Detection of Aneuploidies in Products of Conception and Neonatal Deaths inIranian Patients Using the Multiplex Ligation-Dependent Probe Amplification (MLPA)

Background: around 70% of all pregnancies (including 15% of clinically-recognizedones) are lost due to various fetal or maternal disorders. chromosomal aneuploidiesare among the most common causes of pregnancy loss. standard chromosome analysisusing g-banding technique (karyotype) is the technique of choice in studying suchabnormalities; however, this technique is time-consuming and sensitive, and limitedby vulnerabilities such as cell culture failure. the use of molecular cytogenetic techniques,including array-based techniques and multiplex ligation-dependent probeamplification (mlpa), has been proposed to overcome the limitations of this methodto study the products of conception. this study has been designed to investigate thefeasibility of using mlpa technique as a standalone genetic testing, with histopathologicexaminations and genetic counseling to detect aneuploidies in products of conceptionand neonatal deaths.methods: forty-two verified fetal and neonatal samples were studies and geneticcounseling was scheduled for all parents. histopathologic examinations were carriedout on the products of conception, and appropriate fetal tissues were separated forgenetic studies. following dna extraction and purification, mlpa was carried out toinvestigate chromosomal aneuploidies.results: nine samples (21.42%) were diagnosed to be affected with aneuploidy. detectedaneuploidies 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 resultswere conclusive for all of the fetal samples (success rate: 100%).conclusion: these results suggest that mlpa, as a standalone genetic testing, is an accurate,rapid, and reliable method in overcoming the limitations of standard cytogenetictechniques in genetic investigation of products of conception.