ISNS International Society For Neonatal Screening




Our vision: ISNS is recognized worldwide for its contributions to the detection of neonatal conditions and the prevention of their adverse outcomes through excellence in neonatal screening.

Our mission:  To enhance the quality of testing and medical services through dissemination of information, guidelines and best practices that benefit all family members and their babies by helping to ensure protection of babies from life-quality threatening conditions.


Welcome !

Welcome to the website of the International Society for Neonatal Screening (ISNS).
This society is aiming to advance screening for neonatal and infant sicknesses and disorders, worldwide.
ISNS has around 350 members in more than 70 different countries. Most members have a professional (para)medical background but a few are involved in parents' or patients' organisations.

For more information about ISNS visit the ISNS-Info section (see above).

ISNS welcomes new members who have demonstrated an active interest in neonatal screening.

Why should I join as a member?

As a member you are entitled to see the privileged pages containing specific news items, a monthly neonatal screening literature service and a discount to ISNS-related conferences. Under certain conditions you may apply for travel grants to such conferences. Having access to the on line membership directory you have easier access to other members sharing specific interests.

How do I become a member?

Please read the Membership-info section (see above) and subsequently click on the button "Member subscribe"


Worldwide members per May 1, 2014

350 members in 68 countries.
Countries with at least one member are shown in blue-grey, others in green.

  • News
  • Events

The European commission has also released a fact sheet of EU action on rare diseases on the event of rare disease day. In recognition of the significant impact of such diseases on sufferers, their families and carers, the European Commission describe the integrated approach taken to improve access and equity towards prevention, diagnosis and treatment of these patients throughout the European Union. The factsheet illustrate EC actions in several areas important to rare disease patients such as:
• Supporting actions for an early diagnosis
• Supporting European research for better understanding and treatment of rare diseases
• Incentivising pharmaceutical companies
• Establishing a European platform on rare diseases registration
• Helping the organisations that support patients
• Assistance and support for member states’ efforts
• Gathering the best expert advice
• Supporting projects

Read EC fact sheet

(source: OrphaNews 170315)

An article published in Genetics in Medicine show that the Cystic Fibrosis (CF)- newborn screening (NBS) procedure implemented in France is an effective strategy for that could be easily applied in other countries. NBS for CF was implemented throughout France in 2002 which involved a four-tiered procedure: immunoreactive trypsin (IRT)/DNA/IRT/sweat. This study assessed the performance of molecular cystic fibrosis transmembrane conductance regulator (CFTR) gene analysis from the French NBS cohort, to evaluate CF incidence, mutation detection rate, and allelic heterogeneity. The authors utilised the newborn screening data collected by the Association Francaise pour le Depistageet la Prevention des Handicaps de l’Enfant and classified the identified mutations based on their potential for causing disease, to propose a diagnostic algorithm. The authors reported that the screening test along with a comprehensive CFTR gene analysis, provides an excellent detection rate of "99.77% for the mutated alleles, enabling the identification of a complete genotype in 99.55% of affected neonates". The authors believe that the "sensitivity, specificity, and positive predictive value obtained suggest that the four-tiered IRT/DNA/IRT/sweat test procedure may provide an effective strategy for newborn screening for cystic fibrosis".

See full article

(source: OrphaNews March 1, 2015)

Dr Giancarlo la Marca, Florence, Italy is the recipient of the 2014 ISNS/Bio-Rad Dussault Medal for young investigators.

Dr. la Marca has received a doctorate degree in Pharmaceutical Chemistry and Technology from the University of Florence, Italy followed by a specialization in Pharmacy at the same university. He has a very active and successful research activity as demonstrated by the numerous grants and peer reviewed papers..

Dr. la Marca main research interest is in improving newborn screening by developing new strategies to identify novel conditions and to decrease false positive results.  His program is responsible for the screening of all newborns in several regions of Italy. He has also been very active in training and helping other regions to implement tandem mass spectrometry in their newborn screening laboratories.

Dr. la Marca is a true innovator in his field, his work has been published in prestigious journals, has been cited, and is followed by investigators throughout the world.