Juvenile-HD

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Understanding Behaviour in HD-Dr. Jane Paulsen
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Westphal Variant
SECTION 1 - AT RISK
Age & Probability Chart
At Risk For HD-What Next?
At-Risk Checklist
Best Interest of Child?
Crystal Ball?
Food For Thought
Parent Hasn't Tested?
Q&A On Risk of Inheriting JHD
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SECTION 2 - GENETIC TESTING
Genetic Disorders & Birth Defects
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Intro: Genetics/Genetic Testing
Prenatal & Preimplanation
Prenatal Testing-In General
o Genetic Testing Resources
o Personal Stories
SECTION 3 - JHD
Coping With The Early Years
Age of HD Appearance
Age of Onset-Historical
Family-HD Underestimated
Children of Parents With HD
Child~Parent Ill
Clinical Description JHD
HD - What Kids Are Saying
HD & Me
JHD-Duration of Illness
JHD-Clinical and Research
JHD Symptoms
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Talking With Children About HD
5 Stages of HD
JHD Resources
SECTION 4 - SYMPTOM RECOGNITION
Parent Resources
8 Fears of A Chronic Illness
Anxiety/Apathy/Irritability~HD
Anxiety, Fears & Phobias
Apathy-Physician's Guide
Ataxia
Attention-Perceptual/Unawareness Physician's Guide
Bed/Pressure Sores
Bed/Pressure Ulcer Guideline
Behavior Management
Bi-Polar Disorders
Botulinum toxin therapy
Bradykinesia
Caring Tips
Child Abuse-Reconizing Signs
Chorea-Physician's Guide
Chorea
Cognitive/Decision Making/Impulsivity
Cognitive-Short Tips
Contractures~Joints Locking
Dehydration-Physician's Guide
Dehydration
Delirium
Denial of HD
Depression~Physician's Guide
Depression-Understanding It
Depression-How To Help
Depression - Treatment Resistant Patient
Depression-Other Resources
-Read If Your Child Is On Antidepressant
Disgust - Impaired Recognition in HD
Dissociative disorders
Driving - Physician's Guide
Dyslexia
Dyslexia Resources
Dystonia
Dystonia/Rigidity & Spasticity Physician's Guide
Dystonia-Predominant Adult-Onset HD
Epileptic Seizures and Epilepsy
Epilepsy-Seizures~PG
-Seizures ~Special Populations
Falling~Safety
Falling - Subdural Hematoma Risk
Fevers - Unexplained
Fevers, sweating & menstural cycles in HD
GERD (Stomach)
HD Principle Treatments
Hallucinations/Psychosis~PGHD
Hand muscle reflexes in HD
Hypothalamus - A Personal Theory
Insomia ~Physician's Guide
Irritability~Temper Outburst Physician's Guide
Learning Disability
Mania/OCD~Physician's Guide
Mood Disorder Rate In HD
Myoclonus (Movements)
Nails-What To Look For
Night Terrors
Obsessive Compulsive OCD
Panic Disorder
Personality disorders
Pneumonia
Pneumonia-Advanced Stages
Pneumonia - Aspirated (Inhaled)
Prosody - Social Impairment
Sexuality~Physician's Guide
Skins Sensitivity
Sleep Disorders
Smoking-Physician's Guide
Spasticity
Stress
Tremors
Why Certain Symptoms Occur
Symptom & Treatment Resources
SECTION 5 - COMMUNICATION
Communication Resources
Communication Problems
Communication Strategies For HD~Jeff Searle
SECTION 6 - EATING/SWALLOWING/NUITRITION
Hints For Weight Loss in HD
HD & Diet~HSA Fact Sheet 7
Nutrients: Some Possible Deficiency Symptoms
Nutrition and HD~Anna Gaba (Recipes)
Nutrition Information In HD~Naomi Lundeen
Speech & Swallowing~Lynn Rhodes
Swallowing & Nutrition Physician's Guide To HD
Swallowing & Nuitrition Resources
Swallowing Warning Signs
5 Swallowing Problems
Taste changes in HD
Weight Gain
Resources-Drinks/Shakes
