Matches in SemOpenAlex for { <https://semopenalex.org/work/W2000417995> ?p ?o ?g. }
- W2000417995 endingPage "232" @default.
- W2000417995 startingPage "218" @default.
- W2000417995 abstract "The aim of this article is to provide a perspective of prenatal chromosomal diagnosis (PCD) derived from a single center's evolving experience from ∼90,000 consecutive prenatal cases and to highlight important issues and current dilemmas.Prenatal cases in this study (1985-2013) were referred for various indications, and PCD was performed by standard karyotype in 84,255 cases, multiplex ligation-dependent probe amplification (MLPA) panel in 3,010 cases and standalone array comparative genomic hybridization (aCGH) in 3,122 cases.Classic karyotype revealed 1.7 and 7.9% of pathological cases in amniotic fluid and CVS samples, respectively, with common aneuploidies accounting for 59.6 and 64.3% of the total abnormal. Molecular approaches increased the diagnostic yield by 0.6% for MLPA and 1.6% for aCGH, uncovering pathogenic chromosomal abnormalities undetectable by karyotype analysis.Current molecular diagnostic capabilities and the recent introduction of noninvasive prenatal testing (NIPT) point to one current major dilemma in PCD, with serious implications in genetic counseling, relating on the one hand to reaping the benefits from the high detection rate afforded through aCGH but accepting an invasive risk, and on the other hand, offering a lower detection rate practically only for Down syndrome, with minimal invasive risk." @default.
- W2000417995 created "2016-06-24" @default.
- W2000417995 creator A5005449275 @default.
- W2000417995 creator A5068914374 @default.
- W2000417995 creator A5080546178 @default.
- W2000417995 date "2015-01-01" @default.
- W2000417995 modified "2023-09-26" @default.
- W2000417995 title "Dilemmas in Prenatal Chromosomal Diagnosis Revealed Through a Single Center's 30 Years' Experience and 90,000 Cases" @default.
- W2000417995 cites W1613192006 @default.
- W2000417995 cites W1691755176 @default.
- W2000417995 cites W1742188094 @default.
- W2000417995 cites W1809088741 @default.
- W2000417995 cites W1896227630 @default.
- W2000417995 cites W1919076226 @default.
- W2000417995 cites W1967488977 @default.
- W2000417995 cites W1967882786 @default.
- W2000417995 cites W1969211599 @default.
- W2000417995 cites W1969828337 @default.
- W2000417995 cites W1983118329 @default.
- W2000417995 cites W1989248101 @default.
- W2000417995 cites W2003063028 @default.
- W2000417995 cites W2008478368 @default.
- W2000417995 cites W2013613602 @default.
- W2000417995 cites W2018594718 @default.
- W2000417995 cites W2022206971 @default.
- W2000417995 cites W2041451197 @default.
- W2000417995 cites W2042603097 @default.
- W2000417995 cites W2043717817 @default.
- W2000417995 cites W2057983845 @default.
- W2000417995 cites W2062393611 @default.
- W2000417995 cites W2068691653 @default.
- W2000417995 cites W2074124939 @default.
- W2000417995 cites W2074568081 @default.
- W2000417995 cites W2074678889 @default.
- W2000417995 cites W2076743789 @default.
- W2000417995 cites W2082481815 @default.
- W2000417995 cites W2091695435 @default.
- W2000417995 cites W2091991690 @default.
- W2000417995 cites W2110173390 @default.
- W2000417995 cites W2120295874 @default.
- W2000417995 cites W2121761835 @default.
- W2000417995 cites W2123894796 @default.
- W2000417995 cites W2125053440 @default.
- W2000417995 cites W2132469628 @default.
- W2000417995 cites W2138442665 @default.
- W2000417995 cites W2144280110 @default.
- W2000417995 cites W2144967747 @default.
- W2000417995 cites W2152541525 @default.
- W2000417995 cites W2154458481 @default.
- W2000417995 cites W2155619678 @default.
- W2000417995 cites W2156264353 @default.
- W2000417995 cites W2157656121 @default.
- W2000417995 cites W2167373003 @default.
- W2000417995 cites W2168643015 @default.
- W2000417995 cites W2170203792 @default.
- W2000417995 cites W2326164442 @default.
- W2000417995 cites W4241487444 @default.
- W2000417995 cites W4249527516 @default.
- W2000417995 cites W4251350894 @default.
- W2000417995 doi "https://doi.org/10.1159/000368604" @default.
- W2000417995 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/25659342" @default.
- W2000417995 hasPublicationYear "2015" @default.
- W2000417995 type Work @default.
- W2000417995 sameAs 2000417995 @default.
- W2000417995 citedByCount "11" @default.
- W2000417995 countsByYear W20004179952016 @default.
- W2000417995 countsByYear W20004179952017 @default.
- W2000417995 countsByYear W20004179952018 @default.
- W2000417995 countsByYear W20004179952019 @default.
- W2000417995 countsByYear W20004179952021 @default.
- W2000417995 countsByYear W20004179952022 @default.
- W2000417995 crossrefType "journal-article" @default.
- W2000417995 hasAuthorship W2000417995A5005449275 @default.
- W2000417995 hasAuthorship W2000417995A5068914374 @default.
- W2000417995 hasAuthorship W2000417995A5080546178 @default.
- W2000417995 hasConcept C104317684 @default.
- W2000417995 hasConcept C120599132 @default.
- W2000417995 hasConcept C124942203 @default.
- W2000417995 hasConcept C131872663 @default.
- W2000417995 hasConcept C142724271 @default.
- W2000417995 hasConcept C172680121 @default.
- W2000417995 hasConcept C2778258057 @default.
- W2000417995 hasConcept C2779234561 @default.
- W2000417995 hasConcept C29456083 @default.
- W2000417995 hasConcept C30481170 @default.
- W2000417995 hasConcept C36823959 @default.
- W2000417995 hasConcept C53226629 @default.
- W2000417995 hasConcept C54355233 @default.
- W2000417995 hasConcept C71924100 @default.
- W2000417995 hasConcept C80227256 @default.
- W2000417995 hasConcept C86803240 @default.
- W2000417995 hasConceptScore W2000417995C104317684 @default.
- W2000417995 hasConceptScore W2000417995C120599132 @default.
- W2000417995 hasConceptScore W2000417995C124942203 @default.
- W2000417995 hasConceptScore W2000417995C131872663 @default.
- W2000417995 hasConceptScore W2000417995C142724271 @default.
- W2000417995 hasConceptScore W2000417995C172680121 @default.
- W2000417995 hasConceptScore W2000417995C2778258057 @default.