Format

Send to

Choose Destination
Prenat Diagn. 2017 Jan;37(1):61-69. doi: 10.1002/pd.4935. Epub 2016 Nov 14.

Neuropsychiatric aspects of 22q11.2 deletion syndrome: considerations in the prenatal setting.

Bassett AS1,2,3,4,5, Costain G5,6, Marshall CR7,8.

Author information

1
The Dalglish Family 22q Clinic, University Health Network, Toronto, Ontario, Canada.
2
Department of Mental Health, Toronto General Research Institute, University Health Network, Toronto, Ontario, Canada.
3
Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario, Canada.
4
Department of Psychiatry, University of Toronto, Toronto, Ontario, Canada.
5
Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, Ontario, Canada.
6
Medical Genetics Residency Training Program, University of Toronto, Toronto, Ontario, Canada.
7
The Centre for Applied Genomics and Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.
8
Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada.

Abstract

Most major neuropsychiatric outcomes of concern to families are not detectable by prenatal ultrasound. The introduction of genome-wide chromosomal microarray analysis to prenatal clinical diagnostic testing has increased the detection of pathogenic 22q11.2 deletions, which cause the most common genomic disorder. The recent addition of this and other microdeletions to non-invasive prenatal screening methods using cell-free fetal DNA has further propelled interest in outcomes. Conditions associated with 22q11.2 deletions include intellect ranging from intellectual disability to average, schizophrenia and other treatable psychiatric conditions, epilepsy, and early-onset Parkinson's disease. However, there is currently no way to predict how severe the lifetime expression will be. Available evidence suggests no major role in these neuropsychiatric outcomes for the congenital cardiac or most other structural anomalies that may be detectable on ultrasound. This article provides an outline of the lifetime neuropsychiatric phenotype of 22q11.2 deletion syndrome that will be useful to clinicians involved in prenatal diagnosis and related genetic counselling. The focus is on information that will be most relevant to two common situations: detection of a 22q11.2 deletion in a fetus or newborn, and new diagnosis of 22q11.2 deletion syndrome in a parent without a previous molecular diagnosis.

PMID:
27718271
PMCID:
PMC5243851
DOI:
10.1002/pd.4935
[Indexed for MEDLINE]
Free PMC Article

Supplemental Content

Full text links

Icon for Wiley Icon for PubMed Central
Loading ...
Support Center