Prenatal Diagnosis for Ultrasound Abnormality
Description:
Following exclusion of trisomies 13, 18 and 21, samples are tested using prenatal microarray. Prenatal microarrays are targeted to detect imbalances ≥0.4Mb, and those associated with the following microdeletion/microduplication syndrome regions:
1p36 microdeletion syndrome (OMIM 607872)
1q21.1 deletion syndrome (Thrombocytopenia-absent radius syndrome; OMIM 274000)
1q21.1 deletion syndrome (OMIM 612474)
1q21.1 duplication syndrome (OMIM 612475)
2p16.1p15 deletion syndrome (OMIM 612513)
2q32q33 deletion syndrome (OMIM 612313)
Brachydactyly-mental retardation syndrome (2q37 deletion syndrome; OMIM 600430)
3q29 deletion syndrome (OMIM 609425)
3q29 duplication syndrome (OMIM 611936)
Wolf-Hirschhorn syndrome (OMIM 194190)
Cri du Chat syndrome (5p deletion syndrome; OMIM 123450)
Sotos syndrome (OMIM 117550)
Williams-Beuren region duplication syndrome (7q11.23 duplication syndrome; OMIM 609757)
Williams-Beuren syndrome (OMIM 194050)
7q11.23 distal deletion syndrome (OMIM 613729)
Split hand/foot malformation 1 (SHFM1) (OMIM 183600)
8p23.1 deletion syndrome
Kleefstra syndrome (9q34.3 / 9p subtelomere deletion syndrome; OMIM 610253)
Wilms tumour, aniridia, genitourinary abnomalies and mental retardation syndrome (WAGR / 11p13 deletion syndrome; OMIM 194072)
Potocki-Shaffer syndrome (11p11.2 deletion syndrome; OMIM 601224)
12q14 microdeletion syndrome
Angelman syndrome (OMIM 105830)
Prader-Willi syndrome (OMIM 176270)
15q13.3 deletion syndrome (OMIM 612001)
15q24 deletion syndrome (OMIM 613406)
15q24 duplication syndrome (OMIM 613406)
15q26 overgrowth syndrome
Rubinstein-Taybi syndrome (OMIM 610543)
16p11.2p12.2 deletion syndrome (OMIM 613604)
16p11.2 deletion syndrome, distal (OMIM 613444)
16p11.2 deletion syndrome, proximal (OMIM 611913)
Miller-Dieker lissencephaly syndrome (OMIM 247200)
17p13.3 duplication syndrome (OMIM 613215)
Charcot-Marie-Tooth syndrome type 1A (CMT1A; OMIM 118220)
Hereditary Liability to Pressure Palsies (HNPP; OMIM 162500)
Potocki-Lupski syndrome (17p11.2 duplication syndrome; OMIM 610883)
Smith-Magenis syndrome (OMIM 182290)
17q11.2 deletion syndrome (NF1-microdeletion syndrome; OMIM 613675)
Renal cysts and diabetes syndrome (RCAD; OMIM 137920)
17q21.31 deletion syndrome (OMIM 610443)
Cat-Eye syndrome (OMIM 115470)
DiGeorge syndrome (22q11.2 deletion syndrome; OMIM 188400)
22q11.2 duplication syndrome (OMIM 608363)
Velocardiofacial (22q11.2 deletion syndrome; OMIM 192430)
Distal 22q11.2 deletion syndrome (OMIM 611867)
22q13.3 deletion syndrome (Phelan-Mcdermid syndrome; OMIM 606232)
X-linked ichthyosis (STS deficiency; OMIM 308100)
Pelizaeus-Merzbacher disease (OMIM 312080)
Rett syndrome (MECP2; OMIM 312750)
1p36 microdeletion syndrome (OMIM 607872)
1q21.1 deletion syndrome (Thrombocytopenia-absent radius syndrome; OMIM 274000)
1q21.1 deletion syndrome (OMIM 612474)
1q21.1 duplication syndrome (OMIM 612475)
2p16.1p15 deletion syndrome (OMIM 612513)
2q32q33 deletion syndrome (OMIM 612313)
Brachydactyly-mental retardation syndrome (2q37 deletion syndrome; OMIM 600430)
3q29 deletion syndrome (OMIM 609425)
3q29 duplication syndrome (OMIM 611936)
Wolf-Hirschhorn syndrome (OMIM 194190)
Cri du Chat syndrome (5p deletion syndrome; OMIM 123450)
Sotos syndrome (OMIM 117550)
Williams-Beuren region duplication syndrome (7q11.23 duplication syndrome; OMIM 609757)
Williams-Beuren syndrome (OMIM 194050)
7q11.23 distal deletion syndrome (OMIM 613729)
Split hand/foot malformation 1 (SHFM1) (OMIM 183600)
8p23.1 deletion syndrome
Kleefstra syndrome (9q34.3 / 9p subtelomere deletion syndrome; OMIM 610253)
Wilms tumour, aniridia, genitourinary abnomalies and mental retardation syndrome (WAGR / 11p13 deletion syndrome; OMIM 194072)
Potocki-Shaffer syndrome (11p11.2 deletion syndrome; OMIM 601224)
12q14 microdeletion syndrome
Angelman syndrome (OMIM 105830)
Prader-Willi syndrome (OMIM 176270)
15q13.3 deletion syndrome (OMIM 612001)
15q24 deletion syndrome (OMIM 613406)
15q24 duplication syndrome (OMIM 613406)
