Screening for congenital hypothyroidism

Results of screening one million North American infants

Delbert A. Fisher, Jean H. Dussault, Thomas P. Foley, Alan H. Klein, Stephen Lafranchi, P. Reed Larsen, Marvin L. Mitchell, William H. Murphey, Paul G. Walfish

Research output: Contribution to journalArticle

272 Citations (Scopus)

Abstract

Pilot programs for screening of newborn infants for congenital hypothyroidism began in North America in 1972. To date, the five oldest programs (Quebec, Pittsburgh, Toronto, Oregon Regional, and New England Regional) have screened 1,046,362 infants. A total of 277 infants with congenital hypothyroidism have been detected and seven have been missed, resulting in a total of 284 affected infants in the screened population and an overall incidence of one in 3,684 live births. Of the affected infants, 246 were determined to have primary hypothyroidism, an incidence of one in 4,254 births. Ten infants with secondary-tertiary hypothyroidism were detected in Quebec, Oregon, and Toronto, an incidence of one in 68,200 births. Of all the infants with primary hypothyroidism who were adequately studied, 63% were determined to have aplastic or hypoplastic glands, 14% normal or enlarged glands, and 23% ectopic thyroid tissue. The estimated minimum incidence of infants with TBG deficiency is one in 8,913 births. Only 8 of the 277 detected infants were suspected clinically to have congenital hypothyroidism prior to the time of confirmation of the diagnosis at 4 to 8 weeks of age. The cost of screening varied from $0.70 to $1.60 per infant, depending on which costs were included in the estimate. Preliminary evidence from Quebec suggests that infants treated in the program have normal developmental testing scores at 18 months of age.

Original languageEnglish (US)
Pages (from-to)700-705
Number of pages6
JournalThe Journal of Pediatrics
Volume94
Issue number5
DOIs
StatePublished - 1979

Fingerprint

Congenital Hypothyroidism
Quebec
Hypothyroidism
Incidence
Parturition
Thyroid Dysgenesis
Costs and Cost Analysis
Neonatal Screening
Choristoma
New England
Live Birth
North America

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Fisher, D. A., Dussault, J. H., Foley, T. P., Klein, A. H., Lafranchi, S., Larsen, P. R., ... Walfish, P. G. (1979). Screening for congenital hypothyroidism: Results of screening one million North American infants. The Journal of Pediatrics, 94(5), 700-705. https://doi.org/10.1016/S0022-3476(79)80133-X

Screening for congenital hypothyroidism : Results of screening one million North American infants. / Fisher, Delbert A.; Dussault, Jean H.; Foley, Thomas P.; Klein, Alan H.; Lafranchi, Stephen; Larsen, P. Reed; Mitchell, Marvin L.; Murphey, William H.; Walfish, Paul G.

In: The Journal of Pediatrics, Vol. 94, No. 5, 1979, p. 700-705.

Research output: Contribution to journalArticle

Fisher, DA, Dussault, JH, Foley, TP, Klein, AH, Lafranchi, S, Larsen, PR, Mitchell, ML, Murphey, WH & Walfish, PG 1979, 'Screening for congenital hypothyroidism: Results of screening one million North American infants', The Journal of Pediatrics, vol. 94, no. 5, pp. 700-705. https://doi.org/10.1016/S0022-3476(79)80133-X
Fisher, Delbert A. ; Dussault, Jean H. ; Foley, Thomas P. ; Klein, Alan H. ; Lafranchi, Stephen ; Larsen, P. Reed ; Mitchell, Marvin L. ; Murphey, William H. ; Walfish, Paul G. / Screening for congenital hypothyroidism : Results of screening one million North American infants. In: The Journal of Pediatrics. 1979 ; Vol. 94, No. 5. pp. 700-705.
@article{60bd8e823a484001aacadae2f06d2d09,
title = "Screening for congenital hypothyroidism: Results of screening one million North American infants",
abstract = "Pilot programs for screening of newborn infants for congenital hypothyroidism began in North America in 1972. To date, the five oldest programs (Quebec, Pittsburgh, Toronto, Oregon Regional, and New England Regional) have screened 1,046,362 infants. A total of 277 infants with congenital hypothyroidism have been detected and seven have been missed, resulting in a total of 284 affected infants in the screened population and an overall incidence of one in 3,684 live births. Of the affected infants, 246 were determined to have primary hypothyroidism, an incidence of one in 4,254 births. Ten infants with secondary-tertiary hypothyroidism were detected in Quebec, Oregon, and Toronto, an incidence of one in 68,200 births. Of all the infants with primary hypothyroidism who were adequately studied, 63{\%} were determined to have aplastic or hypoplastic glands, 14{\%} normal or enlarged glands, and 23{\%} ectopic thyroid tissue. The estimated minimum incidence of infants with TBG deficiency is one in 8,913 births. Only 8 of the 277 detected infants were suspected clinically to have congenital hypothyroidism prior to the time of confirmation of the diagnosis at 4 to 8 weeks of age. The cost of screening varied from $0.70 to $1.60 per infant, depending on which costs were included in the estimate. Preliminary evidence from Quebec suggests that infants treated in the program have normal developmental testing scores at 18 months of age.",
author = "Fisher, {Delbert A.} and Dussault, {Jean H.} and Foley, {Thomas P.} and Klein, {Alan H.} and Stephen Lafranchi and Larsen, {P. Reed} and Mitchell, {Marvin L.} and Murphey, {William H.} and Walfish, {Paul G.}",
year = "1979",
doi = "10.1016/S0022-3476(79)80133-X",
language = "English (US)",
volume = "94",
pages = "700--705",
journal = "Journal of Pediatrics",
issn = "0022-3476",
publisher = "Mosby Inc.",
number = "5",

