Table 1 Description of the population
Number of patients in the cohort | 228,243 |
Number of affected patients in the cohort | 167,361 |
Median age at endpoint (in years) | |
Affected | 11 (Q1 = 5; Q3 = 21) |
Unaffected | 37 (Q1 = 30; Q3 = 43) |
Male to female sex ratio | 1.16 |
Reported death for affected patients | 4.8% |
Residence (Region) | |
Auvergne Rhône Alpes | 17,976 |
Bourgogne Franche Comte | 7,670 |
Bretagne | 13,701 |
Centre Val De Loire | 5,094 |
Corse | 562 |
Départements D'Outre-Mer | 4,733 |
Grand-Est | 15,179 |
Hauts De France | 23,172 |
Ile De France | 22,362 |
Normandie | 2,425 |
Nouvelle Aquitaine | 11,416 |
Occitanie | 10,150 |
Pays De La Loire | 12,899 |
Provence Alpes Côte D'Azur | 13,139 |
Objective of visit (N = 381,209) | |
Diagnosis | 55% |
Genetic counseling | 31% |
Follow-up/care | 36% |
Prenatal diagnosis | 9.7% |
Emergency | 0.3% |
Assertion of diagnosis | |
Confirmed | 34% |
Likely | 11% |
Unlabeled | 7% |
Indeterminate | 27% |
Ongoing | 19% |
Missing | 2% |
Transmission mode (N = 73,911) | |
Autosomal dominant | 18,710 |
Autosomal recessive | 7,911 |
Chromosomal | 7,284 |
X-linked | 4,477 |
Multi factorial | 956 |
Mitochondrial | 268 |
Unknown | 34,305 |
Children | Adults | |
|---|---|---|
Affected patients were referred by (%) | ||
Self | 4% | 16% |
Patient Support Group | 0% | 1% |
General Practitioner | 2% | 7% |
Pediatrician | 46% | 17% |
Other Specialist | 17% | 34% |
Geneticist | 3% | 6% |
Gynecologist-Obstetrician | 12% | 11% |
Centre of maternal and child health | 0% | 0% |
Support center | 6% | 3% |
Multidisciplinary diagnosis centre | 7% | 2% |
Prenatal screening centre | 0% | 0% |
Other | 1% | 3% |
Unknown | 1% | 1% |