What's New

Last Posted: Oct 19, 2023

• Exploring factors impacting haplotype-based noninvasive prenatal diagnosis for single-gene recessive disorders.
  Lingrong Kong et al. Clin Genet 2023
• Evaluation of newborn screening in the state of Mato Grosso from 2005 to 2019.
  Roseli Divino Costa et al. Rev Paul Pediatr 2023 42e2022161
• Cost-effective genotyping for classical congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) in resource-poor settings: multiplex ligation probe amplification (MLPA) with/without sequential next-generation sequencing (NGS).
  Ana Monteiro et al. Hormones (Athens, Greece) 2023
• Caring for a Child with Congenital Adrenal Hyperplasia Diagnosed by Newborn Screening: Parental Health-Related Quality of Life, Coping Patterns, and Needs.
  Laura Rautmann et al. International journal of environmental research and public health 2023 20(5)
• Allele-specific and multiplex PCR based tools for cost-effective and comprehensive genetic testing in Congenital Adrenal Hyperplasia.
  Ravichandran Lavanya et al. MethodsX 2022 9101748
• Clinical, biochemical, and biomolecular aspects of congenital adrenal hyperplasia in a group of Cameroonian children and adolescents.
  Ngo Um Suzanne Sap et al. Journal of pediatric endocrinology & metabolism : JPEM 2022
• 20 YEARS OF NEONATAL SCREENING FOR CONGENITAL ADRENAL HYPERPLASIA IN NORTH-EASTERN ITALY: ROLE OF LC-MS/MS AS A SECOND TIER TEST.
  Cavarzere Paolo et al. Hormone research in paediatrics 2022
• Allele-specific PCR and next generation sequencing based genetic screening for Congenital Adrenal Hyperplasia in India.
  Ravichandran Lavanya et al. European journal of medical genetics 2021 104369
• Impact of Newborn Screening on Clinical Presentation of Congenital Adrenal Hyperplasia.
  Navardauskaite Ruta et al. Medicina (Kaunas, Lithuania) 2021 57(10)
• Access to fludrocortisone and to hydrocortisone in children with congenital adrenal hyperplasia in the WHO Eastern Mediterranean Region: it takes a village….
  Rowlands Amanda et al. BMJ global health 2021 6(10)
• Establishing a new screening 17 hydroxyprogesterone cut-off value and evaluation of the reliability of the long intramuscular ACTH stimulation test in the diagnosis of nonclassical congenital adrenal hyperplasia.
  Cengiz H et al. European review for medical and pharmacological sciences 2021 25(16) 5235-5240
• Genetic Analysis of Pediatric Primary Adrenal Insufficiency of Unknown Etiology: 25 Years' Experience in the UK.
  Buonocore Federica et al. Journal of the Endocrine Society 2021 5(8) bvab086
• Second-tier testing for 21-hydroxylase deficiency in the Netherlands; a newborn screening pilot study.
  Stroek Kevin et al. The Journal of clinical endocrinology and metabolism 2021
• The Cost-Effectiveness of Congenital Adrenal Hyperplasia Newborn Screening in Brazil: A Comparison Between Screened and Unscreened Cohorts.
  de Miranda Mirela Costa et al. Frontiers in pediatrics 2021 9659492
• [Newborn screening for congenital adrenal hyperplasia in France].
  Kariyawasam Dulanjalee et al. Medecine sciences : M/S 2021 37(5) 500-506
• [The role of Public Health as a key to the success of the neonatal screening program in the Basque Country.]
  Espada Sáenz-Torre Mercedes et al. Revista espanola de salud publica 2020 Dec 94
• Challenges in Assessing the Cost-Effectiveness of Newborn Screening: The Example of Congenital Adrenal Hyperplasia.
  Grosse Scott D et al. International journal of neonatal screening 2020 Oct 6(4)
• Landscape of Congenital Adrenal Hyperplasia Newborn Screening in the United States.
  Edelman Sari et al. International journal of neonatal screening 2020 Aug 6(3)
• Newborn Screening for Congenital Adrenal Hyperplasia: Review of Factors Affecting Screening Accuracy.
  Held Patrice K et al. International journal of neonatal screening 2020 Aug 6(3)
