Effects of genetics, ethnicity, nutrition and analytical interference


On behalf of the Local Organising Committee and the ISNS Council it is my pleasure to welcome you to the 11th ISNS European Regional Meeting taking place this year in Bratislava, Slovakia, October 14-17, 2018.


Scientific and technological advancements are rapidly enabling neonatal screening for ever more congenital conditions to become available.  We very much look forward to hearing about some of these in this conference.  The potential to significantly expand the scope of  newborn screening  reminds us that it is also worthwhile taking a step back and reviewing experience acquired by earlier newborn screening programmes.  The keyword here is reliability.  Reliability applies to all aspects of the screening process  - analytical reliability (is our methodology in order?), clinical reliability (do we identify affected infants efficiently?), cost-effectiveness reliability (do we get value for money?) and more.


As the conference programme is gradually developed screening for new conditions will be highlighted with an important emphasis on reliability.


After the conference the Local Organising Committee hopes that you will be able to spend one or two more days in the beautiful city of Bratislava and/or in the countryside of Slovakia!


Maria Knapkova,

LOC chair

From the President of the International Society of Neonatal Screening (ISNS)

As President of the ISNS, it is my pleasure to send greetings and best wishes to the Organizing Committee for the 11 th ISNS European Regional Meeting to be held in Slovakia in the fall of 2018. The leadership of ISNS looks forward to working with the experts in Slovakia to ensure that this meeting will be of superior quality. This important meeting will bring together the experts in newborn screening from a wide area in Europe as well as expert and interested participants from an even broader area. Along with all aspects of newborn screening that will be presented, there will be an excellent opportunity to discuss the large differences that exist in the NBS panels among the European countries and the lack of coordination by the EU Commission in spite of their recommendations and calls to collaborate in the field of rare diseases. It was my pleasure to serve as an outside participant on the EU Commission’s group, and have an opportunity to discuss these important areas. I personally look forward to joining this meeting in 2018.


R. Rodney Howell, M. D.
October 2017

Meeting information


Radisson BLU Carlton Hotel Bratislava
Hviezdoslavovo námestie 3
811 02 Bratislava
Tel: +421 2 32661280




Located on the River Danube, Bratislava is easily accessible. It’s a great place to hang out. The city is safe, friendly, hassle-free and there is always something worth doing whether you’re here for an afternoon, a week or a year.


Bratislava has always been a flourishing and prosperous town, making the most of its position on the Danube and being at the intersections of important European trade routes. In the Mediaeval period and later in the 18th century, it was a significant economic centre and later, a cultural and political centre of Central Europe. In the 16th Century, due to its location, Bratislava not only became the capital and coronation town of the Hungarian Kingdom but also the place where its crown jewels were kept. It was remote from the invading Turks, yet close to imperial Vienna, from where the whole of the Austro-Hungarian Empire was governed for nearly 500 years.


Historically, Vienna and Bratislava were very closely connected economically, culturally and politically.


From Vienna Airport to Bratislava:

The airport Vienna-Schwechat is only 40 km West of Bratislava, it is one of the main gateway to Slovakia. Buses to Bratislava depart every 30 minutes or so from the Vienna airport.

For more information on Buses we invite you to look at the following bus company to view the schedule:

Ticket can be purchase in advance or directly in the bus, it will cost between 1 and 10 EUR per way.

The Bratislava bus stop is Bratislava Most SNP which is located only 5 minutes walking distance from the meeting venue.


For more information about the City of Bratislava please click here.


