Application of chromosome microarray analysis for fetuses with increased nuchal translucency and a normal karyotype / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 370-374, 2015.
Artículo
en Chino
| WPRIM
| ID: wpr-239467
ABSTRACT
<p><b>OBJECTIVE</b>To explore the genetic etiology for fetuses with increased nuchal translucency (NT) but a normal karyotype at whole genome level by chromosome microarray analysis (CMA).</p><p><b>METHODS</b>Seventy-eight fetuses with increased NT (≥ 3.0 mm) but a normal karyotype were collected between 11(+0) and 13(+6) gestational weeks. Genomic DNA was extracted, and microarray testing was performed using Affymetrix CytoScan(TM) HD arrays. The data was analyzed by CHAS software. All detected copy number variations (CNVs) were confirmed with real-time quantitative polymerase chain reaction.</p><p><b>RESULTS</b>The CMA assay has detected pathogenic CNVs in 6 fetuses (7.69%), which have ranged from 0.41 Mb to 15.87 Mb. Well-known microdeletion or microduplication syndromes including Wolf-Hirschhorn syndrome, 22q11 microdeletion syndrome and ATR-16 syndrome were identified in three cases. The detection rates in fetuses with or without structural abnormalities were 18.18% and 5.97%, respectively (P=0.198 with Fisher's Exact Test). The average NT in fetuses with pathogenic CNVs and non-pathogenic CNVs has measured 4.48 mm and 4.22 mm (P=0.735 by Mann-Whitney Test).</p><p><b>CONCLUSION</b>For fetuses with increased NT, CMA can identify chromosomal microdeletion/microduplication unrecognizable by conventional karyotyping analysis. It may therefore play an important role in prenatal diagnosis and genetic counseling by improving the diagnostic rate.</p>
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Diagnóstico Prenatal
/
Diagnóstico por Imagen
/
Aberraciones Cromosómicas
/
Análisis de Secuencia por Matrices de Oligonucleótidos
/
Trastornos de los Cromosomas
/
Medida de Translucencia Nucal
/
Diagnóstico
/
Enfermedades Fetales
/
Cariotipo
/
Genética
Tipo de estudio:
Estudio diagnóstico
Límite:
Adulto
/
Femenino
/
Humanos
/
Embarazo
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2015
Tipo del documento:
Artículo
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