Abstracts from the 50th European Society of Human Genetics Conference: Electronic Posters

<span title="2018-10-01">2018</span> <i title="Springer Science and Business Media LLC"> <a target="_blank" rel="noopener" href="https://fatcat.wiki/container/pmvuapr27ngvveh4i2dhb3i3ce" style="color: black;">European Journal of Human Genetics</a> </i> &nbsp;
Lastly, the mutation may cause to physical defect on protein and native three dimensional structure. The clinical utility of array comparative genomic hibridization (CGH) in the prenatal samples has been prove to be effective, but it is still in discussion on how to apply array CGH into clinical service, and whether array CGH shold replace the conventional cytogenetics. A total of 118 prenatal samples from patients with abnormal ultrasound were selected, 58 of then were chorionic villus
more &raquo; ... (CVS) and 60 amniocentesis. karyotype and array CGH was performed in all of then. Karyotype was performed according with the giemsa standar thecnique. Array CGH with a 180 K resolution, was performed with the Nimblegen CGX Citogenetic Microarrays Platform, supplied by PerkinElmer. From the 118 cases, in 9 (8,1%) was detected a chromosomal abnormality, but when array CGH was performed, the number of samples with pathogenic chomosomal anomalies increased to 20 (17%), in all cases where a patologic karyotype was detected (9 cases), the array CGH detected the same patologic chromosomal alteration. When karyotype was normal, in 11 cases the array detected microduplications o microdelections that can be considered patologics (CNAs) Our results with an increase in the detection rate are in accordance with previous publications were the patological chomosomal abnormalities detected with array CGH is highly increased when compared with karyoptype. This significantly increased detection of chromosome anomalies, from 8,1 to 17%, after applying microarray analysis for prenatal testing with abnormal ultrasound supports the use of arrays as first tier test for prenatal diagnosis in cases with abnormal ultrasound detected. Introduction: First trimester biochemical screening, using ultrasound, PAPP-A, free β-hCG (DUAL-) was supplemented by PLGF and AFP biomarkers (QUAD strategy) in order to achieve a 98% success rate for the detection of trisomy 21 (T21). We retrospectively compared QUAD vs. DUAL strategies. Material and Methods: Forty-seven T21 pregnancies (ascertained 2008-2016) by the DUAL (Kryptor; ThermoFischer Sci.; USA) were re-examined using QUAD (Delphia Xpress -LifeCycle software; Perkin Elmer; USA) for final risk (FR) and biochemistry only (BO) ascertainment with cut offs-1:300 (positivity) and 1:301-1:2000 (intermediate risk). Biomarker MOM levels, agerelated risk, higher NT were also considered. Results: QUAD FR for 1:300 was detected in 72.34% of all cases, BO in 87.23%, while in DUAL 59.57% and 65.95%, respectively. Integration of FR with BO in QUAD increased positivity to 91.49%, while in DUAL to 74.46%. If 3 cases with QUAD FR 1:337, BO 1:390, age risk 1:77, higher NT and age risk 1:458 had been included, QUAD might achieve 97.87% T21 detection rate. However, if 5 cases with DUAL BO within 1:459-1:810 had been taken into account, this rate would be only 85.10%. QUAD FR in > 1:2000 was 6.38%, while in DUAL it was 19.15%, with BO 6.38%. DUAL achieved lower 21.28% PAPP-A prevalence versus 55.32% in QUAD. Only in one case all makers were normal in QUAD / DUAL. Conclusions: QUAD provides significantly higher detection rate and reliability within 1:300 risk and achieves better screening outcomes than DUAL. Supported by 00064203, CZ.
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