New Service Development


 June 2017

 

Update of Prenatal Microarray Testing (for samples received from June 12th 2017)

Raised nuchal translucency (NT) <3.5mm at 12-14 weeks

 

Where raised NT is an isolated finding, with no evidence of other structural abnormalities, only those cases where the NT measurement is greater than or equal to 3.5mm will be offered microarray testing.

Where structural fetal abnormalities have been identified, in the presence or absence of 'raised NT', microarray analysis will be carried out.

 

All patients who have invasive testing will be offered rapid trisomy testing by QF-PCR. 

 

Please note that we will attempt to store DNA from all prenatal samples received. If further genetic testing becomes appropriate during the pregnancy, please contact the laboratory to discuss further testing. 

 

 

Targeted Chromosome Analysis in Prenatal (amniotic fluid only) and Postnatal cases - with an unequivocal non-mosaic abnormal trisomy 13, 18 or 21 chromosome finding by rapid QF-PCR or interphase FISH testing



Where QF-PCR identifies a trisomy in a prenatal sample or interphase FISH identifies a trisomy in a postnatal sample, targeted analysis for the abnormal chromosome will be performed to confirm the particular trisomy, exclude the presence of a Robertsonian translocation if applicable, and where appropriate identify the chromosomal sex of the fetus.

 

 

 

February 2017

 

Microarray testing for patients with ambiguous genitalia/disorders of sexual development

From February 2017, the laboratory will offer microarray testing for patients with ambiguous genitalia/disorder of sexual development if requested by the referring clinician.  Rapid (SRY) FISH and/or karyotyping will continue to be performed in all cases as the first line test. We will indicate on the karyotype report if we are willing to perform microarray testing based on the referral details provided and will indicate if a further sample is required for DNA extraction. The referring clinician should then contact the laboratory if microarray testing is required.

 

 

 

October 2016

 

NIPT service suspension

Great Ormond Street Hospital (GOSH) will stop offering Non-Invasive Prenatal Testing (NIPT) for aneuploidy when our research finishes at the end of October. Samples will not be accepted after Friday 28th October 2016 due to a lack of funding and while we await further information on implementation of NIPT into the maternity care pathway.

 

 

NIPD

Non-invasive prenatal testing is now available for fetal sexing, cystic fibrosis, FGFR3-related skeletal conditions, FGFR2-related craniosynostosis (including Apert syndrome) and as a bespoke test for family-specific mutations.  Please see our NIPD information sheet for more details.

 

 

February 2016

 

The UK Genetic Testing Network (UKGTN) has approved the following Gene Dossier submissions from the NE Thames Regional Genetics Service:

 

Tubulopathies 37 gene panel

 

 

December 2015

 

The UK Genetic Testing Network (UKGTN) has approved the following Gene Dossier submissions from the NE Thames Regional Genetics Service:

 

Congenital adrenal hyperplasia - using cell free fetal DNA (cffDNA) for non-invasive prenatal diagnosis (NIPD)

 

Crouzon syndrome with acanthosis nigricans - using cell free fetal DNA (cffDNA) for non-invasive prenatal diagnosis (NIPD)

 

FGFR2-Related Craniosynostosis - using cell free fetal DNA (cffDNA) for non-invasive prenatal diagnosis (NIPD) for 28 FGFR2 mutations

 

Early Infantile Epileptic Encephalopathy (EIEE) 66 gene panel

 

Long-chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency

 

Alstrom Syndrome


Orofacialdigital Syndrome 6 Gene Panel


Skeletal Ciliopathies 23 Gene Panel


Joubert Syndrome and Senior-Loken Syndrome 24 gene panel


Visceral Heterotaxy 9 gene panel

 

Meckel Syndrome 9 gene panel


Polycystic kidney disease, Nephronophthisis and related disorders 22 Gene Panel

 

Primary Ciliary Dyskinesia & Reduced Generation of Multiple Motile Cilia Syndrome (RGMC) 31 Gene Panel

 

Bardet-Biedl Syndrome 20 Gene Panel

 

 

 

 

© 2011 Great Ormond Street Hospital for Children NHS Trust