Chromosomal Microarray Analysis has a variety of applications in the diagnosis of genetic disorders. Here are the indications for Chromosomal Microarray Analysis and Reasons for Referral:
Prenatal Diagnosis, Fetal Medicine, Gynecology:- Fetal abnormalities discovered through ultrasound scan
- Ultrasound abnormality
- Abnormal maternal serum screen
- Still birth
- Miscarriage or Spontaneous abortion
- Family history of a genetic disease detected by CMA
The American College of Obstetricians and Gynecologists (The College) and the Society for Maternal-Fetal Medicine (SMFM) have recommended Chromosomal Microarray Analysis (CMA) as the first-line genetic test in pregnancies showing fetal abnormalities in an ultrasound scan.
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- Mental retardation
- Developmental delay
- Multiple congenital anomalies
- Suspicion of genomic imbalance
- Autism spectrum disorders
- Growth delay
- Speech delay
- Developmental delay
- Dysmorphic features
- Congenital Anomalies
- Heart Defects
- Seizures
- Hematological malignancies
- Solid Tumors: Renal cell carcinomas
- Precise determination of the breakpoints of genomic alterations detected with conventional cytogenetic methods such as karyotype analysis or FISH
- Suspected whole gene deletion in Mendelian disorders
