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

Chromosomal Microarray Analysis versus Karyotyping in Fetuses with Increased Nuchal Translucency

1
Dept. Molecular Medicine and Medical Biotechnology, School of Medicine, University of Naples Federico II, 80131 Naples, Italy
2
Maternal-Child Department, School of Medicine, University of Naples Federico II, 80131 Naples, Italy
3
Institute of Experimental Endocrinology and Oncology, National Research Council, 80131 Naples, Italy
*
Author to whom correspondence should be addressed.
These first authors contributed equally to this work.
These last authors contributed equally to this work.
Med. Sci. 2019, 7(3), 40; https://doi.org/10.3390/medsci7030040
Received: 1 October 2018 / Revised: 1 February 2019 / Accepted: 15 February 2019 / Published: 27 February 2019
(This article belongs to the Special Issue Prenatal Diagnosis: The State of the Art)
We have carried out a retrospective study of chromosome anomalies associated with increased nuchal translucency (NT) in order to compare yield rates of karyotype, chromosome microarray analysis (CMA), and non-invasive prenatal testing (NIPT) in this condition. Presenting with increased NT or cystic hygroma ≥3.5 mm as an isolated sign, 249 fetuses underwent karyotype and/or CMA from 11 to 18 gestational weeks. Karyotype and fluorescence in situ hybridization (FISH) analyses detected 103 chromosomal anomalies including 95 aneuploidies and eight chromosomal rearrangements or derivatives. Further, seven pathogenic copy number variants (CNV), five likely pathogenic CNVs, and 15 variants of unknown significance (VOUS) were detected by CMA in fetuses with normal karyotype. Genetic testing is now facing new challenges due to results with uncertain clinical impacts. Additional investigations will be necessary to interpret these findings. More than 15% of the anomalies that we have diagnosed with invasive techniques could not be detected by NIPT. It is therefore definitely not recommended in the case of ultrasound anomalies. These results, while corroborating the use of CMA in fetuses with increased NT as a second tier after rapid aneuploidy testing, do not suggest a dismissal of karyotype analysis. View Full-Text
Keywords: nuchal translucency; chromosome microarray analysis; non-invasive prenatal testing; prenatal diagnosis nuchal translucency; chromosome microarray analysis; non-invasive prenatal testing; prenatal diagnosis
MDPI and ACS Style

Cicatiello, R.; Pignataro, P.; Izzo, A.; Mollo, N.; Pezone, L.; Maruotti, G.M.; Sarno, L.; Sglavo, G.; Conti, A.; Genesio, R.; Nitsch, L. Chromosomal Microarray Analysis versus Karyotyping in Fetuses with Increased Nuchal Translucency. Med. Sci. 2019, 7, 40.

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