European Journal of Human Genetics (2019) 27:1814–1920 https://doi.org/10.1038/s41431-019-0493-3 ABSTRACTS COLLECTION Abstracts from the 52nd European Society of Human Genetics (ESHG) Conference: Posters Published online: 10 October 2019 © European Society of Human Genetics 2019 Volume 27 | Supplement 2 The Swedish Exhibition & Congress Center, Gothenburg, Sweden June 15–18, 2019 Sponsorship: Publication of this supplement was sponsored by the European Society of Human Genetics. All content was reviewed and approved by the ESHG Scientific Programme Committee, which held full responsibility for the abstract selections. Disclosure Information: In order to help readers form their own judgments of potential bias in published abstracts, authors 1234567890();,: 1234567890();,: are asked to declare any competing financial interests. Contributions of up to EUR 10 000.- (Ten thousand Euros, or equivalent value in kind) per year per company are considered “Modest”. Contributions above EUR 10 000.- per year are considered “Significant”. Electronic Posters Introduction: Carbamoyl phosphate synthetase 1 (CPS1) is a liver-specific enzyme with the lowest enzymatic rate, E-P01 which determines the overall rate of the other reactions in Reproductive Genetics/Prenatal Genetics the pathway that converts ammonia to carbamoyl phosphate in the first step of the urea cycle. Carbamoyl-phosphate E-P01.01 synthetase 1 deficiency which usually presents as lethal A Novel Missense Mutation in the CPS1 Gene Causes hyperammonemia, is a rare autosomal recessive hereditary arbamoyl phosphate synthetase 1 deficiency identified disease. Here we report a case of a two-day-old female by next generation sequencing neonate with lethal hyperammonemia. The newborn infant presented with hyperammonemia. M. Vahidi Mehrjardi1, H. Hozhabri2, M. Dehghani1 Materials and Methods: We performed SNParray and after that we performed a WES based on NGS. Sanger 1Medical Genetics Research Center, Yazd, Iran, Islamic sequencing to confirm the mutation was in the patient. The Republic of, 2Department of Experimental Medicine, mutation was checked in her parent and other family Sapienza University, Rome, Italy, Rome, Italy members too. Results: we found a novel missense c. 2758G>C A Novel Missense Mutation in the CPS1 Gene Causes mutation in exon 23 of CPS1 at amino acid position 920 Carbamoyl phosphate synthetase 1 deficiency identified (p. Asp920His). We used the Sanger sequencing to confirm by next generation sequencing the mutation was in the patient. The mutation was checked in her parent and other family members too. MY. Vahidi Mehrjardi1, H. Hozhabri2, M Dehghani1 Conclusions: We applied WES successfully to diagnose the patient with CPS1D in a clinical setting. This result 1Medical genetics research center, Shahid Sadoughi supports the clinical applicability of WES for cost-effective University of Medical Sciences, Yazd, Iran, 2Department molecular diagnosis of UCDs in prenatal diagnosis to future of Experimental Medicine, Sapienza University, Rome, Italy procedures of disease-free embryo selection. Abstracts from the 52nd European Society of Human Genetics (ESHG). 1815 M. Vahidi Mehrjardi: None. H. Hozhabri: None. M. Y. Suwanlikit: None. B. Panthan: None. S. Klum- Dehghani: None. sathian: None. A. Charoenyingwattana: None. W. Chantratita: None. O. Trachoo: None. E-P01.05 Developing comprehensive preconception carrier E-P01.06 screening for 21-hydroxylase-deficient congenital adre- Expanded carrier screening in Belgium: intentions and nal hyperplasia in Thai population attitudes of potential users visiting their gynaecologist Y. Suwanlikit1, B. Panthan2, S. Klumsathian2,A. E. Van Steijvoort1, H. Peeters2, H. Vandecruys3,K. Charoenyingwattana2, W. Chantratita2, O. Trachoo3,2 Peeraer4, G. Matthijs2, D. Chokoshvili1, P. Borry1 1Cultivating Medical-Scientific Expertise for Medical Stu- 1Centre for Biomedical Ethics and Law, KU Leuven, dents Program, Faculty of Medicine Ramathibodi Hospital, Leuven, Belgium, 2Department of Human Genetics, KU Mahidol University, Bangkok, Thailand, 2Center for Leuven, Leuven, Belgium, 3Jessa Ziekenhuis, Hasselt, Medical Genomics, Faculty of Medicine Ramathibodi Belgium, 4Department of Development and Regeneration, Hospital, Mahidol University, Bangkok, Thailand, 3Depart- KU Leuven, Leuven, Belgium ment of Medicine, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand In Belgium, the Superior Health Council (SHC) recom- mended that expanded carrier screening (ECS) should be Introduction: 21-hydroxylase-deficient Congenital Adre- available to all couples considering a pregnancy. Little is nal Hyperplasia (21-OHD CAH) is an autosomal recessive known about the attitudes of potential users for such an disorder causing by mutations in