Tay-Sachs disease is inherited in the autosomal recessive pattern, depicted above.
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Tay-Sachs disease

Tay-Sachs disease (abbreviated TSD, also known as "GM2 gangliosidosis") is a fatal genetic disorder, inherited in an autosomal recessive pattern, in which harmful quantities of a fatty substance called ganglioside GM2 accumulate in the nerve cells in the brain. more...

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The disease is named after the British ophthalmologist Warren Tay who first described the red spot on the retina of the eye in 1881, and the American neurologist Bernard Sachs who described the cellular changes of Tay-Sachs and noted an increased prevalence in the Eastern European Jewish population of 1887.


Infants with Tay-Sachs disease appear to develop normally for the first six months of life. Then, as nerve cells become distended with fatty material, a relentless deterioration of mental and physical abilities occurs. The child becomes blind, deaf, and unable to swallow. Muscles begin to atrophy and paralysis sets in.

A much rarer form of the disorder which occurs in patients in their twenties and early thirties is characterized by unsteadiness of gait and progressive neurological deterioration. Patients with Tay-Sachs have a "cherry-red" spot in the back of their eyes (the retina).


The condition is caused by insufficient activity of an enzyme called hexosaminidase A that catalyzes the biodegradation of acidic fatty materials known as gangliosides. Gangliosides are made and biodegraded rapidly in early life as the brain develops. Patients and carriers of Tay-Sachs disease can be identified by a simple blood test that measures hexosaminidase A activity. Both parents must be carriers in order to have an affected child. Prenatal monitoring of pregnancies is available if desired.

To expand on the genetic basis, Tay-Sachs is an autosomal recessive genetic condition: if both parents are carriers, there is a 25% risk with each pregnancy for an affected child.

The disease results from mutations on chromosome 15 in the HEXA gene encoding the alpha-subunit of the lysosomal enzyme beta-N-acetylhexosaminidase A. This enzyme is necessary for breaking down N-galactosamine from GM2 gangliosides in brain and nerve cells. More than ninety mutations have been identified in the HEXA gene. These consist of base pair insertions, base pair deletions, splice site mutations, and point mutations. All of these mutations alter the protein product. For example, a four base pair insertion in exon 11 results in an altered reading frame for the HEXA gene while a three base pair deletion eliminates the amino acid phenylalanine from the protein product at position 304. A G to C point mutation at amino acid 180 changes the codon UAC to UAG causing termination of the polypeptide. A G to A point mutation at amino acid 170 changes the codon CGA to CAA and CGG to CAG which produces glutamine instead of arginine. A G to C mutation in the splice site of intron 12 has also been identified. This mutation creates a recognition site for the restriction enzyme Ddel resulting in abnormal splicing and the production of aberrant mRNA species.

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Chorionic villus sampling
From Gale Encyclopedia of Medicine, 4/6/01 by Belinda M. Rowland


Chorionic villus sampling (CVS), also known as chorionic villus biopsy, is a prenatal test that can detect genetic and chromosomal abnormalities of an unborn baby.


Chorionic villus sampling is performed on pregnant women who are at risk for carrying a fetus with a genetic or chromosomal defect. Although it carries a slightly higher risk, CVS may be used in place of amniocentesis for women who have one or more of the following risk factors:

  • Women age 35 and older. The chance of having a child with Down syndrome increases with maternal age. For instance, the chance of having a baby with Down syndrome is 1 in 378 for a 35 year old woman and increases to 1 in 30 for a 45 year old woman.
  • A history of miscarriages or children born with birth defects.
  • A family history of genetic disease. Prenatal genetic testing is recommended if either the mother or father of the unborn baby has a family history of genetic disease or is known to be a carrier of a genetic disease.


Chorionic villus sampling is not recommended for women who have vaginal bleeding or spotting during the pregnancy. It is not typically recommended for women who have Rh sensitization from a previous pregnancy.


