Replacement of Cytogenetics by aCGH in Prenatal Diagnosis

May 15, 2019 updated by: Dr. Hui Pui-Wah, The University of Hong Kong

Demonstration Trial on Replacement of Cytogenetics by Array Comparative Genomic Hybridisation (aCGH) in Prenatal Diagnosis

Conventional cytogenetics has been the gold standard for chromosomal analysis in prenatal diagnosis. It allows a microscopic examination for any structural abnormalities of chromosome with a turn-around time of 2 to 3 weeks and it is also labour intensive. Array comparative genome hybridisation (aCGH) provides a platform for a higher resolution analysis of chromosomal aberrations in a shorter period of time. The effectiveness of its application in prenatal diagnosis has been examined. The main clinical limitation lies on the difficult interpretation of certain copy number variants (CNV). Our previous study has demonstrated an increase diagnostic yield of 3.2% using aCGH over conventional cytogenetics in the first-tier test study and by 6% as a further test in a cohort of fetuses with ultrasound abnormality and normal karyotype findings. This finding were consistent with the overall reported of 5.2% to 10% increased detection rate by other studies. Various authorities have also approved the use of aCGH as an adjunct diagnostic tool in prenatal cases with fetal ultrasound abnormalities.

The presence study aims to demonstrate the clinical acceptability on the use of aCGH to replace cytogenetics in prenatal diagnosis. For patients requiring invasive prenatal diagnosis by chorionic villus sampling or amniocentesis, they will be offered the options of having either conventional cytogenetics or aCGH. A standard unbiased counselling procedure will be performed by well trained midwives. For patients opting for conventional cytogenetics, the current procedure of karyotyping will be performed. For those opting for aCGH, a quantitative fluorescent Polymerase Chain Reaction (PCR) will be performed first to exclude common aneuploidies and triploidies. aCGH will be arranged for those with normal PCR results and conventional cytogenetics will be reserved for visualization of clinically significant CNVs.

All patients will be asked to complete the same questionnaire that has been adopted for the study on "Questionnaire survey on Knowledge and Acceptance on Application of whole genome array Comparative Genomic Hybridisation (aCGH) in Prenatal Diagnosis".

Study Overview

Status

Completed

Conditions

Intervention / Treatment

Detailed Description

Conventional cytogenetics has been the gold standard for chromosomal analysis in prenatal diagnosis. It allows a microscopic examination for any structural abnormalities of chromosome with a turn-around time of 2 to 3 weeks and it is also labour intensive. Array comparative genome hybridisation (aCGH) provides a platform for a higher resolution analysis of chromosomal aberrations in a shorter period of time. The effectiveness of its application in prenatal diagnosis has been examined (Callaway, Shaffer, Chitty, Rosenfeld, & Crolla, 2013). The main clinical limitation lies on the difficult interpretation of certain copy number variants (CNV). Our previous study has demonstrated an increase diagnostic yield of 3.2% using aCGH over conventional cytogenetics in the first-tier test study and by 6% as a further test in a cohort of fetuses with ultrasound abnormality and normal karyotype findings (Kan et al., 2014). This finding were consistent with the overall reported of 5.2% to 10% increased detection rate by other studies (de Wit et al., 2014; Hillman et al., 2013; Hillman et al., 2011). Various authorities have also approved the use of aCGH as an adjunct diagnostic tool in prenatal cases with fetal ultrasound abnormalities (American College of Obstetricians & Gynecologists, 2013; Novelli et al., 2012).

Study Type

Observational

Enrollment (Actual)

51

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Genders Eligible for Study

Female

Sampling Method

Non-Probability Sample

Study Population

All women who require invasive prenatal diagnosis will be recruited.

Description

Inclusion Criteria:

All pregnant women requiring chorionic villus sampling or amniocentesis at Tsan Yuk Hospital

Exclusion Criteria:

Patients who cannot read or understand Chinese or English

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Prospective

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
Women undergoing invasive prenatal diagnostic procedures
For women requiring invasive prenatal diagnosis by chorionic villus sampling or amniocentesis, they will be offered the options of having either conventional cytogenetics or aCGH.
Diagnostic test: aCGH
Other Names:
  • conventional cytogenetics

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
The preference of aCGH to conventional cytogenetics
Time Frame: At the time of recruitment
Proportion of subjects choosing aCGH
At the time of recruitment

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Cost-effectiveness analysis of chromosomal microarray as primary test for prenatal diagnosis in Hong Kong
Time Frame: After completion of the aCGH for the last recruited subject in 2016
Laboratory workflow and cost of replacing conventional karyotype by aCGH are compared. The cost-effectiveness analysis is based on the diagnostic rate (number of diagnoses made/ sample size) as a measure of outcome effectiveness.
After completion of the aCGH for the last recruited subject in 2016

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

The University of Hong Kong

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

November 21, 2014

Primary Completion (Actual)

February 28, 2016

Study Completion (Actual)

February 28, 2016

Study Registration Dates

First Submitted

May 7, 2019

First Submitted That Met QC Criteria

May 15, 2019

First Posted (Actual)

May 20, 2019

Study Record Updates

Last Update Posted (Actual)

May 20, 2019

Last Update Submitted That Met QC Criteria

May 15, 2019

Last Verified

May 1, 2019

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • UW 14-465

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

Undecided

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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