}

TY - JOUR

T1 - Screening for congenital hypothyroidism

T2 - Results of screening one million North American infants

AU - Fisher, Delbert A.

AU - Dussault, Jean H.

AU - Foley, Thomas P.

AU - Klein, Alan H.

AU - Lafranchi, Stephen

AU - Larsen, P. Reed

AU - Mitchell, Marvin L.

AU - Murphey, William H.

AU - Walfish, Paul G.

PY - 1979

Y1 - 1979

N2 - Pilot programs for screening of newborn infants for congenital hypothyroidism began in North America in 1972. To date, the five oldest programs (Quebec, Pittsburgh, Toronto, Oregon Regional, and New England Regional) have screened 1,046,362 infants. A total of 277 infants with congenital hypothyroidism have been detected and seven have been missed, resulting in a total of 284 affected infants in the screened population and an overall incidence of one in 3,684 live births. Of the affected infants, 246 were determined to have primary hypothyroidism, an incidence of one in 4,254 births. Ten infants with secondary-tertiary hypothyroidism were detected in Quebec, Oregon, and Toronto, an incidence of one in 68,200 births. Of all the infants with primary hypothyroidism who were adequately studied, 63% were determined to have aplastic or hypoplastic glands, 14% normal or enlarged glands, and 23% ectopic thyroid tissue. The estimated minimum incidence of infants with TBG deficiency is one in 8,913 births. Only 8 of the 277 detected infants were suspected clinically to have congenital hypothyroidism prior to the time of confirmation of the diagnosis at 4 to 8 weeks of age. The cost of screening varied from $0.70 to $1.60 per infant, depending on which costs were included in the estimate. Preliminary evidence from Quebec suggests that infants treated in the program have normal developmental testing scores at 18 months of age.

AB - Pilot programs for screening of newborn infants for congenital hypothyroidism began in North America in 1972. To date, the five oldest programs (Quebec, Pittsburgh, Toronto, Oregon Regional, and New England Regional) have screened 1,046,362 infants. A total of 277 infants with congenital hypothyroidism have been detected and seven have been missed, resulting in a total of 284 affected infants in the screened population and an overall incidence of one in 3,684 live births. Of the affected infants, 246 were determined to have primary hypothyroidism, an incidence of one in 4,254 births. Ten infants with secondary-tertiary hypothyroidism were detected in Quebec, Oregon, and Toronto, an incidence of one in 68,200 births. Of all the infants with primary hypothyroidism who were adequately studied, 63% were determined to have aplastic or hypoplastic glands, 14% normal or enlarged glands, and 23% ectopic thyroid tissue. The estimated minimum incidence of infants with TBG deficiency is one in 8,913 births. Only 8 of the 277 detected infants were suspected clinically to have congenital hypothyroidism prior to the time of confirmation of the diagnosis at 4 to 8 weeks of age. The cost of screening varied from $0.70 to $1.60 per infant, depending on which costs were included in the estimate. Preliminary evidence from Quebec suggests that infants treated in the program have normal developmental testing scores at 18 months of age.

UR - http://www.scopus.com/inward/record.url?scp=0018390505&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0018390505&partnerID=8YFLogxK

U2 - 10.1016/S0022-3476(79)80133-X

DO - 10.1016/S0022-3476(79)80133-X

M3 - Article

VL - 94

SP - 700

EP - 705

JO - Journal of Pediatrics

JF - Journal of Pediatrics

SN - 0022-3476

IS - 5

ER -