Segmental duplication-quantitative fluorescent-polymerase chain reaction: An approach for the diagnosis of Down syndrome in India
Journal Title: UNKNOWN - Year 2018, Vol 19, Issue 1
Abstract
Objective: Early detection of high-risk pregnancies for Down syndrome (DS) is the main target of offering prenatal diagnosis. Segmental duplication-quantitative fluorescent-polymerase chain reaction (SD-QF-PCR) can be used as an alternative method for prenatal diagnosis of DS. SD-QF-PCR involves SD sequences between the test and control chromosomes to detect aneuploidies. SD are two similar sequences with different fragment lengths, located on two different chromosomes. When these SD regions are amplified, the peak ratio between the two different chromosomes remains as 0.9 to 1.1 and the trisomy 21 results in the ratio of 1.4 to 1.6. Materials and Methods: In this study, we applied SD-QF-PCR to detect the presence of trisomy 21 in 60 age-matched controls and 60 DS samples. The PCR amplification of SD regions is performed using a single pair of fluorescent-labelled primers, the peak ratio between the two different chromosome regions are evaluated. Results: All sixty control samples showed the peaks to range from 0.9 to 1.1, which was suggestive of normal samples, and peaks of 65 DS samples ranged from 1.4 to 1.6, which suggested the presence of trisomy 21. Conclusion: Segmental duplication quantitative fluorescent PCR is a sensitive and rapid aneuploidy detection technique and hence can be used as a standalone test to detect trisomy 21 as well as other aneuploidies.
Authors and Affiliations
Ambreen Asim, Sarita Agarwal
Keywords
Related Articles
- EP ID EP365255
- DOI 10.4274/tjod.56244
- Views 74
- Downloads 0
Microcystic, elongated, and fragmented pattern of invasion in relation to histopathologic and clinical prognostic factors in endometrioid endometrial adenocarcinoma
Objective: To investigate the association of microcystic, elongated, and fragmented (MELF) pattern of invasion with prognostic factors in endometrioid endometrial adenocarcinoma (EEA). Material and Methods: Stained tiss...
Emergency peripartum hysterectomy in the Dubai health system: A fifteen year experience
Objective: To determine the incidence, demographic data, risk factors, indications, outcome and complications of emergency peripartum hysterectomy (EPH) performed in two major tertiary care hospitals in Dubai, and to com...
Does the presence of endometriosis cause a challenge for transvaginal oocyte retrieval? A comparison between patients with and without endometriosis
Objective: The aim of the study was to compare patients with and without endometriosis regarding performance rates, difficulties, and complications associated with transvaginal oocyte retrieval (TVOR) procedures. Materia...
Comparative surgical resection of the ligamentum teres hepatis in a cadaveric model and a patient with ovarian cancer
Resection of all tumor implants with the aim of maximal cytoreduction is the main predictor of overall survival in ovarian carcinoma. However, there are high risk sites of tumor recurrence, and the perihepatic region, es...
Efficacy and safety of post-cesarean section incisional infiltration with lidocaine and epinephrine versus lidocaine alone in reducing postoperative pain: A randomized controlled double-blinded clinical trial
Objective: Aim was to assess the efficacy and safety of incisional infiltration of lidocaine and epinephrine vs. lidocaine only to reduce postcesarean section (C/S) pain. Material and Methods: It was a prospective, rand...