Non-Invasive Prenatal Testing
Analyzes cell-free fetal DNA circulating in maternal blood, screening for aneploidies of chromosomes 21 (Down syndrome), 18 (Edwards syndrome) and 13 (Patau syndrome). In addition, our test screens for sex chromosome aneploidies and several micro deletions in singleton pregnancies. In twin pregnancies, screening for aneploidies of chromosomes 21 (Down syndrome), 18 (Edwards syndrome) and 13 (Patau syndrome), with the option to screen for the absence of the Y chromosome.
Cystic fibrosis is one of the most common genetic disorders in children in the United States and Canada. It’s caused by the presence of mutations in the gene for the CFTR protein. The mutated gene is passed down in families in a autosomal recessive manner. To pass on this disease, both parents must be carriers of the mutated gene. Cystic fibrosis is a genetic disease that causes mucus in the body to become thick and sticky. This glue-like mucus builds up and causes problems in many of the body’s organs, especially the lungs and the pancreas. People who have cystic fibrosis can have serious breathing problems and lung disease. They can also have problems with nutrition, digestion, and growth. The disease generally progresses over time.
A sickle cell test is a test done to check for sickle cell trait or sickle cell disease. Sickle cell disease is an inherited blood disease that causes red blood cells to be deformed (sickle-shaped) Sickled blood cells are destroyed by the body faster than normal blood cells, which leads to anemia. Also, sickled cells can get trapped in blood vessels and reduce or block blood flow. This can damage organs, muscles and bones and may lead to life-threatening conditions.
Ashkenazi Jewish Screen
Ashkenazi Jewish genetic diseases are a group of rare disorders that occur more often in people of Eastern European (Ashkenazi) Jewish heritage than in the general population. Even though most of these diseases are severe and can cause early death, some can be treated to reduce symptoms and prolong life.
The test for Tay-Sachs disease measures the amount of an enzyme called hexosaminidase A (hex A) in the blood. Hex A breaks down fatty substances in the brain and nerves. Tay-Sachs is an inherited disease in which the body can’t break down fatty substances as it should, leading to fatty substances collecting in the nerve cells of the brain resulting in damage to them.
Fragile X syndrome is caused by an abnormality (mutation) in the FMR1 gene. Affected individuals have an increased number of copies of a portion of the gene called CGG repeats. The greater the number of copies of CGG, the more likely there will be increased severity of the disorder. Fragile X syndrome occurs more often in males and results in more severe disease in males. Fragile X syndrome is characterized by moderate intellectual disability in affected males and mild intellectual disability in affected females.
Spinal Muscular Atrophy (SMA)
Spinal muscular atrophy (SMA) is a group of inherited disorders characterized by a loss of certain nerve cells in the spinal cord called motor neurons or anterior horn cells. Motor neurons receive the nerve impulses transmitted from the brain to the spinal cord (brainstem) and, in turn, transmit the impulses to the muscle via the peripheral nerves. The loss of motor neurons leads to progressive muscle weakness and muscle wasting (atrophy) in muscles closest to the trunk of the body (proximal muscles) such as the shoulders, hips and back. These muscles are necessary for crawling, walking, sitting up and head control. The more severe types of SMA can affect muscles involved in feeding, swallowing and breathing.
Our carrier screening panel looks for DNA mutations associated with over 100 diseases that can help predict the chances of having a child with a genetic disorder such as Cystic Fibrosis; Spinal Muscular Atrophy (SMA); Fragile X; Ashkenazi Jewish Screen; Tay-Sachs and many others.
Maternal Serum Screen: AFP (alpha fetoprotein)
An alpha-fetoprotein (AFP) blood test checks the level of AFP in a pregnant woman’s blood. AFP is a substance made in the liver of an unborn baby (fetus). The amount of AFP in the blood of a pregnant woman can help see whether the baby may have such problems as spina bifida and anencephaly.
Maternal Serum Screen: Quad Screen
The quad marker screen, similar to the triple marker screen, is a blood test that provides a woman and her health care provider with useful information about her pregnancy. The test predicts the likelihood of a certain problem occurring, it does not diagnose the problem. For example, cholesterol screening determines a person’s risk for heart disease based on the amount of cholesterol in the blood, but it does not necessarily mean that the person has heart disease. The quad marker screen determines if a woman is at higher or lower risk of carrying a baby with a birth defect. This means that some women with healthy babies will have screening results indicating a possible problem (and will be offered appropriate follow-up testing), while some women whose babies have birth defects will go undetected.
Micro Deletions: DiGeorge 22q11
DiGeorge syndrome, also called 22q11.2 deletion syndrome, is a disorder caused by a defect in chromosome 22. It results in the poor development of several body systems. Medical problems commonly associated with DiGeorge syndrome include heart defects, poor immune system function, a cleft palate, complications related to low levels of calcium in the blood, and delayed development with behavioral and emotional problems. The number and severity of symptoms associated with DiGeorge syndrome vary greatly. However, almost everyone with DiGeorge syndrome needs treatment from specialists in a variety of fields.
Micro Deletions: Angelman/Prader-Willi 15q11
Prader-Willi syndrome is a complex genetic condition that affects many parts of the body. In infancy, this condition is characterized by weak muscle tone (hypotonia), feeding difficulties, poor growth, and delayed development. Beginning in childhood, affected individuals develop an insatiable appetite, which leads to chronic overeating (hyperphagia) and obesity. Some people with Prader-Willi syndrome, particularly those with obesity, also develop type 2 diabetes mellitus (the most common form of diabetes).
Micro Deletions: Wolf-Hirschhorn syndrome 4p-
Wolf-Hirschhorn syndrome is an extremely rare chromosomal disorder caused by a partial deletion (monosomy) of the short arm (“p”) of chromosome 4. Major symptoms may include extremely wide-set eyes (ocular hypertelorism) with a broad or beaked nose, a small head (microcephaly), low-set malformed ears, mental and growth deficiency, heart (cardiac) defects, and seizures. Because the amount of genetic material deleted varies, the symptoms of this syndrome vary from case to case.
Micro Deletions: Cri-du-chat
Cri du chat syndrome (CdCS or 5p-) is a rare genetic disorder in which a variable portion of the short arm of chromosome 5 is missing or deleted (monosomic). Symptoms vary greatly from case to case depending upon the exact size and location of the deleted genetic material. Common symptoms include a distinctive cry that resembles the mewing of a cat, characteristic facial features, slow growth, and microcephaly, a condition that indicates that head circumference is smaller than would be expected for an infant’s age and sex. Affected children also exhibit delays in the acquisition of skills requiring the coordination of muscular and mental activities (psychomotor disability) and moderate to severe intellectual disability. Additional symptoms affecting different organ systems of the body can also occur. Most cases are thought arise from spontaneous (de novo) genetic errors very early in embryonic development.