Avicenna J Med Biotech arij002 Avicenna Journal of Medical Biotechnology 2008-2835 2008-4625 Avicenna Research Institute ajmb40467 Detection of Aneuploidies in Products of Conception and Neonatal Deaths in Iranian Patients Using the Multiplex Ligation-Dependent Probe Amplification (MLPA) Khorami SarvestaniSaraRafatiMaryamSoltanghoraeeHalehReproductive Biotechnology Research Center, Avicenna Research Institute, ACECR , Tehran, IranHoseiniAzadehSoltaniAzadehJalilianKooshaGhaffariSaeed Reza 13 3 143 148 5 10 2020 6 2 2021

<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&nbsp; 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>