Post harvesting and fixation of cells on slide, a partial digestion is carried out using trypsin-EDTA solution. This process develops bands on chromosome, further based on size and banding pattern chromosome are placed in respective group and compared with international standard idiogram. Thus the process is tedious and needs expertise to analyze and report finer variation in chromosome.
Need: Following are the clinical situation where in Karyotype analysis is recommended
- Congenital anomalies
- ambiguous genetelia
- primary amenorrhea
- male and female infertility
- idiopathic mental retardation
- Symptoms of standard chromosomal disorders like Down’s, Edwards, Patau, Klinefelter, etc.
- High risk pregnancy
- double-triple marker positive
- Any anomalies observed during ultrasonography
- Blood cancer
Common anomalies observed: There are many chromosomal anomalies observed in population. Deletion, Duplication, Inversion, Translocation, isochromosomes, etc. which may lead to clinical manifestation of broad spectrum. Thus it becomes very important and necessary tool for clinicians in most specialization like Pediatrician, Obs-Gynaec, Oncology, Neurology, Fetal medicine and other specialized sectors.