Thirty-Year Lessons from the Newborn Screening for Congenital Adrenal Hyperplasia (CAH) in Japan
Abstract
:1. Introduction
2. Screening System in Japan
3. Clinical Outcomes of the Newborn Screening for CAH in Japan
3.1. The Effects of the Screening
3.2. The Progression of Salt Wasting during the First Two Weeks of Life
3.3. Triage of the Neonates with Salt Wasting by Body Weight Change
4. Potential Issues of Testing Practices in the Newborn Screening for CAH in Japan
4.1. The Timeline of the Newborn Screening for 21OHD
4.2. High Rate of False Positive
4.3. LC-MS/MS Analysis of 17αOHP as a Second-Tier Test and Diagnostic Test for 21OHD
5. Database Composition and Improvement of Screening Program
Author Contributions
Funding
Data Availability Statement
Acknowledgments
Conflicts of Interest
Abbreviations
17αOHP | 17-Hydroxyprogesterone |
yrs | Years |
CAH | Congenital adrenal hyperplasia |
CH | Congenital hypothyroidism |
PKU | Phenylketonuria |
GAL | Galactosemia |
AAD | Disorders of amino acid metabolism |
OA | Disorders of organic acid metabolism |
FAOD | Disorders of fatty acid metabolism |
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<Criteria According to the Gestational Age> | |||||
---|---|---|---|---|---|
Gestational age at birth (weeks) *1a | ≤29 | 30–34 | 35–36 | ≥37 | |
Corrected gestational age (weeks) *1b | ≤31 | 32–35 | 36–37 | ≥38 | |
<Criteria According to Weight> *2,*3 | |||||
Body weight (g) | ≤999 | 1000–1999 | 2000–2499 | ≥2500 | |
Cutoff level of 17αOHP [n·mol/L] | Retest *4 | 60 | 45 | 24 | 15 |
Positive *5 | 60 | 60 | 60 |
Before CAH Screening * | After CAH Screening ** | |||||
---|---|---|---|---|---|---|
Male | Female | Total | Male | Female | Total | |
SW type | 63 days (120) | 47 days (96) | 55 days (216) | 9.0 days (55) | 6.2 days (45) | 7.6 days (100) |
SV type | 5.0 yrs (39) | 6.5 yrs (150) | 6.4 yrs (189) |
Countries *1 | Approximate Population (Million) | Screening Panel | Interval Birth-Sampling | Interval Sampling Analysis | ||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CAH | CH | PKU | GAL | AAD, OA, FAOD | <48 h | 48–72 h | 72–96 h | >96 h | 1 d | 2 d | 3 d | 4 d | 5 d | >6 d | ||
Austria | 8.8 | x *2 | x | x | x | >6 | x | x | x | x | x | |||||
Belgium | 10.5 | x | x | x | x | >6 | x | x | x | x | ||||||
Denmark | 5.6 | x | x | x | x | >6 | x | x | x | |||||||
France | 67 | x | x | x | x | P *2 | x | x | x | |||||||
Germany | 80 | x | x | x | x | >6 | x | x | x | x | ||||||
Netherlands | 17.8 | x | x | x | x | >6 | x | x | x | x | ||||||
Spain | 46.5 | x | x | x | P | >6 | x | x | x | x | x | x | x | |||
Sweden | 10 | x | x | x | x | >6 | x | x | x | x | ||||||
Switzerland | 8.1 | x | x | x | x | 1–6 | x | x | ||||||||
Finland | 5.5 | x | x | >6 | x *4 | x | x | x | x | x | x | x | ||||
Greece | 10.5 | x | x | x | x | x | ||||||||||
Hungary | 10 | x | x | x | >6 | x | x | x | ||||||||
Ireland | 4.9 | x | x | x | x | x | x | x | ||||||||
Italy | 60.5 | x | x | P | P | x | x | x | x | x | ||||||
Norway | 5.3 | x | x | >6 | x | x | ||||||||||
Portugal | 10.3 | x | x | >6 | x | x | x | x | ||||||||
U.K. | 66.6 | x | x | 1–6 | x | x | x | |||||||||
U.S. *3 | 328.2 | 50/50 | 50/50 | 50/50 | 50/50 | 50/50 | x | x | x | |||||||
JPN | 126.3 | x | x | x | x | >6 | x | x | x | x |
Screening Positive Cutoff Level | |||||
---|---|---|---|---|---|
Prefecture | Saitama | Sapporo | Tokyo | ||
Criteria A *2,*3 | Criteria B *2,*3 | ||||
17αOHP (ng/mL) | Term birth | >20 | >20 | >5 | >5 |
Preterm birth | >30 | >50 | |||
21DOF (ng/mL) | >1.0 | >2.0 | >1.0 | ||
(17αOHP + 4AD)/F | >2.0 | ||||
11DOF/17αOHP | <0.1 | ||||
Retest Cutoff Level | |||||
Prefecture | Saitama *2 | Sapporo *2 | Tokyo *2 | ||
17αOHP (ng/mL) | >1.0 | >2.5 | >1.5 | ||
(17αOHP + 4AD)/F | >0.1 | >0.1 | >0.3 | ||
11DOF/17αOHP | <0.3 | <0.2 | <0.3 |
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Tsuji-Hosokawa, A.; Kashimada, K. Thirty-Year Lessons from the Newborn Screening for Congenital Adrenal Hyperplasia (CAH) in Japan. Int. J. Neonatal Screen. 2021, 7, 36. https://doi.org/10.3390/ijns7030036
Tsuji-Hosokawa A, Kashimada K. Thirty-Year Lessons from the Newborn Screening for Congenital Adrenal Hyperplasia (CAH) in Japan. International Journal of Neonatal Screening. 2021; 7(3):36. https://doi.org/10.3390/ijns7030036
Chicago/Turabian StyleTsuji-Hosokawa, Atsumi, and Kenichi Kashimada. 2021. "Thirty-Year Lessons from the Newborn Screening for Congenital Adrenal Hyperplasia (CAH) in Japan" International Journal of Neonatal Screening 7, no. 3: 36. https://doi.org/10.3390/ijns7030036