Tags

Type your tag names separated by a space and hit enter

Use of array genomic hybridization technology in prenatal diagnosis in Canada.
J Obstet Gynaecol Can 2011; 33(12):1256-9JO

Abstract

OBJECTIVE

To summarize for obstetrical care providers the current literature on array genomic hybridization in prenatal diagnosis and to outline the recommendations of the Canadian College of Medical Geneticists regarding the use of this new technology with respect to prenatal diagnosis.

EVIDENCE

PubMed and Medline were searched for articles published in English between 2004 and 2010, using the key words DNA QF-PCR, quantitative fluorescent polymerase chain reaction, fetal chromosomal abnormalities, prenatal diagnosis, array genomic hybridization, fetal structural anomalies, and copy number variants. Results were restricted to systematic reviews, randomized control trials/controlled clinical trials, and observational studies. Searches were updated on a regular basis, and articles were incorporated in the guideline to September 2011. Grey (unpublished) literature was identified through searching the websites of health technology assessment and health technology assessment-related agencies, clinical practice guideline collections, clinical trial registries, and national and international medical specialty societies.

VALUES

The quality of evidence in this document was rated using the criteria described in the Report of the Canadian Task Force on Preventive Health Care (Table 1).

RECOMMENDATIONS

1. Array genomic hybridization is not recommended in pregnancies at low risk for a structural chromosomal abnormality; for example, advanced maternal age, positive maternal serum screen, previous trisomy, or the presence of "soft markers" on fetal ultrasound. (III-D) 2. Array genomic hybridization may be an appropriate diagnostic test in cases with fetal structural abnormalities detected on ultrasound or fetal magnetic resonance imaging; it could be done in lieu of a karyotype if rapid aneuploidy screening is negative and an appropriate turnaround time for results is assured. (II-2A) 3. Any pregnant woman who qualifies for microarray genomic hybridization testing should be seen in consultation by a medical geneticist before testing so that the benefits, limitations, and possible outcomes of the analysis can be discussed in detail. The difficulties of interpreting some copy number variants should also be discussed. This will allow couples to make an informed decision about whether or not they wish to pursue such prenatal testing. (III-A).

Authors+Show Affiliations

Montreal QC.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Practice Guideline

Language

eng

PubMed ID

22166281

Citation

Duncan, Alessandra, et al. "Use of Array Genomic Hybridization Technology in Prenatal Diagnosis in Canada." Journal of Obstetrics and Gynaecology Canada : JOGC = Journal D'obstetrique Et Gynecologie Du Canada : JOGC, vol. 33, no. 12, 2011, pp. 1256-9.
Duncan A, Langlois S, SOGC Genetics Committee, et al. Use of array genomic hybridization technology in prenatal diagnosis in Canada. J Obstet Gynaecol Can. 2011;33(12):1256-9.
Duncan, A., & Langlois, S. (2011). Use of array genomic hybridization technology in prenatal diagnosis in Canada. Journal of Obstetrics and Gynaecology Canada : JOGC = Journal D'obstetrique Et Gynecologie Du Canada : JOGC, 33(12), pp. 1256-9.
Duncan A, et al. Use of Array Genomic Hybridization Technology in Prenatal Diagnosis in Canada. J Obstet Gynaecol Can. 2011;33(12):1256-9. PubMed PMID: 22166281.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Use of array genomic hybridization technology in prenatal diagnosis in Canada. AU - Duncan,Alessandra, AU - Langlois,Sylvie, AU - ,, AU - ,, PY - 2011/12/15/entrez PY - 2011/12/15/pubmed PY - 2012/4/17/medline SP - 1256 EP - 9 JF - Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstetrique et gynecologie du Canada : JOGC JO - J Obstet Gynaecol Can VL - 33 IS - 12 N2 - OBJECTIVE: To summarize for obstetrical care providers the current literature on array genomic hybridization in prenatal diagnosis and to outline the recommendations of the Canadian College of Medical Geneticists regarding the use of this new technology with respect to prenatal diagnosis. EVIDENCE: PubMed and Medline were searched for articles published in English between 2004 and 2010, using the key words DNA QF-PCR, quantitative fluorescent polymerase chain reaction, fetal chromosomal abnormalities, prenatal diagnosis, array genomic hybridization, fetal structural anomalies, and copy number variants. Results were restricted to systematic reviews, randomized control trials/controlled clinical trials, and observational studies. Searches were updated on a regular basis, and articles were incorporated in the guideline to September 2011. Grey (unpublished) literature was identified through searching the websites of health technology assessment and health technology assessment-related agencies, clinical practice guideline collections, clinical trial registries, and national and international medical specialty societies. VALUES: The quality of evidence in this document was rated using the criteria described in the Report of the Canadian Task Force on Preventive Health Care (Table 1). RECOMMENDATIONS: 1. Array genomic hybridization is not recommended in pregnancies at low risk for a structural chromosomal abnormality; for example, advanced maternal age, positive maternal serum screen, previous trisomy, or the presence of "soft markers" on fetal ultrasound. (III-D) 2. Array genomic hybridization may be an appropriate diagnostic test in cases with fetal structural abnormalities detected on ultrasound or fetal magnetic resonance imaging; it could be done in lieu of a karyotype if rapid aneuploidy screening is negative and an appropriate turnaround time for results is assured. (II-2A) 3. Any pregnant woman who qualifies for microarray genomic hybridization testing should be seen in consultation by a medical geneticist before testing so that the benefits, limitations, and possible outcomes of the analysis can be discussed in detail. The difficulties of interpreting some copy number variants should also be discussed. This will allow couples to make an informed decision about whether or not they wish to pursue such prenatal testing. (III-A). SN - 1701-2163 UR - https://www.unboundmedicine.com/medline/citation/22166281/Use_of_array_genomic_hybridization_technology_in_prenatal_diagnosis_in_Canada_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S1701-2163(16)35112-X DB - PRIME DP - Unbound Medicine ER -