Bridging the gap from prenatal karyotyping to whole-genome array comparative genomic hybridization in Hong Kong: survey on knowledge and acceptance of health-care providers and pregnant women

Cheng, Hiu Yee Heidi; Kan, Anita Sik‐Yau; Hui, Pui Wah; Lee, Chin Peng; Tang, Mary Hoi Yin

doi:10.1007/s00404-017-4534-2

Cited by 6 publications

(7 citation statements)

References 16 publications

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“…Most countries and major societies already endorsed the use of CMA in place of karyotyping for prenatal diagnosis (Armour et al, ; Committee on Genetics & the Society for Maternal‐Fetal Medicine, ; Malan et al, ; RANZCOG, ; Vanakker et al, ). CMA has been commonly accepted as part of prenatal diagnosis in the last several years in Hong Kong not only to improve the prenatal care (Cheng, Kan, Hui, Lee, & Tang, ; Kan & Chan, ), but also to understand the underlying causes of the fetal abnormalities (Au et al, ; Cheung et al, ; Hui et al, ; Lau et al, ; Leung et al, ; Luk et al, ). This would not be achieved by conventional cytogenetics although CMA remained a self‐financed test.…”

Section: Introductionmentioning

confidence: 99%

Experience of chromosomal microarray applied in prenatal and postnatal settings in Hong Kong

Cheng

Chan

Leung

et al. 2019

American J of Med Genetics Pt C

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Chromosomal microarray (CMA) is recommended as a first tier investigation for patients with developmental delay (DD), intellectual disability (ID), autistic spectrum disorder (ASD), and multiple congenital anomalies (MCA). It is widely used in the prenatal and postnatal settings for detection of chromosomal aberrations. This is a retrospective review of all array comparative genomic hybridization (aCGH/ array CGH) findings ascertained in two major prenatal and postnatal genetic diagnostic centers in Hong Kong from June 2012 to December 2017. Medical records were reviewed for cases with pathogenic and variants of uncertain clinical significance (VUS). Classification of copy number variants (CNVs) was based on current knowledge and experience by August 2018. The aims of this review are to study the diagnostic yield of array CGH application in prenatal and postnatal settings in Hong Kong and to describe the spectrum of abnormalities found. Prenatal indications included abnormal ultrasound findings, positive Down syndrome screening, abnormal noninvasive prenatal test results, advanced maternal age and family history of chromosomal or genetic abnormalities. Postnatal indications included unexplained DD, ID, ASD, and MCA. A total of 1,261 prenatal subjects and 3,096 postnatal patients were reviewed. The prenatal diagnostic yield of pathogenic CNV and VUS (excluding those detectable by karyotype) was 3.5%. The postnatal diagnostic yield of pathogenic CNV was 15.2%. The detection rates for well-defined microdeletion and microduplication syndromes were 4.6% in prenatal and 6.1% (1 in 16 index patients) in postnatal cases, respectively. Chromosomes 15, 16, and 22 accounted for over 21 and 25% of pathogenic CNVs detected in prenatal and postnatal cohorts, respectively. This review provides the first large scale overview of genomic imbalance of mostly Chinese patients in prenatal and postnatal settings.

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Section: Introductionmentioning

confidence: 99%

Experience of chromosomal microarray applied in prenatal and postnatal settings in Hong Kong

Cheng

Chan

Leung

et al. 2019

American J of Med Genetics Pt C

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“…The five included papers on obstetrician's experiences of genomic diagnostic uncertainty covered a range of tests, including CMA whole genome sequencing (WGS), and exome sequencing (Table ).…”

Section: Resultsmentioning

confidence: 99%

“…Cheng et al administered a questionnaire on prenatal CMAs to 73 Hong Kong (HK) obstetricians to identify the needs and gaps prior to planned transition from karyotype to CMA . In HK, genetic counseling is most commonly carried out by obstetricians specializing in prenatal diagnosis, and the number of clinical geneticists is limited.…”

