Washington University’s Cytogenetics and Molecular Pathology Laboratory offers a variety of prenatal testing including chromosome analysis, chromosomal microarray analysis (CMA) and fluorescence in-situ hybridization (FISH).
Indications for testing include, but are not limited to: advanced maternal age; a previous child or pregnancy with a chromosomal abnormality; family history of a sporadic or inherited chromosomal abnormality; known carrier status of sex-linked diseases; abnormal findings by ultrasound (eg: IUGR, malformations); olygohydramnios or polyhydramnios; low or high maternal serum alpha fetoprotein and abnormal results with other prenatal tests.
Chromosome analysis and CMA is also available for products of conception testing.
| Summary | Detects aneuploidy, rearrangements, deletions, inversions |
| Specimen types | Amniotic fluid (AF), chorionic villi sampling (CVS), percutaneous umbilical blood sampling (PUBS), products of conception (POC) |
| Turnaround times | Depends on specimen type. AF, CVS, PUBS: 14 days POC: 21-30 days |
| Summary | Affymetrix CytoScan HD assay with genomic DNA extraction to detect small gains and losses across the entire genome |
| Specimen types | Amniotic fluid (AF), chorionic villi sampling (CVS), percutaneous umbilical blood sampling (PUBS), products of conception (POC) |
| Turnaround times | 21-28 days |
| Summary | Aneuploidy and microdeletion testing |
| Specimen types | Amniotic fluid (AF), chorionic villi sampling (CVS), percutaneous umbilical blood sampling (PUBS), products of conception (POC) |
| Specific Tests Offered | Aneuscreen (13/21, 18/X/Y) Angelman (D15S10) Cri du Chat (EGR1) DiGeorge/VCF (TUPLE1) Miller-Dieker (LIS1) Prader-Willi (SNRPN) Smith-Magenis (SMS) SRY gene (SRY) Steroid Sulfatase Deficiency (STS) Williams (ELN) Wolf-Hirschhorn (WHS) 1p36 deletion (p58) |
| Turnaround times | Depends on test. Aneuscreen: 3-5 days; STAT available in 24-48 hours Microdeletion testing: 10-21 days |