A study of 534 fetal pathology cases from prenatal diagnosis referrals analyzed from 1989 through 2000

作者：Laury Anna; Sanchez Lara Pedro A; Pepkowitz Samuel; Graham John M Jr^*

来源：American Journal of Medical Genetics, Part A, 2007, 143A(24): 3107-3120.

DOI：10.1002/ajmg.a.32094

• fetal autopsy
• fetal pathology
• stillbirth
• fetal loss
• chromosome anomalies
• fetal hydrops
• fetal malformations
• prenatal diagnosis

Useful and meaningful counseling following the discovery of a fetal loss or fetal anomalies requires an accurate diagnosis. in order to achieve this, our center utilized a multidisciplinary approach which included an ultrasonographer, perinatologist, genetic counselor, dysmorphologist, clinical geneticist, and pathologist. in this article, we report our experience with the analysis and evaluation of 534 cases seen between 1989 and 2000. In total, we were able to identify the cause of fetal loss in 369 cases (69%). In 98/369 cases (18.4%) the condition was attributed to a Mendelian process and in 78 (14.6%), to chromosomal abnormalities. The overall average maternal age was 31.6 years, the maternal age in cases of chromosomal abnormality was slightly higher (33.3 years). Our findings described below reiterate the clinical usefulness of a team specifically trained in the approach to fetal loss and/or fetal anomalies.

• 出版日期2007-12-15
• 单位河北医科大学