Conventional cytogenetics (chromosome analysis) analyze the whole genome in a single assay. Developed over 50 years ago, this assay still plays a vital role in postnatal diagnostics because it allows for simultaneous characterization of chromosome number and structure.
Test details and complementary testing
- Standard methodology is used for G-banded chromosome analysis.
- This test analyzes fetal cells during a pregnancy OR after a pregnancy loss. Postnatal testing on maternal, paternal, or newborn blood specimens such as, Postnatal Chromosome Analysis, Postnatal FISH, or Postnatal Microarray, must be ordered separately.
- In conjunction with Chromosome Analysis, FISH, and/or Microarray, Amniotic Fluid AFP (AF-AFP) can be ordered on amniotic fluid samples with a gestational age of 22 weeks 6 days or less. (AChE should be ordered, instead of AF-AFP, if gestational age is 23 weeks or greater). In most situations if AF-AFP is positive, AChE will be completed. These non-genetic send-out tests can be ordered on our laboratory’s test request form, but are performed, reported, and billed by UNMC Regional Pathology Services and questions for these tests should be directed to their laboratory by calling 402-559-6420.
- Postnatal Chromosome Analysis on maternal (or paternal) blood can be ordered to identify a chromosomal rearrangement, such as a balanced translocation, found in 5-8% of individuals with recurrent pregnancy loss.1,2
- Braekeleer MD, Dao TN. Cytogenetic studies in couples experiencing repeated pregnancy losses. Hum Reprod. 5(5):519-528, 1990.
- Harger JH, Archer DF, Marchese SG, Muracca-Clemons M, Garver KL. Etiology of Recurrent Pregnancy Losses and Outcome of Subsequent Pregnancies. Obstet Gynecol. 62(5):574-581, 1983.