CYP21A2. This condition offer within the Belgian population. The purpose of this has diverse severity, ranging from classical severe neonatal study is to assess attitudes and interest of potential users life-threatening to mild non-classical form. The most severe regarding preconceptional ECS and to explore determinants classical form can elicit salt-wasting crises in the newborn. related to the intention of accepting preconceptional ECS. Additionally, classical 21-OHD CAH is able to induce Women (aged 18–40 years) consulting their gynaecologist simple virilization resulting in ambiguous genitalia in will be invited to complete a self-administered question- females and precocious puberty in males. Identifying naire that was developed based on the Theory of Planned couple-at-risk at preconception stage will have a benefit Behavior and existing questionnaires previously used in on prenatal fetal monitoring and treatment. other studies assessing attitudes regarding ECS. Participants Materials and Methods: We developed a rapid mole- will be informed about their population risk of being a cular method to detect 9 common CYP21A2 mutations carrier couple, the risk of conceiving a child with a genetic which have been reported as common etiologies for both condition for carrier couples and reproductive options classical and non-classical forms using Amplification- available for carrier couples prior to filling in the Refractory Mutation System containing P30L, Int2G, questionnaire. Descriptive statistics will be used to describe G110del8nt, I172N, V281L, Q318X, R356W, P453S and characteristics of participants. Independent sample t-test exon 6 cluster variants (I236N, V237E and M239K). Null (continuous data) and Chi-Square test (categorical data) will variant or large gene deletion testing was performed by real- be used to compare participants with and without intention time PCR and Restriction Fragment Length Polymorphism. to have preconceptional ECS. Logistic regression analyses These screening tools were then tested in 50 enrolled will be performed to determine which independent variables subjects at preconception genetics clinic. have a significant predictive effect on the intention to have Results: The developed techniques revealed the consis- preconceptional ECS. The results of this study will tent results to standard methods and controls. Two of contribute to a better understanding of the attitudes of 50 subjects (1/25) were identified as 21-OHD CAH carrier. potential users and support the implementation of pre- Of them, one was interpreted as a carrier for large-scale conceptional ECS in the Belgian healthcare system. gene deletion, whereas another case carried 2 variants locate E. Van Steijvoort: None. H. Peeters: None. H. within the adjacent exons, Q318X and R356W which was Vandecruys: None. K. Peeraer: None. G. Matthijs: likely in cis. None. D. Chokoshvili: None. P. Borry: None. Conclusion: Carrier screening for 21-OHD CAH using mentioned techniques were reliable and rapid. The cost was E-P01.07 also competitive to be proposed as a national screening. Prenatal diagnosis of isolated Congenital Heart Defects: Grants: Faculty of Medicine Ramathibodi Hospital, results of a prospective study genome-wide high resolu- Mahidol University. tion array-CGH versus karyotyping and 22q11 FISH 1816 L. Pasquier1, F. Roblot1, E. Launay2, M. Fradin1,C. A. Baquero Vaquer, M. Oliver Domínguez, R. Tena Ros, Quélin1, F. Demurger1, P. Loget3, G. Le Bouar4,C. P. Ferrer Herrera, R. Montaner Calatrava, M. Collado Combescure5, A. Leborgne6, A. Basquin7, M. Belaud- Díaz Rotureau2, S. Odent1, E. Oger8, S. Jaillard2 Sistemas Genómicos, Paterna, Spain 1Service de Génétique Clinique, CLAD Ouest, RENNES, France, 2Univ Rennes, CHU Rennes, UMR_S 1085 Inserm, Introduction: In cases with a high-risk result of X IRSET, RENNES, France, 3Service d’anatomie et cytologie chromosome aneuploidy obtained by Non-Invasive Prenatal pathologiques, CHU, RENNES, France, 4Centre Pluridis- Testing, if the pregnant woman’s karyotype is unknown, is ciplinaire de Diagnostic Prénatal, CHU, RENNES, France, interesting to determine, in the maternal blood sample, if the 5Centre Pluridisciplinaire de Diagnostic Prénatal, CH, NIPT result is a consequence of an X-chromosome SAINT-BRIEUC, France, 6Clinique La Sagesse, RENNES, aneuploidy present in the pregnant woman. France, 7Service de Cardiologie, CHU, RENNES, France, Material and Methods: Fluorescent in situ hybridization 8Univ Rennes, EA 7449 REPERES Pharmacoepidemiology (FISH) technique was performed in the buffy coat, and Health Services Research, CHU, RENNES, France exclusively containing maternal platelets and leukocytes, of three pregnant women blood sample (Cell -Free DNA Objectives: We evaluate the relevance of