PMID- 30818867 OWN - NLM STAT- PubMed-not-MEDLINE LR - 20201001 IS - 2076-3271 (Electronic) IS - 2076-3271 (Linking) VI - 7 IP - 3 DP - 2019 Feb 27 TI - Chromosomal Microarray Analysis versus Karyotyping in Fetuses with Increased Nuchal Translucency. LID - 10.3390/medsci7030040 [doi] LID - 40 AB - 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. FAU - Cicatiello, Rita AU - Cicatiello R AD - Dept. Molecular Medicine and Medical Biotechnology, School of Medicine, University of Naples Federico II, 80131 Naples, Italy. rita.cicatiello@unina.it. FAU - Pignataro, Piero AU - Pignataro P AD - Dept. Molecular Medicine and Medical Biotechnology, School of Medicine, University of Naples Federico II, 80131 Naples, Italy. piero.pignataro@gmail.com. FAU - Izzo, Antonella AU - Izzo A AD - Dept. Molecular Medicine and Medical Biotechnology, School of Medicine, University of Naples Federico II, 80131 Naples, Italy. antonella.izzo@unina.it. FAU - Mollo, Nunzia AU - Mollo N AD - Dept. Molecular Medicine and Medical Biotechnology, School of Medicine, University of Naples Federico II, 80131 Naples, Italy. nunzia.mollo@unina.it. FAU - Pezone, Lucia AU - Pezone L AD - Dept. Molecular Medicine and Medical Biotechnology, School of Medicine, University of Naples Federico II, 80131 Naples, Italy. pezonel87@gmail.com. FAU - Maruotti, Giuseppe Maria AU - Maruotti GM AD - Maternal-child Department, School of Medicine, University of Naples Federico II, 80131 Naples, Italy. gm.mar@tiscali.it. FAU - Sarno, Laura AU - Sarno L AD - Maternal-child Department, School of Medicine, University of Naples Federico II, 80131 Naples, Italy. laura.sarno@unina.it. FAU - Sglavo, Gabriella AU - Sglavo G AD - Maternal-child Department, School of Medicine, University of Naples Federico II, 80131 Naples, Italy. gabriella.sglavo@unina.it. FAU - Conti, Anna AU - Conti A AD - Dept. Molecular Medicine and Medical Biotechnology, School of Medicine, University of Naples Federico II, 80131 Naples, Italy. anconti@unina.it. FAU - Genesio, Rita AU - Genesio R AD - Dept. Molecular Medicine and Medical Biotechnology, School of Medicine, University of Naples Federico II, 80131 Naples, Italy. rgenesio@unina.it. FAU - Nitsch, Lucio AU - Nitsch L AD - Dept. Molecular Medicine and Medical Biotechnology, School of Medicine, University of Naples Federico II, 80131 Naples, Italy. nitsch@unina.it. AD - Institute of Experimental Endocrinology and Oncology, National Research Council, 80131 Naples, Italy. nitsch@unina.it. LA - eng GR - POR Campania FSE 2007-2013; Campania FSE 2014-2020/Regione Campania/ GR - Project CREME/Regione Campania/ PT - Journal Article DEP - 20190227 PL - Switzerland TA - Med Sci (Basel) JT - Medical sciences (Basel, Switzerland) JID - 101629322 PMC - PMC6473420 OTO - NOTNLM OT - chromosome microarray analysis OT - non-invasive prenatal testing OT - nuchal translucency OT - prenatal diagnosis COIS- The authors declare no conflict of interest. EDAT- 2019/03/02 06:00 MHDA- 2019/03/02 06:01 PMCR- 2019/02/27 CRDT- 2019/03/02 06:00 PHST- 2018/10/01 00:00 [received] PHST- 2019/02/01 00:00 [revised] PHST- 2019/02/15 00:00 [accepted] PHST- 2019/03/02 06:00 [entrez] PHST- 2019/03/02 06:00 [pubmed] PHST- 2019/03/02 06:01 [medline] PHST- 2019/02/27 00:00 [pmc-release] AID - medsci7030040 [pii] AID - medsci-07-00040 [pii] AID - 10.3390/medsci7030040 [doi] PST - epublish SO - Med Sci (Basel). 2019 Feb 27;7(3):40. doi: 10.3390/medsci7030040.