Chorionic villus sampling has been in use since the 1980s. This prenatal testing procedure involves taking a sample of the chorion frondosum--that part of the chorionic membrane containing the villi--for laboratory analysis. The chorionic membrane is the outer sac which surrounds the developing fetus. Chorionic villi are microscopic, finger-like projections that emerge from the chorionic membrane and eventually form the placenta. The cells that make up the chorionic villi are of fetal origin so laboratory analysis can identify any genetic, chromosomal, or biochemical diseases of the fetus.

Chorionic villus sampling is best performed between 10 and 12 weeks of pregnancy. The procedure is performed either through the vagina and the cervix (transcervically) or through the abdomen (transabdominally) depending upon the preferences of the patient or the doctor. In some cases, the location of the placenta dictates which method the doctor uses. Both methods are equally safe and effective. Following the preparation time, both procedures take only about five minutes. Women undergoing chorionic villus sampling may experience no pain at all or feel cramping or pinching. Occasionally, a second sampling procedure must be performed if insufficient villus material was obtained.

For the transcervical procedure, the woman lies on an examining table on her back with her feet in stirrups. The woman's vaginal area is thoroughly cleansed with an antiseptic, a sterile speculum is inserted into her vagina and opened, and the cervix is cleansed with an antiseptic. Using ultrasound (a device which uses sound waves to visualize internal organs) as a guide, the doctor inserts a thin, plastic tube called a catheter through the cervix and into the uterus. The passage of the catheter through the cervix may cause cramping. The doctor carefully watches the image produced by the ultrasound and advances the catheter to the chorionic villi. By applying suction from the syringe attached to the other end of the catheter, a small sample of the chorionic villi are obtained. A cramping or pinching feeling may be felt as the sample is being taken. The catheter is then easily withdrawn.

For the transabdominal method, the woman lies on her back on an examining table. Ultrasound enables the doctor to locate the placenta. The specific area on the woman's abdomen is cleansed thoroughly with an antiseptic and a local anesthetic may be injected to numb the area. With ultrasound guidance, a long needle is inserted through the woman's abdominal wall, through the uterine wall and to the chorionic villi. The sample is obtained by applying suction from the syringe.

The chorionic villus sample is immediately placed a into nutrient medium and sent to the laboratory. At the laboratory, the sample is examined under the microscope and any contaminating cells or material is carefully removed. The villi can be analyzed immediately, or incubated for a day or more to allow for cell division. The cells are stopped in the midst of cell division and spread onto a microscope slide. Cells with clearly separated chromosomes are photographed so that the type and number of chromosomes can be analyzed. Chromosomes are strings of DNA which have been tightly compressed. Humans have 23 pairs of chromosomes including the sex chromosomes. Rearrangements of the chromosomes or the presence of additional or fewer chromosomes can be identified by examination of the photograph. Down syndrome, for instance, is caused by an extra copy of chromosome 21. In addition to the chromosomal analysis, specialized tests can be performed as needed to look for specific diseases such as Tay-Sachs disease. Depending upon which tests are performed, results may be available as early as two days or up to eight days after the procedure.

Chorionic villus sampling costs between $1,200 and $1,800. Insurance coverage for this test may vary.

Alternate procedures

There are alternate procedures for diagnosing genetic and chromosomal disorders of the fetus. Amniocentesis is commonly used and involves inserting a needle through the pregnant woman's abdomen to obtain a sample of amniotic fluid. Amniocentesis is usually performed in the second trimester at approximately 16 weeks gestation and the laboratory analysis may take two to three weeks. The two advantages of chorionic villus sampling are that it is performed during the first trimester and the results are available in about one week. However, as of 1997, amniocentesis is being performed in the first trimester, but this is still very rare. The risk of miscarriage after amniocentesis is 0.5-1% (one to two women out of 200) which is lower than that for chorionic villus sampling (1-3%).