-Feeding Tubes~Advanced Stages of HD
-Feeding Tube~Jean Miller
-Feeding Tubes: One More Word ~Jean Miller
-Feeding Tubes & Baby Foods
-Feeding Tube~Dental Care
-Feeding Tube Instructions~Jean Miller
-Feeding Tube Resources
SECTION 7 - THERAPIES
Finding a Therapist - Behavoir
What Is A Physiotherapist?
Physical Therapy In HD
Speech-Language Therapy
Therapy Descriptions
Therapy Resources- Easter Seal
Therapy Resources
SECTION 8 - MEDICATIONS
HD Treatments
Medications-Movement Disorders
Medication/Emergency Info Forms
Cutting Prescriptions
Drugs-Look 'Em Up
-Adolescents Under 25
-Antidepressant Adverse Effects
-Anti-psychotic
-Anxiety-Antidepressant
A-Z Mental Health Drugs
-Creatine
-EPA~Fish Oil
-Haldol/Haloperidol - Clinical Sheet
-Haldol~Clinician Description
-Haldol & HD
-Haldol/HD Patient Experiences
-Haldol~ Patient Handout
-Mood Stabilizers: ASK 3 Questions
-Neuroleptic Malignant Synd WARNING
-Olanzipine-Risperidone/blood tests
-Celexa/Luvox/Paxil/Prozac/Zoloft
-Psychiatric Drugs & Children
Sertraline ~Zoloft
-Spasticity Meds/Treatments
-SSRI Medications
-Tardive Dyskinesia WARNING
-Weight Gain Medications
-Sites/Help the Medicine Go Down
-Vitamin & Mineral Deficiencies
SECTION 9 - SURGERIES
Surgery-Movement Disorders
o Surgery Resources
SECTION 10 - PROCEDURES
Clinic Visits-How To Prepare
CT Scans, MRI's etc.
Swallowing Tests
Tests Commonly Used
o Procedures Resources
SECTION 11- ALCOHOL/DRUGS
Alcohol-Parent's Guide
Alcohol-Talking To Your Child
Drugs-What To Do?
Drugs-Talking To Your Child
Disciplining-Ages 0-13 & Up
SECTION 12- SUICIDE
Straight Talk On Suicide
Teen Suicide-You Need To Know
o Suicide Resources
SECTION 13 - DIVORCE
Divorce & Child Stress
Tips For Divorcing Parents
SECTION 14 - DISABILITY ISSUES
Guides To Disability Issues
Caring-Child & Medical Technology
Caring for a Seriously Ill Child
Child Long Term Illness
Disability-Special Education Plan
IFSP Early Intervention Process
Disability Resources
Financial Planning
Wishes Can Come True-Children's Wish Foundations
Special Needs Resources
Special Needs Camp - About
Special Needs Camp - Finding One
SECTION 15 - ASSISTIVE TECHNOLOGY
Child Assistive Technology
Adaptive Equipment Resources
Products
SECTION 16 - EMOTIONAL ISSUES
Signs of Unhealthy Self-Esteem
Emotional Behavior Links
o Emotional Support Resources
SECTION 17 - GRIEF
Helping Child Deal With Death
o Grief Addtional Resources
SECTION 18 - ADD/ADHD
ADD & Teens
Conduct Disorders
FAQS & Related Info
Understanding AD/HD
What Is AD/HD?
Research Articles
Resources
SECTION 19 - HD SUPPORT GROUPS
HD Support Groups
National Youth Association
SECTION 20 - HD LINKS
HD Links
Related Resources
Tips For Friends
SECTION 21 - BENEFITS/INSURNACE
HD Disability
Benefits Check UP - See What You Can Get
Medical Insurance Bureau's Facts On You!
Medicare-Medicaid
Medicare Rights-Home Health & Hospice
Medicare Rights Center Resources
No Insurance? Try This!
Prescription Drug Cards Part I
Prescription Drug Cards Part II
Social Security-Children With Disabilities
SECTION 22 - ARTICLES/JHD
JHD and ADD
SECTION 23 - CAREGIVING
Articles-Resources
Caregiver Self-Assessment
Caregiver's Handbook
"First Shift With A Person With HD"
Getting Respite Care/Help At Home
Helpful Forms-Info
Home Emergency Preparations
Symptom Management
Ten Tips
Useful Tools
SECTION 24 - BIO
Our Personal Experience
Coping At The End
Kelly E. Miller
Song & Verse
Letter From My Heart
GUESTBOOK
Prenatal & Preimplanation

