PMID- 32580148
OWN - NLM
STAT- MEDLINE
DCOM- 20200817
LR  - 20220415
IS  - 1479-683X (Electronic)
IS  - 0804-4643 (Linking)
VI  - 183
IP  - 3
DP  - 2020 Sep
TI  - Critical evaluation of the newborn screening for congenital hypothyroidism in the 
      Netherlands.
PG  - 265-273
LID - EJE-19-1048 [pii]
LID - 10.1530/EJE-19-1048 [doi]
AB  - OBJECTIVE: Congenital hypothyroidism (CH) is defined as thyroid hormone 
      deficiency at birth due to disorders of the thyroid gland (thyroidal CH, CH-T), 
      or the hypothalamus or pituitary (central CH, CH-C). The Dutch Newborn Screening 
      (NBS) strategy is primarily based on determination of thyroxine (T4) 
      concentrations in dried blood spots followed, if necessary, by 
      thyroid-stimulating hormone (TSH) and thyroxine-binding globulin (TBG) 
      measurement enabling detection of both CH-T and CH-C. A calculated T4/TBG ratio 
      serves as an indirect measure for free T4. A T4/TBG ratio </= 17 in a second heel 
      puncture is suggestive of CH-C. DESIGN AND METHODS: In the present study, we 
      evaluated 11 years of Dutch CH NBS using a database of referred cases by 
      assessing the contribution of each criterion in the unique stepwise T4-TSH-TBG 
      NBS algorithm. RESULTS: Between 2007 and the end of 2017, 1 963 465 newborns were 
      screened in the Netherlands. Use of the stepwise algorithm led to 3044 referrals 
      and the identification of 612 CH cases, consisting of 496 CH-T, 86 CH-C, and 30 
      CH of unknown origin diagnoses. We detected 62.8% of CH-C cases by the T4/TBG 
      ratio in the second heel puncture. The positive predictive value (PPV) of the 
      stepwise T4-TSH-TBG NBS algorithm was 21.0%. CONCLUSION: This evaluation shows 
      that the Dutch stepwise T4-TSH-TBG NBS algorithm with a calculated T4/TBG ratio 
      is of great value for the detection of both CH-T and CH-C in the Netherlands, at 
      the cost of a lower PPV compared to TSH-based NBS strategies.
FAU - Stroek, Kevin
AU  - Stroek K
AD  - Endocrinology Laboratory, Department of Clinical Chemistry, Amsterdam 
      Gastroenterology & Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam, 
      the Netherlands.
FAU - Heijboer, Annemieke C
AU  - Heijboer AC
AD  - Endocrinology Laboratory, Department of Clinical Chemistry, Amsterdam 
      Gastroenterology & Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam, 
      the Netherlands.
AD  - Endocrinology Laboratory, Department of Clinical Chemistry, Amsterdam 
      Gastroenterology & Metabolism, Amsterdam UMC, Vrije Universiteit, Amsterdam, the 
      Netherlands.
FAU - Bouva, Marelle J
AU  - Bouva MJ
AD  - Reference Laboratory Neonatal Screening, Center for Health protection, National 
      Institute for Public Health and the Environment, Bilthoven, the Netherlands.
FAU - van der Ploeg, Catharina P B
AU  - van der Ploeg CPB
AD  - Netherlands Organization for Applied Scientific Research TNO, Department of Child 
      Health, Leiden, the Netherlands.
FAU - Heijnen, Marie-Louise A
AU  - Heijnen MA
AD  - Center for Population Screening, National Institute for Public Health and the 
      Environment, Bilthoven, the Netherlands.
FAU - Weijman, Gert
AU  - Weijman G
AD  - Department of Vaccine Supply and Prevention, National Institute for Public Health 
      and the Environment, Bilthoven, the Netherlands.
FAU - Bosch, Annet M
AU  - Bosch AM
AD  - Division of Metabolic Disorders, Department of Pediatrics, Amsterdam UMC, 
      University of Amsterdam, Amsterdam, the Netherlands.
FAU - de Jonge, Robert
AU  - de Jonge R
AD  - Department of Clinical Chemistry, Amsterdam UMC, Vrije Universiteit & University 
      of Amsterdam, Amsterdam, the Netherlands.
FAU - Schielen, Peter C J I
AU  - Schielen PCJI
AD  - Reference Laboratory Neonatal Screening, Center for Health protection, National 
      Institute for Public Health and the Environment, Bilthoven, the Netherlands.
FAU - van Trotsenburg, A S Paul
AU  - van Trotsenburg ASP
AD  - Department of Paediatric Endocrinology, Emma Children's Hospital, Amsterdam UMC, 
      University of Amsterdam, Amsterdam, the Netherlands.
FAU - Boelen, Anita
AU  - Boelen A
AD  - Endocrinology Laboratory, Department of Clinical Chemistry, Amsterdam 
      Gastroenterology & Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam, 
      the Netherlands.
LA  - eng
PT  - Journal Article
PL  - England
TA  - Eur J Endocrinol
JT  - European journal of endocrinology
JID - 9423848
SB  - IM
MH  - Algorithms
MH  - Congenital Hypothyroidism/*diagnosis
MH  - Databases, Factual
MH  - Female
MH  - Humans
MH  - Hypothalamus/pathology
MH  - Infant, Newborn
MH  - Male
MH  - Neonatal Screening/*methods
MH  - Netherlands
MH  - Pituitary Gland/pathology
MH  - Thyroid Function Tests
MH  - Thyroid Gland/pathology
EDAT- 2020/06/25 06:00
MHDA- 2020/08/18 06:00
CRDT- 2020/06/25 06:00
PHST- 2020/01/20 00:00 [received]
PHST- 2020/06/18 00:00 [accepted]
PHST- 2020/06/25 06:00 [pubmed]
PHST- 2020/08/18 06:00 [medline]
PHST- 2020/06/25 06:00 [entrez]
AID - EJE-19-1048 [pii]
AID - 10.1530/EJE-19-1048 [doi]
PST - ppublish
SO  - Eur J Endocrinol. 2020 Sep;183(3):265-273. doi: 10.1530/EJE-19-1048.