Pubblicazione scientifica

Chromosomal Microarray Analysis versus Karyotyping in Fetuses with Increased Nuchal Translucency

FILONE TECNOLOGICO	TEMA
trasformazione e commercializzazione	macchinari di ausilio alla lavorazione e trasformazione del pesce

RIASSUNTO

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.

DATA

Data di pubblicazione: 27/02/2019

AUTORI

CICATIELLO RITA
PIGNATARO PIERO
IZZO ANTONELLA
MOLLO NUNZIA
PEZONE LUCIA
MARUOTTI GIUSEPPE MARIA
SARNO LAURA
SGLAVO GABRIELLA
CONTI ANNA
GENESIO RITA
NITSCH LUCIO

ENTE DI AFFERENZA

DEPT MOLECULAR MEDICINE & MEDICAL BIOTECHNOLOGY SCHOOL OF MEDICINE UNIV NAPLES FEDERICO II 80131 NAPLES ITALY RITA CICATIELLO UNINA IT RC PIERO PIGNATARO GMAIL COM PP ANTONELLA IZZO UNINA IT AI NUNZIA MOLLO UNINA IT NM PEZONEL87 GMAIL COM LP
MATERNAL CHILD DEPT SCHOOL OF MEDICINE UNIV NAPLES FEDERICO II 80131 NAPLES ITALY GM MAR TISCALI IT GMM LAURA SARNO UNINA IT LS GABRIELLA SGLAVO UNINA IT GS
INST EXPERIMENTAL ENDOCRINOLOGY & ONCOLOGY NATL RSCH COUNCIL 80131 NAPLES ITALY

RIVISTA

Medical Sciences, 7(3), 40

IMPACT FACTOR

1,552

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