Search Results - "Kan, Anita"
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Human placental exosomes induce maternal systemic immune tolerance by reprogramming circulating monocytes
Published in Journal of nanobiotechnology (18-02-2022)“…The maternal immune system needs to tolerate the semi-allogeneic fetus in pregnancy. The adaptation occurs locally at the maternal-fetal interface as well as…”
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2
Whole-genome array CGH evaluation for replacing prenatal karyotyping in Hong Kong
Published in PloS one (05-02-2014)“…To evaluate the effectiveness of whole-genome array comparative genomic hybridization (aCGH) in prenatal diagnosis in Hong Kong. Array CGH was performed on 220…”
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3
Biallelic TMEM260 variants cause truncus arteriosus, with or without renal defects
Published in Clinical genetics (01-01-2022)“…Only two families have been reported with biallelic TMEM260 variants segregating with structural heart defects and renal anomalies syndrome (SHDRA). With a…”
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4
Revealing parental mosaicism: the hidden answer to the recurrence of apparent de novo variants
Published in Human genomics (05-10-2023)“…Abstract Mosaicism refers to the presence of two or more populations of genetically distinct cells within an individual, all of which originate from a single…”
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5
Clinical and molecular characteristics of hemophilia A affected individuals and carriers: A 24 years experience from three centers
Published in American journal of medical genetics. Part A (01-09-2024)“…Hemophilia A is a rare bleeding disorder with variable expressivity and allelic heterogeneity. Despite the advancement of prenatal diagnostics and molecular…”
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Prenatal diagnosis of Myhre syndrome with a heterozygous pathogenic variant in SMAD4 gene presented with thick nuchal translucency and cardiac abnormalities
Published in Prenatal diagnosis (01-09-2023)“…Prenatal testing was performed in a 39-year-old Chinese pregnant woman referred for increased nuchal translucency measuring 5.7 mm. Non-invasive prenatal…”
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Prenatal and postnatal diagnosis of Schuurs‐Hoeijmakers syndrome: Case series and review of the literature
Published in American journal of medical genetics. Part A (01-02-2021)“…Schuurs‐Hoeijmakers syndrome (SHS) is a rare syndrome involving a de novo variant in the PACS1 gene on chromosome 11q13. There are 36 individuals published in…”
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Experience of chromosomal microarray applied in prenatal and postnatal settings in Hong Kong
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01-06-2019)“…Chromosomal microarray (CMA) is recommended as a first tier investigation for patients with developmental delay (DD), intellectual disability (ID), autistic…”
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The clinical impact of chromosomal microarray on paediatric care in Hong Kong
Published in PloS one (15-10-2014)“…To evaluate the clinical impact of chromosomal microarray (CMA) on the management of paediatric patients in Hong Kong. We performed NimbleGen 135k…”
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Prenatal diagnosis of 5p deletion syndrome: Report of five cases
Published in The journal of obstetrics and gynaecology research (01-04-2019)“…It is difficult to prenatally identify 5p deletion (−) syndrome. Here, we report five cases of 5p‐ syndrome diagnosed by invasive prenatal diagnosis. Of them,…”
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11
Optimal timing of hepatitis B virus DNA quantification and clinical predictors for higher viral load during pregnancy
Published in Acta obstetricia et gynecologica Scandinavica (01-10-2019)“…Authorities publish recommendations on the hepatitis B virus (HBV) viral load threshold to initiate antiviral treatment but the timing of quantification during…”
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12
Diagnostic potential of the amniotic fluid cells transcriptome in deciphering mendelian disease: a proof-of-concept
Published in Npj genomic medicine (28-12-2022)“…RNA sequencing (RNA-seq) is emerging in genetic diagnoses as it provides functional support for the interpretation of variants of uncertain significance…”
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13
Dysregulation of the CD147 complex confers defective placental development: A pathogenesis of early‐onset preeclampsia
Published in Clinical and translational medicine (01-06-2022)“…PE is a multifactorial gestational complication affecting 4.6% of pregnancies worldwide.1 It is the top cause of prenatal morbidity/mortality and is associated…”
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Prenatal presentation in two fetuses with features of Beckwith Wiedemann syndrome—An unexpected diagnosis of androgenetic chimera and its clinical implications
Published in American journal of medical genetics. Part A (01-05-2022)“…Beckwith Wiedemann Syndrome (BWS, OMIM 130650) is an imprinting disorder that may present antenatally with a constellation of sonographic features namely…”
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Increasing prenatal diagnosis of chimeras with the use of noninvasive prenatal screening: Report of two cases
Published in Prenatal diagnosis (01-05-2021)“…Bulleted Statements: What's already known about this topic? The incidence of discordant fetal sex was estimated to be 1 in 1500–2000. Comprehensive evaluation…”
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Adrenomedullin has a pivotal role in trophoblast differentiation: A promising nanotechnology-based therapeutic target for early-onset preeclampsia
Published in Science advances (03-11-2023)“…Early-onset preeclampsia (EOPE) is a severe pregnancy complication associated with defective trophoblast differentiation and functions at implantation, but…”
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Identifying the genetic causes for prenatally diagnosed structural congenital anomalies (SCAs) by whole-exome sequencing (WES)
Published in BMC medical genomics (25-10-2018)“…Whole-exome sequencing (WES) has become an invaluable tool for genetic diagnosis in paediatrics. However, it has not been widely adopted in the prenatal…”
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Expanded Carrier Screening in Chinese Population - A Survey on Views and Acceptance of Pregnant and Non-Pregnant Women
Published in Frontiers in genetics (16-11-2020)“…Recessive genetic diseases impose physical and psychological impacts to both newborns and parents who may not be aware of being carriers. Expanded carrier…”
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Decision outcomes in women offered noninvasive prenatal test (NIPT) for positive Down screening results
Published in The journal of maternal-fetal & neonatal medicine (17-01-2019)“…In this first Asian study, the decision outcomes (decision conflict, decision regret, and anxiety) of 262 pregnant women offered noninvasive prenatal test…”
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Antenatal counselling of congenital surgical anomalies: A decade of experience in a local tertiary centre
Published in Journal of paediatrics and child health (01-05-2021)“…Aim This study reviewed the experience of a tertiary paediatric surgery and obstetric centre on prenatal counselling of congenital surgical anomalies and to…”
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