Chromosome Analysis, Routine; Short Study (Amniotic Fluid)

Clinical Information

Prenatal chromosome analysis can be indicated if an abnormal NIPS result has been received during pregnancy or if ultrasound features are suspicious of aneuploidy. Prenatal chromosome analysis may also be considered to evaluate for structural rearrangements (ex. translocations or inversions) or to further clarify a prenatal microarray or whole genome result.

Technical Information

Short study chromosome analysis includes routine karyotyping using G-banding, but fewer cells are analyzed than with routine karyotyping. For short study chromosome analysis, a minimum of 5 cells are counted and a minimum of 2 cells are analyzed for chromosomal abnormalities from G-banded preparations. Short study chromosome analysis can be used to complement other methods such as microarray to detect certain rearrangements that can only be identified by karyotype.

Specimen Requirements

• This test can be performed from direct amniotic fluid or on cultured amniocytes.
• If sending direct fluid for microarray only, 10-20 ml of amniotic fluid is requested. Chromosomes and FISH will require an additional 10-15 ml of fluid.
• If sending cultured flasks, 2x T25 confluent flasks are required.

 

• A maternal sample is recommended to accompany the prenatal specimen for maternal cell contamination (MCC) studies. The preferred maternal sample type for MCC is 3-4ml of peripheral blood collected in an EDTA (purple top) tube. Additional accepted maternal sample types include extracted DNA or saliva. Blood and saliva kits are available by request.
• Send approximately 5µg of extracted DNA at a requested concentration of 90-130 ng/µl.
• Saliva samples must be submitted in an approved saliva kit.

Transport Instructions

Amniotic fluid should be kept at room temperature; do not freeze or refrigerate. Specimen should be sent by courier or overnight mail to arrive at the laboratory the next day.
The blood sample for MCC should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.
Extracted DNA should be sent at room temperature via overnight delivery.
Saliva is stable at room temperature and can be delivered via overnight or ground shipping.