15q26 overgrowth syndrome
Rubinstein-Taybi syndrome (OMIM 610543)
16p11.2p12.2 deletion syndrome (OMIM 613604)
16p11.2 deletion syndrome, distal (OMIM 613444)
16p11.2 deletion syndrome, proximal (OMIM 611913)
Miller-Dieker lissencephaly syndrome (OMIM 247200)
17p13.3 duplication syndrome (OMIM 613215)
Charcot-Marie-Tooth syndrome type 1A (CMT1A; OMIM 118220)
Hereditary Liability to Pressure Palsies (HNPP; OMIM 162500)
Potocki-Lupski syndrome (17p11.2 duplication syndrome; OMIM 610883)
Smith-Magenis syndrome (OMIM 182290)
17q11.2 deletion syndrome (NF1-microdeletion syndrome; OMIM 613675)
Renal cysts and diabetes syndrome (RCAD; OMIM 137920)
17q21.31 deletion syndrome (OMIM 610443)
Cat-Eye syndrome (OMIM 115470)
DiGeorge syndrome (22q11.2 deletion syndrome; OMIM 188400)
22q11.2 duplication syndrome (OMIM 608363)
Velocardiofacial (22q11.2 deletion syndrome; OMIM 192430)
Distal 22q11.2 deletion syndrome (OMIM 611867)
22q13.3 deletion syndrome (Phelan-Mcdermid syndrome; OMIM 606232)
X-linked ichthyosis (STS deficiency; OMIM 308100)
Pelizaeus-Merzbacher disease (OMIM 312080)
Rett syndrome (MECP2; OMIM 312750)
Clinical details:
All prenatal samples referred to our laboratory are tested using QF-PCR as a first test. Additional testing with prenatal microarray is offered because scientific evidence shows that these groups of women are at increased risk for other chromosomal rearrangements in addition to the major trisomies. The following groups of women will be suitable for dual testing with QF-PCR and prenatal microarray:
*Ultrasound detection of any major structural abnormality including nuchal translucency of 3.5mm or greater before 14 weeks gestation, or a nuchal fold measuring 6mm or greater between 14 and 20 weeks gestation.
* Ultrasound detection of normal variants of aneuploidy is not an indication for prenatal microarray testing.
*Ultrasound detection of any major structural abnormality including nuchal translucency of 3.5mm or greater before 14 weeks gestation, or a nuchal fold measuring 6mm or greater between 14 and 20 weeks gestation.
* Ultrasound detection of normal variants of aneuploidy is not an indication for prenatal microarray testing.
Synonyms or keywords:
Rapid aneuploidy detection, Prenatal array CGH, Prenatal karyotyping. Prenatal testing, CVS, AF, array CGH, aCGH.
Department:
Location:
Sample type and Volume required:
DNA sample (2μg), amniotic fluid in a dry sterile container (20ml), CVS (20mg please discuss with the laboratory)
Call in advance:
Please notify the laboratory before sending prenatal samples by e-mailing gst-tr.viapathgeneticsadmin@nhs.net
Turnaround time:
3 working days for QF-PCR, 14 days for prenatal array CGH
Patient instructions:
PDF (44Kb)
PDF (135Kb)
Special sample instructions:
Patient information and consent:
Please ensure patient consent is obtained prior to the sample being sent to the laboratory for prenatal array CGH (please note patient consent forms should be stored and should NOT be sent to the laboratory).
The patient prenatal array information leaflet and consent form can be found below.
Referral information required:
Referral form and ultrasound report (please note an ultrasound report is MANDATORY for samples requiring prenatal array CGH)
Request form available at: https://southeastgenomics.nhs.uk/wp-content/uploads/2023/08/SE-GLH-Non-WGS-Genetic-Test-Request-Form-August-2023-v1.5.pdf
- R22 Fetus with a likely chromosomal abnormality (PCR and microarray)
Include the relevant R code (above) on the referral form; for further details and the eligibility criteria for testing please see https://www.england.nhs.uk/publication/national-genomic-test-directories/
Storage and transport:
All prenatal samples must arrive in the laboratory on the day of sampling, preferably before 3pm.
Time limit for extra tests:
Do not spin down or freeze samples before sending.
Contacts:
For clinical advice or interpretation of results, please contact the laboratory in the first instance.
Laboratory:
PDF (136Kb)
Last updated: 28/11/2023