INDEX Page

 
FAQ Sheet - Prenatal & Preimplanation Testing in HD
This information was a response to a question I asked Joyce Hammel July 24, 2000, the then HDSA - Medical & Scientific Manager.
In response to your question on pre-natal testing, I provide the following information:
 
There are several ways prospective parents can determine if their child will develop HD. The specific method of determining the embryo's genetic status depends on whether it was conceived naturally or through in vitro fertilization (IVF).
 
If the embryo was conceived naturally, parents can use prenatal testing or nondisclosing prenatal testing to determine the child's genetic status.
 
During in vitro fertilization procedures, Preimplantation Genetic Diagnosis (PGD) can be used test embryos prior to their transfer to the uterus.
 
Prenatal Testing
The prenatal procedures currently available are amniocentesis and chorionic villus sampling (CVS). Individuals or couples considering prenatal testing are advised to seek genetic counseling prior to becoming pregnant. Prenatal testing is usually requested in one of the two following circumstances:
 
1. In case I, a prospective parent has been diagnosed with HD or has been found to be a gene-carrier and will eventually develop HD. In this instance, prenatal testing can determine whether the child is at 0 or 100% risk of developing HD.
 
2. In case II, the prospective parent is at 50% risk of developing HD and is presymptomatic. This means that one of his/her parents had HD but s/he isn't showing symptoms. Prenatal testing will reveal the embryo's and the parent's genetic status.
 
The test results in this case can be overwhelmingly traumatic if both are positive for HD. Prospective parents should be counseled about possible emotional ramifications before undergoing the tests.
 
Nondisclosing Prenatal Testing
If the parent who has a 50% risk for HD does not wish to know his/her gene status but the couple wants prenatal testing, then nondisclosing prenatal testing can be performed. In this situation, the embryo is at a 25% risk of developing HD. Using linkage analysis, a procedure that compares the chromosomes of family members with that of the embryo, this test may reduce the fetus' risk from 25% to zero or increase it to 50% Couples or individuals seeking this testing option are encouraged to seek counseling and prepare for the test prior to conception.
 
Preimplantation Diagnosis
Preimplantation Genetic Diagnosis (PGD) can be used during in vitro fertilization (IVF) procedures to test embryos for HD or other genetic disorders. This allows couples or individuals that have serious genetic disorders to decrease the risk of having a child who is affected with the same problem.
 
At present, PGD is only offered in a few centers, usually under the supervision of an institutional ethics review board, but its use may become more widespread in the near future.
 
There are only a few prenatal tests for HD done each year. The centers that do these tests, especially the Genetics and In Vitro Fertilization Institute (GIVF) are experienced with preimplantation diagnosis as well as CVS and amniocentesis testing for HD. GIVF can also offer testing when knowledge of parental carrier status is not desired.
 
Please contact the following person at GIVF with additional questions about testing.
 
Lee Fallon, MS, CGC
Supervisor, Genetic Counseling
Genetics & IVF Institute
Fairfax, VA 22031
Phone: 703-698-3959
E-mail:
lee_fallon@givf.com
http://www.givf.com/

Hope that this information is helpful!
DaisyDaisyDaisyDaisyDaisyDaisyDaisyDaisyDaisyDaisy
 

Other resources:

 
A Physicians Guide to the Management of Huntington's Disease Second Edition indicates:
 

Prenatal testing for HD is possible, and should be performed in conjunction with detailed genetic counseling. Affected or at-risk individuals or couples should be informed of all of their reproductive options (shown in table 1), with the understanding that different options are appropriate or desirable
for different people.
 
