We secure your option to for additional testing of chromosomal disorders.
Down Syndrome is a chromosomal disorder caused by the presence of an extra copy of chromosome 21. It leads to lifelong intellectual disability and developmental delays with varying degrees of severity. In addition to cognitive challenges, individuals with Down Syndrome may experience congenital heart defects, gastrointestinal abnormalities, thyroid disorders, and an increased risk of respiratory infections. Other medical concerns can include compromised immune function, blood disorders such as leukemia, and neurological conditions like epilepsy or early-onset Alzheimer’s disease.
Edwards Syndrome
Trisomy 18
Edwards Syndrome is a chromosomal disorder caused by the presence of an extra copy of chromosome 18. This condition leads to severe developmental delays and multiple structural abnormalities affecting various organ systems. Infants with Trisomy 18 often have congenital heart defects, kidney malformations, and gastrointestinal complications. Other common medical issues include microcephaly, cleft lip or palate, clenched fists with overlapping fingers, and severe growth restriction. Many affected infants also experience respiratory difficulties and a weakened immune system, increasing susceptibility to infections. Due to the complexity of these medical challenges, Trisomy 18 is often life-limiting, with most cases resulting in stillbirth or passing within the first year of life.
Patau Syndrome
Trisomy 13
Patau Syndrome is a chromosomal disorder caused by the presence of an extra copy of chromosome 13. This condition results in severe congenital abnormalities, including neurological defects, heart malformations, and facial and limb abnormalities. Common medical complications include holoprosencephaly (incomplete brain division), congenital heart defects, cleft lip and palate, kidney abnormalities, and extra fingers or toes (polydactyly). Many infants also experience significant breathing difficulties, seizures, and profound developmental impairment. Due to the severity of these medical challenges, Patau Syndrome is often life-limiting, with a high rate of miscarriage and stillbirth. Most male fetuses do not survive to birth, and those born alive typically have a very short life expectancy, with many passing within the first days or weeks.
Spina Bifida
Spina Bifida is a neural tube defect that occurs when the spinal column fails to close properly during early fetal development. This condition leads to varying degrees of spinal cord and vertebral abnormalities, depending on the severity and location of the defect. The most severe form, myelomeningocele, results in an exposed spinal cord, leading to significant neurological impairments such as paralysis, bladder and bowel dysfunction, and hydrocephalus (fluid buildup in the brain). Meningocele, a milder form, involves a fluid-filled sac protruding through the spine without affecting the spinal cord, while spina bifida occulta is the least severe and may cause minimal or no symptoms. The exact cause is not fully understood, but folic acid deficiency during pregnancy is a known risk factor.
Abdominal Wall Defects
Abdominal Wall Defects are congenital conditions in which the abdominal organs develop outside the fetal body due to improper closure of the abdominal wall during early pregnancy. The severity of these defects varies, and complications may include feeding difficulties, infections, and bowel function issues.
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