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目的:研究单胎畸形发生的种类及不同孕周超声检查对畸形检出率的影响。方法:回顾性分析南京医科大学第一附属医院2010年1月—2015年10月22 563例住院孕妇中360例单胎妊娠中发现胎儿畸形的临床资料,从畸形种类、所属系统、筛查方式、首次畸形检出时间等方面进行研究。结果:(1)胎儿畸形发生顺位是心脏畸形(74/22 563,0.328%);颜面部畸形(51/22 563,0.226%);多发畸形(51/22 563,0.226%)。(2)单发畸形中前3位是唇腭裂(36/22 563,0.160%);多指趾/并指趾畸形(35/22 563,0.155%);21-三体综合征(27/22 563,0.120%)。(3)不同孕周超声筛查检出率:仅早孕期超声筛出胎儿畸形28例(28/360,7.8%),仅中孕期超声筛出胎儿畸形149例(149/360,41.4%),仅晚孕期超声筛出胎儿畸形43例(43/360,11.9%)。(4)仅产后体格检查发现畸形儿108例(108/360,30.0%),前3位分别为多指趾/并指趾畸形(32/108,29.6%),颜面部畸形(24/108,22.2%),心脏畸形(16/108,14.8%)。(5)孕期合并其他疾病时发生胎儿畸形的风险增加。结论:增强早孕期超声检查有利于及早发现胎儿畸形,并给予合适的临床干预;加强晚孕期超声检查有利于减少胎儿畸形漏诊的发生并发现胎儿生长发育的异常;产后新生儿生命体征评估和体格检查有利于及早发现畸形儿。
Objective: To study the types of uniphoric deformities and the effect of different gestational weeks on the detection rate of deformity. Methods: A retrospective analysis of the clinical data of 360 fetuses with singleton pregnancies found in 22 563 hospitalized pregnant women in First Affiliated Hospital of Nanjing Medical University from January 2010 to October 2015 was conducted. From the deformity category, the affiliated system, the screening method , The first abnormality detection time and other aspects of research. Results: (1) The incidence of fetal malformations was cardiac deformity (74/22 563,0.328%); facial deformities (51/22 563,0.226%); multiple deformities (51/22 563,0.226%). (2) The first three cases of single malformations were cleft lip and palate (36/22 563,0.160%), multiple finger toe and digit deformities (35/22 563,0.155%), trisomy 21 (27 / 22 563, 0.120%). (3) The detection rate of ultrasound screening in different gestational weeks: only 28 cases (28 / 360,7.8%) were screened by ultrasound in the first trimester, 149 cases (149 / 360,41.4%) fetus fetal malformations were screened during the second trimester only Only 43 cases of fetal malformations were screened by ultrasound during the first trimester (43/360 and 11.9%). (4) 108 cases (108/360%, 30.0%) were diagnosed as postnatal physical examination only. The first three cases were multi-digit toe and deformity (32/108 and 29.6% , 22.2%), heart malformations (16/108, 14.8%). (5) increased risk of fetal malformations during pregnancy combined with other diseases. Conclusion: To enhance early pregnancy ultrasound examination is helpful to detect fetal malformations early and to give appropriate clinical intervention; to strengthen the ultrasound examination in late pregnancy is conducive to reduce the occurrence of fetal malformations missed diagnosis and found fetal growth and development abnormalities; postpartum neonatal vital signs assessment and physical Check is conducive to early detection of deformed children.