Prenatal & Products of Conception Testing

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.


REQUISITIONSPECIMEN INSTRUCTIONS

Chromosome Analysis

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

Chromosomal Microarray Analysis (CMA)

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

Fluorescence In-Situ Hybridization (FISH)

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