Comparative Genomic Hybridization
Conditions
Keywords
Prenatal diagnosis, Ultrasound sign
Brief 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. 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.
Interventions
None listed
Sponsors
Central Hospital, Nancy, France
Study design
Observational model
COHORT
Time perspective
RETROSPECTIVE
Eligibility
Sex/Gender
FEMALE
Healthy volunteers
No
Inclusion criteria
* 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
Exclusion criteria
* patients who objected to the use of their data for research purposes when signing the informed consent form given during the genetic consultation
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| CGH-array abnormality | 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) |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Type of ultrasound call sign | baseline | The ultrasound signs will be defined by the ultrasound technician thanks to the recommended classification |
| Genotype-phenotype concordance | baseline | The genotype-phenotype concordance is defined by the cytogeneticist who delivers the results, according to the current scientific knowledge described in the literature |
| Particular gravity | baseline | 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.). |
Countries
France
Outcome results
None listed