Chromosome abnormalities account for nearly one-half of first trimester spontaneous miscarriages, with the most common abnormalities being Trisomy 16 (~19%), Trisomy 22 (~19%), Trisomy 21 (~12%), and monosomy X (~10%). Chromosome analysis performed on products of conception (POC) can provide insight into why a pregnancy loss may have occurred. In cases where POC chromosome analysis has shown a structural rearrangement of chromosomes, parental chromosome analysis follow-up studies are typically recommended. In cases where POC chromosome analysis has shown a structural rearrangement of chromosomes, parental Constitutional Chromosome Analysis follow-up studies are typically recommended. Chromosomal microarray is available by reflex if POC chromosome analysis is unsuccessful or has normal results (for non-New York clients). POC Chromosome Analysis and microarray are performed by Genetics Associates, Inc.
- Products of conception (fresh tissue, with or without reflex to microarray):
- Tissue order of preference: Chorionic villi, placenta or placental membrane, known fetal tissue (especially lung, kidney, thymus, skin).
- Quantity and handling: Please send at least 30-100 mg villi or 0.5 -1 cm3 fresh tissue(s) to our Nashville, TN laboratory (see Contact page for address). Place tissue in RPMI. Tissues placed in formalin are unacceptable. Note type of tissue(s) sent on the test requisition and whether it is fetal in origin or mixed maternal/fetal.
- Note: Please exclude biopsy needles, blades, and other foreign objects from transport tubes. These can compromise specimen viability and yield, and create hazards for employees
Do not freeze. Use cold pack for transport, make sure cold pack is not in direct contact with specimen.
10-14 days
- Soler A, Morales C, Mademont-Soler I, et al. Overview of Chromosome Abnormalities in First Trimester Miscarriages: A Series of 1,011 Consecutive Chorionic Villi Sample Karyotypes. Cytogenet Genome Res. 2017;152(2):81-89. doi:10.1159/000477707