Roberts H E, Moore C A, Fernhoff P M, Brown A L, Khoury M J
Division of Birth Defects and Developmental Disabilities, National Center for Environmental Health, Centers for Disease Control and Prevention, Atlanta, Georgia 30333, USA.
Am J Med Genet. 1997 Jul 11;71(1):29-32. doi: 10.1002/(sici)1096-8628(19970711)71:1<29::aid-ajmg5>3.0.co;2-l.
Very little data are available from population-based studies on congenital hypothyroidism (CH) epidemiology and patterns of associated birth defects. By linking data from two population-based registries, we describe the epidemiology of CH and associated defects in Atlanta from 1979-1992. Cases included all infants with CH born from 1979-1992 to mothers residing in the metropolitan Atlanta area at the time of birth. We ascertained CH cases by reviewing newborn screening records and records of the Metropolitan Atlanta Congenital Defects Program (MACDP), a population-based registry of all serious birth defects diagnosed during a child's first year of life. We linked CH cases with MACDP records to ascertain the presence of serious birth defects among infants with CH. Of 97 infants identified with CH through newborn screening and/or MACDP (1:5,000 live births), 87 had primary CH and 10 had secondary. The rate of primary CH was higher among non-hispanic whites than among blacks (1:4,400 vs. 1:10,000) and among females compared with males (1:4,000 vs. 1:7,700). Among infants with primary CH, 77 had isolated CH, 3 had Down syndrome, and 7 had unrelated major structural defects. Based on Atlanta population rates of Down syndrome and major structural anomalies, we infer i) infants with Down syndrome have a 35-fold increased risk for primary CH compared with infants in the general population (P < .0001); ii) infants with primary CH have a 2.2-fold increased risk for major structural anomalies (P < .05). Because this is the first population study of CH in the United States in which data from two population-based registries were linked, the epidemiologic patterns and associated defects are more representative than those found in studies based on newborn screening records only.
基于人群的先天性甲状腺功能减退症（CH）流行病学及相关出生缺陷模式的研究数据非常有限。通过将两个基于人群的登记处的数据相链接，我们描述了1979年至1992年亚特兰大市CH及相关缺陷的流行病学情况。病例包括1979年至1992年出生时母亲居住在大亚特兰大地区的所有CH患儿。我们通过查阅新生儿筛查记录以及大亚特兰大先天性缺陷项目（MACDP）的记录来确定CH病例，MACDP是一个基于人群的登记处，记录了儿童出生后第一年诊断出的所有严重出生缺陷。我们将CH病例与MACDP记录相链接，以确定CH患儿中严重出生缺陷的存在情况。通过新生儿筛查和/或MACDP确定的97例CH患儿（1:5000活产）中，87例为原发性CH，10例为继发性CH。非西班牙裔白人中原发性CH的发病率高于黑人（1:4400 vs. 1:10000），女性高于男性（1:4000 vs. 1:7700）。在原发性CH患儿中，77例为单纯性CH，3例患有唐氏综合征，7例有不相关的主要结构缺陷。根据亚特兰大市唐氏综合征和主要结构异常的人群发病率，我们推断：i）与一般人群中的婴儿相比，唐氏综合征患儿患原发性CH的风险增加了35倍（P <.0001）；ii）原发性CH患儿患主要结构异常的风险增加了2.2倍（P <.05）。由于这是美国首次将两个基于人群的登记处的数据相链接进行的CH人群研究，其流行病学模式及相关缺陷比仅基于新生儿筛查记录的研究更具代表性。
