88233, 88262, 88280, 88291
Culture / Microscopy / Karyotype
Placenta, umbilical cord, and internal fetal organs are all suitable for analysis. If possible, please send chorionic villi.
Container: Sterile, leak-proof containers with transport media or sterile saline (i.e. Hanks Balanced Salt Solution). Do not place in formalin.
Optimal Quantity: 1x1x1 cm of at least two fetal tissues, one being chorionic villi
Minimum Quantity: 1 fetal tissue
Storage: Room Temperature
Stability at Room Temperature: 8 hours, then refrigerate
Transportation: Avoid freezing or heating over 35OC
Final report in 14-28 days
Indications for cytogenetic analysis on products of conception (POC) include recurrent spontaneous abortions, abnormalities on ultrasound prior to pregnancy loss, intrauterine growth retardation, confirmation of abnormal prenatal results or pregnancy loss after IVF.
Fetal tissues or extra embryonic membranes are frequently used to diagnose fetal chromosome abnormalities that are associated with approximately one-half of all first trimester spontaneous abortions. The most common chromosome abnormalities seen in spontaneous miscarriages are trisomy 16 and monosomy X. In some cases where the POC karyotype revealed a structural rearrangement, parental chromosome analysis is requested. The diagnosis of an abnormal karyotype in a POC may provide a chromosomal basis for the pregnancy loss. It may also help in clarifying the risk for future miscarriages or for the birth of a chromosomally abnormal child. Abnormal POC cytogenetic results may preclude the need for extensive infertility evaluation.
Tissues from products of conception are cultured to produce metaphase cells for G-banded chromosome analysis. Long term cultures are harvested at approximately 10-14 days, then G-banded. Analysis and karyotyping of 20 metaphases is routinely performed and additional metaphases will be studied when indicated.
Interpretation of Results
The morphologic interpretation and correlation of results on all cases is performed by a board-certified doctoral level scientist (laboratory director). The final report identifies the chromosomal sex and modal chromosome number. If abnormalities are present, they are explained in a paragraph which helps to clarify and correlate chromosomal findings with phenotype. Genetic counseling is recommended when chromosome aberrations, mosaic conditions, or unusual results are found, along with recommendation for further testing (i.e. microarray). References are included in the report to help the referring physician with interpretation, which include books or journals that contain appropriate information.