Chinese Medical E-ournals Database

Chinese Journal of Obstetrics & Gynecology and Pediatrics(Electronic Edition) ›› 2019, Vol. 15 ›› Issue (04): 389 -395. doi: 10.3877/cma.j.issn.1673-5250.2019.04.006

Special Issue:

Original Article

Prenatal transabdominal ultrasonography in diagnosing abnormal nasal bone development of in vitro fertilization-embryo transfer fetus: clinical values

Lang Qin1, Fumin Zhao2, Jiao Chen3,(), Hong Luo3, Fan Yang3, Yu Tian3, Houqing Pang3, Min He3, Hong Xu3, Ying Tang3, Lu Ye3   

  1. 1. Reproductive Medical Centre, 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
    2. Department of Radiology, West China Second University Hospital, Sichuan University, Chengdu 610041, Sichuan Province, China
    3. Department of Ultrasound, West China Second University Hospital, Sichuan University, Chengdu 610041, Sichuan Province, China
  • Received:2019-04-16 Revised:2019-07-16 Published:2019-08-01
  • Corresponding author: Jiao Chen
  • About author:
    Corresponding author: Chen Jiao, Email:
  • Supported by:
    National Key Research and Development Plan Project(2017YFC0113905); Key Research and Development Project of Science and Technology Department of Sichuan Province(2019YFS0403, 2016FZ0061); Popularization and Application Project of Health and Family Planning Commission of Sichuan Province(17PJ415, 16PJ234)
Objective

To evaluate the clinical value of prenatal transabdominal ultrasonography in diagnosing abnormal nasal bone development in fetuses undergoing in vitro fertilization-embryo transfer (IVF-ET).

Methods

From January 2015 to March 2019, a total of 4 360 cases of IVF-ET fetuses who received prenatal transabdominal ultrasonography in West China Second University Hospital, Sichuan University were selected as research subjects. Retrospective analysis method was used to collect transabdominal ultrasound images, chromosome karyotype analysis results and 6-month postnatal follow-up of fetuses with abnormal nasal bone development diagnosed by prenatal transabdominal ultrasonography. The incidences of chromosomal abnormality in fetuses with bilateral and unilateral abnormal nasal bone development, isolated and non-isolated abnormal nasal bone development were compared by chi-square test, respectively. This study was consistent with the requirements of the World Medical Association Declaration of Helsinki revised in 2013.

Results

①Among the 4 360 cases of IVF-ET fetuses in this study, 104 cases (2.4%, 104/4 360) had chromosomes abnormality. There were 168 cases (3.9%, 168/4 360) of abnormal nasal bone development, including 102 cases of singleton, 66 cases (33 pairs) of twins, and 67 cases (1.5%, 67/4 360) were combined with chromosome abnormality, including 62 cases of 21-trisomy syndrome and 5 cases of 18-trisomy syndrome. ②Among the IVF-ET fetuses in this study, the sensitivity, specificity and crude accuracy of IVF-ET fetal abnormal nasal bone development in predicting fetal chromosome abnormality were 64.4%, 97.6% and 96.8%, respectively. ③Among the 61 cases of fetuses with non-isolated abnormal nasal bone development, 22 cases (36.1%) were combined with fetal nuchal translucency (NT) thickening, and 39 cases (63.9%) were combined with other structural malformations. The incidences of chromosome abnormality of IVF-ET fetuses with bilateral and unilateral abnormal nasal bone development were 41.5% (44/106) and 38.7% (24/62), respectively, and the difference was not statistically significant (χ2=0.127, P=0.722). The incidences of chromosome abnormality of IVF-ET fetuses with isolated and non-isolated abnormal nasal bone development were 38.3% (41/107) and 44.3% (27/61), respectively, and the difference was not statistically significant (χ2=0.570, P=0.450).

Conclusions

The specificity and crude accuracy of prenatal transabdominal ultrasonography in diagnosis of abnormal nasal bone development of IVF-ET fetuses are good. The prenatal transabdominal sonographic diagnosis of abnormal nasal bone development in IVF-ET fetuses is helpful to indicate fetal chromosome abnormality, and clinical attention should be paid to the prenatal ultrasonography of nasal bone of IVF-ET fetus.

