title: Newborn screening for congenital adrenal hyperplasia in Tokyo, Japan from 1989 to 2013: a retrospective population-based study.
abstract: BACKGROUND
  Congenital adrenal hyperplasia (CAH) cause life-threatening adrenal crisis. It also affects fetal sex development and can result in incorrect sex assignment at birth. In 1989, a newborn screening program for congenital adrenal hyperplasia (CAH) was introduced in Tokyo. Here we present the results of this screening program in order to clarify the efficiency of CAH screening and the incidence of CAH in Japan.
  
  
  METHODS
  From 1989 to 2013, a total of 2,105,108 infants were screened for CAH. The cutoff level for diagnosis of CAH was adjusted for gestational age and birth weight.
  
  
  RESULTS
  A total of 410 infants were judged positive, and of these, 106 patients were diagnosed with CAH, indicating a positive predictive value (PPV) of 25.8 %. Of the 106 patients, 94 (88.7 %) were diagnosed with 21-OHD. Of these 94 patients, 73 were diagnosed with the salt wasting form, 14 with the simple virilising form and 7 with the nonclassical form (NC21OHD). The mean birth weight and gestational age were 3192 ± 385 g and 38.9 ± 1.38 weeks. 11 out of 44 female patients were assigned as female according to their screening result.
  
  
  CONCLUSIONS
  These data suggest that the newborn screening in Tokyo was effective, especially for sex assignment and preventing fatal adrenal crisis. The incidence of CAH was similar to that measured in previous Japanese screening studies, and it was also similar to that of western countries. The incidence of NC21OHD in Japan in the present study was lower than that in western countries as previous studies reported. The screening program achieved higher PPV than previous CAH screening studies, which might be due to the use of variable cutoffs according to gestational age and birth weight. However, most of the neonates born at 37 weeks or less that were referred to hospital were false-positives. Further changes are needed to reduce the number of false positive preterm neonates.
authors.affiliation: Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Tokyo, Japan. ahchanxt@gmail.com.
authors.forename: Atsumi
authors.initials: A
authors.lastname: Tsuji
authors.affiliation: Tokyo Health Service Association, Newborn Screening, Tokyo, Japan. thsa-screening@mrj.biglobe.ne.jp.
authors.forename: Kaoru
authors.initials: K
authors.lastname: Konishi
authors.affiliation: Tokyo Health Service Association, Newborn Screening, Tokyo, Japan. thsa-screening@mrj.biglobe.ne.jp.
authors.forename: Satomi
authors.initials: S
authors.lastname: Hasegawa
authors.affiliation: Tokyo Health Service Association, Newborn Screening, Tokyo, Japan. thsa-screening@mrj.biglobe.ne.jp.
authors.forename: Akira
authors.initials: A
authors.lastname: Anazawa
authors.affiliation: Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Tokyo, Japan. toshikazuonishi@gmail.com.|Kinki Central Hospital, Hyogo, Japan. toshikazuonishi@gmail.com.
authors.forename: Toshikazu
authors.initials: T
authors.lastname: Onishi
authors.affiliation: Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Tokyo, Japan. mono-endo@umin.ac.jp.
authors.forename: Makoto
authors.initials: M
authors.lastname: Ono
authors.affiliation: Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Tokyo, Japan. tmorio.ped@tmd.ac.jp.
authors.forename: Tomohiro
authors.initials: T
authors.lastname: Morio
authors.affiliation: Tokyo Health Service Association, Newborn Screening, Tokyo, Japan. thsa-screening@mrj.biglobe.ne.jp.
authors.forename: Teruo
authors.initials: T
authors.lastname: Kitagawa
authors.affiliation: Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Tokyo, Japan. kkashimada.ped@tmd.ac.jp.|Tokyo Health Service Association, Newborn Screening, Tokyo, Japan. kkashimada.ped@tmd.ac.jp.
authors.forename: Kenichi
authors.initials: K
authors.lastname: Kashimada
mesh_terms: D019326:17-alpha-Hydroxyprogesterone / Q000097:blood; D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis / Q000453:epidemiology*; D001724:Birth Weight; D005865:Gestational Age; D006801:Humans; D015994:Incidence; D007231:Infant, Newborn; D015997:Neonatal Screening / Q000379:methods; D011237:Predictive Value of Tests; D012189:Retrospective Studies; D014041:Tokyo / Q000453:epidemiology
chemical_list: D019326:17-alpha-Hydroxyprogesterone