Comparative Genomic HybridizationNCT04814563
Evaluation of the Relevance of Comparative Genomic Hybridization in Prenatal Diagnosis
An observational study of Comparative Genomic Hybridization, run by Central Hospital, Nancy, France at 1 site in France.
Trial summary
Pre-natal diagnosis is developing nowadays thanks to the improvement of ultrasound performances but also of genetic analysis techniques. The karyotype was previously the reference technique for genetic analysis. Read more about this study
- Who is it for?
- Any age, women only
- Conditions the study is for
- Comparative Genomic Hybridization
- How many people
- 830 participants
- Where
- 1 siteFrance
- Study dates
- 30 Mar 2021to Apr 2021
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- Women only
- No healthy volunteers
- Child, Adult, Older adult
Study population: All patients who underwent amniocentesis or chorionic villus puncture during their pregnancy due to ultrasound call sign with CGH-array performed at the Nancy University Hospital genetics laboratory
Who may be able to join
- CGH-array performed for ultrasound findings at the genetic laboratory of the Nancy University Hospital from 01/10/2012 to 31/12/2018
- Results of the CGH-array presented to the multidisciplinary pre-natal diagnosis committee of Nancy
Who cannot join
- patients who objected to the use of their data for research purposes when signing the informed consent form given during the genetic consultation
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Evaluation of the Contribution of Comparative Genomic Hybridization Compared to Karyotype for the Detection of Genetic Abnormalities According to Ultrasound Call Signs in Prenatal Screening: the Cohort of the Nancy Multidisciplinary Center for Prenatal Diagnosis From 2012 to 2018
Pre-natal diagnosis is developing nowadays thanks to the improvement of ultrasound performances but also of genetic analysis techniques.
The karyotype was previously the reference technique for genetic analysis. The development of comparative genomic hybridization, consisting of comparative genomic hybridization on DNA sequences and allowing the diagnosis of unbalanced chromosomal rearrangements, has made it possible to increase the resolution threshold for the detection of genetic anomalies. This technique can be performed both pre and post natal. In pre-natal, the indications for this genetic study are based on ultrasound signs and are regularly updated in the international literature. Due to the complete analysis of the genome and the increase of the resolution threshold, genetic anomalies not related to the detected ultrasound pathology may be discovered and may pose ethical problems from a genetic counseling point of view.
Read more
To date, the diagnostic performance of comparative genomic hybridization as a complement to karyotype is being confirmed and needs to be clarified in order to limit the risk of incidental discovery of genetic anomalies whose significance remains unknown.
Through the study that the investigator would like to carry out, the investigator seek to evaluate the diagnostic contribution of this comparative genomic hybridization technique compared to the data provided by the karyotype according to the various ultrasound call signs on the Nancy cohort of files presented to the multidisciplinary pre-natal diagnosis committee, since the launch of the comparative genomic hybridization in Nancy in 2012 until 2018.
- Conditions
- Comparative Genomic Hybridization
- Keywords
- Prenatal diagnosis, Ultrasound sign
What is being measured
The primary outcome is the main question the study is designed to answer.
CGH-array abnormality
An anomaly will be detected at CGH-array if its size is greater than or equal to 500 Kb. Size of these anomalies will be considered in a binary manner: < 10 Mb (i.e. not visible on karyotype) and ≥ 10 Mb (i.e. visible on karyotype)
Measured: baseline
Secondary outcomes (3)
Type of ultrasound call sign
The ultrasound signs will be defined by the ultrasound technician thanks to the recommended classification
Measured: baseline
Genotype-phenotype concordance
The genotype-phenotype concordance is defined by the cytogeneticist who delivers the results, according to the current scientific knowledge described in the literature
Measured: baseline
Particular gravity
The particular gravity (Yes/No) of the ultrasound sign is defined after consultation between the various health professionals gathered at the multidisciplinary pre-natal diagnosis committee (gynaecologist, paediatrician, geneticist, radiologist, histopathologists, surgeons, etc.).
Measured: baseline
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted24 Mar 2021
- Study start30 Mar 2021
- Primary completionApr 2021 (estimated)
- Study completionApr 2021 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (7)Papers the sponsor has linked to this study.
- Other trials for Comparative Genomic HybridizationStudies of the same condition, open and under way.
