A5101829787- Prenatal Screening and Diagnostics
- Pregnancy and preeclampsia studies
- Genomic variations and chromosomal abnormalities
- Gestational Diabetes Research and Management
- Maternal and fetal healthcare
- Hemoglobinopathies and Related Disorders
- Chronic Disease Management Strategies
- Assisted Reproductive Technology and Twin Pregnancy
- MicroRNA in disease regulation
- Molecular Biology Techniques and Applications
- Cancer Genomics and Diagnostics
- RNA Research and Splicing
- Pregnancy-related medical research
- Genetic Syndromes and Imprinting
- Genetics and Neurodevelopmental Disorders
- Hyperglycemia and glycemic control in critically ill and hospitalized patients
- Autopsy Techniques and Outcomes
- Congenital Anomalies and Fetal Surgery
- Diabetes Management and Research
- Lysosomal Storage Disorders Research
- Congenital heart defects research
- Diabetes Treatment and Management
- Diabetes Management and Education
- Congenital Diaphragmatic Hernia Studies
- Blood groups and transfusion
Chinese University of Hong Kong
2012-2022
Prince of Wales Hospital
2012-2022
John Wiley & Sons (United Kingdom)
2019
Hudson Institute
2019
California Pacific Medical Center
2018
RELX Group (Netherlands)
2013
University of California, San Francisco
2011-2012
Health and Human Development (2HD) Research Network
2012
University of Chicago
2003
Significance We explored the limit of noninvasive prenatal testing by performing genome-wide sequencing maternal plasma DNA at 195× and 270× haploid genome coverages. Combined with use a series bioinformatics filters, fetal de novo mutations could be detected positive predictive value that was two orders magnitude higher than previously reported. A BRAF mutation noninvasively in case cardiofaciocutaneous syndrome. The inheritance fetus ascertained on level without haplotypes, hence greatly...
Researchers have developed approaches for the noninvasive prenatal testing of single gene diseases. One approach that allows assessment both maternally and paternally inherited mutations involves analysis nucleotide polymorphisms (SNPs) in maternal plasma DNA with reference to parental haplotype information. In past, haplotypes were resolved by complex experimental methods or inferential approaches, such as through from other affected family members. Recently, microfluidics-based linked-read...
The current methods for distinguishing the zygosities of twins include ultrasound scanning, which is nondefinitive, and amniocentesis, invasive. We explored use massively parallel sequencing maternal plasma DNA noninvasive prenatal assessment twin pregnancies.Plasma was extracted from blood collected 8 women pregnant with twins. Target enrichment were performed each library. Apparent fractional fetal concentrations calculated multiple genomic regions by determining ratio minor to major...
ABSTRACT Objective The objective of the study was to evaluate ability a new prenatal diagnostic platform – BACs‐on‐Beads™ (BoBs™) in detecting mosaicism by comparison quantitative fluorescence‐polymerase chain reaction (QF‐PCR). Methods A validation BoBs™ firstly performed using 18 artificially constructing mosaic samples involving various aneuploidies and microdeletion conditions. Additionally, we compared accuracy between QF‐PCR for archived clinical cases nine chromosomally abnormal cell...
RNA transcripts circulating in peripheral blood represent an important source of non-invasive biomarkers. To accurately quantify the levels transcripts, one needs to normalize data with internal control reference genes, which are detected at relatively constant across samples. A few gene candidates have be selected from transcriptome before validation their stable expression by reverse-transcription quantitative polymerase chain reaction. However, there is a lack transcriptome, let alone...
Background: Mucopolysaccharidosis type VII (MPS VII) is a rare lysosomal storage disease first described by Sly in 1973. There are fewer than thirty reported cases world wide. This extremely disorder can present in-utero as hydrops fetalis and has high recurrence rate. However, prenatal diagnosis the absence of previously affected child, not been to date. Case: case non-consanguineous couple, with no history child MPS VII, presenting recurrent fetalis. During work-up, fetus was diagnosed...
There is significant morbidity associated with fragile X syndrome. Unfortunately, most maternal carriers are clinically silent during their reproductive years. Because of this, many experts have put forward the notion preconception or prenatal carrier screening for females. This study aimed to determine prevalence syndrome pre-mutation and asymptomatic full-mutation in a Chinese pregnant population, distribution cytosine-guanine-guanine (CGG) repeat numbers using robust mental retardation 1...
A fetus of Chinese descent presented with ultrasound features anemia at 20 weeks' gestation. Father had low a mean corpuscular volume (MCV) level. Multiplex gap-polymerase chain reaction (gap-PCR) excluded common α-thalassemia (α-thal) deletions and mutations PCR sequencing the α1- α2-globin genes were negative. The normal karyotype. Array comparative genomic hybridization (aCGH) showed single copy loss 189.87 kb in chromosome 11p15.4, involving whole β-globin gene cluster, inherited from...
Circulating placental-derived RNA is useful for noninvasive prenatal investigation. However, in addition to placental gene expression, there are limited investigations on other biological parameters that may affect the circulating profile. In this study, we explored two of these potential parameters.We first demonstrated existence such by comparing relative levels a panel transcripts between placentas and maternal plasma digital PCRs. We then compared post-delivery clearance serial samples...
Objective We sought to identify factors associated with a successful trial of labor (TOL) following two cesarean deliveries (CDs) in contemporary North American cohort. Study Design This is retrospective cohort study term, nonanomalous, singleton, vertex pregnancies attempting vaginal birth after (VBAC) history previous CDs the United States from 2012 2014. Maternal and intrapartum were analyzed using chi-square tests multivariable logistic regression. Results A total 22,762 women met...
Abstract RNA transcripts circulating in peripheral blood represent an important source of non-invasive biomarkers. To accurately quantify the levels a transcript, one needs to normalize data with internal control reference genes, which are detected at relatively constant across different samples. A few stably-expressed gene candidates have be selected from transcriptome before validation their stable expression by reverse-transcription quantitative polymerase chain reaction. However, there...
To assess the suitability of INTERGROWTH-21st biometry standards in comparison to locally adopted standards. A retrospective study fetal measurements 2nd or 3rd trimesters performed on East Asian women carrying singleton pregnancies between January 2009 and June 2014. Standardised residuals (z-score) for Abdominal Circumference (AC), Head (HC), Femur Length (FL) Biparetal Diameter (BPD) according gestational age, were determined using local reference Z-scores ±1.282, ±1.645 ±1.881,...
We describe two cases of spontaneous twin anemia polycythemia sequence (TAPS). In Case 1, TAPS was suspected at 21 weeks because discrepancy in placental echogenicity portions the placenta. However, antenatal (AN) diagnostic criteria for were not met. MCAPSV recipient low but that donor never >1.5 MoM. The diagnosis confirmed after delivery. 2, twins 30 0.89 and 1.42 MoM respectively. normal. Routine monitoring later found single intrauterine death (IUD). surviving fetus dropped to 0.7...
To determine the preference of testing (non-invasive prenatal [NIPT] vs invasive with chromosomal microarray) when women are screened ‘High Risk’ in Down's syndrome screening. This was a prospective study conducted between July 2015 and February 2016. Women high risk for but without fetal abnormalities on ultrasound were recruited. They counselled following options: 1) diagnostic test microarray karyotyping by chorionic villi sampling or amniocentesis which had 0.1–0.2% miscarriage risk; 2)...