For those who desire prenatal testing, the best time to make arrangements is prior to the pregnancy.  Chorionic villus sampling can be performed very early, at 8-10 weeks, and a non-disclosing prenatal
test, which determines only whether the fetus received a chromosome from the affected grandparent  or the unaffected grandparent, without determining whether the fetus or at-risk parent actually  carries the HD gene, requires samples from several individuals.
 
TABLE 1: REPRODUCTIVE OPTIONS
 

  • Natural reproduction without genetic testing
  • Prenatal testing by amniocentesis or chorionic villus sampling
  • Non-disclosing prenatal test
  • Decision not to reproduce (may include sterilization)
  • Artificial insemination
  • Adoption
  • Surrogate mother
  • Pre-implantation genetic testing and embryo selection
DaisyDaisyDaisyDaisyDaisyDaisyDaisyDaisyDaisyDaisy

Pre-natal and Vitro Fertilization for HD
Source:  NINDS
http://www.ninds.nih.gov/health_and_medical/pubs/huntington_disease-htr.htm#Age
 
Testing of a fetus (prenatal testing) presents special challenges and risks; in fact some centers do not perform genetic testing on fetuses. Because a positive test result using direct genetic testing means the at-risk parent is also a gene carrier, at-risk individuals who are considering a pregnancy are advised to seek genetic counseling prior to conception.
 
Some at-risk parents may wish to know the risk to their fetus but not their own. In this situation, parents may opt for prenatal testing using linked DNA markers rather than direct gene testing. In this case, testing does not look for the HD gene itself but instead indicates whether or not the fetus has inherited a chromosome 4 from the affected grandparent or from the unaffected grandparent on the side of the family with HD.
 
If the test shows that the fetus has inherited a chromosome 4 from the affected grandparent, the parents then learn that the fetus's risk is the same as the parent (50-50), but they learn nothing new about the parent's risk. If the test shows that the fetus has inherited a chromosome 4 from the unaffected grandparent, the risk to the fetus is very low (less than 1%) in most cases.
 
Another option open to parents is in vitro fertilization with preimplantation screening. In this procedure, embryos are screened to determine which ones carry the HD mutation. Embryos determined not to have the HD gene mutation are then implanted in the woman's uterus.
DaisyDaisyDaisyDaisyDaisyDaisyDaisyDaisyDaisyDaisy
 
New prenatal test offers quicker results  Sept. 2001
 
 

LONDON, Sept. 27 (UPI) -- Scientists in England have developed a new prenatal test that can more quickly determine whether a woman is carrying a baby with potentially life-threatening genetic abnormalities.
 
Researchers at Guy's and St. Thomas' Hospital National Health Service Trust in London report a test called quantitative fluorescence polymerase chain reaction significantly cuts down on the time patients and doctors wait for results. Although the extraction of amniotic fluid to study DNA, the genetic code for all cells, remains the same, advanced laboratory technology can produce answers to anxious parents in one or two days, compared to the current one week to two weeks it takes with standard testing.
 
The technique was tried for one year in which 1,148 amniotic fluid samples, 188 chorionic villus or fetal tissue samples and 37 other fetal tissue samples were examined.
 
Only 2 percent of the prenatal samples offered no information because the mother's cells contaminated the sample. But 98 percent did yield data on whether chromosomal abnormalities existed. Researchers in the United Kingdom could not be reached for comment. These results are reported in the Sept. 29 issue of The Lancet.
 
Separating the mother's cells from the fetus' can be painstaking. "It's like looking for a needle in a haystack," Dr. Paul G. McDonough, professor of obstetrics, gynecology, pediatrics and physiology at the Medical College of Georgia in Augusta, told United Press International. "And once you have
those cells, you've got to be sure those are of the baby" leaving scientists with very small DNA with which to work.
 
It is crucial to examine the fetus' DNA because chromosomal abnormalities could indicate disease, such as Down syndrome, and if genetic tests are performed early enough in the pregnancy, results could affect whether a pregnancy is continued or not.
 
