Non-Invasive Prenatal Testing - NIPT

Down’s Syndrome – Trisomy 21

Down’s syndrome, also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. Down’s syndrome affects 1 in every 700 babies borned each year.

Edward’s Syndrome – Trisomy 18

Edwards’ syndrome, also known as trisomy 18, is a rare but serious condition. Edwards’ syndrome affects how long a baby may survive. It happens to 1 in every 5,000 to 6,000 live births.

Patau’s Syndrome – Trisomy 13

Patau’s syndrome is a serious rare genetic disorder caused by having an additional copy of chromosome 13 in some or all of the body’s cells. It affects 1 in every 5,000 babies borned each year.

Chromosome 1

Chromosome 1 is the largest of the 23 chromosomes. Abnormalities in chromosome 1 can cause intellectual disability, distinctive facial features, physical abnormalities, neurological and psychiatric problems, and some types of cancers, etc.

Chromosome 2

Chromosome 2 is the second largest chromosomes found in human cells. Abnormalities of chromosome 2 cause cancers, intellectual disability, behavioral problems, obesity, and skeletal abnormalities, etc.

Chromosome 3

Chromosome 3 is the third largest chromosomes in humans, which makes up around 7% of the genetic material in the whole genome. Chromosome 3 disorder causes delayed development, intellectual disability, behavioral and psychiatric disorders, and physical abnormalities.

Chromosome 4

Chromosome 4 chromosome represents around 6.5% of the DNA in the human genome and comprises nearly 1000 genes. Abnormalities in Chromosome 4 cause issues like severe intellectual disability and physical abnormalities, and cancers, etc.

Chromosome 5

Chromosome 5 represents almost 6 percent of the total DNA in cells. Some genes on chromosome 5 play important roles in the growth and division of cells. Abnormalities may result in blood disorders, cancers, etc.

Chromosome 6

Chromosome 6 is functionally associated with more than 120 major human diseases, including cancer, heart disease, infectious, immune and inflammatory disorders and mental illnesses.

Chromosome 7

Issues like slow growth, distinctive facial features, delayed development, speech and language problems, and learning disabilitiesare caused by this chromosome abnormalities.

Chromosome 8

Chromosome 8 abnormalities causes health conditions like blood-related cancers, moderate to severe intellectual disability, bone and joint malformations, etc.

Chromosome 9

Bladder cancer, a type of cancer of blood-forming cells called chronic myeloid leukemia, etc. are common issues caused by chromosome 9 abnormalities.

Chromosome 10

Distinctive facial features, growth problems, mild to moderate intellectual disability, developmental delay, genital abnormalities in males, or skeletal or heart defects, and several types of cancer are found in the association with a loss of chromosome 10.

Chromosome 11

Overgrowth, intellectual disability, birth defects and several types of cancers are caused by this chromosomal disorder.

Chromosome 12

Abnormalities involving chromosome 12 are involved in a type of blood cell cancer called PDGFRB-associated chronic eosinophilic leukemia, weak muscle tone, and some types of cancers.

Chromosome 13

Small head size (microcephaly), learning disabilities, slow growth and chromosome-13 related cancers are found associated with this chromosome abnormalities.

Chromosome 14

Intellectual disability, delayed development, brain development disruption, and some types of cancers can be caused by chromosome 14 disorder.

Chromosome 15

Sensorineural deafness, male infertility, intellectual disability, seizures, behavioral problems, autism and psychiatric disorders are associated with chromesome 15 abnormalities.

Chromosome 16

Delayed development, intellectual disability and autism spectrum disorder, the disruption of the development of blood vessels in the lungs are commone issues cased by chromosome 16 disorder.

Chromosome 17

Abnormalities in chromosome 17 can cause loss of sensation, tumor formation, abnormal muscle stiffness, etc.

Chromosome 18

Delayed development and learning disabilities, short stature, weak muscle tone (hypotonia), foot abnormalities are commonly found related to chromosome 18 disorder.

Chromosome 19

Unusually large head size (macrocephaly), tall stature, delayed development of speech and motor skills (such as sitting and walking), intellectual disability, Seizures, feeding and digestive difficulties, and eye abnormalities are common issues related to chromosome 19 abnormalities.

Chromosome 20

Chromosome 20 disorder affects the development of heart, bile ducts in the liver, the spinal column, and certain facial features

Chromosome 21

Production of abnormal, immature white blood cells, Down’s syndrome and some type of cancers are caused by the abnormal chromosome 21.

Chromosome 22

Abnormalities in chromosome 22 can cause heart defects, an opening in the roof of the mouth (a cleft palate), distinctive facial features, low calcium levels, and an increased risk of behavioral problems and mental illness such as schizophrenia; developmental delay, intellectual disability, and absent or severely delayed speech, etc.

Sex-linked chromosomes – X chromosom

The X chromosome represents 5% of the total DNA in women and about 2.5% of the total DNA in men. Mutations in the X chromosomes lead to several genetic disorders like Klinefelter syndrome (sexual development before birth and at puberty), Triple X syndrome (tall stature, developmental delays, learning problems), Turner syndrome (short height, failure of the ovaries to develop and heart defects), etc.

Sex-linked chromosomes – Y chromosome

This chromosomal disorder is a condition that leads to infertility, developmental and behavioral disorders, and other health problems.