Scientific Programme

0830-11203 congresses jointly organized session 
0830-0900Opening
0900-0940Single Fetal Cell Testing for Noninvasive Prenatal Diagnosis: Revolutionizing prenatal testingA Beaudet
0940-1005Advances in in-utero fetal therapyTY Leung
1005-1030产前分子遗传学诊断的应用和进展YM Bian
1030-1055NIPT: Global Trend and DevelopmentTY Leung
1055-1120无创产前基因检测的临床实践：从NIPT, NIPT Plus到NIPT单基因病FL Yu
0830-1050Session 1 – Undiagnosed diseasesFL Yu
I Lo
0830-0910Multi-omic Approach to Undiagnosed DiseasesB Lee
0910-0950Genomic approaches to the undiagnosed patientC Eng
0950-1030Biallelic Variants in TONSL and Bone DysplasiasC Bacino
1030-1050Tea break
1050-1240Session 2 – Prenatal Genetics and NIPTWC Leung
S Shaw
1050-1120Genome-wide sequencing for prenatal diagnosisI Van Den Veyver
1120-1145Prenatal diagnosis by low-pass whole genome sequencingR Choy
1145-1215Non-invasive prenatal screening for a panel of Mendelian monogenic disordersC Eng
1215-1235Abstract presentation
1. High false-positive non-invasive prenatal screening results for sex chromosome abnormalities: Are maternal factors the culprit?
2. Value of Noninvasive Cell-free Fetal DNA Testing: A Multicenter Follow-up Study of 32267 Pregnancies in Southeastern China
1. B Zhang

2. P Liang
1240-1400Lunch with symposium
1400-1600Session 3 – Inborn Error Metabolism (IEM)M Choolani
C Bacino
1400-1430Utility of untargeted metabolomic analysis in the evaluation and management of neurometabolic and mitochondrial disordersF Scaglia
1430-1500Maternal Factor to the Offspring Harboring Different Heteroplasmy of MtDNA 3243A>G MutationCS Liu
1500-1530Genetics basis of paediatrics epilepsyJ Chong
1530-1550In utero therapy for open Spina BifidaS Shaw
1550-1610Tea break
1610-1745Session 4 – Bone / Skeletal GeneticsJ Chong
F Zhang
1610-1635Brittle Bone Diseases Diagnosis and TreatmentB Lee
1635-1700Therapeutic Advances in AchondroplasiaC Bacino
1700-1725TBX6-assocaied congenital scoliosis (TACs) as a clinically distinguishable subtype of congenital scoliosisN Wu
1725-1745Diagnosed or undiagnosed? From the clinical practice of WES! YL Yang
0900-1100Session 5 – Cardiac GeneticsB Lee
R Wang
0900-0925Of mice and men: genetic architecture of congenital heart diseaseC Lo
0925-0950Genetics of Aortic Diseases.Z Zhou
0950-1015Familial atrial septal defect: identification of a novel TPM1 mutationP Teekakirikul
1015-1025Abstract presentation Molecular diagnosis of hepatic glycogen storage disease by gene panel-based next-generation sequencing: Results in 108 casesMS Ma
1025-1030Q&A
1030-1100Tea break
1100-1230Session 6 – Reproductive GeneticsX Zhang
I Van Den Veyver
1100-1125Genetic analysis in sperm tail malformationF Zhang
1125-1150Characterizing the role of maternal effect genes in human reproductive outcomes. I Van Den Veyver
1150-1215Genome Sequencing defines the genetic etiology of recurrent miscarriage couplesE Dong
1225-1230Q&A
1230-1400Lunch with symposium
1400-1600Session 7 – NeurogeneticsA Beaudet
KY Leung
1400-1425Everything genetic about autismA Beaudet
1400-1450aCGH findings-five years’ experience in a clinical genetics centreI Lo
1450-1515Genomic disorder-15 yearsS Cheung
1515-1540Fetal Cortical Maldevelopment and GeneticsR Pooh
1540-1600Tea break
1600-1730Session 8 – Clinical TrialN Wu
F Scaglia
1600-1625Phase 1 clinical trial with L-citrulline to treat nitric oxide deficiency in MELAS syndromeF Scaglia
1625-1650Overview of diagnosis of MPS patients in PUMCHZQ Qiu
1650-1710Intrauterine Stem Cell Therapy for Osteogenesis ImperfectaM Choolani
1710-1730Abstract presentation
1. Analysis of fragment size distribution of cell-free DNA: a potential noninvasive marker to monitor graft damage in liver transplantation for inborn errors of metabolism
2. Diagnostic yield and clinical impact of exome sequencing analysis in patients with early-onset scoliosis (EOS)
1. HL Ng


2. S Zhao