- More trials run by Central Hospital, Nancy, FranceThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Retrospective
- Enrolment
- 830 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Central Hospital, Nancy, France
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, PERDRIOLLE-GALET Estelle, Central Hospital, Nancy, France
- Investigators
- Estelle PERDRIOLLE-GALET, Doctor, Principal investigator, Central Hospital, Nancy, France
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04814563
- Sponsor's protocol ID
- 2020PI288
- Status last verified
- Apr 2021
- First submitted
- 22 Mar 2021
- Last updated
- 6 Apr 2021
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Publications
Rudolf G, Lovrecic L, Tul N, Teran N, Peterlin B. The frequency of CNVs in a cohort population of consecutive fetuses with congenital anomalies after the termination of pregnancy. Mol Genet Genomic Med. 2019 Jun;7(6):e658. doi: 10.1002/mgg3.658. Epub 2019 Apr 19.
PubMed 31004418Stosic M, Levy B, Wapner R. The Use of Chromosomal Microarray Analysis in Prenatal Diagnosis. Obstet Gynecol Clin North Am. 2018 Mar;45(1):55-68. doi: 10.1016/j.ogc.2017.10.002. Epub 2017 Dec 9.
PubMed 29428286Lo JO, Shaffer BL, Feist CD, Caughey AB. Chromosomal microarray analysis and prenatal diagnosis. Obstet Gynecol Surv. 2014 Oct;69(10):613-21. doi: 10.1097/OGX.0000000000000119.
PubMed 25336071Lee CN, Lin SY, Lin CH, Shih JC, Lin TH, Su YN. Clinical utility of array comparative genomic hybridisation for prenatal diagnosis: a cohort study of 3171 pregnancies. BJOG. 2012 Apr;119(5):614-25. doi: 10.1111/j.1471-0528.2012.03279.x. Epub 2012 Feb 7.
PubMed 22313859Wou K, Levy B, Wapner RJ. Chromosomal Microarrays for the Prenatal Detection of Microdeletions and Microduplications. Clin Lab Med. 2016 Jun;36(2):261-76. doi: 10.1016/j.cll.2016.01.017. Epub 2016 Mar 28.
PubMed 27235911Levy B, Wapner R. Prenatal diagnosis by chromosomal microarray analysis. Fertil Steril. 2018 Feb;109(2):201-212. doi: 10.1016/j.fertnstert.2018.01.005.
PubMed 29447663Wapner RJ, Martin CL, Levy B, Ballif BC, Eng CM, Zachary JM, Savage M, Platt LD, Saltzman D, Grobman WA, Klugman S, Scholl T, Simpson JL, McCall K, Aggarwal VS, Bunke B, Nahum O, Patel A, Lamb AN, Thom EA, Beaudet AL, Ledbetter DH, Shaffer LG, Jackson L. Chromosomal microarray versus karyotyping for prenatal diagnosis. N Engl J Med. 2012 Dec 6;367(23):2175-84. doi: 10.1056/NEJMoa1203382.
PubMed 23215555
Study at a glance
From the registry record, last updated by the sponsor on 6 Apr 2021. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Evaluation of the Contribution of Comparative Genomic Hybridization Compared to Karyotype for the Detection of Genetic Abnormalities According to Ultrasound Call Signs in Prenatal Screening: the Cohort of the Nancy Multidisciplinary Center for Prenatal Diagnosis From 2012 to 2018
- ClinicalTrials.gov ID
- NCT04814563
- Acronym / sponsor ID
- 2020PI288
- Conditions
- Comparative Genomic Hybridization
- Keywords
- Prenatal diagnosis, Ultrasound sign
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 830 participants (estimated)
- Lead sponsor
- Central Hospital, Nancy, FranceUniversity, hospital or other
- Study start
- 30 Mar 2021 (actual)
- Primary completion
- Apr 2021 (estimated)
- Study completion
- Apr 2021 (estimated)
- First posted
- 24 Mar 2021 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
Pre-natal diagnosis is developing nowadays thanks to the improvement of ultrasound performances but also of genetic analysis techniques.
The karyotype was previously the reference technique for genetic analysis. The development of comparative genomic hybridization, consisting of comparative genomic hybridization on DNA sequences and allowing the diagnosis of unbalanced chromosomal rearrangements, has made it possible to increase the resolution threshold for the detection of genetic anomalies. This technique can be performed both pre and post natal. In pre-natal, the indications for this genetic study are based on ultrasound signs and are regularly updated in the international literature. Due to the complete analysis of the genome and the increase of the resolution threshold, genetic anomalies not related to the detected ultrasound pathology may be discovered and may pose ethical problems from a genetic counseling point of view.
To date, the diagnostic performance of comparative genomic hybridization as a complement to karyotype is being confirmed and needs to be clarified in order to limit the risk of incidental discovery of genetic anomalies whose significance remains unknown.
