Optimising the diagnosis and referral of achondroplasia: Achondroplasia Forum best practice recommendations

Journal: Orphanet Journal of Rare Diseases (2022) 17:293

Authors: Valerie Cormier‑Daire, Moeenaldeen AlSayed, Inês Alves, Joana Bengoa, Tawfeg Ben‑Omran, Silvio Boero, Svein Fredwall, Catherine Garel, Encarna Guillen‑Navarro, Melita Irving, Christian Lampe, Mohamad Maghnie, Geert Mortier, Sérgio B. Sousa and Klaus Mohnike

License and source: This article is licensed under the Creative Commons Attribution 4.0 International License (CC BY 4.0).
https://creativecommons.org/licenses/by/4.0/

Original publication available via PubMed

Summery: The following summary and key takeaways were prepared by the C4B team to support understanding of the scientific publication and are intended for informational purposes only. They do not replace the original article or professional medical advice.

Optimised diagnosis and referral for achondroplasia are vital because early-life complications can be severe. The European Achondroplasia Forum audited six specialist centres and found most diagnoses were prenatal or at birth, but referrals to specialist multidisciplinary teams (MDTs) were often delayed and varied by country. Best practices: investigate suspicious routine ultrasounds with second-line imaging, use targeted molecular testing when needed (including validated NIPT where available), confirm diagnosis postnatally with clinical, radiological and molecular assessment, and refer families promptly to achondroplasia-specialist MDTs. Centres should provide clear contact points, patient information, and work with patient advocacy groups; regions without specialist centres should prioritise creating or recognising them.

Key Take Aways:
This article will provide valuable insights into:

1. Early diagnosis—preferably prenatal or within the first month—is crucial to manage life‑threatening infant complications.
2. If routine ultrasound raises concerns, perform second‑line imaging and refer to fetal medicine/specialist centres.
3. Targeted molecular testing (including validated NIPT where available) speeds confirmation; postnatal clinical + radiological + molecular assessment is effective.
4. Referral to an achondroplasia‑experienced MDT should occur as soon as diagnosis is suspected or confirmed.
5. Create/recognise specialist centres, provide clear contact/info, and partner with patient groups to reduce referral delays.