Office of Clinical Epidemiology, Obstetrics and Gynecology Hospital of Fudan University, Shanghai, China.
Ultrasound Department, Obstetrics and Gynecology Hospital of Fudan University, Shanghai, China.
Acta Obstet Gynecol Scand. 2018 Feb;97(2):180-186. doi: 10.1111/aogs.13263. Epub 2017 Dec 14.
The aim of this study was to evaluate the value of absent fetal nasal bone in the prediction of fetal chromosomal abnormalities, according to whether it was associated with other soft markers or structural abnormalities in a prescreened population of Chinese pregnant women.
In this retrospective cohort study, women whose fetuses had absent nasal bone detected during the second trimester ultrasound scan were followed. Fetal karyotyping was performed and pregnancy outcomes were recorded. The association between absent fetal nasal bone with abnormal karyotype was evaluated according to whether soft markers or structural abnormalities were also observed.
Fetal nasal bone was assessed in 56 707 singleton pregnancies. After exclusion of unqualified cases, 71 (71/56 707, 0.13%) fetuses were included in the final analyses, of which 16 (16/71, 22.54%) were detected to have chromosomal abnormalities, including 12 cases of trisomy-21, three of trisomy-18, and one of micro-deletion (in 7q). Among the 42 cases with isolated absence of nasal bone, two had trisomy-21 and one had a micro-deletion. Absence of nasal bone in association with other structural abnormalities had a higher rate of abnormal karyotypes compared with isolated absence of nasal bone [83.33% (10/12) vs. 7.14% (3/42), Fisher's exact test χ = 25.620, p < 0.001].
Absent fetal nasal bone is a highly specific ultrasonographic soft marker that should be included in the routine second trimester ultrasound scan.
本研究旨在评估在经过预先筛选的中国孕妇人群中，当胎儿鼻骨缺失与其他软指标或结构异常同时存在时，其对预测胎儿染色体异常的价值。
在这项回顾性队列研究中，对在中孕期超声检查中发现胎儿鼻骨缺失的孕妇进行了随访。对胎儿进行了染色体核型分析，并记录了妊娠结局。根据是否同时存在软指标或结构异常，评估了胎儿鼻骨缺失与异常核型之间的关系。
在 56707 例单胎妊娠中评估了胎儿鼻骨。排除不合格病例后，最终有 71 例（71/56707，0.13%）胎儿纳入最终分析，其中 16 例（16/71，22.54%）检测出染色体异常，包括 12 例 21 三体、3 例 18 三体和 1 例 7q 微缺失。在 42 例孤立性鼻骨缺失中，有 2 例为 21 三体，1 例为微缺失。鼻骨缺失伴其他结构异常的胎儿染色体异常率高于孤立性鼻骨缺失[83.33%（10/12）比 7.14%（3/42），Fisher 确切检验 χ2=25.620，p<0.001]。
胎儿鼻骨缺失是一种高度特异性的超声软指标，应纳入中孕期常规超声检查。
