The clinical utility of genetic testing of tissues from pregnancy losses.
OBJECTIVE
To map the current testing being undertaken following pregnancy loss across the UK and to examine the clinical utility in terms of identifying a cause for the loss and in identifying couples at risk of an unbalanced liveborn child.


METHODS
Retrospective audit.


METHODS
UK, for the year 2014.


METHODS
An audit of 6465 referrals for genetic testing of tissue samples following pregnancy loss.


METHODS
Data were obtained by questionnaire from 15 UK regional genetics laboratories.


METHODS
Data were analysed with respect to gestational age, the presence of identified fetal anomalies, methodologies used, abnormality rates and the presence of a parental balanced rearrangement.


RESULTS
Of 6465 referrals a genetic cause was identified in 22% of cases (before 12 weeks' gestation, in 47%; at 12-24 weeks, in 14%; after 24 weeks, in 6%). In 0.4% of cases a balanced parental rearrangement was identified where there was a risk of an affected liveborn child in a future pregnancy. Eighty percent of genetic imbalances identified were aneuploidy or triploidy and could be identified by quantitative fluorescence polymerase chain reaction alone. There was significant variation across the UK in acceptance criteria, testing strategies and thus level of resolution of testing.


CONCLUSIONS
Genetic testing of tissues following pregnancy loss identifies a probable cause of fetal demise in 22% of cases, but it is of low clinical utility in identifying couples at risk of a future unbalanced liveborn child. A comprehensive multidisciplinary review is needed to develop proposals for an affordable and equitable service.


CONCLUSIONS
UK audit of genetic testing of fetal loss shows variation in access to and resolution of analysis.
Wessex Regional Genetics Laboratory, Salisbury, UK.
C A
CA
Waterman
Aberdeen Medical Genetics Laboratory, Aberdeen, UK.
P
P
Batstone
Northern Genetics Service, Newcastle upon Tyne, UK.
N
N
Bown
Cytogenetics Department, University Hospitals of Leicester, Leicester, UK.
L
L
Cresswell
Bristol Genetics Laboratory, Bristol, UK.
C
C
Delmege
Northern Genetics Service, Newcastle upon Tyne, UK.
C J
CJ
English
West Midlands Regional Genetics Laboratory, Birmingham, UK.
G
G
Fews
NE Thames Regional Genetics Laboratory, London, UK.
L
L
Grimsley
West of Scotland Genetics Services, Glasgow, UK.
S
S
Imrie
Genetics Department, St George's Healthcare NHS Trust, London, UK.
A
A
Kulkarni
Genetics Department, Viapath Analytics, Guy's Hospital, London, UK.
K
K
Mann
Genetics Department, St George's Healthcare NHS Trust, London, UK.
R
R
Johnson
All Wales Medical Genetics Service, Cardiff, UK.
S M
SM
Morgan
Yorkshire Regional Genetics Service, Leeds, UK.
P
P
Roberts
East Anglian Medical Genetics Service, Cambridge, UK.
I
I
Simonic
Manchester Centre for Genomic Medicine, Manchester, UK.
S
S
Trueman
Cytogenetics department, Royal Marsden Hospital, London, UK.
M
M
Wall
West Midlands Regional Genetics Laboratory, Birmingham, UK.
D
D
McMullan
D000022:Abortion, Spontaneous / Q000235:genetics* / Q000473:pathology; D000782:Aneuploidy; D002869:Chromosome Aberrations; D025063:Chromosome Disorders / Q000175:diagnosis / Q000235:genetics; D005260:Female; D005333:Fetus / Q000473:pathology; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D008485:Medical Audit; D011247:Pregnancy; D012189:Retrospective Studies; D011795:Surveys and Questionnaires; D006113:United Kingdom
clinical utility; genetic testing; pregnancy loss