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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.
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| Measure | Description | Time Frame |
|---|---|---|
| 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) | baseline |
| Measure | Description | Time Frame |
|---|---|---|
| Type of ultrasound call sign | The ultrasound signs will be defined by the ultrasound technician thanks to the recommended classification | 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 |
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Inclusion Criteria:
Exclusion Criteria:
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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
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| Name | Affiliation | Role |
|---|---|---|
| Estelle PERDRIOLLE-GALET, Doctor | Central Hospital, Nancy, France | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Nancy University Hospital | Nancy | 54000 | France |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 31004418 | Background | 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. | |
| 29428286 | Background | Stosic 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. |
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| 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.). | baseline |
| 25336071 | Background | Lo 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. |
| 22313859 | Background | Lee 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. |
| 27235911 | Background | Wou 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. |
| 29447663 | Background | Levy 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. |
| 23215555 | Background | Wapner 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. |