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(%)]
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