Screening time and detection rate of prenatal ultrasonography at different pregnancy trimesters for fetal congenital cleft lip and palate

doi:10.3877/cma.j.issn.1673-5250.2022.04.010

Objective

To investigate the clinical value of prenatal ultrasonography for the diagnosis of fetal congenital cleft lip and palate during 16-18 gestational weeks.

Methods

A total of 1 134 fetuses who underwent regular prenatal examination in Guangzhou Women and Children Medical Center from January 1, 2019 to June 30, 2020 were selected into this study. Nuchal translucency (NT) screening combined with median sagittal section of fetal face and posterior nasal triangle section were used in first trimester (11-13^{+ 6} gestational weeks). Congenital cleft lip and palate were scanned by coronal section of nasal lip and palatal axis section at 16-18 gestational weeks and 20-24 gestational weeks. The pregnancy outcomes of all patients were followed up and the detection rate of fetal cleft lip and palate by prenatal ultrasonography at different pregnancy trimesters were compared. Furthermore, 200 healthy fetuses who underwent regular prenatal examination at same hospital from July to December 2020 were selected to be screened for fetal congenital cleft lip and palate during 11-13^{+ 6}, 16-18, and 20-24 gestational weeks, respectively, and the success rate and examination time were recorded and compared. Intraclass correlation coefficient (ICC) was used to evaluate the consistency of the results between two operators. The procedure followed in this study was in line with the requirements of the Helsinki Declaration of the World Medical Association revised in 2013. Informed consent for clinical research was obtain from pregnant mothers of each fetus.

Results

① A total of 30 fetuses (2.6%, 30/1 134) were confirmed with congenital cleft lip and palate after birth or induced labor. Of these, 29 cases were confirmed by prenatal examination and 1 case was confirmed postnatally (isolated cleft palate). Among the 29 fetuses with congenital cleft lip and palate diagnosed by prenatal examination, 15 were live births and 14 were induced labor. ②The detection rates of congenital cleft lip and palate at 11-13^{+ 6}, 16-18, and 20-24 gestation weeks were 73.3% (22/30), 93.3% (28/30) and 93.8% (15/16), respectively. ③The ICC of the 200 pregnant women examined by two operators for congenital cleft lip and palate was 0.85 (95%CI: 0.80-0.91). ④ The completion rates of screening for congenital cleft lip and palate at 16-18 and 20-24 gestational weeks were 74.0% (148/200) and 90.0% (180/200), respectively, which were significantly higher than that at 11-13^{+ 6} gestational weeks (74.0%, 148/200), and all differences were statistically significant (χ²=17.344, P<0.001; χ²=37.961, P<0.001). The screening time for fetal congenital cleft lip and palate at 16-18 and 20-24 gestational weeks were (3.7±1.6) min and (2.9±1.4) min, respectively, which were significantly shorter than that at 11-13^{+ 6} gestational weeks [(13.1±3.6) min], and the difference was also statistically significant (t=27.598, P<0.001; t=30.513, P<0.001).

Conclusions

The detection of fetal congenital cleft lip and palate by prenatal ultrasound at 16-18 gestational weeks has the advantages of short time-consuming and high diagnostic rate.

Key words: Cleft lip, Cleft palate, Congenital abnormalities, Ultrasonography, prenatal, Prenatal diagnosis, Pregnancy trimester, first, Pregnancy trimester, second, Fetus

图4 胎龄为17^＋1周，1例先天性唇腭裂胎儿超声声像图[图4A：胎儿颜面部鼻唇冠状切面显示上唇连续性中断(箭头所示)；图4B：胎儿颜面部上牙槽骨轴切面显示上牙槽骨排列紊乱(箭头所示)；图4C：胎儿颜面部腭轴切面显示双侧腭裂(箭头所示)]