Restaurant suggestion around the venue:

The Radisson BLU Carlton Hotel Bratislava is centrally located and surrounded by many restaurants, please visit the website below for suggestions:


Provision of meals during the ISNS 2018 Symposium

Sunday 14 October


Canapes after opening addresses.  (Delegates to make own dinner arrangements if required)

Monday 15 October

12.15 - 13.30  Lunch provided

Delegates to make own dinner arrangements

Tuesday 16 October

12.15 - 13.30  Lunch provided

18.30  Museum visit then Gala buffet dinner (purchased separately)

Wednesday 17 October

No lunch provided after closure





Local Organizing Committee members:

  • Kate Hall, ISNS Council Member
  • Dr. Mária Knapková, Newborn Screening Centre of Slovakia - Head of the Laboratory
  • Prof. Viktor Kožich, Charles University-First Faculty of Medicine and General University Hospital in Prague, Department of Pediatrics and Adolescent Medicine
  • Dr. J. Gerard Loeber, ISNS - Office manager
  • Ing. Martina Machková, Newborn Screening Centre of Slovakia - Laboratory Diagnostics
  • Dr. Zuzana Mydlová, Newborn Screening Centre of Slovakia - Deputy Chief Laboratory Officer
  • Jana Petríková, Banská Bystrica Children´s University Hospital - Marketing and PR assistant
  • Dr. Róbert Petrovič, University of Medicine, Institute of Medical Biology, Genetics and Clinical Genetics – Special assistant
  • Dr. Peter Schielen, Centre for Health Protection – Head reference laboratory neonatal screening
  • Doc. Félix Votava, University Hospital Královské Vinohrady - Head of the Paediatric Clinic

Honorary Members:

  • Prof. Svetozár Dluholucký, Newborn Screening Centre of Slovakia - Medical guarantor
  • Dr. Miloslav Hanula, Banská Bystrica Children´s University Hospital - Medical Director
  • Ing. Marianna Hoghová, Banská Bystrica Children´s University Hospital - General Director

Scientific committee:

  • Rodney Howell (USA)
  • Veronica Wiley (Australia)
  • Jim Bonham (UK)
  • Joanne Mei (USA)
  • Tania de Carvalho (Brazil)
  • Kate Hall (UK)
  • Issam Khneisser (Lebanon)
  • David Millington (USA)
  • Enzo Ranieri (Australia)
  • Victor Skrinska (Qatar)
  • Marcela Vela Amieva (Mexico)
  • Seiji Yamaguchi (Japan)

ISNS 2018 programme

Please click HERE to view the programme


ISNS 2018 Gala Dinner

Our exclusive Gala Dinner will take place at the Slovak National Gallery on the Tuesday 16 October 2018 from 18:30. A visit of the Museum will be organised, then buffet dinner will be served.

In order to have more information regarding the venue please click here.

The Gallery is located only at 3 minutes walking distance from the meeting venue.

Tickets can be purchase through the online registration system at the price of 65 EUR.

For question please contact us at the following e-mail address:


The International Journal of Neonatal Screening (IJNS)

The International Journal of Neonatal Screening (IJNS) is the official journal of the International Society for Neonatal Screening (ISNS).

IJNS is also the official journal of the German Society for Neonatal Screening (DGNS). The journal is a publishing platform for all topics concerning newborn screening (NBS) and covers clinical presentations, metabolite pattern detection, technical aspects, and "tips and tricks".

"Tips and tricks" will appear in the form of "Technical Notes" on the journal website, thus making IJNS the platform for NBS laboratories to share their valuable information as to how they have improved assays, workflow, and performance. Such improved assays, workflow, and performance. Such improvements are sometimes achieved through tiny adaptions of existing methods, which normally remain inlab journals, but which might help improve the performance of NBS laboratories around the world


Abstract have been published in the International Journal of Neonatal Screening (IJNS) and can be view by usingthe link below:

Please click on Full text or PDF to access the abstract book

Abstract submission is now closed

Poster guidelines:

Please click here to read the poster submission guidelines


Abstract information

Abstracts on all conference topics listed and any breaking news are invited.  Where possible presentations will emphasize the reliability of newborn screening processes. Reliability may relate to analytical accuracy, clinical experience or the robustness and cost effectiveness of treatment in eliminating or significantly reducing morbidity.  The local organising committee asks all presenters, whether via oral communications or posters, to consider including a statement on or an evaluation of the reliability of their screening systems.  Contributions evidencing reliability problems experienced and suitable/practical solutions will be especially welcomed.


