False-positive reporting of Down syndrome on Ohio and New York birth certificates. 1985

K M Johnson, and C A Huether, and E B Hook, and C A Crowe, and B A Reeder, and A Sommer, and M M McCorquodale, and P K Cross

Although correction for underreporting of congenital malformations on birth certificates is included in most studies, inaccuracy of reporting has not been widely examined. Two separate investigations were conducted on the inaccuracy of Down syndrome (DS) reporting on birth certificates; ie, false-positive cases in which an individual coded as DS did not in fact have DS. In Ohio, 824 individuals were coded as DS on their birth certificate during 1970-1981. Of these, a definitive determination as to whether or not they had DS was made on 778 by using cytogenetic data, medical records, the state's birth defects registry, school records, and by questioning physicians. Fifty-seven false-positives were found, indicating a 7.8% level of coding inaccuracy for all races and 6.9% for whites only. Nine of these arose from miscodings during data processing; 48 were misdiagnosed as DS. This can be contrasted with false-negatives also studied in Ohio, where 66.1% of DS cases were not reported on the birth certificate. No statistical differences were observed between false-positives and true DS in the distribution of sexes, in population size of county of birth, or in year of birth (although there was a declining false-positive rate over the 12 year period). The percentage of DS false-positives, however, was significantly higher for younger maternal ages (greater than or equal to 30 years) than older ones (greater than or equal to 30 years) and for nonwhites compared to whites. Further, there was a strong negative correlation between the percentage of false-positives and the degree of certainty expressed in reporting DS on the birth certificate.

UI MeSH Term Description Entries
D007231 Infant, Newborn An infant during the first 28 days after birth. Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D008297 Male Males
D008423 Maternal Age The age of the mother in PREGNANCY. Age, Maternal,Ages, Maternal,Maternal Ages
D008875 Middle Aged An adult aged 45 - 64 years. Middle Age
D009518 New York State bounded on the north by Lake Ontario and Canada, on the east by Vermont, Massachusetts, and Connecticut, on the south by the Atlantic Ocean, New Jersey, and Pennsylvania, and on the west by Pennsylvania, Lake Erie, and Canada.
D009820 Ohio State bounded on the north by Michigan and Lake Erie, on the east by Ohio River and Pennsylvania, on the south by Ohio River, and on the west by Indiana.
D001719 Birth Certificates Official certifications by a physician recording the individual's birth date, place of birth, parentage and other required identifying data which are filed with the local registrar of vital statistics. Birth Records,Birth Certificate,Birth Record,Certificate, Birth,Certificates, Birth,Record, Birth,Records, Birth
D004314 Down Syndrome A chromosome disorder associated either with an extra CHROMOSOME 21 or an effective TRISOMY for chromosome 21. Clinical manifestations include HYPOTONIA, short stature, BRACHYCEPHALY, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, single transverse palmar crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213) Mongolism,Trisomy 21,47,XX,+21,47,XY,+21,Down Syndrome, Partial Trisomy 21,Down's Syndrome,Partial Trisomy 21 Down Syndrome,Trisomy 21, Meiotic Nondisjunction,Trisomy 21, Mitotic Nondisjunction,Trisomy G,Downs Syndrome,Syndrome, Down,Syndrome, Down's
D004812 Epidemiologic Methods Research techniques that focus on study designs and data gathering methods in human and animal populations. Epidemiologic Method,Epidemiological Methods,Methods, Epidemiologic,Epidemiological Method,Method, Epidemiologic,Method, Epidemiological,Methods, Epidemiological
D005188 False Negative Reactions Negative test results in subjects who possess the attribute for which the test is conducted. The labeling of diseased persons as healthy when screening in the detection of disease. (Last, A Dictionary of Epidemiology, 2d ed) False Negative Reaction,Reaction, False Negative,Reactions, False Negative

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