Prenatal diagnosis of pathogenic genomic imbalance in
fetuses with increased nuchal translucency but normal karyotyping using
chromosomal microarray
TY Leung1, KC Au Yeung2, WC
Leung3, KY Leung4, TK Lo5, WWK To6,
WL Lau3, LW Chan6, DS Sahota1, RKW Choy1
1 Department of Obstetrics &
Gynaecology, The Chinese University of Hong Kong
2 Department of Obstetrics &
Gynaecology, Tuen Mun Hospital
3 Department of Obstetrics &
Gynaecology, Kwong Wah Hospital
4 Department of Obstetrics &
Gynaecology, Queen Elizabeth Hospital
5 Department of Obstetrics &
Gynaecology, Princess Margaret Hospital
6 Department of Obstetrics &
Gynaecology, United Christian Hospital
1. 3.7% of fetuses with increased nuchal
translucency (≥3.5 mm) but normal karyotype had pathogenic genomic
imbalance.
2. The incidence of pathogenic copy number variants was higher among fetuses with increased nuchal translucency in terms of sonographic anomalies (9.7%), compared with those without (3.0%).
3. Fetuses with increased nuchal translucency (≥3.5 mm) should be considered further testing with chromosomal microarray.
2. The incidence of pathogenic copy number variants was higher among fetuses with increased nuchal translucency in terms of sonographic anomalies (9.7%), compared with those without (3.0%).
3. Fetuses with increased nuchal translucency (≥3.5 mm) should be considered further testing with chromosomal microarray.