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Prenatal Detection Rates
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Example table* - Prenatal diagnosis of 18 selected congenital anomaly subgroups for registries with complete data from 2013 to 2017

Malformation Total Cases Cases Prenatally Diagnosed
(% of Total Cases)
Excluding genetic conditions
          All Anomalies (Excluding genetic conditions) 61097 24431 (40.0%)
          Anencephalus and similar (Excluding genetic conditions) 990 979 (98.9%)
          Spina Bifida (Excluding genetic conditions) 1239 1094 (88.3%)
          Hydrocephalus (Excluding genetic conditions) 1236 991 (80.2%)
          Transposition of great vessels (Excluding genetic conditions) 923 627 (67.9%)
          Hypoplastic left heart (Excluding genetic conditions) 636 543 (85.4%)
          Cleft lip with or without palate (Excluding genetic conditions) 2097 1426 (68.0%)
          Diaphragmatic hernia (Excluding genetic conditions) 678 492 (72.6%)
          Gastroschisis (Excluding genetic conditions) 686 624 (91.0%)
          Omphalocele (Excluding genetic conditions) 595 530 (89.1%)
          Bilateral renal agenesis including Potter syndrome (Excluding genetic conditions) 336 317 (94.3%)
          Posterior urethral valve and/or prune belly (Excluding genetic conditions) 365 281 (77.0%)
          Limb reduction defects (Excluding genetic conditions) 1256 735 (58.5%)
          Club foot - talipes equinovarus (Excluding genetic conditions) 2875 1692 (58.9%)
          Chromosomal 12133 8950 (73.8%)
          Down Syndrome 6693 4693 (70.1%)
          Patau syndrome/trisomy 13 605 565 (93.4%)
          Edward syndrome/trisomy 18 1657 1552 (93.7%)
Includes the following registries: Antwerp (Belgium), Hainaut (Belgium), Zagreb (Croatia), Brittany (France), French West Indies (France), Isle de la Reunion (France), Paris (France), Saxony-Anhalt (Germany), Cork and Kerry (Ireland), SE Ireland, Emilia Romagna (Italy), Tuscany (Italy), Malta, N Netherlands (NL), Norway, Wielkopolska (Poland), S Portugal, Basque Country (Spain), Valencia Region (Spain), Vaud (Switzerland), Northern England (UK), South West England (UK), Thames Valley (UK), Wales (UK), Wessex (UK), Ukraine

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* Information on the proportion of cases prenatally diagnosed are available for the latest five year period only.

Only registries with 80% known for the “when discovered” variable and 4 or more years of data in the latest time period are included in these tables.

Prenatal diagnosis is common in livebirths; only some cases diagnosed prenatally will result in TOPFA.

The number of cases in each congenital anomaly subgroup is NOT the number of isolated cases. In particular the outcome, such as fetal deaths (FD) or terminations (TOPFA), for seemingly less severe anomalies may have occurred as the case had other more severe major anomalies.

Please refer to EUROCAT Member Registries for information on how data was collected, definitions used, and for Registry Leader contact details.