Clinical Indication ID & Name
Fetus with a likely chromosomal abnormality
Test Group
Core
Specialties
Test code
R22.1
Test name
Fetus with a likely chromosomal abnormality
Target genes
Genomewide
Test scope
n/a
Test method/ technology
Common aneuploidy testing
Optimal Family Structure
n/a
Eligibility Criteria
This indication is relevant to:
• ongoing pregnancies OR
• where there has been fetal loss, termination of pregnancy or miscarriage, accompanied by additional features suggestive of chromosome abnormality OR
• death or still birth from 24 weeks and in the absence of other likely causes
Test code
R22.2
Test name
N/A
Target genes
Genomewide
Test scope
n/a
Test method/ technology
Microarray
Optimal Family Structure
n/a
Eligibility Criteria
This indication is relevant to:
• ongoing pregnancies OR
• where there has been fetal loss, termination of pregnancy or miscarriage, accompanied by additional features suggestive of chromosome abnormality OR
• death or still birth from 24 weeks and in the absence of other likely causes
Commissioning group
Core
Overlapping idications
• R401 Common aneuploidy testing – prenatal or R26 Likely common aneuploidy should be used where only common aneuploidy testing is indicated • R21 Fetal anomalies with a likely genetic cause test should be used where it is considered more appropriate and following discussion with a Clinical Geneticist • R318 Recurrent miscarriage with products of conception available for testing can be used where there has been recurrent miscarriage in the absence of additional features suggestive of chromosomal abnormality • R27 Paediatric disorders or R412 Fetal anomalies with a likely genetic cause - non urgent, should be used for non-urgent testing (e.g. where there is miscarriage, imminent fetal loss, or termination of pregnancy) in cases of fetal anomaly with likely genetic cause Referrals for testing will be triaged by the Genomic Laboratory; testing should be targeted at those where a genetic or genomic diagnosis will guide management for the proband or family.
Address for samples/request forms
Genetics Laboratory
5th Floor Tower Wing
Guy’s Hospital
London
SE1 9RT
Contact with queries
Supporting documents
n/a
Education resources
n/a
Turn around times
All our turnaround times are listed on our specific turn around page https://southeastgenomics.nhs.uk/professionals/service-turn-around-times/
Request form download
Consent record
See consent guidance in test request form
Sample requirements
Sample Requirements
Each sample must be sent labelled with 3 patient identifiers and must state the sample type clearly on the sample container.
Sample Rejection
Samples may be rejected for the following reasons:
1. Samples and request form do not show at least three identical patient identifiers
2. The sample is in the incorrect collection media
3. The request form is not sufficiently completed
4. The sample is not of sufficient volume
5. The sample is too old
Sample Storage and Volume Required:
DNA sample (2μg), amniotic fluid in a dry sterile container (20ml), CVS (20mg please discuss with the laboratory)
Storage, sample packing and transportation:
Please notify the laboratory before sending prenatal samples by e-mailing gst-tr.viapathgeneticsadmin@nhs.net. All prenatal samples must arrive in the laboratory on the day of sampling, preferably before 3pm.
Patient/Clinician Instructions:
Patient information and consent: Please ensure patient consent is obtained prior to the sample being sent to the laboratory for prenatal SNP array (please note patient consent forms should be stored and should NOT be sent to the laboratory). Referral information required: Referral form and ultrasound report (please note an ultrasound report is MANDATORY for samples requiring prenatal SNP array)
Retain samples for 12 weeks
After 12 weeks samples will be incinerated via our sensitive waste stream
If return of sample is required this should be clearly noted on the referral form.
Arrangements for the return of samples is the referring centre’s responsibility.
Patients are not permitted to attend the laboratory to collect their samples..