scholarly journals Evaluation of a Two-Tier Screening Pathway for Congenital Adrenal Hyperplasia in the New South Wales Newborn Screening Programme

2020 ◽  
Vol 6 (3) ◽  
pp. 63
Author(s):  
Fei Lai ◽  
Shubha Srinivasan ◽  
Veronica Wiley
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Newborn Screening ◽  
Screening Programme ◽  
New South ◽  
New South Wales ◽  
Policy Framework ◽  
Adrenal Crisis ◽  
Adrenal Hyperplasia ◽  
Newborn Screening Programme ◽  
South Wales

In Australia, all newborns born in New South Wales (NSW) and the Australia Capital Territory (ACT) have been offered screening for rare congenital conditions through the NSW Newborn Screening Programme since 1964. Following the development of the Australian Newborn Bloodspot Screening National Policy Framework, screening for congenital adrenal hyperplasia (CAH) was included in May 2018. As part of the assessment for addition of CAH, the national working group recommended a two-tier screening protocol determining 17α-hydroxyprogesterone (17OHP) concentration by immunoassay followed by steroid profile. A total of 202,960 newborns were screened from the 1 May 2018 to the 30 April 2020. A threshold level of 17OHP from first tier immunoassay over 22 nmol/L and/or top 2% of the daily assay was further tested using liquid chromatography tandem mass spectrometry (LC-MS/MS) steroid profiling for 17OHP (MS17OHP), androstenedione (A4) and cortisol. Samples with a ratio of (MS17OHP + A4)/cortisol > 2 and MS17OHP > 200 nmol/L were considered as presumptive positive. These newborns were referred for clinical review with a request for diagnostic testing and a confirmatory repeat dried blood spot (DBS). There were 10 newborns diagnosed with CAH, (9 newborns with salt wasting CAH). So far, no known false negatives have been notified, and the protocol has a sensitivity of 100%, specificity of 99.9% and a positive predictive value of 71.4%. All confirmed cases commenced treatment by day 11, with none reported as having an adrenal crisis by the start of treatment.

Incident of Salt-Losing Congenital Adrenal Hyperplasia

PEDIATRICS ◽  
1970 ◽  
Vol 45 (3) ◽  
pp. 511-512
Author(s):  
Robert Vines
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
New South ◽  
New South Wales ◽  
Adrenal Hyperplasia ◽  
South Wales ◽  
Adrenocortical Hyperplasia ◽  
Similar Incidence

In New South Wales we have long been aware that, in our community, the incidence of the salt-losing variant of congenital adrenocortical hyperplasia differs from that reported in the literature. It was of interest then to read of the similar incidence found by Drs. Marks and Fink1 and the even higher incidence reported by Dr. Cohen.2 At the Royal Alexandra Hospital for Children, over the last 17 years 78 children have been seen suffering from congenital adrenocortical hyperplasia.

ADOPTing a new method of partner management for genital chlamydia in New South Wales: findings from a pilot implementation program of patient-delivered partner therapy

Sexual Health ◽  
2019 ◽  
Vol 16 (4) ◽  
pp. 332 ◽  
Author(s):  
Rebecca Lorch ◽  
Christopher Bourne ◽  
Leanne Burton ◽  
Larissa Lewis ◽  
Katherine Brown ◽  
...  
Keyword(s):  
General Practice ◽  
New South ◽  
New South Wales ◽  
Standard Of Care ◽  
Policy Framework ◽  
Successful Implementation ◽  
Regulatory Changes ◽  
South Wales ◽  
Implementation Program ◽  
Pilot Implementation

Background Patient-delivered partner therapy (PDPT) for chlamydia is an effective and safe additional partner management strategy. Some Australian regulatory changes have been made to support PDPT, but implementation guidance is lacking. This paper describes a pilot implementation program of PDPT in New South Wales (NSW), the Australian Development and Operationalisation of Partner Therapy (ADOPT). Methods: ADOPT involved: (1) clarification of the NSW PDPT legal and policy framework; (2) development and implementation of PDPT service models, resources and data collection tools for select publicly funded sexual health services (PFSHS) and Family Planning (FP) NSW clinics; and (3) evaluation of PDPT uptake. Results: PDPT can be undertaken in NSW if accompanied by adequate provider, patient and partner information. Regulatory amendments enabled medication prescribing. The pilot implementation took place in four PFSHS and five FPNSW clinics from January to December 2016. In PFSHS, 30% of eligible patients were offered PDPT and 89% accepted the offer. In FPNSW clinics, 42% of eligible patients were offered PDPT and 63% accepted the offer. Most partners for whom PDPT was accepted were regular partners. Conclusions: A close collaboration of researchers, policy makers and clinicians allowed successful implementation of a PDPT model for chlamydia in heterosexual patients at select PFSHS and FPNSW clinics, providing guidance on its use as standard of care. However, for the full public health benefits of PDPT to be realised, it must be implemented in general practice, where most chlamydia is diagnosed. Further work is recommended to explore feasibility, develop guidelines and promote the integration of PDPT into general practice.