图1 双侧鼻骨缺失伴21-三体综合征胎儿引产前、后胎儿超声声像图(图1A:胎儿胎龄为13+3周时,经腹胎儿超声正中矢状切面检查结果显示,胎儿颈项透明层增厚,鼻梁皮肤下方未显示鼻骨强回声;图1B:胎儿胎龄为14周时,引产后胎儿浅表超声眼眶横切面检查结果未显示双侧鼻骨回声,证实胎儿双侧鼻骨缺失,胚胎组织染色体核型分析结果提示为21-三体综合征胎儿)
图2 双侧鼻骨缺失、染色体核型正常胎儿出生前、后三维超声图及头部X射线摄片图(图2A:胎儿胎龄为23+2周时,三维经腹胎儿超声骨骼成像模式未显示胎儿双侧鼻骨回声,鼻部无回声区呈"葫芦形",羊水穿刺胎儿染色体核型分析结果无异常;图2B:生后5 d头部X射线摄片检查结果未显示鼻骨)
表1 采用IVF-ET胎儿鼻骨发育异常预测胎儿染色体异常的结果(例)
表2 本组168例鼻骨发育异常胎儿的染色体异常分析结果
表3 61例不同非孤立性鼻骨发育异常类型胎儿的染色体异常分布[例数(%)]
表4 不同鼻骨发育异常类型胎儿的染色体异常发生率比较[例数(%)]
[1]
Davies MJ, Moore VM, Willson KJ, et al. Reproductive technologies and the risk of birth defects[J]. N Engl J Med, 2012, 366(19): 1803-1813.
[2]
李莎,张云山. 辅助生殖技术与自然妊娠子代出生缺陷研究[J]. 中国全科医学,2018, 21(36): 4424-4438.
[3]
Vos FI, de Jong-Pleij EA, Bakker M, et al. Fetal facial profile markers of Down syndrome in the second and third trimesters of pregnancy[J]. Ultrasound Obstet Gynecol, 2015, 46(2): 168-173.
[4]
Kagan KO, Sonek J, Berg X, et al. Facial markers in second- and third-trimester fetuses with trisomy 18 or 13, triploidy or Turner syndrome[J]. Ultrasound Obstet Gynecol, 2015, 46(1): 60-65.
[5]
Agathokleous M, Chaveeva P, Poon LC, et al. Meta-analysis of second-trimester markers for trisomy 21[J]. Ultrasound Obstet Gynecol, 2013, 41(3): 247-261.
[6]
Sonek JD, Cicero S, Neiger R, et al. Nasal bone assessment in prenatal screening for trisomy 21[J]. Am J Obstet Gynecol, 2006, 195(5): 1219-1230.
[7]
Ting YH, Lao TT, Lau TK,et al. Isolated absent or hypoplastic nasal bone in the second trimester fetus: is amniocentesis necessary?[J]. J Matern Fetal Neonatal Med, 2011, 24(4): 555-558.
[8]
Papasozomenou P, Athanasiadis AP, Zafrakas M, et al. Fetal nasal bone length in the second trimester: comparison between population groups from different ethnic origins[J]. J Perinat Med, 2016, 44(2): 229-235.
[9]
Sandikcioglu M, Mølsted K, Kjaer I. The prenatal development of the human nasal and vomeral bones[J]. J Craniofac Genet Dev Biol, 1994, 14(2): 124-134.
[10]
Shrestha A, Pradhan S, Tuladhar AS, et al. Normal fetal nasal bone length at 14 to 28 weeks of gestation[J]. Nepal Med Coll J, 2014, 16(2-4): 152-155.
[11]
Guis F, Ville Y, Vincent S, et al. Ultrasound evaluation of the length of the fetal nasal bones throughout gestation[J].Ultrasound Obstet Gynecol, 1995, 5(5): 304-307.
[12]
Böhlandt S, von Kaisenberg CS, Wewetzer K, et al. Hyaluronan in the nuchal skin of chromosomally abnormal fetuses[J]. Hum Repros, 2000, 15(5): 1155-1158.
[13]
Down LJ. Observation on an ethnic classification of idiots[J]. Ment Retard, 1995, 33(1): 54-56.
[14]
Alldred SK, Takwoingi Y, Guo BL, et al. First trimester ultrasound tests alone or in combination with first trimester serum tests for Down′s syndrome screening[J]. Cochrane Database Syst Rev, 2017, 3: CD012600.
[15]
Du Y, Ren YY, Yan YL, et al. Absent fetal nasal bone in the second trimester and risk of abnormal karyotype in a prescreened population of Chinese women[J]. Acta Obstet Gynecol Scand, 2018, 97(2): 180-186.
[16]
Nemescu D, Bratie A, Mihaila A, et al. First trimester combined screening for fetal aneuploidies enhanced with additional ultrasound markers: an 8-year prospective study[J]. Ginekol Pol, 2018, 89(4): 206-211.
