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Abstracts from the 51St European Society of Human Genetics Conference: Electronic Posters European Journal of Human Genetics (2019) 27:870–1041 https://doi.org/10.1038/s41431-019-0408-3 MEETING ABSTRACTS Abstracts from the 51st European Society of Human Genetics Conference: Electronic Posters © European Society of Human Genetics 2019 June 16–19, 2018, Fiera Milano Congressi, Milan Italy 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 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". 1234567890();,: 1234567890();,: E-P01 Reproductive Genetics/Prenatal Genetics then compared this data to de novo cases where research based PO studies were completed (N=57) in NY. E-P01.01 Results: MFSIQ (66.4) for familial deletions was Parent of origin in familial 22q11.2 deletions impacts full statistically lower (p = .01) than for de novo deletions scale intelligence quotient scores (N=399, MFSIQ=76.2). MFSIQ for children with mater- nally inherited deletions (63.7) was statistically lower D. E. McGinn1,2, M. Unolt3,4, T. B. Crowley1, B. S. Emanuel1,5, (p = .03) than for paternally inherited deletions (72.0). As E. H. Zackai1,5, E. Moss1, B. Morrow6, B. Nowakowska7,J. compared with the NY cohort where the MFSIQ for Vermeesch8, A. Swillen8, D. M. McDonald-McGinn1,5 maternal deletions (N=37, MFSIQ=73.41) was no different (p = 0.67) than paternal deletions (N=20, MFSIQ=75.2). 1The Children's Hospital of Philadelphia, Philadelphia, PA, Conclusions: Our findings confirm the association of United States, 2Davidson College, Davidson, NC, United lower FSIQ scores in familial versus de novo 22q11.2 States, 3La Sapienza, Rome, Italy, 4Ospedale Bambino Gesu, deletions. We also observed the novel association of lower Rome, Italy, 5Perelman School of Medicine at the University of MFSIQ scores in maternally v. paternally inherited familial Pennsylvania, Philadelphia, PA, United States, 6Albert deletions in contrast to de novo deletions where no Einstein College of Medicine, New York, NY, United States, difference was observed based on PO. Thus, a maternally 7Institute of Mother and Child, Warsaw, Poland, 8KU Leuven, inherited familial deletion is a significant risk factor for Leuven, Belgium poorer cognitive outcome. Confounding factors could include maternal comorbidities, mitochondrial effects, Background: Familial 22q11.2 deletions are thought to epigenetics, assortative mating, socioeconomics, grand- have a negative impact on mean Full Scale IQ scores parental engagement, etc. to explain this finding. Regard- (MFSIQ) in affected offspring, however, parent of origin less, this data serves as an important adjunct to traditional (PO) effect has not been examined. genetic counseling for women with 22q11.2DS in the Methods: We compared MFSIQ on children of affected prenatal and preconception setting. parents from Philadelphia (N=26) and Leuven (N=26), D.E. McGinn: None. M. Unolt: None. T.B. Crowley: assessed using the age appropriate Wechsler Intelligence None. B.S. Emanuel: None. E.H. Zackai: None. E. Moss: Scale, in those with familial v. de novo deletions and None. B. Morrow: None. B. Nowakowska: None. J. maternally v. paternally inherited familial deletions. We Vermeesch: None. A. Swillen: None. D.M. McDonald- Abstracts from the 51st European Society of Human Genetics Conference:… 871 McGinn: D. Speakers Bureau/Honoraria (speakers bureau, psychiatric disorders related to TX, and fosters their early symposia, and expert witness); Modest; Natera. prevention and eventually also therapy. Support E-P01.02 00064203 and CZ.2.16/3.1.00/24022. Reevaluation of ADAM12 as efficient marker for X M. Macek sr.: None. D. Springer: None. H. Klučková: chromosome trisomy prenatal biochemical screening for None. R. Vlk: None. I. pálová: None. D. Chudoba: None. improving care of associated clinically important disorders D. Novotná: None. L. Dvořáková: None. M. Simandlová: of postnatal development None. M. Turnovec: None. H. Cuckle: None. M. Macek sr.1, D. Springer2, H. Klučková1, R. Vlk3, I. pálová1, E-P01.03 D. Chudoba1, D. Novotná1, L. Dvořáková1, M. Simandlová1,M. Cytogenetic abnormalities in amniocytes and fibroblasts of Turnovec1, H. Cuckle4 abortion material diagnosed in the Laboratory of Medical Genetics - Varna for a 10 year period 1Department of Biology and Medical Genetics, 2nd Medical Faculty of Charles University and University Hospital Motol, M. Tsvetkova1,2, M. Stoyanova1, M. Levkova1, T. Ruseva1,V. Prague, Czech Republic, 2Intitute of Medical Biochemistry and Miteva1, L. Angelova1 Laboratory Diagnostics of the General University Hospital and