Submission deadline

Please submit your abstract before the 3rd April 2018


Poster prize

A prize will be awarded to the poster judged to be the best in terms of quality of content and visual presentation.  Where two posters are considered to be of equal standing then the one more closely following the conference theme will be chosen. The poster prize consists of a travel grant to a future neonatal screening meeting with a value of EUR 250



Neonatal screening, analytical reliability, clinical reliability, cost-effectiveness, annual evaluation protocols


Abstract topic list

Conditions (to be ) screened for biochemically


Organic acidurias

Fatty Acid Oxidation disorders

Endocrine disorders (CH, CAH)

Cystic Fibrosis




Fragile X

SMA (Spinal Muscular Atrophy)

Bedside testing:



New technologies in screening:

Whole Genome Sequencing/Rapid genetic analysis



Policy making and implementation:

FELSI aspects

giving information to public

giving information to professionals

process of implementation in practice

country progress reports

Process evaluation and improvement

timeliness (sampling, sending, reporting)

short term follow up

long term follow up

annual process evaluation protocols

annual effect evaluation protocols


filter paper technology and other microsampling techniques

low-tech methodology in general


Registrations & accommodation

Online registrations are now closed. We have reached the maximum number of seats available in the session room.

For any query or to be put on the waiting list, please contact our registration team at the following e-mail address:

 We thank you very much for your understanding and hope to see you at the next ISNS meeting in 2019.


Registration fees


LMIC list:

ONLINE REGISTRATION NOW OPEN. Please click HERE to register.

Registration includes

Access to the sessions

Access to posters

Congress documents

Access to the exhibition area

Coffee breaks


Accommodation is not included in the registration fees. However, the organisers have pre-booked some rooms in the official hotel so that rooms can be booked during the registration process at special rates and conditions.

Terms and conditions

For individual terms and condition please click here

For groups terms and condition please click here



Why partner the 11th ISNS European Regional Meeting in Bratislava?

Our exhibition and sponsorship brochure can be downloaded by clicking here



Reliability of newborn screening results

Status of NBS in European countries

Factors involving the classification of NBS results

Communication with parents/professionals and public

Old conditions revisited

New conditions (SCID, DMD, LSDs)

Molecular technology in NBS

Health Information Technology



ISNS meetings are attended by a variety of experts in the field of neonatal screening. These comprise laboratory directors, programme managers, clinical specialists involved in treatment and follow up, nurses, midwives and laboratory scientists.

Typical numbers are 200-300 delegates from around 50 countries.



This ISNS European Symposium is an ideal occasion for companies to showcase their products to a broad audience of potential customers. Companies will have a focus on laboratory equipment, reagents, test-kits, software, drugs, food supplements, dietary products and other materials related to newborn screening, its follow-up and treatment.

Our exhibition and sponsorship brochure can be downloaded by clicking here.  To suit your requirements and budget the brochure features a range of opportunities to raise the profile of your company, products and services to a professional audience in the neonatal screening sector.

Note: The exhibition floor plan will be made available once the majority of the expected sponsors have confirmed their arrangements.

Confirmed sponsors will be contacted in the order of receipt of their booking forms.


Reservations will be handled on a first come first served basis.

We look forward to your participation.

Do not hesitate to contact us for any additional information you may


Confirmed sponsors

The congress would like to thank the following partners:












We look forward to welcoming you to Slovakia and hope you will enjoy the ISNS 2018 symposium in Bratislava. There will be shared experiences, traditional food and wine to taste and the history and magnificence of Slovakia to discover. With a love of our heritage and appreciation of newborn screening we have designed some beautiful and good quality conference T-shirts to remember all these moments.



There is no limit to the number of T-shirts which can be ordered.  Do feel free to order as many as you wish!