Section: Resultsmentioning

confidence: 99%

Maternity health care professionals' views and experiences of fetal genomic uncertainty: A review

et al. 2020

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The field of prenatal screening and diagnosis for fetal anomalies has been marked by a rapid succession of technological advances, including most notably, chromosomal microarray analysis, and next generation sequencing. Despite the diagnostic advantages of these technologies, their incorporation into prenatal testing has created additional challenges of revealing genomic variants of unknown or uncertain significance, and secondary findings. While detailed posttest counseling about uncertain variants is best performed by medical geneticists, many of the screening and diagnostic tests that lead to this information are actually ordered by general maternity health care professionals (HCPs), such as obstetricians, midwives, and family physicians.Maternity HCPs support pregnant women through to the conclusion of their pregnancy and the postpartum period, and thus are close observers of the psychosocial impart of fetal genomic uncertainty on women and their families. While there have been many studies exploring the handling of genomic uncertainty by genetics HCPs, there has been relatively less attention paid to maternity HCPs without speciality training in genetics. This review explores the current literature surrounding nongenetic maternity HCPs' views and experiences of genomic uncertainty and returning uncertain results in the prenatal setting.

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“…In the primary analysis, costs and outcomes from the proposed algorithm were compared with that of the current algorithm, under an ideal situation that assumed 100% of the patients are willing to pay 100% out-of-pocket for the aCGH test. In the secondary analysis, unpublished data on willingness-to-pay, which was extracted from the data set collected from the questionnaire used in our previous study [17], on the perceptions of pregnant women and healthcare providers on invasive prenatal testing were incorporated. Only 41.8% of 717 (n = 300) women from that study were willing to undergo aCGH with 100% outof-pocket payment.…”

Section: Analysesmentioning

confidence: 99%

Cost-effectiveness analysis of chromosomal microarray as a primary test for prenatal diagnosis in Hong Kong

Chung

Chan

Hui

et al. 2020

BMC Pregnancy Childbirth

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Background: Chromosomal microarray (CMA) has been shown to be cost-effective over karyotyping in invasive prenatal diagnosis for pregnancies with fetal ultrasound anomalies. Yet, information regarding preceding and subsequent tests must be considered as a whole before the true cost-effectiveness can emerge. Currently in Hong Kong, karyotyping is offered free as the standard prenatal test while genome-wide array comparative genome hybridization (aCGH), a form of CMA, is self-financed. A new algorithm was proposed to use aCGH following quantitative fluorescent polymerase chain reaction (QF-PCR) as primary test instead of karyotyping. This study aims to evaluate the cost-effectiveness of the proposed algorithm versus the current algorithm for prenatal diagnosis in Hong Kong. Methods: Between November 2014 and February 2016, 129 pregnant women who required invasive prenatal diagnosis at two public hospitals in Hong Kong were prospectively recruited. The proposed algorithm was performed for all participants in this demonstration study. For the cost-effectiveness analysis, cost and outcome (diagnostic rate) data were compared with that of a hypothetical scenario representing the current algorithm. Further analysis was performed to incorporate women's willingness-to-pay for the aCGH test. Impact of government subsidies on the aCGH test was explored as a sensitivity analysis. Results: The proposed algorithm dominated the current algorithm for prenatal diagnosis. Both algorithms were equally effective but the proposed algorithm was significantly cheaper (p ≤ 0.05). Taking into account women's willingness-to-pay for an aCGH test, the proposed algorithm was more effective and less costly than the current algorithm. When the government subsidy reaches 100%, the maximum number of diagnoses could be made. Conclusion: By switching to the proposed algorithm, cost saving can be achieved whilst maximizing the diagnostic rate for invasive prenatal diagnosis. It is recommended to implement aCGH as a primary test following QF-PCR to replace the majority of karyotyping for prenatal diagnosis in Hong Kong.

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Bridging the gap from prenatal karyotyping to whole-genome array comparative genomic hybridization in Hong Kong: survey on knowledge and acceptance of health-care providers and pregnant women

Abstract: Counseling support, training, and better understanding and communication of findings of unclear clinical significance are necessary to improve doctor-patient experience.

Cited by 6 publications

References 16 publications

Experience of chromosomal microarray applied in prenatal and postnatal settings in Hong Kong

Experience of chromosomal microarray applied in prenatal and postnatal settings in Hong Kong

Maternity health care professionals' views and experiences of fetal genomic uncertainty: A review

Cost-effectiveness analysis of chromosomal microarray as a primary test for prenatal diagnosis in Hong Kong

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