S8 12th International Conference on Preimplantation Genetic Diagnosis

shown in randomized controlled trials to improve pregnancyrates.This talk will focus on the most current and up to date datafrom randomized controlled trials undertaken around the world.These trials include biopsy at the polar body, cleavage stage andblastocyst stages of embryo development. The patient groupsstudied include young, good prognosis patients, older patientsof advanced maternal age, patients with recurrent pregnancyloss and patients with recurrent implantation failure.

Advanced Topics in Clinical PGD

I20 Safety of PGD: Comparative prevalence of congenitalanomalies after PGD and ART

I. Liebaers, S. Desmyttere, M. Bonduelle. Center for MedicalGenetics, UZbrussel, Vrije Universiteit Brussel, Brussels,Belgium

Aim of the study: To evaluate health of children born after PGDat birth and thereafter. Questions asked: (1) Does ART (IVF/ICSI)cause harm to future children? (2) Does a one- or two-cellbiopsy of a cleavage stage embryo cause additional harm to thefuture children? (3) What is the risk for misdiagnosis? Answersto the questions: ART children, even singletons have an adverseperinatal outcome, compared to naturally conceived children;this is in part due to in- or subfertility of the parents and morein particular the mother but other factors related to the ARTprocedures seem to play a role. It is interesting to note thatthe adverse effects have decreased with time probably due tochanges in the procedures. The health of PGD children at birthis comparable to ICSI children, who seem to present less adverseeffects than IVF children. In our own study comparing 995 PGDchildren with 1507 ICSI children at birth, the major malformationrate, being respectively 2.3% and 2.7%, was not significantlydifferent. In the 10-year PGD consortium paper 2% of majormalformations are reported. No study has directly comparedthe malformation rate in PGD children with naturally conceivedchildren in a prospective way. After birth the follow-up dataon PGD children are limited. Our own data on 70 two-year-oldPGD children compared to ICSI children and naturally conceivedchildren are reassuring. Based on our own data and the PGDconsortium data, the number of misdiagnosis is decreasing.Conclusions: (1) The health of children born after PGD iscomparable to the health of children born after ICSI based ondata collected at birth and up to 2 years of age. (2) The risk formisdiagnosis is small to very small.Future: (1) Compare health of PGD children with naturallyconceived children; (2) long-term follow-up are needed.

Reference(s)Pinborg et al., 2012, HRU; Harper et al., 2012, HR; Goossens

et al., 2012, HR; Desmyttere et al., 2012, HR.

I21 Hemoglobinopathy prevention program in Turkey

D. Canatan. Antalya, Turkey

Thalassemia and abnormal hemoglobins are a serious healthproblem in Turkey. Very important steps toward preventingthalassemia have been taken in Turkey by the Ministryof Health (MOH), Turkish National Hemoglobinopathy Coun-cil (TNHC) and Thalassemia Federation of Turkey (TFT)since 2000. In 1993, a law was issued called “Fightagainst hereditary blood disease especially for thalassemiaand hemoglobinopathies”. The law commends to preventhemoglobinopathies and to treat all patients with hemoglobino-pathy and thalassemia. A pilot project was started and centerswere created in the MOH Hospitals in the southern provinces

of Turkey. In 2000, TNHC was installed to combine all centres,foundations, and associations into one organization controlledby the MOH. In 2001, the MOH and the TNHC made aninventory of all recorded patients with thalassemia and abnormalhemoglobins in Turkey, registering at least 4513 patients. In2002, writen regulations for the Fight Against Hereditary BloodDisease were published. MOH and TNHC selected 33 provincessituated in the Thrace, Marmara, Agean, Mediterranean andSouth Eastern regions with high birth prevalence of severehemoglobinopathies. In 2003, the hemoglobinopathy scientificcommittee was set up, a guidebook was published and anational Hemoglobinopaty Prevention Program (HPP) was startedin these high risk provinces. This program is running inthese provinces successfully. In 2005, TFT was establishedas a secular society organization instead of TNHC. In 2007,National Thalassemia Prevention Campaign (NTPC) was organizedfor public education by TFT. This campaign contributed veryimportant supportings to HPP in Turkey, because in total62,682 people such as health workers, students, teachers,demarchs, religion officers and many other people wereeducated for preventing thalassemia and hemoglobinopathies. In2009, National Thalassemia Education Seminars (NTES) for healthpersonels have been planned in 26 cities by MOH and TFT. In total3,600 health persons were educated on thalassemia preventionand therapy with NTES in 18 centers in 2009 and 2010.In conclusion, according to reports of MOH, 46 first levelhemoglobinopathy diagnosis centers, 5 second level diagnosisand therapy center and 5 third level prenatal diagnosis centerswere set up and licenced in 30 cities between 2003 and 2010.While premarital screening tests were 30% of all couples in2003, it increased continuously during 6 years and it reached87% in 2010. The number of newborns with thalassemias andhemoglobinopathies was 272 in 2002; it was decreased to25 in 2010.As conclusion, there has been a 90% reduction in new affectedbirths as the results of educational and prevention studies inTurkey. Now, there are about 5,500 patients with thalassemia andabnormal hemoglobins. All the patients are under the umbrella ofsocial security. Transfusion and chelation regimens are suppliedas free of charge.Keywords: Hemoglobinopathy prevention program, Turkey

I22 Progress in reduction of new cases of thalassemia as aresult of a community-based preventive program inIran

S. Zeinali. Department of Molecular Medicine, Department ofBiotechnology, Pasteur Institute of Iran and Kawsar HumanGenetics Research Center (KHGRC), Tehran, Islamic Republic ofIran

Thalassemia is the most prevalent genetic disorder worldwide.The disease has high socio-economic impact in the family andsociety.Iran is located in the thalassemia belt in the Middle East.Overall more than 5% of Iranians are carrier of beta-thalassemiaand higher percentages are carrier of alph-thal. Treatment forthalassemic patients has been free of charge for over 20 years.These charges and other burdens on the family and the countryforced the government to take proper actions in preventing birthof new affected children. In this regard, the government ratifiedcompulsory premarital screening for thalassemia carrier status.National Program for Prevention of Thalassemia was started in1997 by the Ministry of Health. From that date every couple whowants to get married have to go to a marriage certificate office.There they are first referred to one of designated Primary HealthCenter (PHC) in the vicinity. They are screened for thalassemiacarrier status. Carriers are counseled by genetic counselor at thePHC and also designated specialized hematologist. If they get