Chromosome Analysis - Prenatal - Amniotic Fluid with ACHE
Use
Chromosome Analysis - Prenatal - Amniotic Fluid with ACHE is a crucial test for the detection of chromosomal abnormalities in fetuses through an analysis of amniocytes. Utilizing Giemsa banding (G-banding) techniques, this procedure detects congenital anomalies and genetic disorders by examining the number, structure, and banding patterns of chromosomes. It is particularly indicated for pregnancies with ultrasound findings suggesting chromosome anomalies or a significant maternal age risk factor. Additionally, the test measures acetylcholinesterase (ACHE), which is associated with neural tube defects, providing comprehensive diagnostics for prenatal cases. The outcomes enable informed clinical management and decision-making for prospective parents.
Special Instructions
Referring centers must consult with our laboratory on prenatal cases before sample submission. Genetic counselors are available for assistance and coordination of testing. It's important to note that while the test provides significant insights, it does not rule out all genetic conditions. Further testing may be necessary depending on initial findings, and fetal cell cultures remain in the lab for seven days, after which they will be discarded if no additional tests are requested.
Limitations
There are specific limitations associated with this standard cytogenetic analysis technique, such as its inability to detect subtle chromosomal rearrangements smaller than 10Mb and low-level mosaicism. Other microdeletions or duplications may require Chromosomal Microarray Analysis, as they cannot be identified through this standard methodology. The test results should also be interpreted within the context of ultrasonography, as a positive outcome does not necessarily confirm an anomaly, and further testing may be needed based on clinical judgments.
Methodology
Chromosomal / Cytogenetics (FISH)
Biomarkers
Result Turnaround Time
14 days
Related Documents
For more information, please review the documents below
Specimen
Amniotic Fluid (Fresh)
Volume
20-30 cc
Minimum Volume
2 cc
Container
15 ml conical centrifuge tubes
Collection Instructions
Collect 20-30 cc of fluid in two sterile 15 ml conical centrifuge tubes. Discard the first 2 cc of fluid collected.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 48 hrs |