Puumalainen Topias, Kauppinen Tuomas, Nikkinen Hilkka
Medical Research Center, Research Unit of Clinical Medicine, University of Oulu and Oulu University Hospital, Oulu, Finland.
Department of Obstetrics and Gynecology, Oulu University Hospital, Oulu, Finland.
Acta Obstet Gynecol Scand. 2025 Jun;104(6):1120-1127. doi: 10.1111/aogs.15100. Epub 2025 May 5.
Our objective was to investigate the accuracy of prenatal diagnoses of congenital lung malformations (CLM) compared to postnatal diagnoses in a population in northern Finland and to estimate the birth prevalence of CLMs in the same population.
A retrospective review of all CLM cases in a tertiary referral center, Oulu University Hospital, Finland, in 2010-2020. Data were collected from medical records. The final postnatal diagnosis was recorded as the pathologic-anatomic diagnosis, if available, and otherwise as the postnatal radiologic diagnosis.
Our case series comprises 37 CLM cases. The prenatal detection rate of CLMs was 100%. The prenatal diagnosis was congenital pulmonary airway malformation (CPAM) in 34/37 cases (92%). The accuracy of prenatal CLM diagnoses was 60% compared to postnatal radiologic diagnoses and 51% compared to final postnatal diagnoses. Relative frequencies of different diagnoses in postnatally confirmed CLM cases were CPAM 47% (16/34 cases), bronchopulmonary sequestration (BPS) 15% (5/34), hybrid CPAM/BPS 15% (5/34), congenital lobar overinflation (CLO) 15% (5/34), bronchial atresia 6% (2/34), and bronchogenic cyst 3% (1/34). Postnatally confirmed cases of CPAM were more likely to have a higher CPAM-volume ratio at diagnosis (p = 0.002), a higher maximum CPAM-volume ratio during pregnancy (p < 0.001), macrocystic appearance on ultrasonography (p = 0.026), and mediastinal shift (p < 0.001) compared with the rest of the cases in this study. The prevalence of all CLMs combined was 3.71 cases per 10 000 live births. The prevalences of CPAM, BPS, hybrid CPAM/BPS, and CLO were 1.69, 0.56, 0.56, and 0.56 cases per 10 000 live births, respectively.
We found that all CLMs were detected prenatally, but almost half of the prenatal diagnoses were inaccurate compared to postnatal diagnoses. Most lesions were diagnosed prenatally as CPAM, but postnatally many of them turned out to be BPS, hybrid CPAM/BPS, or CLO. Postnatally confirmed CPAM cases were more likely to have a high CPAM-volume ratio, mediastinal shift, and macrocystic appearance on prenatal ultrasonography compared with other CLMs. The prevalence of CLMs is still relatively poorly documented, but we provide new estimates in Finland.
我们的目的是在芬兰北部人群中，将先天性肺畸形（CLM）的产前诊断准确性与产后诊断进行比较，并估计同一人群中CLM的出生患病率。
对芬兰奥卢大学医院这一三级转诊中心2010 - 2020年所有CLM病例进行回顾性研究。数据从病历中收集。最终的产后诊断若有病理解剖诊断则记录为该诊断，否则记录为产后影像学诊断。
我们的病例系列包含37例CLM病例。CLM的产前检出率为100%。34/37例（92%）的产前诊断为先天性肺气道畸形（CPAM）。与产后影像学诊断相比，产前CLM诊断的准确率为60%，与最终产后诊断相比为51%。产后确诊的CLM病例中不同诊断的相对频率分别为：CPAM 47%（16/34例）、肺隔离症（BPS）15%（5/34）、混合型CPAM/BPS 15%（5/34）、先天性肺叶气肿（CLO）15%（5/34）、支气管闭锁6%（2/34）以及支气管源性囊肿3%（1/34）。与本研究中的其他病例相比，产后确诊的CPAM病例在诊断时更可能具有较高的CPAM体积比（p = 0.002）、孕期最高CPAM体积比更高（p < 0.001）、超声检查显示为大囊型外观（p = 0.026）以及纵隔移位（p < 0.001）。所有CLM合并患病率为每10000例活产中有3.71例。CPAM、BPS、混合型CPAM/BPS和CLO的患病率分别为每10000例活产中1.69例、0.56例、0.56例和0.56例。
我们发现所有CLM均在产前被检测到，但与产后诊断相比，几乎一半的产前诊断不准确。大多数病变产前诊断为CPAM，但产后许多被证实为BPS、混合型CPAM/BPS或CLO。与其他CLM相比，产后确诊的CPAM病例在产前超声检查中更可能具有高CPAM体积比、纵隔移位和大囊型外观。CLM的患病率记录仍然相对较少，但我们提供了芬兰的新估计值。