[17]
Canda MT, Demir N, Sezer O. Fetal nasal bone length as a novel marker for prediction of adverse perinatal outcomes in the first-trimester of pregnancy[J]. Balkan Med J, 2017, 34(2): 127-131.
[18]
Sonek JD, Cicero S, Neiger R, et al. Nasal bone assessment in prenatal screening for trisomy 21[J]. Am J Obstet Gynecol, 2006, 195(5): 1219-1230.
[19]
Agathokleous M, Chaveeva P, Poon LC, et al. Meta-analysis of second-trimester markers for trisomy 21[J]. Ultrasound Obstet Gynecol, 2013, 41(3): 247-261.
[20]
Papasozomenou P, Athanasiadis AP, Zafrakas M, et al. Screening performance of different methods defining fetal nasal bone hypoplasia as a single and combined marker for the detection of trisomy 21 in the second trimester[J]. J Matern Fetal Neonatal Med, 2016, 29(20): 3368-3373.
[21]
谢红宁,朱云晓,李丽娟,等. 对妊娠中晚期孕妇行超声检测胎儿鼻骨发育状况以筛查唐氏综合征[J]. 中华妇产科杂志,2008, 43(3): 171-174.
[22]
Mazzoni GT Jr, Cabral AC, de Lima Faria MM, et al. Ultrasound evaluation of the fetal nasal bone: what is the most appropriate first-trimester cut-off point for aneuploidy screening?[J]. Arch Gynecol Obstet, 2012, 285(5): 1263-1270.
[23]
刘彦英,陈青,赵晓虹,等. 孤立性鼻骨发育异常预测21-三体胎儿[J]. 中国医学影像技术,2015, 31(1): 95-97.
[24]
李洁,栗河舟,张红彬,等. 探讨实时三维超声诊断胎儿鼻骨发育异常的染色体价值[J]. 中国妇幼保健,2014, 29(14): 2264-2266.
[25]
梁耀园,马小燕,黄苑铭,等. 三维超声OmniView在妊娠早期诊断鼻骨缺失的临床价值[J]. 海南医学,2015, 2 6(12): 1768-1772.
[26]
Papasozomenou P, Athanasiadis AP, Zafrakas M, et al. Three-dimensional versus two-dimensional ultrasound for fetal nasal bone evaluation in the second trimester[J]. J Matern Fetal Neonatal Med, 2015, 28(12): 1432-1437.
[27]
代晶,郄明蓉,余海燕. 产前超声诊断胎儿股骨短小的研究进展[J/CD]. 中华妇幼临床医学杂志(电子版), 2014, 10(3): 379-382.
[28]
韩瑾,张蒙,甄理,等. 18-三体综合征胎儿的产前诊断结果分析[J/CD]. 中华妇幼临床医学杂志(电子版), 2016, 12(2): 190-195.
[1] Xining Wu, Yunshu Ouyang, Yixiu Zhang, Hua Meng, Zhonghui Xu, Peipei Zhang, Ke Lyu. Application of fetal echocardiography in prenatal management of fetuses with positive maternal anti-SSA/Ro-SSB/La antibodies[J]. Chinese Journal of Medical Ultrasound (Electronic Edition), 2023, 20(10): 1056-1060.
[2] Shuihua Yang, Guidan He, Guican Qin, Mengfeng Liang, Yanhe Luo, Xueqin Li, Juansong Tang. Echocardioimagedata characteristics of fetal isolated total anomalous pulmonary venous connection and application of high definition flow imaging and spatio-temporal image correlation[J]. Chinese Journal of Medical Ultrasound (Electronic Edition), 2023, 20(10): 1061-1067.
[3] Jingjing Zhang, Bowen Zhao, Mei Pan, Xiaohui Peng, Yankai Mao, Chenke Pan, Lingyan Zhu, Linlin Zhu, Qiuye Lan. Evaluation of fetal pulmonary development using McGoon index measured by fetal echocardiography[J]. Chinese Journal of Medical Ultrasound (Electronic Edition), 2023, 20(08): 860-865.
[4] Peng Xu, Jun Li, Weilun Gao, Zheng Wang, Shen Pang, Chunni Li, Ting Zhu. Application of fast rotary scanning method in fetal echocardiography[J]. Chinese Journal of Medical Ultrasound (Electronic Edition), 2023, 20(07): 761-766.