Presenting status of children with classical congenital adrenal hyperplasia over two decades (1999–2018) in the absence of newborn screening in Sri Lanka

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Sumudu N. Seneviratne ◽  
Udara Sandakelum ◽  
Chaminda H. Jayawardena ◽  
Ashangi M. Weerasinghe ◽  
Piyumi S. Wickramarachchi ◽  
...  
Keyword(s):  
Sri Lanka ◽  
Congenital Adrenal Hyperplasia ◽  
Newborn Screening ◽  
Initial Presentation ◽  
Adrenal Crisis ◽  
Adrenal Hyperplasia ◽  
Severe Hyponatremia ◽  
The Past ◽  
Childhood Morbidity ◽  
Gender Based

Abstract Objectives Although new-born screening (NBS) for classical congenital adrenal hyperplasia (C-CAH) has been available for decades, it is not widely implemented. We assessed the usefulness of introducing NBS for C-CAH, by analyzing presenting status of infants with C-CAH, over the past two decades, in Sri Lanka. Methods This retrospective clinic-based study, from the largest tertiary children’s hospital in Sri Lanka, analyzed initial presenting features of children with C-CAH from 1999 to 2018, in the absence of NBS for CAH, and included gender-based comparisons. Results Features suggestive of impending adrenal-crisis were seen at initial presentation in >80 % (dehydration 70%, hyponatremia 65%, hyperkalemia 47%, vomiting 45%, hypoglycemia 22%, collapse 20%). Hyperpigmentation was seen in 78%, and consanguinity in 27%. There were fewer affected males (n = 12) compared to females (n = 28). Most girls (96%) had virilized genitalia, and 16 faced uncertainty about gender at birth. Median age at diagnosis was 20 days. More than 70% of children had SW-CAH (males = 9 and females = 20). There were fewer males with SW-CAH, and all had features of impending adrenal crisis, including severe hyponatremia in 50%, while 62% of girls also developed hyponatremia and 33% had hyperkalemia, prior to treatment. Treatment of SW-CAH was initiated at a median age of 30 days in boys, and 10 days of age in girls. Conclusion Many boys and girls with C-CAH from Sri Lanka presented late with impending adrenal crisis. Males were diagnosed later, and some possibly succumbed to C-CAH undiagnosed. These findings support including CAH in NBS programs to avert preventable childhood morbidity and mortality.

Expanded newborn screening in New South Wales: missed cases

2014 ◽  
Vol 37 (6) ◽  
pp. 881-887 ◽  
Author(s):  
Jane Estrella ◽  
Bridget Wilcken ◽  
Kevin Carpenter ◽  
Kaustuv Bhattacharya ◽  
Michel Tchan ◽  
...  
Keyword(s):  
Newborn Screening ◽  
New South ◽  
New South Wales ◽  
South Wales ◽  
Expanded Newborn Screening

Two-year pilot study of newborn screening for congenital adrenal hyperlasia in New South Wales compared with nationwide case surveillance in Australia

2008 ◽  
Vol 44 (10) ◽  
pp. 554-559 ◽  
Author(s):  
Helena K Gleeson ◽  
Veronica Wiley ◽  
Bridget Wilcken ◽  
Elizabeth Elliott ◽  
Christopher Cowell ◽  
...  
Keyword(s):  
Pilot Study ◽  
Newborn Screening ◽  
New South ◽  
New South Wales ◽  
South Wales

The Influence of Newborn Screening for Cystic Fibrosis on Pulmonary Outcomes in New South Wales

2005 ◽  
Vol 147 (3) ◽  
pp. S47-S50 ◽  
Author(s):  
Karen O. McKay ◽  
Donna L. Waters ◽  
Kevin J. Gaskin
Keyword(s):  
Cystic Fibrosis ◽  
Newborn Screening ◽  
New South ◽  
New South Wales ◽  
South Wales

scholarly journals Thirty-Year Lessons from the Newborn Screening for Congenital Adrenal Hyperplasia (CAH) in Japan

2021 ◽  
Vol 7 (3) ◽  
pp. 36
Author(s):  
Atsumi Tsuji-Hosokawa ◽  
Kenichi Kashimada
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Newborn Screening ◽  
Screening Program ◽  
Adrenal Crisis ◽  
Screening System ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
The Past ◽  
Life Threatening ◽  
21 Hydroxylase Deficiency

Congenital adrenal hyperplasia (CAH) is an inherited disorder caused by the absence or severely impaired activity of steroidogenic enzymes involved in cortisol biosynthesis. More than 90% of cases result from 21-hydroxylase deficiency (21OHD). To prevent life-threatening adrenal crisis and to help perform appropriate sex assignments for affected female patients, newborn screening (NBS) programs for the classical form of CAH have been introduced in numerous countries. In Japan, the NBS for CAH was introduced in 1989, following the screenings for phenylketonuria and congenital hypothyroidism. In this review, we aim to summarize the experience of the past 30 years of the NBS for CAH in Japan, composed of four parts, 1: screening system in Japan, 2: the clinical outcomes for the patients with CAH, 3: various factors that would impact the NBS system, including timeline, false positive, and LC-MS/MS, 4: Database composition and improvement of the screening program.

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