Medicine
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This repository contains the published and unpublished research of the Faculty of Medicine by the staff members of the faculty
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Item Evaluation of the proportion of Genetic Disorders detected at prenatal testing in a Tertiary fetal medicine referral centre(Sri Lanka College of Obstetricians & Gynaecologists, 2017) Padeniya, A. G. P. M.; Dias, T. D.; Punchihewa, C.OBJECTIVE: Prenatal suspicion of fetal chromosomal aneuploidies is the most common indication for invasive prenatal testing. Amniocentesis followed by genetic testing for chromosomal aneuploidies is the diagnostic technique for prenatal detection of chromosomal disorders. Prenatal detection of these disorders would enable timely medical or surgical treatment of a condition before or after birth. It further “prepare” the family psychologically, socially, financially, andmedically of a baby with a health problem or disability or for the likelihood of a still birth. The objective of this study was to evaluate the proportion of genetic disorders detected at prenatal testing procedures at a Tertiary Fetal Medicine referral centre.METHODS: A retrospective study was carried out from 2016 October to 2017 April in all invasive procedures done in the Fetal Medicine Unit, Ninewells Care Mother & Baby hospital, Colombo, Sri Lanka. Prenatal samples were analyzed by Fluorescent in situ hybridization for the common chromosomal aneuploidies including chromosome number 13, 18, 21, X andY and by karyotype. Patient information and details of invasive procedures were obtained from the Fetal Medicine Unit database. RESULTS: A total of 57 prenatal examinations was performe during the study period of which 55 were amniocentesis and 02 were cordocentesis procedures. The mean maternal age at which the procedure was performed was 33 years(SD=6.3). The commonest indication for the prenatal testing was increased nuchal translucency (NT) thickness (27) detected at the NT scan. The other common indications for prenatal detection were atrioventricular septal defect (5), omphalocoele (4), nonimmunehydrops (3) and Diaphragmatic hernia (2) detected at the second trimester scan. There were 3 who had elevated double test and1 with increased Non Invasive Prenatal test result which directed them for prenatal testing. Chromosomal abnormalities were detected in 13 fetuses of which majority were Trisomy 18 (5). Trisomy 21 and Trisomy 13 syndromes were detected in 4 and 3 fetuses respectively. Of the 27 fetuses who had elevated NT thickness, 4 fetuses were Trisomy 21. Fetuses who had structural abnormalities 4 had Trisomy 18 syndrome. There was one which had Trisomy 21 mosaic syndrome and one with Turner mosaic syndrome. CONCLUSION: Testing for diseases or conditions in a fetus/embryo by an invasive method before it is born would enable the doctors to improve the outcome of the developing fetus/embryo hence prepare the family for an anticipated problemItem Surveillance of final outcome of in vitro fertilization using pre-implantation genetic screening in Sri Lanka: an observational study(Sri Lanka College of Obstetricians & Gynaecologists, 2018) Abayasekara, M.; Gnanam, V.; Helaruwan, P. K.; Padeniya, A. G. P. M.INTRODUCTION AND OBJECTIVES: Chromosome abnormalities are well-established as one of the major factors for failed implantation in in-vitro fertilization (IVF) treatment. Pre-implantation genetic screening (PGS) as a method for assessing embryo's karyotype has been used in screening chromosome aneuploidies. It is increasingly being utilized in IVF centres worldwide. Since the first introduction of PGS in 1990, PGS has evolved from PCR based technique to FISH (Fluorescent In-Situ Hybridization) to finally Next Generation Sequencing (NGS) base platform. IVF has been available in Sri Lanka since the late 1990’s; however, commercial PGS services have only become available as recently as January 2018.Therefore, the objective of this study was to evaluate the chromosomal aneuploidies of IVF embryos sent for PGS analysis by a single IVF centre and to co-relate euploid embryos with their clinical pregnancies.METHODS: Embryos were biopsied at the blastocyst stage in WISH Fertility and IVF Clinic at the 3rd day of post fertilization. One to ten cells were isolated, washed and prepared for screening using the Ion ReproSeqTM PGM kit according to manufacturer’s instructions. DNA from each embryo was barcoded and then sequenced on the IonTM Personal Genome Machine using 316 chip. Sequencing data generated was analyzed using Ion ReporterTM software. Retrospective study was carried out in all embryos sent for PGS analysis at the Credence Genomics Pvt. Ltd. diagnostic laboratory between January 2018 and May 2018. Outcome information was collected from the WISH Fertility and IVF Clinic following embryo transfer. RESULTS: A total of 101 embryos were screened for chromosomal abnormalities prior to implantation. Thirty two embryos were found to have no aneuploidies and were suitable for implantation. Of the 32 normal embryos 23 embryos have been transferred to date. Clinical pregnancies were reported from 12 transferred embryos, giving a success rate of approximately 52.17% (12/23).CONCLUSION: It is widely reported that the conventional success rate for IVF ranges from 20-45% depending on the mother's age. As viability of embryos depends heavily on chromosomal copy number and stability, the use of PGS leads to an increase in success rate. As shown in this study, PGS is commercially available in Sri Lanka and can increase success rate for implantation up to 52%.