Woodward A, Alves S, Butler M G
Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tenn.
South Med J. 1993 Jan;86(1):42-5. doi: 10.1097/00007611-199301000-00010.
We reviewed genetics charts of 2235 patients seen from 1985 to 1990 at Vanderbilt University Medical Center, Nashville, Tennessee, and summarized the 20 most common reasons for referral (occurring in 1138 of the patients) and the diagnoses or conditions among patients receiving genetic services in one of four clinical settings (prenatal counseling clinics, general genetics clinics, outreach genetics clinics, and ward consultations). The five most common reasons for referral were advanced maternal age (> or = 35 years) (203/1138, or 18% of patients), followed by dysmorphic features/multiple congenital anomalies (MCA) (185/1138; 16%), developmental delay/mental retardation (MR) (168/1138; 15%), Down's syndrome (103/1138; 9%), and abnormal maternal serum alpha-fetoprotein (MSAFP) (74/1138; 7%). The five most common diagnoses or conditions identified for all genetics patients were advanced maternal age (> or = 35 years) (195/906; 22%), developmental delay/MR (111/906; 12%), dysmorphic features/MCA (107/906; 12%), Down's syndrome (88/906; 10%), and multiple fetal losses (57/906; 6%). Of the 20 most common diagnoses or conditions categorized in 602 of the 906 patients, a multifactorial cause was observed in 25% of those patients; a chromosomal cause was observed in 26% of cases of Down's syndrome, accounting for 55% of the chromosomal disorders; a single gene disorder was observed in 17% of patients; an environmental cause was seen in 4%; and an unknown cause was noted in 28%. We hope this study will help physicians in middle Tennessee and surrounding areas by increasing their awareness of the types and frequencies of genetic diseases so that misdiagnoses and delayed referrals can be avoided.
我们回顾了1985年至1990年期间在田纳西州纳什维尔范德比尔特大学医学中心就诊的2235例患者的遗传学图表，并总结了转诊的20个最常见原因（1138例患者出现）以及在四个临床环境之一（产前咨询诊所、普通遗传学诊所、外展遗传学诊所和病房会诊）接受遗传服务的患者中的诊断或病症。转诊的五个最常见原因是高龄产妇（≥35岁）（203/1138，占患者的18%），其次是畸形特征/多发先天性异常（MCA）（185/1138；16%）、发育迟缓/智力障碍（MR）（168/1138；15%）、唐氏综合征（103/1138；9%）和孕妇血清甲胎蛋白（MSAFP）异常（74/1138；7%）。为所有遗传学患者确定的五个最常见诊断或病症是高龄产妇（≥35岁）（195/906；22%）、发育迟缓/MR（111/906；12%）、畸形特征/MCA（107/906；12%）、唐氏综合征（88/906；10%）和多次胎儿丢失（57/906；6%）。在906例患者中的602例分类的20个最常见诊断或病症中，25%的患者观察到多因素病因；在26%的唐氏综合征病例中观察到染色体病因，占染色体疾病的55%；17%的患者观察到单基因疾病；4%的患者观察到环境病因；28%的患者病因不明。我们希望这项研究能够通过提高田纳西州中部及周边地区医生对遗传疾病类型和频率的认识，帮助他们避免误诊和转诊延迟。
