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Open AccessArticle

Integrated FISH, Karyotyping and aCGH Analyses for Effective Prenatal Diagnosis of Common Aneuploidies and Other Cytogenomic Abnormalities

Laboratory of Clinical Cytogenetics, Department of Genetics, Yale School of Medicine, New Haven, CT 06520, USA
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Med. Sci. 2019, 7(2), 16; https://doi.org/10.3390/medsci7020016
Received: 13 December 2018 / Revised: 10 January 2019 / Accepted: 21 January 2019 / Published: 23 January 2019
(This article belongs to the Special Issue Prenatal Diagnosis: The State of the Art)
Current prenatal genetic evaluation showed a significantly increase in non-invasive screening and the reduction of invasive diagnostic procedures. To evaluate the diagnostic efficacy on detecting common aneuploidies, structural chromosomal rearrangements, and pathogenic copy number variants (pCNV), we performed a retrospective analysis on a case series initially analyzed by aneuvysion fluorescence in situ hybridization (FISH) and karyotyping then followed by array comparative genomic hybridization (aCGH). Of the 386 cases retrieved from the past decade, common aneuploidies were detected in 137 cases (35.5%), other chromosomal structural rearrangements were detected in four cases (1%), and pCNV were detected in five cases (1.3%). The relative frequencies for common aneuploidies suggested an under detection of sex chromosome aneuploidies. Approximately 9.5% of cases with common aneuploidies showed a mosaic pattern. Inconsistent results between FISH and karyotyping were noted in cases with pseudo-mosaicism introduced by culture artifact or variable cellular proliferation from cells with mosaic karyotypic complements under in vitro cell culture. Based on findings from this case series, cell-based FISH and karyotyping should be performed to detect common aneuploidies, structural chromosomal abnormalities, and mosaic pattern. DNA-based aCGH and reflex FISH should be performed to detect and confirm genomic imbalances and pCNV. Practice points to ensure the diagnostic accuracy and efficacy were summarized. View Full-Text
Keywords: fluorescence in situ hybridization (FISH); karyotype; array comparative genomic hybridization (aCGH); amniotic fluid (AF); chorionic villus sampling (CVS); aneuploidies; pathogenic copy number variants (pCNV); confined placental mosaicism (CPM); true fetal mosaicism (TFM); pseudo-mosaicism fluorescence in situ hybridization (FISH); karyotype; array comparative genomic hybridization (aCGH); amniotic fluid (AF); chorionic villus sampling (CVS); aneuploidies; pathogenic copy number variants (pCNV); confined placental mosaicism (CPM); true fetal mosaicism (TFM); pseudo-mosaicism
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Chai, H.; DiAdamo, A.; Grommisch, B.; Boyle, J.; Amato, K.; Wang, D.; Wen, J.; Li, P. Integrated FISH, Karyotyping and aCGH Analyses for Effective Prenatal Diagnosis of Common Aneuploidies and Other Cytogenomic Abnormalities. Med. Sci. 2019, 7, 16.

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