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中华妇幼临床医学杂志(电子版) ›› 2018, Vol. 14 ›› Issue (04) : 373 -377. doi: 10.3877/cma.j.issn.1673-5250.2018.04.001

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胎儿唇腭裂产前诊断及预后研究现状
徐婷婷1, 王晓东1, 余海燕1,()   
  1. 1. 610041 成都,四川大学华西第二医院妇产科、出生缺陷与相关妇儿疾病教育部重点实验室
  • 收稿日期:2018-01-10 修回日期:2018-05-30 出版日期:2018-08-01
  • 通信作者: 余海燕

Prenatal diagnosis and prognosis of fetal cleft lip and/or palate

Tingting Xu1, Xiaodong Wang1, Haiyan Yu1,()   

  1. 1. Department of Obstetrics and Gynecology, Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu 610041, Sichuan Province, China
  • Received:2018-01-10 Revised:2018-05-30 Published:2018-08-01
  • Corresponding author: Haiyan Yu
  • About author:
    Corresponding author: Yu Haiyan, Email:
  • Supported by:
    Training Project of Academic and Technical Leaders of Sichuan Provincial Human Resources and Social Security Department([2016]183-31); Project of Science and Technology Bureau of Chengdu(2014-HM01-00039-SF)
引用本文:

徐婷婷, 王晓东, 余海燕. 胎儿唇腭裂产前诊断及预后研究现状[J]. 中华妇幼临床医学杂志(电子版), 2018, 14(04): 373-377.

Tingting Xu, Xiaodong Wang, Haiyan Yu. Prenatal diagnosis and prognosis of fetal cleft lip and/or palate[J]. Chinese Journal of Obstetrics & Gynecology and Pediatrics(Electronic Edition), 2018, 14(04): 373-377.

唇腭裂是最常见的颜面部畸形,对于该病的病因迄今尚未阐明,目前多认为该病是由于遗传、环境因素共同作用所致。中孕期通过超声、MRI等辅助检查方法可诊断胎儿唇腭裂。部分胎儿唇腭裂合并其他畸形,部分存在基因、染色体异常,影响患儿出生后生存质量及预后等,因此产前对胎儿唇腭裂的明确诊断至关重要。胎儿唇腭裂宫内手术治疗目前尚处于研究阶段,非综合征性唇腭裂(NSCL/P)患儿于婴幼儿期进行手术治疗后,多数可以康复。笔者拟就胎儿唇腭裂产前诊断及预后研究现状进行阐述,以提高临床对该病的诊治水平。

Cleft lip and/or palate are common facial deformities. Its etiology is still unknown, which may be due to genetic factors and environmental factors. Fetal cleft lip and/or palate can be auxiliarily diagnosed by ultrasonography and MRI. Complicated cases of fetal cleft lip and/or palate may be combined with other deformities and/or genes or chromosomal abnormalities, which affect survivors′ life quality and prognosis. So the definitive diagnosis of fetal cleft lip and/or palate is crucial. Fetal intrauterine surgery of cleft lip and/or palate is still in the research stage. The majority of non-syndromic cleft lip and/or palate (NSCL/P) can be corrected after birth by surgery in infancy. The authors intend to focus on the prenatal diagnosis and prognosis of fetal cleft lip and/or palate, in order to improve the diagnosis and treatment abilities of fetal cleft lip and/or palate.

