Segmental Duplications as a Complement Strategy to Short Tandem Repeats in the Prenatal Diagnosis of Down Syndrome
Journal Title: Iranian Journal of Medical Sciences - Year 2019, Vol 44, Issue 3
Abstract
Background: Quantitative fluorescence-polymerase chain reaction (QF-PCR) is an inexpensive and accurate method for the prenatal diagnosis of aneuploidies that applies short tandem repeats (STRs) as a chromosome-specific marker. Despite its apparent advantages, QF-PCR is not applicable in all cases due to the presence of uninformative STRs. This study was carried out to investigate the efficiency of a method based on applying segmental duplications (SDs) in conjunction with STRs as an alternative to stand-alone STR-based QF-PCR for the diagnosis of Down syndrome. Methods: Fifty amniotic fluid samples from pregnant women carrying Down syndrome fetuses, 9 amniotic fluid samples with 1 or without any informative STR marker (inconclusive), and 100 normal samples were selected from Shiraz, Iran, between October 2015 and December 2016. Analysis was done using an in-house STR-SD-based multiplex QF-PCR and the results were compared. Statistical analysis was performed using MedCalc, version 14. Results: All the normal, Down syndrome, and inconclusive samples were accurately identified by the STR-SD-based multiplex QF-PCR, yielding 100% sensitivity and 100% specificity. Karyotype analysis confirmed all the cases with normal or trisomic results. Conclusion: The STR-SD-based multiplex QF-PCR correctly identified all the normal and trisomy 21 samples regardless of the absence of informative STR markers. The STR-SD-based multiplex QF-PCR is a feasible and particularly useful assay in populations with a high prevalence of homozygote STR markers.
Authors and Affiliations
Mohammad Reza Miri, Jamileh Saberzadeh, Abbas Behzad Behbahani, Mohammad Bagher Tabei, Mohsen Alipour, Majid Fardaei
Keywords
Related Articles
- EP ID EP562897
- DOI -
- Views 72
- Downloads 0
Extranodal Non-Hodgkin’s Lymphoma of the Oral Cavity: A Case Report
Lymphomas are solid malignant tumors having a wide spectrum of clinical and pathological features. Non-Hodgkin’s lymphoma (NHL) is a subtype of lymphoma with two-thirds of the cases presenting as lymph node enlargement....
Tubercular Mycobacterial Spindle Cell Pseudotumour: A Case Report
Pseudotumour is a benign inflammatory lesion. Mycobacterial spindle cell pseudotumour (MSP) is a rare pseudotumour. It is a benign proliferation of spindle-shaped histiocytes containing acid-fast mycobacterium, commonly...
Ascaridial Volvulus: An Uncommon Cause of Ileal Perforation
Ascariasis is a common worm infestation in developing and under-developed countries. It is caused by the ingestion of food contaminated with Ascaris eggs from faeces and is more common in places with poor sanitation. Alm...
Duloxetine by Modulating the Akt/GSK3 Signaling Pathways Has Neuroprotective Effects against Methamphetamine-Induced Neurodegeneration and Cognition Impairment in Rats
Background: The neuroprotective effects of duloxetine, as an antidepressant agent, and the neurodegenerative effects of methamphetamine have been shown in previous studies. Nonetheless, their exact neurochemical and beha...
Morcellation-Induced Leiomyomatosis Peritonealis Disseminata: A Rare Case Report
Leiomyomatosis peritonealis disseminata (LPD) is a benign disease characterized by the presence of multiple small nodules on the omentum, parietal, and visceral peritoneum. It corresponds to leiomyoma and often resembles...