A noninvasive alternative is the maternal blood test called triple marker screening or multiple marker screening. A sample of the pregnant woman's blood is analyzed for three different markers: alphafetoprotein (AFP), human chorionic gonadotropin, and unconjugated estriol. The levels of these three markers in the mothers blood can identify unborn babies who are at risk for certain genetic or chromosomal defects. This is a screening test which determines the chance that the fetus has the defect, but it can not diagnose defects. A negative test result does not necessarily mean the unborn baby does not have a birth defect. For instance, this screening test can only predict 60-70% of the fetuses with Down syndrome. Pregnant women who have a positive triple marker screen are encouraged to undergo a diagnostic test, such as amniocentesis (by the time an AFP is done, it is too late to perform a CVS).


Prior to the chorionic villus sampling procedure the woman needs to drink fluids and refrain from urinating to ensure her bladder is full. These preparations create a better ultrasound picture.


It is generally recommended that women undergoing chorionic villus sampling have someone drive them home and have no plans for the rest of the day. Women with Rh negative blood must receive a Rho (D) immune globulin injection following the procedure. Women should call their doctor if they experience excessive bleeding, vaginal discharge, fever, or abdominal pain after the procedure.


Of women who undergo transcervical chorionic villus sampling, one third experience minimal vaginal spotting and 7-10% experience vaginal bleeding. One out of five women experience cramping following the procedure. Two to three women out of 100 (or 2-3%) will miscarry following chorionic villus sampling. The risk of infection is very low. Rupture of the amniotic membranes is a rare complication. Women with Rh negative blood may be at an increased risk for developing Rh incompatibility following chorionic villus sampling.

There have been reports of limb defects in babies following chorionic villus sampling. However, in 1996 the World Health Organization reported that the incidence of babies born with limb defects from 138,966 women who had undergone chorionic villus sampling was the same as for women who had not. Therefore, this study found no connection between chorionic villus sampling and limb defects.

Normal results

No genetic, chromosomal, or biochemical abnormalities were found in the fetal cells. The gender of the fetus will be identified but will be made known to the parents only with their approval.

Abnormal results

Analysis of the cells from the chorionic villus enables the detection of over 200 diseases and disorders such as Down Syndrome, Tay-Sachs disease, and cystic fibrosis. Gross rearrangements of the chromosomes and chromosome additions or losses are detected.

Key Terms

Chorionic villi
Microscopic, finger-like projections that emerge from the outer sac which surrounds the developing baby. Chorionic villi are of fetal origin and eventually form the placenta.
Human cells carry DNA in tightly compressed rod-like structures called chromosomes. Humans have 23 pairs of chromosomes including the sex chromosomes.
Down syndrome
A chromosomal disorder caused by an extra copy or a rearrangement of chromosome 21. Children with Down syndrome have varying degrees of mental retardation and may have heart defects.
Term for an unborn baby after the eighth week of pregnancy. Prior to seven weeks, it is called an embryo.
Rh sensitization
A woman with a negative blood type (Rh negative) who has produced antibodies against her fetus with a positive blood type (Rh positive). The mother's body considered the fetal blood cells a foreign object and mounted an immune attack on it.

A safe, painless procedure which uses sound waves to visualize internal organs. A wand that transmits and receives the sound waves is moved over the woman's abdomen and internal organs can be seen on a video screen.

Further Reading

For Your Information


  • Eisenberg, E., et. al. What to Expect When You're Expecting. New York : Workman Publishing, 1996.


  • Froster, U.G., et. al. "Limb Defects and Chorionic Villus Sampling: Results from an International Registry, 1992-94." Lancet 347 (1996): 489-94.
  • Sundberg, K., et. al. "Randomised Study of Risk of Fetal Loss Related to Early Amniocentesis Versus Chorionic Villus Sampling." Lancet 350 (1997) : 697-703.


  • March of Dimes Birth Defects Foundation. PO Box 1657, Wilkes-Barre, PA 18703. (800)367-6630. http://www.modimes.org.


  • Family Internet. http://www.familyinternet.com/mhc/top/003406.htm.

Gale Encyclopedia of Medicine. Gale Research, 1999.

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