of the First Medical Faculty of Charles University, Prague, 1Medical University Varna, Varna, Bulgaria, 2University Czech Republic, 3Department of Obstetrics and Gyneacology, Hospital St. Marina, Varna, Bulgaria 2nd Medical Faculty of Charles University and University Hospital Motol, Prague, Czech Republic, 4Columbia Introduction: Amniocentesis is the most widely used University, New York, NY, United States method of prenatal cytogenetic diagnosis for its high sen- sitivity though the risk from the manipulation. Data show Introduction: ADAM12 assures bioavailibility of IGF-1/IGF- that 50% of all clinically recognized pregnancies are due to 2 for growth, differentiation and neurogenesis and is expressed aneuploidy and 5% - structural chromosomal in the trophoblast. Trisomy X (TX) is the most common abnormalities (SCA). chromosomal abnormality (est. 1:1000 females) with a variable Materials and Methods: Cytogenetic study was per- a phenotype, commonly associated with renal/urogenital formed in 721 samples of amniotic fluid and 19 from abnormalities, developmental delay, depression, autism, schi- fibroblasts. Karyotype was analyzed on GTG-banded zophrenia and cerebral cortex hypo-/hyperplasia. In this regard, metaphases on cultures of amniocytes and fibroblasts, we have retrospectively validated this biomarker in prenatal according to the standard protocol. aneuploidy screening in a representative Czech cohort. Results: Overall abnormality rate in amniocytes was Material and Methods: ADAM12-S serum levels were 4,32%, mainly with high maternal biochemical risk. These measured in 1534 frozen maternal sera by Delfia ADAM12 were trisomy 21 (2,2%), trisomy 18 (0,6%), -chromosome research kit (Perkin Elmer) using time-resolved fluoroim- numerical and SCA 3 (0,4%); 1 (0,14%) with unbalanced munoassay (within 9th-18th weeks of gestation) at karyotype; 1 (0,14%) - a carrier of two different transloca- percentile level distribution <5, 6-10, 11-25, 25-49, 50, tions. SCA were identified in 5 (0,7%) cases indicated for 51-75 and 76-100. We assessed screening efficacy of familial rearrangements: 2 balanced translocations, 2 autosomal (70) and heterochromosomal (30) aneuploidies. inversions and 1 derivative chromosome, due to three way Results and discussion: Levels of ADAM12 in all translocation in the father. Ultrasound data on aneuploidy percentile categories were increasing by 15 ng/ml/day enabled the detection of 1 fetus (0,14%) with combined (p<0.000001). Detection rates in category <25th percentile numerical and structural karyotype of paternal origin. for T21 was 46.67% (45 cases), for T18 57.14% (7), T13 The pathology In the fibroblasts was 36,8%: trisomy 18, 100% (7), triploidy 100% (10), TX 87% (8), monosomy X mosaic translocation 21, one trisomy 11, 13 and 16 and 12.5% (8) and monosomy X mosaic 16.66% (6). mosaic trisomy 2. Conclusions: Although ADAM12 does not satisfactorily Conclusion: Nowadays amniocentesis is still a feasible detect T21, it is sensitive for the detection of T13, triploidy and tool for detecting structural chromosomal aberrations in TX. Decreased ADAM12 levels could be due to defective X 1,4%, which NIPT would fail to diagnose. Analyzing the chromosome inactivation, as independently suggested by XIST results of amniocentesis helps us to determine prenatal overexpression associated with psychiatric disorders and TX. detection rate of chromosomal aberrations and proper Significantly decreased ADAM12 levels are associated with genetic counseling of pregnant women. The pathology placental dysfunction and impaired CNS differentiation. Only found in this study of fibroblasts confirms that most of the ADAM12 enables prenatal screening of developmental and early abortions are due to aneuploidy. 872 J. del Picchia M. Tsvetkova: None. M. Stoyanova: None. M. E-P01.06 Levkova: None. T. Ruseva: None. V. Miteva: None. L. Genetic variation in CHRNA7 and CHRFAM7A is Angelova: None. associated with nicotine dependence and response to varenicline treatment E-P01.04 Molecular dissection of fetal anomalies by using array C. Cameli1, M. Viggiano1, E. Bacchelli1, M. De Paola2,G. CGH analysis - the opportunities and challenges Giucastro3, M. M. Cainazzo2, L. A. Pini2, M. Zoli4, E. Maestrini1 I. Dimova1, V. Peicheva2, P. Chaveeva3, V. Stratieva3,M. 1Department of Pharmacy and Biotechnology, University of Yankova4, K. Kamenarova2, D. Markov5, A. Shterev3,V. Bologna, Bologna, Italy, 2Department of Internal Medicine, Djonov6, R. Kaneva2 AOU – Policlinico di Modena, Modena, Italy, 3ASL Parma -Dipartimento Salute Mentale/Dipendenze
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