图5 1 134例先天性唇腭裂胎儿的诊断流程图

表1 200例不同胎龄胎儿超声检查先天性唇腭裂的完成率和检查时间比较

不同胎龄		例数	完成[例数(%)]	检查时间(min，±s)
11~13^＋6周		200	148(74.0)	13.1±3.6
16~18周		200	180(90.0)	3.7±1.6
20~24周		200	192(96.0)	2.9±1.4
总体比较
	统计量		χ²＝44.769	F＝687.868
	P值		<0.001	<0.001
11~13^＋6周 vs 16~18周
	统计量		χ²＝17.344	LSD-t＝27.598
	P值		<0.001	<0.001
11~13^＋6周 vs 20~24周
	统计量		χ²＝37.961	LSD-t＝30.513
	P值		<0.001	<0.001
16~18周 vs 20~24周
	统计量		χ²＝5.530	LSD-t＝3.631
	P值		0.019	<0.001

表1 200例不同胎龄胎儿超声检查先天性唇腭裂的完成率和检查时间比较

不同胎龄		例数	完成[例数(%)]	检查时间(min，±s)
11~13^＋6周		200	148(74.0)	13.1±3.6
16~18周		200	180(90.0)	3.7±1.6
20~24周		200	192(96.0)	2.9±1.4
总体比较
	统计量		χ²＝44.769	F＝687.868
	P值		<0.001	<0.001
11~13^＋6周 vs 16~18周
	统计量		χ²＝17.344	LSD-t＝27.598
	P值		<0.001	<0.001
11~13^＋6周 vs 20~24周
	统计量		χ²＝37.961	LSD-t＝30.513
	P值		<0.001	<0.001
16~18周 vs 20~24周
	统计量		χ²＝5.530	LSD-t＝3.631
	P值		0.019	<0.001

[1]	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. DOI: 10.1597/09-217.
[2]	中华医学会超声医学分会妇产超声学组．胎儿唇腭裂产前超声检查专家共识[J]. 中华超声影像学杂志，2021, 30(1) : 11-14. DOI: 10.3760/cma.j.cn131148-20201019-00821.
[3]	杨忠，邓学东，殷林亮，等．二维超声及三维超声多种成像技术在胎儿唇腭裂畸形诊断中的联合应用[J/OL].中华医学超声杂志(电子版)，2019，16(7):526-534. DOI：10.3877/cma.j.issn.1672-6448.2019.07.007.
[4]	Martinez-Ten P, Adiego B, Illescas T, et al. First-trimester diagnosis of cleft lip and palate using three-dimensional ultrasound[J]. Ultrasound Obstet Gynecol, 2012, 40(1): 40-46. DOI: 10.1002/uog.10139.
[5]	Chaoui R, Orosz G, Heling KS, et al. Maxillary gap at 11-13 weeks′ gestation: marker of cleft lip and palate[J]. Ultrasound Obstet Gynecol, 2015, 46(6): 665-669. DOI: 10.1002/uog.15675.
[6]	Sepulveda W, Wong AE, Martinez-Ten P, et al. Retronasal triangle: one graphic landmark for the screening of cleft palate in the first trimester[J]. J Ultrasound Obstet Gynecol, 2010, 35(1): 7-13. DOI：101002/uog7484.
