Service d'hématologie et d'immunologie pédiatrique, hôpital Mère-Enfants, CHU de Nantes, 44000 Nantes, France.
Service d'hématologie et d'immunologie pédiatrique, hôpital Mère-Enfants, CHU de Nantes, 44000 Nantes, France.
Arch Pediatr. 2020 Nov;27(8):485-489. doi: 10.1016/j.arcped.2020.08.008. Epub 2020 Sep 11.
Newborn screening for severe combined immunodeficiency (SCID) is now routinely performed in many countries across Europe and around the world. The number of T-cell receptor excision circles (TRECs) reflects T cell levels. TREC quantification is possible using dried blood spot (DBS) samples already collected from newborns to screen for other conditions. This method is very sensitive and highly specific. Data in the literature show that the survival rate for children with SCID is much higher when the disease is detected through early screening, as opposed to a later diagnosis. Newborns diagnosed with SCID may receive the appropriate care quickly, before the onset of serious infectious complications, which raises survival rates, improves quality of life, and limits side effects and treatment costs. At the request of the French Ministry of Health, France's National Authority for Health (Haute Autorité de Santé) is expected to issue recommendations on this topic soon. The nationwide DEPISTREC study, involving 48 maternity units across France, showed that routine SCID screening is feasible and effective. Such screening offers the additional benefit of also diagnosing non-SCID lymphopenia within the infant population.
新生儿严重联合免疫缺陷（SCID）筛查目前已在欧洲和世界各地的许多国家常规开展。T 细胞受体切除环（TREC）反映了 T 细胞水平。已经从新生儿采集的干血斑（DBS）样本可用于 TREC 定量，以筛查其他疾病。该方法非常灵敏且特异性高。文献中的数据表明，通过早期筛查发现 SCID 的儿童的存活率要高得多，而不是通过后期诊断。一旦确诊为 SCID，新生儿可能会在出现严重感染并发症之前，及时得到适当的治疗，从而提高存活率，改善生活质量，并限制副作用和治疗费用。应法国卫生部的要求，法国国家卫生管理局（Haute Autorité de Santé）预计将很快发布有关该主题的建议。一项涉及法国 48 个妇产科单位的全国性 DEPISTREC 研究表明，常规 SCID 筛查是可行且有效的。这种筛查还具有在婴儿人群中诊断非 SCID 淋巴细胞减少症的额外益处。
