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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