuploidies. </span></span></p>
<p style="text-align:justify"><span style="font-size:11pt"><span style="font-size:9.5pt">Results:</span><span style="font-size:10.0pt"> Nine samples (21.42%) were diagnosed to be affected with aneuploidy. Detected aneuploidies were trisomy 22 (n=3), trisomy 21(n=1), trisomy 18 (n=2), trisomy 16 (n=1), trisomy 13 (n=1), and monosomy of chromosome X (n=1). The MLPA analysis results were conclusive for all of the fetal samples (Success rate: 100%). </span></span></p>
<p style="text-align:justify"><span style="font-size:11pt"><span style="font-size:9.5pt">Conclusion:</span><span style="font-size:10.0pt"> These results suggest that MLPA, as a standalone genetic testing, is an accurate, rapid, and reliable method in overcoming the limitations of standard cytogenetic techniques in genetic investigation of products of conception.</span></span></p>
Aneuploidy, Conception, Perinatal deaths
143
148
https://www.ajmb.org/En/Article.aspx?id=40467
https://www.ajmb.org/PDF/En/FullText/40467.pdf
SaraKhorami SarvestaniReproductive Immunology Research Center, Avicenna Research Institute, Academic Center for Education, Culture and Research (ACECR), Tehran, Iran61756
MaryamRafatiReproductive Biotechnology Research Center, Avicenna Research Institute, ACECR, Tehran, Iran, Tehran, Iran61762
HalehSoltanghoraeeFetal Health Research Center, Hope Generation Foundation, Tehran, Iran39
AzadehHoseiniFetal Health Research Center, Hope Generation Foundation, Tehran, Iran61758
AzadehSoltaniAvicenna Fertility Center, Avicenna Research Institute, ACECR, Tehran, Iran61759
KooshaJalilianDepartment of Cellular and Molecular Biology, Faculty of Biological Sciences, Kharazmi University, Tehran, Iran61760
Saeed RezaGhaffari61761