Through the study that the investigator would like to carry out, the investigator seek to evaluate the diagnostic contribution of this comparative genomic hybridization technique compared to the data provided by the karyotype according to the various ultrasound call signs on the Nancy cohort of files presented to the multidisciplinary pre-natal diagnosis committee, since the launch of the comparative genomic hybridization in Nancy in 2012 until 2018.
Study design
- Observational model
- Cohort
- Time perspective
- Retrospective
Who may qualify
- Sex
- Female only
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- All patients who underwent amniocentesis or chorionic villus puncture during their pregnancy due to ultrasound call sign with CGH-array performed at the Nancy University Hospital genetics laboratory
Key inclusion criteria (2 listed)
- CGH-array performed for ultrasound findings at the genetic laboratory of the Nancy University Hospital from 01/10/2012 to 31/12/2018
- Results of the CGH-array presented to the multidisciplinary pre-natal diagnosis committee of Nancy
Key exclusion criteria (1 listed)
- patients who objected to the use of their data for research purposes when signing the informed consent form given during the genetic consultation
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
CGH-array abnormality
Time frame: baseline
An anomaly will be detected at CGH-array if its size is greater than or equal to 500 Kb. Size of these anomalies will be considered in a binary manner: < 10 Mb (i.e. not visible on karyotype) and ≥ 10 Mb (i.e. visible on karyotype)
3 secondary outcomes
Type of ultrasound call sign
Time frame: baseline
Genotype-phenotype concordance
Time frame: baseline
Particular gravity
Time frame: baseline
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 6 Apr 2021.
- Background: PubMed 31004418Rudolf G, Lovrecic L, Tul N, Teran N, Peterlin B. The frequency of CNVs in a cohort population of consecutive fetuses with congenital anomalies after the termination of pregnancy. Mol Genet Genomic Med. 2019 Jun;7(6):e658. doi: 10.1002/mgg3.658. Epub 2019 Apr 19.
- Background: PubMed 29428286Stosic M, Levy B, Wapner R. The Use of Chromosomal Microarray Analysis in Prenatal Diagnosis. Obstet Gynecol Clin North Am. 2018 Mar;45(1):55-68. doi: 10.1016/j.ogc.2017.10.002. Epub 2017 Dec 9.
- Background: PubMed 25336071Lo JO, Shaffer BL, Feist CD, Caughey AB. Chromosomal microarray analysis and prenatal diagnosis. Obstet Gynecol Surv. 2014 Oct;69(10):613-21. doi: 10.1097/OGX.0000000000000119.
- Background: PubMed 22313859Lee CN, Lin SY, Lin CH, Shih JC, Lin TH, Su YN. Clinical utility of array comparative genomic hybridisation for prenatal diagnosis: a cohort study of 3171 pregnancies. BJOG. 2012 Apr;119(5):614-25. doi: 10.1111/j.1471-0528.2012.03279.x. Epub 2012 Feb 7.
- Background: PubMed 27235911Wou K, Levy B, Wapner RJ. Chromosomal Microarrays for the Prenatal Detection of Microdeletions and Microduplications. Clin Lab Med. 2016 Jun;36(2):261-76. doi: 10.1016/j.cll.2016.01.017. Epub 2016 Mar 28.
- Background: PubMed 29447663Levy B, Wapner R. Prenatal diagnosis by chromosomal microarray analysis. Fertil Steril. 2018 Feb;109(2):201-212. doi: 10.1016/j.fertnstert.2018.01.005.
- Background: PubMed 23215555Wapner RJ, Martin CL, Levy B, Ballif BC, Eng CM, Zachary JM, Savage M, Platt LD, Saltzman D, Grobman WA, Klugman S, Scholl T, Simpson JL, McCall K, Aggarwal VS, Bunke B, Nahum O, Patel A, Lamb AN, Thom EA, Beaudet AL, Ledbetter DH, Shaffer LG, Jackson L. Chromosomal microarray versus karyotyping for prenatal diagnosis. N Engl J Med. 2012 Dec 6;367(23):2175-84. doi: 10.1056/NEJMoa1203382.
Related trials for Comparative Genomic Hybridization
RecruitingObservational study
Genetics of Congenital Heart Disease
Congenital Heart Disease
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Estelle PERDRIOLLE-GALET, Doctor principal investigator
Central Hospital, Nancy, France
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Comparative Genomic Hybridization, run by Central Hospital, Nancy, France at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 6 Apr 2021. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
CGH-array abnormality (time frame: baseline). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT04814563, which also lists 7 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 6 Apr 2021.