Sander F H, Jørgensen D S, Jakobsen L P, Jensen A N, Lousen T, Sandager P, Sperling L, Vogel I, Petersen O B, Vedel C
Center of Fetal Medicine, Department of Gynecology, Fertility and Obstetrics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.
Department of Clinical Medicine, Copenhagen University, Copenhagen, Denmark.
Ultrasound Obstet Gynecol. 2024 Apr;63(4):507-513. doi: 10.1002/uog.27488. Epub 2024 Mar 13.
To investigate the overall and type-specific prenatal detection rates (DRs) of orofacial clefts in a national cohort in Denmark.
This study was based on data from the Danish Fetal Medicine Database and included all fetuses and children from singleton pregnancies diagnosed with an orofacial cleft prenatally and/or postnatally between 2009 and 2018. The types of cleft included unilateral, bilateral or median cleft lip (CL); unilateral, bilateral or median cleft lip with secondary cleft palate (CLP); and cleft palate (CP). The clefts were grouped as cleft lip with or without cleft palate (CL(P)) or as all clefts (including CP). All cases with discordance between prenatal and postnatal diagnoses were validated in the local patient files (Astraia). Cases without prenatal validation of the postnatal diagnosis were marked as undetected. Postnatally diagnosed cases with a strong prenatal suspicion of a cleft but without an International Classification of Diseases-10 code were registered as prenatally detected. Termination of pregnancy and intrauterine death were registered as true positives even if no autopsy could be performed. Liveborn cases with a prenatal diagnosis but without a postnatal validation were excluded.
A total of 994 cases were included in the study, of which 933 were liveborn. The prevalence of orofacial cleft was 1.6 per 1000 live births. There were no differences in the baseline characteristics between detected and undetected cases. The DR for CL(P) was 71.7% (95% CI, 64.8-78.9%), with an increase from 60.0% in 2009 to 73.0% in 2018 (P = 0.018). The type-specific DRs for the entire period were 56.4% (95% CI, 45.0-67.6%) for unilateral CL; 76.6% (95% CI, 71.7-82.9%) for unilateral CLP; 70.5% (95% CI, 52.1-87.6%) for bilateral CL; 82.3% (95% CI, 70.6-93.6%) for bilateral CLP; 0% (0/6) for median CL; 75.0% (3/4) for median CLP; and 3.3% (95% CI, 0.6-5.7%) for CP. A total of 20.9% (208/994) of the cases had associated findings, of which 33.2% (69/208) were genetic aberrations.
The DR for CL(P) has improved in Denmark over the last decade. The DR for CLP is high, with the highest DR for bilateral CLP. However, prenatal detection of CP remains a challenge. © 2023 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.
调查丹麦全国队列中口面部裂隙的总体及特定类型的产前检出率（DRs）。
本研究基于丹麦胎儿医学数据库的数据，纳入了2009年至2018年间产前和/或产后诊断为口面部裂隙的单胎妊娠的所有胎儿和儿童。裂隙类型包括单侧、双侧或正中唇裂（CL）；单侧、双侧或正中唇裂合并继发腭裂（CLP）；以及腭裂（CP）。这些裂隙被分为有或无腭裂的唇裂（CL(P)）或所有裂隙（包括CP）。所有产前和产后诊断不一致的病例均在当地患者档案（Astraia）中进行了验证。产后诊断未经产前验证的病例被标记为未检出。产后诊断但产前强烈怀疑有裂隙但无国际疾病分类-10编码的病例被登记为产前检出。即使无法进行尸检，终止妊娠和宫内死亡也被登记为真阳性。有产前诊断但无产后验证的活产病例被排除。
本研究共纳入994例病例，其中933例为活产。口面部裂隙的患病率为每1000例活产中有1.6例。检出病例和未检出病例的基线特征无差异。CL(P)的DR为71.7%（95%CI，64.8 - 78.9%），从2009年的60.0%增至2018年的73.0%（P = 0.018）。整个时期特定类型的DR分别为：单侧CL为56.4%（95%CI，45.0 - 67.6%）；单侧CLP为76.6%（95%CI，71.7 - 82.9%）；双侧CL为70.5%（95%CI，52.1 - 87.6%）；双侧CLP为82.3%（95%CI，70.6 - 93.6%）；正中CL为0%（0/6）；正中CLP为75.0%（3/4）；CP为3.3%（95%CI，0.6 - 5.7%）。共有20.9%（208/994）的病例有相关发现，其中33.2%（69/208）为基因异常。
在过去十年中，丹麦CL(P)的DR有所提高。CLP的DR较高，双侧CLP的DR最高。然而，CP的产前检测仍然是一个挑战。© 2023作者。《妇产科超声》由约翰·威利父子有限公司代表国际妇产科超声学会出版。
