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- W4230759935 abstract "Establish the association between copy number variants from Microarray analysis and their disease phenotype when pregnancies with fetal abnormalities are present. Identify the indications of performing novel molecular tools which are currently being used in the assessment of prenatal genetic diagnosis for pregnant women at KFSH. It is a retrospective cohort study. The electronic medical records were reviewed for all patients who underwent a Prenatal invasive procedure and had a microarray analysis performed to their samples, a total of 422 samples were obtained from 1/5/2018 until 31/12/2019. Abnormal chromosomal anomalies were identified in 99 of the 422 (23.46%) of the tested samples. The most common chromosomal anomalies found were Trisomy 21 (28.28%), Trisomy 18 (18.18%), Turner syndrome (7.07%), Trisomy 13 (4.04%). The most common indications to perform the test were fetal abnormalities on ultrasound (45.73%), advanced maternal age (31.76%), and early ultrasound with a thick nuchal translucency (12.8%). Microarray analysis has become the gold standard for Prenatal diagnosis in pregnancies with suspicion of a chromosomal abnormality. Our study have shown a high yield while using Microarray analysis which greatly improves patient care from the time of diagnosis to antenatal management and plan of delivery. The indications with most clinical significance are those which have abnormal ultrasound findings mainly the presence of cystic hygroma and the presence of combined anomalies from different systems, and only when combined with a thick nuchal translucency does advanced maternal age appear to have a significant yield in diagnosis. Supporting information can be found in the online version of this abstract Supporting Information Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article." @default.
- W4230759935 created "2022-05-11" @default.
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- W4230759935 date "2020-10-01" @default.
- W4230759935 modified "2023-09-26" @default.
- W4230759935 title "VP06.12: The use of microarray analysis for prenatal diagnosis in King Faisal Specialist Hospital" @default.
- W4230759935 doi "https://doi.org/10.1002/uog.22424" @default.
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