• CAH Newborn Screening in India: Challenges and Opportunities.
  Dabas Aashima et al. International journal of neonatal screening 2020 Aug 6(3)
• Evaluation of a Two-Tier Screening Pathway for Congenital Adrenal Hyperplasia in the New South Wales Newborn Screening Programme.
  Lai Fei et al. International journal of neonatal screening 2020 Aug 6(3)
• Update on the Swedish Newborn Screening for Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.
  Zetterström Rolf H et al. International journal of neonatal screening 2020 Aug 6(3)
• The Success of a Screening Program Is Largely Dependent on Close Collaboration between the Laboratory and the Clinical Follow-Up of the Patients.
  Lajic Svetlana et al. International journal of neonatal screening 2020 Sep 6(3) 68
• Newborn Screening Protocols and Positive Predictive Value for Congenital Adrenal Hyperplasia Vary across the United States.
  Speiser Phyllis W et al. International journal of neonatal screening 2020 Jun 6(2)
• Combined Gestational Age- and Birth Weight-Adjusted Cutoffs for Newborn Screening of Congenital Adrenal Hyperplasia.
  Pode-Shakked Naomi et al. The Journal of clinical endocrinology and metabolism 2019 104(8) 3172-3180
• Outcome of Newborn Screening for Congenital Adrenal Hyperplasia at Two Time Points.
  Eshragh Nazaneen et al. Hormone research in paediatrics 2020 Jul 1-9
• EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency.
  Baumgartner-Parzer Sabina et al. European journal of human genetics : EJHG 2020 Jul
• Newborn screening-detected 21-hydroxylase deficiency: growth pattern is not associated with the genotype.
  David Jan et al. Minerva pediatrica 2020 Jun
• Storage stability of five steroids and in dried blood spots for newborn screening and retrospective diagnosis of congenital adrenal hyperplasia.
  Grecsó Nóra et al. PloS one 2020 15(5) e0233724
• Endocrine components of newborn screening.
  Russell Melissa et al. Current problems in pediatric and adolescent health care 2020 May 100772
• Clinical perspectives in congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase type 2 deficiency.
  Al Alawi Abdullah M et al. Endocrine 2019 63(3) 407-421
• Genetic profiling of CAH Egyptian children: rapid guide to clinical interpretation of common mutations.
  Elmougy F et al. Journal of endocrinological investigation 2020 May
• Adverse Outcomes and Economic Burden of Congenital Adrenal Hyperplasia Late Diagnosis in the Newborn Screening Absence.
  Miranda Mirela Costa De et al. Journal of the Endocrine Society 2020 Feb 4(2) bvz013
• Clinical Impact and Cost Efficacy of Newborn Screening for Congenital Adrenal Hyperplasia.
  Fox Danya A et al. The Journal of pediatrics 2020 Feb
• Newborn Screening for Congenital Hypothyroidism, Congenital Adrenal Hyperplasia, and Glucose-6-Phosphate Dehydrogenase Deficiency for Improving Health Care in India.
  Verma Jyotsna et al. Journal of pediatric intensive care 2020 Mar 9(1) 40-44
• Newborn Screening and Diagnosis of Infants with Congenital Adrenal Hyperplasia.
  Vats Pallavi et al. Indian pediatrics 2020 Jan 57(1) 49-55
• Newborn Screening for Five Conditions in a Tertiary Care Government Hospital in Bengaluru, South India-Three Years Experience.
  Kommalur Anitha et al. Journal of tropical pediatrics 2019 Dec
• Molecular diagnostics of disorders of sexual development: an Indian survey and systems biology perspective.
  Nagaraja M R et al. Systems biology in reproductive medicine 2019 Apr 65(2) 105-120
• Issues with the Detection of Large Genomic Rearrangements in Molecular Diagnosis of 21-Hydroxylase Deficiency.
  Concolino Paola et al. Molecular diagnosis & therapy 2019 Jul
• Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
  David Jan et al. Central European journal of public health 2019 Jun 27(2) 153-159

More