Table 3

Chromosome anomalies detected in fetuses with isolated heart defects, with other cardiovascular (CV) anomalies, and with extracardiac malformations

Chromosome anomaliesAllIsolated heart defectsWith other CV anomaliesWith extracardiac malformations3-150
Trisomy 2119 (44)06 (32)18 (95)
Trisomy 1811 (25)08 (73)11 (100)
Trisomy 136 (14)05 (83)6 (100)
Monosomy X3 (7)02 (67)3 (100)
Triploidy2 (5)02 (100)2 (100)
Other structural anomalies2 (5)01 (50)2 (100)
Total43 (100)0 (0)24 (56)42 (98)
  • Values are n (%).

  • 3-150 For example: facial anomalies (flat occiput and midface, epicanthic folds, small nose, low set ears), cystic hygroma, anomalies of the central nervous system (anencephaly, encephalocele, holoprosencephaly, myelomeningocele), anomalies of the genitourinary system (renal agenesis, renal multicystic dysplasia, renal fusion, hydronephrosis, cryptorchidism, dysplastic ovaries, hypospadias), anomalies of the respiratory system (pulmonary hypoplasia, pleural effusions), anomalies of the skeletal system (clinodactyly, short fingers, syndactyly, 11 ribs, short sternum, hemivertebrae), anomalies of the gastrointestinal system (duodenal atresia, imperforate anus, malrotation, hepatic fibrosis, omphalocele, diaphragmatic hernia, tracheo-oesophageal fistula), and other.