[7]	De Robertis V, Rembouskos G, Fanelli T, et al. Cleft palate with or without cleft lip: the role of retronasal triangle view and maxillary gap at 11-14 weeks[J]. Fetal Diagn Ther, 2019, 46(6): 353-359. DOI：10.1159/000496842.
[8]	Lachmann R, Schilling U, Brückmann D, et al. Isolated cleft lip and palate: maxillary gap sign and palatino maxillary diameter at 11-13 weeks[J]. Fetal Diagn Ther, 2018, 44(4): 241-246. DOI: 10.1159/000481773.
[9]	刘剑锋，姜凡，顾莉莉，等．额上颌角联合上颌-鼻根-下颌角在早孕期胎儿颜面发育异常评估中的应用[J].中国医学影像学杂志，2020，28(6):471-474.DOI: 10.3969/j.issn.1005-5185.2020.06.017.
[10]	刘焕玲，黄星，苏小微，等. 早孕期胎儿唇腭裂的超声筛查及其与干扰素调节因子6基因多态性的相关性研究[J]. 中华生物医学工程杂志，2019, 25(2): 220-224. DOI: 10.3760/cma.j.issn.1674-1927.2019.02.017.
[11]	Karim JN, Roberts NW, Salomon LJ, et al. Systematic review of first-trimester ultrasound screening for detection of fetal structural anomalies and factors that affect screening performance[J]. Ultrasound Obstet Gynecol, 2017, 50(4): 429-441. DOI: 10.1002/uog.17246.
[12]	杨鑫，刘焕玲，李偲琦，等．孕16~18周超声检查在核型正常但颈项透明层增厚胎儿中的临床应用价值[J].中华围产医学杂志，2019，22(1):10-14. DOI：10.3760/cma.j.issn.1007-9408.2019.01.003.
[13]	中国医师协会超声医师分会．中国产科超声检查指南[M].北京：人民卫生出版社，2019：14-20.
[14]	Kenkhuis MJ, Bakker M, Bardi F, et al. Effectiveness of 12-13-week scan for early diagnosis of fetal congenital anomalies in the cell-free DNA era[J]. Ultrasound Obstet Gynecol, 2018, 51(4): 463-469. DOI：10.1002/uog.17487.
[15]	Kraus BS, Kitamura H, Ooe T. Malformations associated with cleft lip and palate in human embryos and fetuses[J]. Am J Obstet Gynecol, 1963, 86: 321-328. DOI：10.1016/0002-9378(63)90007-3.
[16]	侯磊，李介岩，王小新，等.100例唇腭裂胎儿的产前诊断结果分析[J].中华医学遗传学杂志，2018，35(5):634-637. DOI：10.3760/cma.j.issn.1003-9406.2018.05.003.

