Paediatric Genetics

Department of Paediatric genetics at MIMS Kannur provides comprehensive medical care to children affected with various genetic disorders. We also provide counseling sessions for the parents regarding the recurrence risk in subsequent pregnancies & offer prenatal diagnosis.

We do provide detail clinical evaluation & management services for chromosomal abnormalities, microdeletion syndrome, single gene disorders, skeletal dysplasia, storage disorders, neuro degenerative disorders, Intellectual disability & learning disorders, Inborn errors of metabolism childhood deafness & blindness, connective tissue disorder like Marfan syndrome, Ehlers Danlos syndrome primary amenorrhea, familiar cancer.

We truly focus on antenatal services targeted to the most beneficiary group in our hospital.

• Early detection of fetal aneuploidies like down syndrome, Edward syndrome, Patau syndrome & neural tube defects by offering 1st trimester screening test & confirmatory genetic test is advised if screening tests comes as positive by doing chronic villus sampling/amniocentesis.
• Early detection of fetal anomalies by offering target anomaly scan & ECHO before 2nd trimester

We do offer periconceptional counseling:

• Couples having a previous child with down syndrome
• Couples where one of the parents is a translocation carrier
• Couples with history of RPL, BOH, infertility (R/C pregnancy loss, R/C abortion)
• Elderly couple’s especially maternal age > 35 years old (Advanced maternal/paternal age)
• Couples who are married in relation (consanguineous marriage
• Couples with family history of known genetic disorders

We offer Diagnostic facilities (genetic test) & post confirmatory test counseling sessions to our patients. Various diagnostic genetic tests available for confirmatory in our department are:

• Karyotype
• High resolution karyotype
• chromosomal microarray
• FISH for trisomies, sex chromosome
• FISH for microdeletion syndrome
• MLPA
• TP- PCR (triplet primed PCR)
• EXOME sequencing