[1]
Bekiesinska-Figatowska M, Bragoszewska H, Romaniuk-Doroszewska A, et al. The role of magnetic resonance imaging in the prenatal diagnosis of cleft lip and palate[J]. Dev Period Med, 2014, 18(1): 27-32.
[2]
Panamonta V, Pradubwong S, Panamonta M, et al. Global birth prevalence of orofacial clefts: a systematic review[J]. J Med Assoc Thai, 2015, 98(Suppl 7): S11-S21.
[3]
代礼,朱军,周光萱,等. 1996—2000年中国围产儿总唇裂畸形的监测[J]. 中华口腔医学杂志,2003, 38(6): 438-440.
[4]
Mossey PA, Little J, Munger RG, et al. Cleft lip and palate[J]. Lancet, 2009, 374(9703): 1773-1785.
[5]
Shkoukani MA, Lawrence LA, Liebertz DJ, et al. Cleft palate: a clinical review[J]. Birth Defects Res C Embryo Today, 2014, 102(4): 333-342.
[6]
Wu T, Liang KY, Hetmanski JB, et al. Evidence of gene-environment interaction for the IRF6 gene and maternal multivitamin supplementation in controlling the risk of cleft lip with/without cleft palate[J]. Hum Genet, 2010, 128(4): 401-410.
[7]
Lei RL, Chen HS, Huang BY, et al. Population-based study of birth prevalence and factors associated with cleft lip and/or palate in Taiwan 2002-2009[J]. PLoS One, 2013, 8(3): e58690.
[8]
Steinberg JP, Gosain AK. Thirty years of prenatal cleft diagnosis: what have we learned?[J]. Plast Reconstr Surg, 2015, 136(3): 550-557.
[9]
王新宽,尤涛,刘兴光,等. 孕早期服用β受体阻滞剂是否会造成胎儿先天性畸形的系统评价与Meta分析[J]. 中国胸心血管外科临床杂志,2015, 22(7): 678-684.
[10]
Hao Y, Tian S, Jiao X, et al. Association of parental environmental exposures and supplementation intake with risk of nonsyndromic or ofacial clefts: a case-control study in Heilongjiang Province, China[J]. Nutrients, 2015, 7(9): 7172-7184.
[11]
Shahrukh Hashmi S, Gallaway MS, Waller DK, et al. Maternal fever during early pregnancy and the risk of oral clefts[J]. Birth Defects Res A Clin Mol Teratol, 2010, 88(3): 186-194.
[12]
Bille C, Skytthe A, Vach W, et al. Parent′s age and the risk of oral clefts[J]. Epidemiology, 2005, 16(3): 311-316.
[13]
Leslie EJ, Taub MA, Liu H, et al. Identification of functional variants for cleft lip with or without cleft palate in or near PAX7, FGFR2, and NOG by targeted sequencing of GWAS loci[J]. Am J Hum Genet, 2015, 96(3): 397-411.
[14]
刘百灵,王远流,蒋建穗,等. 165例超声诊断胎儿结构畸形的临床分析[J]. 中国优生与遗传杂志,2016, 24(5): 106-107.
[15]
叶璐,杨太珠,罗红,等. 二维及三维超声诊断胎儿颜面部少见或复杂畸形的价值[J]. 中国优生与遗传杂志,2010, 18(9): 92-93, 117.
[16]
Maarse W, Bergé SJ, Pistorius L, et al. Diagnostic accuracy of transabdominal ultrasound in detecting prenatal cleft lip and palate: a systematic review[J]. Ultrasound Obstet Gynecol, 2010, 35(4): 495-502.
[17]
荆春丽,丁伟,孙寒冰,等. 超声在中孕期筛查胎儿唇裂及唇腭裂的价值[J/CD]. 中华医学超声杂志(电子版), 2013, 10(4): 286-288.
[18]
Wang LM, Leung KY, Tang M. Prenatal evaluation of facial clefts by three-dimensional extended imaging[J]. Prenat Diagn, 2007, 27(8): 722-729.
[19]
Bronshtein M, Blumenfeld I, Kohn J, et al. Detection of cleft lip by early second-trimester transvaginal sonography[J]. Obstet Gynecol, 1994, 84(1): 73-76.
[20]
Lee MS, Cho JY, Kim SY, et al. Value of sagittal color Doppler ultrasonography as a supplementary tool in the differential diagnosis of fetal cleft lip and palate[J]. Ultrasonography, 2017, 36(1): 53-59.
[21]
王薇薇,方建强,赵维安. 鼻唇冠状切面与常规三切面加特殊切面法超声在胎儿唇腭裂筛查中的应用[J]. 蚌埠医学院学报,2016, 41(1): 99-101.
[22]
Sepulveda W, Wong AE, Martinez-Ten P, et al. Retronasal triangle: a sonographic landmark for the screening of cleft palate in the first trimester[J]. Ultrasound Obstet Gynecol, 2010, 35(1): 7-13.
[23]
Li WJ, Wang XQ, Yan RL, et al. Clinical significance of first-trimester screening of the retronasal triangle for identification of primary cleft palate[J]. Fetal Diagn Ther, 2015, 38(2): 135-141
[24]
Wang G, Shan R, Zhao L, et al. Fetal cleft lip with and without cleft palate: comparison between MR imaging and US for prenatal diagnosis[J]. Eur J Radiol, 2011, 79(3): 437-442.
[25]
IPDTOC Working Group. Prevalence at birth of cleft lip with or without cleft palate: data from the International Perinatal Database of Typical Oral Clefts (IPDTOC)[J]. Cleft Palate Craniofac J, 2011, 48(1): 66-81.
[26]
Rollnick BR, Pruzansky S. Genetic services at a center for craniofacial anomalies[J]. Cleft Palate J, 1981, 18(4): 304-313.
[27]
Shaye D, Liu CC, Tollefson TT. Cleft lip and palate: an evidence-based review[J]. Facial Plast Surg Clin North Am, 2015, 23(3): 357-372.
[28]
Schönmeyr B, Wendby L, Campbell A. Early surgical complications after primary cleft lip repair: a report of 3 108 consecutive cases[J]. Cleft Palate Craniofac J, 2015, 52(6): 706-710.
[29]
Ha S, Koh KS, Moon H, et al. Clinical outcomes of primary palatal surgery in children with nonsyndromic cleft palate with and without lip[J]. Biomed Res Int, 2015, 2015: 185459.
[30]
Skuladottir H, Sivertsen A, Assmus J, et al. Hearing outcomes in patients with cleft lip/palate[J]. Cleft Palate Craniofac J, 2015, 52(2): e23-e31.
[31]
Lohmander A, Friede H, Lilja J. Long-term, longitudinal follow-up of individuals with unilateral cleft lip and palate after the Gothenburg primary early veloplasty and delayed hard palate closure protocol: speech outcome[J]. Cleft Palate Craniofac J, 2012, 49(6): 657-671.
[32]
刘冬静,王苹,王竹青,等. 后GWAS时代非综合征型唇腭裂致病基因的探索——从综合征型到非综合征型[J]. 中华流行病学杂志,2015, 36(11): 1319-1323.
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