Evaluation of the Relevance of Comparative Genomic Hybridization in Prenatal Diagnosis
Evaluation of the Relevance of Comparative Genomic Hybridization in Prenatal Diagnosis
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.
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