CMA Test (NBS) is the baby’s first test that

• chevron_rightChromosomal microarray analysis (CMA) is a high resolution, whole-genome screening technique that can identify most of the chromosomal imbalances detected by conventional cytogenetic analysis, as well as smaller sub-microscopic deletions and duplications that are referred to as copy-number variants (CNVs).
• chevron_rightCNVs may cause a wide range of human disorders, including neurodevelopmental disorders and congenital anomalies such as cardiac defects. karyotyping.
• chevron_rightCMA is recommended as the first-tier test in the postnatal evaluation of congenital abnormalities and neurodevelopmental disorders.

Prenatal

CMA is offered prenatally if one or more of the below indications are presentb>

• chevron_rightAbnormal fetal ultrasound
• chevron_rightAbnormal NIPT results indicated an increased risk of a chromosomally
• chevron_rightabnormal fetus
• chevron_rightAbnormal high-risk maternal serum screen
• chevron_rightThe parents have a known chromosomal rearrangement, mosaicism or
• chevron_rightprevious aneuploidies
• chevron_rightThe parents have had previous live births or stillbirths with chromosomal abnormalities
• chevron_rightFetal congenital abnormalities detected with ultrasound or MRI that indicate a significant risk of an unbalanced chromosomal abnormality
• chevron_rightApparently balanced inherited rearrangements in a fetus with congenital abnormalities.
• chevron_rightApparently balanced de novo rearrangements identified by G-band analysis (karyotype)
• chevron_rightHigh risk pregnancies

The CMA can be used in cases where other tests have failed to yield a diagnosis specifically if one or more of the below symptoms or conditions are present

• chevron_rightUnexplained seizure disorder
• chevron_rightGrowth delay
• chevron_rightPsychiatric illness
• chevron_rightNeuromuscular conditions
• chevron_rightNeurodevelopmental conditions
• chevron_rightSkeletal dysplasia
• chevron_rightShort stature
• chevron_rightExcessive growth
• chevron_rightMicrocephaly
• chevron_rightMacrocephaly