Please order via e-mail: stating

  1. your name and surname
  2. address
  3. style number(s)
  4. size(s)
  5. number of each piece

For size specification see our size-charts below.  To be able to choose the size for the best fit please pay special attention to your body measurements. Changes in your order are not possible after the deadline. Orders are non-refundable as the T-shirt will be made just for you. Thank you for your understanding.

Deadline for orders: September 15, 2018

Your T-shirt order will await you at the registration desk in Radisson Blu Carlton Hotel Bratislava. Payment will be taken at the registration desk in cash only.



STYLE No: 152W

white with 5-colour print on chest & top back
15.50 EUR


STYLE No: 152B

black with silver print on chest & top back
15.50 EUR

  • Single Jersey
  • 95% cotton, 5% spandex
  • premium quality, 180g/m2
  • perfectly fit T-shirt with spandex and fine details
  • excellent sewing and quality materials
  • deeper round neckline
  • fixing shoulder seams
  • narrow rib knit collar with 5% spandex
  • short close-fitting sleeves
  • decorative stitching
  • wash at 30℃
  • available sizes XS - 2XL

Click here to see the size chart


STYLE No: 162W

white with 5-colour print on chest & top back
10.00 EUR

STYLE No: 162B

black with silver print on chest & top back
10.00 EUR

  • Single Jersey
  • 100% cotton
  • silicone finish
  • heavier weight T-shirt (180g/m2)
  • shorter sleeves
  • close fit cut with side seams
  • deeper V-neckline
  • neckline hem of shell fabric with 5% spandex
  • inner back neckline with a tape
  • fixing shoulder seams
  • wash at 40℃
  • available sizes XS - 2XL

Click here to see the size chart


STYLE No: 137W

white with 5-colour print on chest
10.00 EUR

STYLE No: 137B

black with silver print on chest
10.00 EUR

  • Single Jersey
  • 100% cotton
  • unisex heavy weight T-shirt 200g/m2
  • narrow round neck with 5% spandex
  • fixing shoulder band
  • exclusive look for its final silicone finish
  • seamless body
  • wash at 40℃
  • available sizes XS - 4XL

Click here to see the size chart


STYLE No: 146W

white with 5-colour print on chest
10.00 EUR

STYLE No: 146B

black with silver print on chest
10.00 EUR

  • Single Jersey
  • 100% cotton
  • silicone finish
  • slim fit V-neck T-shirt
  • heavy weight 180g/m2
  • trendy 1:1 rib knit narrow collar with 5% spandex
  • modern slim fit with side seams
  • neck tape
  • shoulder-to-shoulder tape
  • wash at 40℃
  • available sizes S - 3XL

Click here to see the size chart


ISNS 2018 General information:

Tel: +41 22 33 99 723

Registration and Accommodation bureau:
Tel: +41 22 33 99 723

ISNS 2018 Secretariat:


MCI Suisse SA
9, Rue du Pré-Bouvier
1242 Satigny, Geneva

ISNS Office:


Burgemeester Fabiuspark 55
The Netherlands
Tel: +31 6 4616 3922

Newborn Screening Centre of Slovakia:


Skríningové centrum novorodencov SR
Detská fakultná nemocnica s poliklinikou Banská Bystrica
Námestie Ludvika Svobodu 4
974 09 Banská Bystrica
Tel: +421 48 472 65 47

Banská Bystrica Children´s University Hospital:


Detská fakultná nemocnica s poliklinikou Banská Bystrica
Námestie Ludvika Svobodu 4
974 09 Banská Bystrica
Tel: +421 48 472 65 01

Useful links











Useful tips:

The BRATISLAVA AIRPORT (BTS) is just a 15 minutes drive from the City Center, visit the airport website:

VIENNA INTERNATIONAL AIRPORT is just 40 minutes drive to Bratislava or 60 minutes by bus,

BUDAPEST INTERNATIONAL AIRPORT is a 2.5 hour drive to Bratislava.