[5] Gang Luo, Silin Pan, Taotao Chen, Qian Xu, Zhixian Ji, Sibao Wang, Lingyu Sun. Application of echocardiography in fetal cardiac intervention of pulmonary atresia with intact ventricular septum[J]. Chinese Journal of Medical Ultrasound (Electronic Edition), 2023, 20(06): 605-609.
[6] Jia Huang, Hua Shi, Yuguo Zhang, Jiaqi Hu, Qian Chen. Ultrasonographic features of normal and abnormal fetal left brachiocephalic vein and their clinical significance[J]. Chinese Journal of Medical Ultrasound (Electronic Edition), 2023, 20(06): 610-617.
[7] Ze Yuan, Li Zhuang. Value of ultrasound detection of fetal umbilical artery and middle cerebral artery blood flow in diagnosis of fetal intrauterine distress[J]. Chinese Journal of Medical Ultrasound (Electronic Edition), 2023, 20(06): 618-621.
[8] Lei Liu, Xin Yang, Xiaohua Xu, Shengmou Lin, Chuqin Xiong, Lilu Nong, Zhenyu Dong, Shengli Li. Measurement of fetal prenasal thickness and nasal bone length as a screening tool for trisomy 21, 18, and 13 in the second trimester of pregancy[J]. Chinese Journal of Medical Ultrasound (Electronic Edition), 2023, 20(05): 506-510.
[9] Bo Li, Dexuan Kong, Fanghua Peng, Wenying Wu. Value of ultrasound in diagnosis of fetal anomalous pulmonary venous connection[J]. Chinese Journal of Medical Ultrasound (Electronic Edition), 2023, 20(04): 437-441.
[10] Yanjuan Bao, Xiaohong Yang, Xinghai Yang, Sheng Zhao, Fan Yang, Shengbao Pan, Xiaoyan Zhang. Ultrasound combined with magnetic resonance imaging and computed tomography for diagnosis of retroperitoneal fetus-in-fetu[J]. Chinese Journal of Medical Ultrasound (Electronic Edition), 2023, 20(03): 265-271.
[11] Juan Gu, Qingqing Sun, Fangfang Hu, Yijuan Cao, Yujuan Qi. Clinical application of endometrial receptivity array to improve pregnancy outcomes in women with repeated embryo implantation failure[J]. Chinese Journal of Obstetrics & Gynecology and Pediatrics(Electronic Edition), 2023, 19(05): 582-587.
[12] Chao Xue, Ye Zhang, Ying Zhao, Jiancheng Han, Xiaoyan Gu, Lin Sun, Xiaowei Liu, Wei Song, Yihua He. Ultrasonographic characteristics and prognosis of fetal congenital absent pulmonary valve syndrome[J]. Chinese Journal of Obstetrics & Gynecology and Pediatrics(Electronic Edition), 2023, 19(04): 410-418.
[13] Yuting Wei, Hong Luo. Current research status of ultrasound elastography on evaluation of fetal growth restriction[J]. Chinese Journal of Obstetrics & Gynecology and Pediatrics(Electronic Edition), 2023, 19(03): 256-260.
[14] Wen Zhang, Yanchun Zhang, Kaibo Liu, Hongyan Xu. Prenatal MRI diagnosis and perinatal outcome of fetal congenital hydrocephalus in Beijing[J]. Chinese Journal of Obstetrics & Gynecology and Pediatrics(Electronic Edition), 2023, 19(03): 345-349.
[15] Yanli Zou, Wenjie Luan, Shujuan Wang, Yaqin Liu, Guizhi Chu, Songyang Li, Haoling Wang, Jinting Zhang, Xin Jiang, Zedong Luan. Ultrasonographic features of fetal right aortic arch in the first trimester[J]. Chinese Journal of Diagnostics(Electronic Edition), 2023, 11(04): 227-232.
Viewed
Full text


Abstract