Rydberg Catharina, Tunón Katarina
Department of Clinical Science, Obstetrics and Gynecology, Unit of Obstetrics and Gynecology-Östersund, Umeå University, Umeå, Sweden.
Department of Clinical Science, Obstetrics & Gynecology, Unit of Obstetrics and Gynecology, Umeå University, Umeå, Sweden.
Acta Obstet Gynecol Scand. 2017 Feb;96(2):176-182. doi: 10.1111/aogs.13037. Epub 2016 Nov 22.
This study assessed the sensitivity of routine ultrasound examination for the detection of abnormal chromosomes and structural malformations in fetuses in the second trimester in a non-selected population.
Prenatal diagnoses of fetal abnormalities in 10 414 fetuses and newborns were reviewed and compared with all postnatal diagnoses of congenital abnormalities between 2006 and 2013.
Overall, 243 fetuses and newborns had confirmed congenital abnormalities, with a prevalence of 2.3%. Of these fetuses and newborns, 23% (56/243) had chromosomal abnormalities (overall prevalence 0.5%), and 77% (187/243) had normal chromosomes with either major (44%; 82/187) or minor (56%; 105/187) structural malformations (overall prevalence 1.8%). One hundred and seven abnormalities were detected prenatally, yielding a total sensitivity for prenatal detection of fetal abnormalities of 44.0% (107/243; 95% CI 37.8-50.2), with specificity of 99.9%, a positive predictive value of 94.7%, and a negative predictive value of 98.7%. The sensitivity for prenatal detection before 22 weeks of gestation was 40.3% (98/243; 95% CI 34.1-46.5). The prenatal detection rate of chromosomal abnormalities was 60.7% (34/56) and, for structural malformations, was 39.0% (73/187).
In a routine clinical setting at a county hospital with a non-selected population, half of the major structural malformations in chromosomally normal fetuses are detected by routine ultrasound examination in the second trimester. Chromosomal abnormalities have the highest probability for prenatal detection; the majority are diagnosed by amniocentesis before the routine ultrasound examination in high-risk women.
本研究评估了在未经过筛选的人群中，常规超声检查对孕中期胎儿染色体异常和结构畸形的检测敏感性。
回顾了10414例胎儿及新生儿的产前诊断，并与2006年至2013年间所有先天性异常的产后诊断进行比较。
总体而言，243例胎儿及新生儿确诊为先天性异常，患病率为2.3%。在这些胎儿及新生儿中，23%（56/243）有染色体异常（总体患病率0.5%），77%（187/243）染色体正常但有严重（44%；82/187）或轻微（56%；105/187）结构畸形（总体患病率1.8%）。产前检测出107例异常，胎儿异常产前检测的总敏感性为44.0%（107/243；95%可信区间37.8 - 50.2），特异性为99.9%，阳性预测值为94.7%，阴性预测值为98.7%。妊娠22周前产前检测的敏感性为40.3%（98/243；95%可信区间34.1 - 46.5）。染色体异常的产前检测率为60.7%（34/56），结构畸形的产前检测率为39.0%（73/187）。
在县级医院未经过筛选的人群的常规临床环境中，孕中期常规超声检查可检测出染色体正常胎儿中一半的严重结构畸形。染色体异常产前检测的概率最高；大多数是在高危女性常规超声检查前通过羊膜穿刺术诊断出来的。
