Table 2 Number of procedures performed by RDRS since implementation and pathologies most frequently attended by the centers (2016–2020)
Demographic region | South | Southeast | Northeast | Midwest | |||||
|---|---|---|---|---|---|---|---|---|---|
Institution | HPP | HCPA | FMABC | Unicamp | IFF | APAE-Salvador | HIAS | APAE- Anápolis | HAB |
Date of implementation | Oct, 2016 | Dec, 2016 | Dec, 2019 | Nov, 2016 | Dec, 2016 | Jul., 2018 | Dec, 2019 | Oct, 2016 | Dec, 2016 |
Number of Procedures | 5131 | 11,132 | 1264 | 384 | 863 | 111 | 51 | 361 | 3140 |
Most frequent disorders registered (ICD10–name–number–%) | ID (F71.0, F70.0, F72.0, F79.0–1180–22.99) | SCA (G11.2–924–8.3) | Unspecified ID(F79.0–293–23.18) | Unspecified ID (F79.0, F79.9–55–14.32) | OI (Q78.0–224–25.95) | Moderate ID(F71.0–80–72.072) | Craniofacial malformation syndromes (Q87.0–9–17.64) | Other malformations (Q87.8–135–37.39) | ID (F79.0, F70.0, F71.0–745–23.72) |
Syndromic malformations (352–6.86) | NF1 (Q85.0–916–8.22) | Wiskott-Aldrich syndrome (D82.0–190- 15.03) | Di George Syndrome (D82.1–31–8.07) | Syndromic malformations (Q87.8–105–12.16) | Severe ID (F72.0–12–10.81) | Neurodegenerative diseases (G31.8–6–11.76) | ID (F79.0–68–18.83) | Motor neuron diseases (G12.2–254–8.08) | |
Mitochondrial myopathy (343–6.68) | OI (Q78.0–718–7.34) | Moderate ID(F71.0–68–5.37) | Chromosomal anomalies (Q98.9–29–7.55) | Other ID (F78.0–91–10.54) | Chromosomal abnormality, unspecified (Q99.9–8–7.20) | Other malformations (Q87.8–6–11.76) | Chromosomal anomalies (Q99.9–38–10.52) | Classic Phenylketonuria (E70.0–195–6.21) | |
Chromosomal anomalies (Q99.9–192–3.74) | Muscular dystrophy (G71.0–650–5.83) | Mild ID (F70.0–65–5.14) | Defects in the complement system (D84.1–23–5.98) | Other skeletal malformations (Q87.5–74–8.57) | Muscular dystrophy (G71.0–6–11.76) | Rett syndrome (F84.2–10–2.77) | Disorders of plasma-protein metabolism (E88.0–176–5.60) | ||
Quimera 46 XX/46 XY (Q99.0–131–2.55) | Hereditary spastic paraplegia (G11.4–523–4.69) | Muscular dystrophy (G71.0–54–4.27) | Craniofacial malformation syndromes (Q87.0–19–4.94) | Other demyelinating diseases of CNS (G37.8–10–2.77) | Disorders of aminoacids metabolism (E72.9–162–5.15) | ||||
Other chromosomal anomalies (Q99.8–112–2.18) | Other sphingolipidosis (E75.2–460–4.13) | Turner syndrome (Q96.0–16–4.16) | Disorders of galactose metabolism (E74.2–135–4.29) | ||||||
Enlers-Danlos syndrome (Q79.6–90–1.75) | Craniofacial malformation syndromes(Q87.0–380 -3.41) | Congenital malformation syndromes predominantly associated with short stature (Q87.1–14–3.64) | Other disorders of mineral metabolism (E83.8–131–4.17) | ||||||
Glycogen storage disease (E74.0–77–1.50) | Neurodegenerative diseases (g31.8–356–3.19) | Other malformations (Q87.8–12–3.125) | |||||||
Other phakomatoses (Q85.8–69–1.34) | Unspecified ID (F79.0–351–3.15) | ||||||||
Disorders of amino acid transport (E72.0–68–1.32) | Hereditary motor and sensory neuropathy (G60.0–333–2.99) | ||||||||