[1]	Fei Dai, Bowen Zhao, Mei Pan, Xiaohui Peng, Ran Chen, Yuanshi Tian, Ming Di. Value of multiple fetal echocardiographic quantitative parameters in assessing heart structure and function in fetuses with coarctation of the aorta[J]. Chinese Journal of Medical Ultrasound (Electronic Edition), 2024, 21(10): 950-958.
[2]	Zusheng Du, Bowen Zhao, Zhen Zhang, Mei Pan, Xiaohui Peng, Ran Chen, Yankai Mao. Impact of gestational age and apex orientation on left atrial strain assessed by two-dimensional speckle tracking imaging in normal fetuses during the second and third trimesters[J]. Chinese Journal of Medical Ultrasound (Electronic Edition), 2024, 21(09): 843-851.
[3]	Shangdi Zhang, Bowen Zhao, Mei Pan, Xiaohui Peng, Ran Chen, Yankai Mao, Yang Chen, Hua Yuan, Yan Chen. Value of quantitative fetal atrial size parameters in assessing cardiac malformations in fetuses with atrial disproportion in middle and late trimesters[J]. Chinese Journal of Medical Ultrasound (Electronic Edition), 2024, 21(08): 785-793.
[4]	Lili Gu, Fan Jiang. Survey and analysis of quality of screening prenatal ultrasound images in Anhui Province[J]. Chinese Journal of Medical Ultrasound (Electronic Edition), 2024, 21(07): 671-674.
[5]	Qiulian Wang, Ying Zhang, Chunmin Li, Shuming Xu, Yuqi Zhang. Prenatal ultrasound diagnosis of fetal aortic arch obstruction with complex intracardiac structural malformations: causes of missed diangosis and misdiagnosis[J]. Chinese Journal of Medical Ultrasound (Electronic Edition), 2024, 21(07): 718-725.
[6]	Qing Zeng, Huaxuan Wen, Ying Yuan, Yimei Liao, Yue Qin, Dandan Luo, Meiling Liang, Shengli Li. Sylvian fissure plateau angle: a new parameter to evaluate fetal sylvian fissure by transabdominal two-dimensional ultrasound[J]. Chinese Journal of Medical Ultrasound (Electronic Edition), 2024, 21(05): 454-459.
[7]	Gang Luo, Silin Pan, Lingyu Sun, Zhixin Li, Taotao Chen, Sibo Qiao, Shanchen Pang. Classification of right ventricular hypoplasia in fetuses diagnosed with pulmonary atresia with an intact ventricular septum or critical pulmonary stenosis via a new semantic parsing network model[J]. Chinese Journal of Medical Ultrasound (Electronic Edition), 2024, 21(04): 377-383.
[8]	Zhen Zhang, Bowen Zhao, Mei Pan, Xiaohui Peng, Ran Chen, Yuanshi Tian, Yang Chen. Evaluation of normal fetal right atrial function in the second and third trimester of pregancy by two-dimensional speckle tracking echocardiography: a preliminary study[J]. Chinese Journal of Medical Ultrasound (Electronic Edition), 2024, 21(04): 384-390.
[9]	Qing Zeng, Huaxuan Wen, Ying Yuan, Yimei Liao, Yue Qin, Dandan Luo, Meiling Liang, Guiyan Peng, Yi Lin, Ying Tan, Xin Wen, Wenlan Huang, Shengli Li. Clinical application of five axial planes of the fetal brain[J]. Chinese Journal of Medical Ultrasound (Electronic Edition), 2024, 21(03): 243-250.
[10]	Feng Xie, Yuhan Wu, Sheng Zhao, Xiaohong Yang, Yubo Wang, Zhen Shi, Jianhua Fan, Min Zhang. Combined use of prenatal ultrasound and magnetic resonance imaging in diagnosis of fetal dural sinus malformation[J]. Chinese Journal of Medical Ultrasound (Electronic Edition), 2024, 21(03): 275-280.
[11]	Yan Xu, Tong Ru, Mingming Zheng, Yan Gu, Xiangyu Zhu, Chenchen Yan, Ling Chen, Chenyan Dai. Prenatal ultrasound and MRI characteristics and genetic analysis of Miller-Dieker syndrome[J]. Chinese Journal of Medical Ultrasound (Electronic Edition), 2024, 21(03): 281-287.
[12]	Jingyu Qian, Mingming Zheng. Interpretation of the Italian guidelines on non-invasive and invasive prenatal diagnosis：executive summary of recommendations for practice the Italian Society for Obstetrics and Gynecology（SIGO）[J]. Chinese Journal of Obstetrics & Gynecology and Pediatrics(Electronic Edition), 2024, 20(05): 486-492.
[13]	Shaomin Wu, Shihao Zhang, Bingguang Liu, Chan Li, Jiamin Yin, Changye Zheng, Suran Huang. Fetal giant arachnoid cysts：a case report and literature review[J]. Chinese Journal of Obstetrics & Gynecology and Pediatrics(Electronic Edition), 2024, 20(04): 390-397.
[14]	Wenyan Song, Meijun Du, Jiali Chen, Bing Shi, Hanyao Huang. Research progress and prospective of biomaterial-based therapeutic approaches in pain management during the perioperative period of cleft lip and palate surgery[J]. Chinese Journal of Stomatological Research(Electronic Edition), 2024, 18(06): 397-405.
[15]	Ka Teng Chan, Meijun Du, Bing Shi, Hanyao Huang. The impact of maternal systemic diseases on the incidence of cleft lip and palate in newborns[J]. Chinese Journal of Stomatological Research(Electronic Edition), 2024, 18(04): 262-268.

Viewed

Full text

Abstract

Please choose a citation manager

Content to export