The purpose of this study is to calculate the ratios of fetal limb bone to nasal bone length (NBL) obtained by transabdominal ultrasound between 19 and 28 weeks of gestation. Cross-sectional data were obtained from 14...The purpose of this study is to calculate the ratios of fetal limb bone to nasal bone length (NBL) obtained by transabdominal ultrasound between 19 and 28 weeks of gestation. Cross-sectional data were obtained from 1408 women with singleton pregnancies who underwent an advanced prenatal ultrasound examination from August 2006 to September 2008. The single measurement plane of fetal limb bones was on the longest section of each structure with appropriate image magnification. To assess repeatability of the intraobserver, two repeated measurements were obtained in 44 fetuses. The ratio of fetuses with biparietal diameter (BPD)/NBL was compared with those of fetal limb bones/NBL. The mean ratio was found between fetal NBL measurements and BPD (7.240), humerus length (HL) (4.807), radius length (RL) (4.157), ulna length (UL) (4.502), femur length (FL) (5.131), tibia length (TL) (4.528), and fibula length (FiL) (4.507). The reference ranges of fetal long bone length/NBL ratios for the second trimester was established by transabdominal sonography. There were no significant increases in these ratios with gestational age, especially the HL/NBL ratio.展开更多
目的分析孕中期胎儿鼻骨发育异常与其染色体及全基因组拷贝数变异(copy number variations,CNVs)的相关性,探讨是否可以将鼻骨发育异常作为与胎儿染色体CNVs有关的面部畸形指标。方法选取2016年1月至2023年6月以胎儿鼻骨异常为产前诊断...目的分析孕中期胎儿鼻骨发育异常与其染色体及全基因组拷贝数变异(copy number variations,CNVs)的相关性,探讨是否可以将鼻骨发育异常作为与胎儿染色体CNVs有关的面部畸形指标。方法选取2016年1月至2023年6月以胎儿鼻骨异常为产前诊断指征于新疆医科大学第一附属医院产前诊断中心做羊水穿刺的16~27周孕中期孕妇46例,以是否合并其他指标异常,分为孤立性鼻骨发育异常组和非孤立性鼻骨发育异常组,将各组的产前诊断结果进行回顾性分析。结果(1)检出染色体核型异常共9例,异常率19.56%,检出CNVs异常共15例,其中致病性的异常有10例,致病性CNVs异常率21.73%;(2)孤立性鼻骨发育异常组33例中4例染色体核型异常,异常率12.12%,致病性CNVs 2例,合计异常率18.18%;非孤立性鼻骨发育异常组的13例中,有5例染色体核型异常,异常率38.46%。结论鼻骨发育异常合并其它指标异常,尤其是合并高龄、NT异常时应考虑胎儿非整倍体染色体病。孤立性鼻骨发育异常虽不与非整倍体染色体病有直接相关性,但仍需考虑与染色体拷贝数异常相关,建议行产前诊断明确。展开更多
文摘The purpose of this study is to calculate the ratios of fetal limb bone to nasal bone length (NBL) obtained by transabdominal ultrasound between 19 and 28 weeks of gestation. Cross-sectional data were obtained from 1408 women with singleton pregnancies who underwent an advanced prenatal ultrasound examination from August 2006 to September 2008. The single measurement plane of fetal limb bones was on the longest section of each structure with appropriate image magnification. To assess repeatability of the intraobserver, two repeated measurements were obtained in 44 fetuses. The ratio of fetuses with biparietal diameter (BPD)/NBL was compared with those of fetal limb bones/NBL. The mean ratio was found between fetal NBL measurements and BPD (7.240), humerus length (HL) (4.807), radius length (RL) (4.157), ulna length (UL) (4.502), femur length (FL) (5.131), tibia length (TL) (4.528), and fibula length (FiL) (4.507). The reference ranges of fetal long bone length/NBL ratios for the second trimester was established by transabdominal sonography. There were no significant increases in these ratios with gestational age, especially the HL/NBL ratio.
文摘目的分析孕中期胎儿鼻骨发育异常与其染色体及全基因组拷贝数变异(copy number variations,CNVs)的相关性,探讨是否可以将鼻骨发育异常作为与胎儿染色体CNVs有关的面部畸形指标。方法选取2016年1月至2023年6月以胎儿鼻骨异常为产前诊断指征于新疆医科大学第一附属医院产前诊断中心做羊水穿刺的16~27周孕中期孕妇46例,以是否合并其他指标异常,分为孤立性鼻骨发育异常组和非孤立性鼻骨发育异常组,将各组的产前诊断结果进行回顾性分析。结果(1)检出染色体核型异常共9例,异常率19.56%,检出CNVs异常共15例,其中致病性的异常有10例,致病性CNVs异常率21.73%;(2)孤立性鼻骨发育异常组33例中4例染色体核型异常,异常率12.12%,致病性CNVs 2例,合计异常率18.18%;非孤立性鼻骨发育异常组的13例中,有5例染色体核型异常,异常率38.46%。结论鼻骨发育异常合并其它指标异常,尤其是合并高龄、NT异常时应考虑胎儿非整倍体染色体病。孤立性鼻骨发育异常虽不与非整倍体染色体病有直接相关性,但仍需考虑与染色体拷贝数异常相关,建议行产前诊断明确。
