Imagerie Pediatrique, Hopital Robert Debré, Paris, France.
Prenat Diagn. 2013 Mar;33(3):273-8. doi: 10.1002/pd.4058. Epub 2013 Jan 25.
This study aims to evaluate the use of fetal brain magnetic resonance imaging (MRI) following an antenatal sonographic diagnosis of isolated cleft lip with or without cleft palate (CL/P).
This was a retrospective study of 92 fetuses antenatally diagnosed with isolated CL/P on screening ultrasound. All patients underwent expert diagnostic antenatal ultrasound, fetal brain MRI, and karyotype analysis.
Five cases were excluded from the study as associated abnormalities were detected on expert ultrasound: corpus callosum agenesis (n = 1), retrognathism (n = 3), and ectrodactyly (n = 1). Fetal MRI diagnosed unsuspected midline cerebral abnormalities in four out of the 87 remaining cases (4.6%): vermis agenesis (n = 1), isolated arhinencephaly (n = 2), and suspicion of pituitary abnormality (n = 1). All karyotype analyses were normal.
In CL/P, the incidence of associated cerebral abnormalities overlooked on ultrasound is 4.6%. Careful evaluation of midline structures by expert ultrasound in CL/P is necessary and may be sufficient. MRI can be useful if the US examination is limited or in case of family history. However, the choice to proceed to fetal MRI may vary from institution to institution.
本研究旨在评估在产前超声诊断为单纯唇裂伴或不伴腭裂（CL/P）后使用胎儿脑磁共振成像（MRI）的情况。
这是一项回顾性研究，共纳入 92 例在产前超声筛查中被诊断为单纯 CL/P 的胎儿。所有患者均接受了专家级产前超声、胎儿脑 MRI 和染色体核型分析。
由于在专家超声检查中发现了 5 例相关异常，故这 5 例被排除在研究之外：胼胝体发育不全（n=1）、小下颌（n=3）和并指（n=1）。在其余 87 例中，有 4 例（4.6%）胎儿 MRI 诊断出了超声未检出的中线脑异常：蚓部发育不全（n=1）、单纯无鼻畸形（n=2）和垂体异常可疑（n=1）。所有染色体核型分析均正常。
在 CL/P 中，超声漏诊的相关脑异常发生率为 4.6%。在 CL/P 中，对中线结构进行专家级超声仔细评估是必要的，且可能已经足够。如果超声检查受限或存在家族史，MRI 可能有用。然而，是否进行胎儿 MRI 的选择可能因机构而异。
