Review Article
Accuracy of Prenatal Diagnosis in Elective Termination of Pregnancy: 385 Cases from 2000 to 2007
Table 1
Anomalies found in 385 cases after TOP.
| | Anomalies | Number of cases |
| | Chromosome abnormalities | 149 | | Numerical | 122 | | Trisomy 13 | 16 | | Trisomy 18 | 21 | | Trisomy 21 | 67 | | Monosomy X | 12 | | Other | 6 | | Structural unbalanced | 22 | | Euploidies | 5 |
| | Nervous system anomalies | 77 | | Neural tube defects | 59 | | Other | 18 |
| | Monogenic disorders | 44 | | Familial syndromes | 13 | | Hemophilia A | 3 | | X- fragile syndrome | 2 | | Muscular spinal atrophy | 1 | | Beta-thalassemia | 1 | | Sickle cell anemia | 1 | | Mucopolysaccharidosis type I | 1 | | Gangliosidosis type I | 1 | | Metachromatic leucodystrophy | 1 | | Walker-Warburg syndrome | 1 | | Familial amyloidotic polyneuropathy | 1 |
| | Diagnosis of index case | 31 | | Frontonasal dysplasia | 3 | | Fryns syndrome | 3 | | Meckel-Gruber syndrome | 2 | | Multiple pterygium syndrome | 2 | | Roberts syndrome | 2 | | Bardet-Biedl syndrome | 1 | | Thanatophoric dysplasia | 1 | | Diastrophic dysplasia | 1 | | Apert syndrome | 1 | | Osteogenesis imperfecta type IIA | 1 | | Tetraamelia with pulmonary agenesis | 1 | | Bartsocas-Papas syndrome | 1 | | Mucopolysaccharidosis type VII | 1 | | Pfeiffer syndrome | 1 | | Proteus syndrome | 1 | | Atelosteogenesis type I | 1 | | X-linked hydrocephalus | 1 | | Solitary median maxillary central incisor syndrome | 1 | | Other | 6 |
| | Sequences | 37 | | Oligohydramnios | 17 | | Amnion rupture | 6 | | Early urethral obstruction | 6 | | Laterality sequences | 2 | | Other | 6 |
| | Polymalformative syndrome | 20 | | Isolated congenital heart disease | 16 | | Nonimmune hydrops | 5 | | Infections | 5 | | CMV | 4 | | Parvovirus B19 | 1 |
| | Teratogen | 5 | | Misoprostol | 4 | | Warfarin | 1 |
| | Other diagnoses | 24 |
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