Skip to main content

Table 3 Abnormal karyotypes in different indication for prenatal genetic diagnosis

From: Cytogenetic analysis of 3387 umbilical cord blood in pregnant women at high risk for chromosomal abnormalities

Abnormal karyotypesIIIIIIIVVVIVII
 Trisomy 211810312 133
 Trisomy 18311 2 1 
 Trisomy 131    1 
 45,X 2     
 47,XXX4 1    
 47,XXY111211 
 47,XYY1 31 1 
 48,XXXX1      
Marker chromosome  3    
 Mosaic1410211 
 Translocation 31911 
 Inversion 2119112
Derivative chromosome15 1   
 Deletion 1 211 
 Duplication 1     
 Additio 3   11
 Others 2     
  1. I, NIPT positive; II, Ultrasonographic structural abnormal findings (USAF); III, Karyotype confirmation after amniocentesis (KCAA); IV, Ultrasound soft markers; V, Either mother or father with chromosomal abnormality (EMFCA); VI, Advanced maternal age; VII, Abnormal MSS