Cytogenetic Investigations for Pregnancy Miscarriage and Fetal Demise
Following exclusion of trisomies 13, 18 and 21, samples are tested using prenatal microarray. Prenatal arrays 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)
POC/fetal tissue samples are kept for 12 weeks. After this time any remaining tissue is disposed of in our hospital Sensitive Waste Stream, which includes separation of the sensitive material from other clinical waste and a witnessed disposal resulting in an auditable trail. However, it should be made clear to patients that the disposal is via incineration and does not include any type of burial or ceremony. Unfortunately, we are unable to arrange burial or cremation of these samples.
If return of POC/ fetal tissue is required this should be detailed on the referral form and return of the sample must be arranged by the referring team or the patient within the laboratory’s retention period of 12 weeks.
Patient information and consent:Please ensure patient consent is obtained prior to the sample being sent to the laboratory for prenatal microarray (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 microarray)
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/
Last updated: 26/10/2023