"Because the (standard) testing takes so long and because physicians and patients want results as soon as possible...there are a lot of investigators who are looking at ways for more rapid testing,"  Dr. Michael Mennuti, professor of obstetrics and gynecology at the University of Pennsylvania in Philadelphia and secretary of the American College of Obstetricians and Gynecologists, told UPI.
 
Mennuti cautioned, however, "if the rapid test doesn't look good, are you prepared to act on the basis of that?"
 
Mennuti said this kind of quick testing would make a useful screening tool for pregnant women, but if there are problems, it should be followed up with standard prenatal tests before any decisions are made about the future of the pregnancy.
 
Still, Mennuti added, "We would be very interested in this...everybody has wanted more rapid testing. This is a step in the right direction."
 
DaisyDaisyDaisyDaisyDaisyDaisyDaisyDaisyDaisyDaisy
 
There is excellent information on Preimplantation Genetic Diagnosis for Huntington provided by Mark Hughes, MD, PhD on the MGH HD forum for anyone interested:  http://neuro-mancer.mgh.harvard.edu/ubb/Forum43/HTML/000242.html
 
Dr. Hughes answered some questions with:
 
1) The oldest baby now, who was born through PGD to avoid genetic disease is 11 years old. The oldest one born to avoid HD is now almost 6 years old.
 
2) We work with clinics all over the nation. Yes - we still do this for free. I don't know for how much longer since the donations we have received are not keeping up with the demand. But we will hold out as long as possible.
 
3) I do not think I should post the actual names of clinics on a public web site. But we work with 4 large clinics in the NYC area as well as programs all up and down the coast (and across the country).
 
Our goal is to help desperate couples who seek to have a family, by providing them the opportunity to begin their pregnancy knowing that HD is not present in their baby.
 
Rather than post clinic info here, if you are interested in hearing more about all of this, you should call our genetics program at the Universtiy at 313-993-1353 and one of the genetic counselors will talk with you about your options in the NY area.
 
DaisyDaisyDaisyDaisyDaisyDaisyDaisyDaisyDaisyDaisy
 
Other Web Sites

The American Society for Reproductive Medicine page has lots of good links and consumer information. Atlanta Reproductive Health Centres great Info 
http://www.stanford.edu/dept/GYNOB/rei/other.html
 
American Society for Reproductive Medicine: Preimplantation Genetic Diagnosis  http://www.asrm.org/
This fact sheet covers how and why clinics do preimplantation diagnosis and lists the diseases that the procedure can screen out.
 

In response to your question on pre-natal testing, I provide the following information:
 
There are several ways prospective parents can determine if their child will develop HD. The specific method of determining the embryo's genetic status depends on whether it was conceived naturally or through in vitro fertilization (IVF).
 
If the embryo was conceived naturally, parents can use prenatal testing or nondisclosing prenatal testing to determine the child's genetic status.
 
During in vitro fertilization procedures, Preimplantation Genetic Diagnosis (PGD) can be used test embryos prior to their transfer to the uterus.
 
Prenatal Testing
The prenatal procedures currently available are amniocentesis and chorionic villus sampling (CVS). Individuals or couples considering prenatal testing are advised to seek genetic counseling prior to becoming pregnant. Prenatal testing is usually requested in one of the two following circumstances:
 
1. In case I, a prospective parent has been diagnosed with HD or has been found to be a gene-carrier and will eventually develop HD. In this instance, prenatal testing can determine whether the child is at 0 or 100% risk of developing HD.
 
2. In case II, the prospective parent is at 50% risk of developing HD and is presymptomatic. This means that one of his/her parents had HD but s/he isn't showing symptoms. Prenatal testing will reveal the embryo's and the parent's genetic status. The test results in this case can be overwhelmingly traumatic if both are positive for HD. Prospective parents should be counseled about possible emotional ramifications before undergoing the tests.
 
Nondisclosing Prenatal Testing
If the parent who has a 50% risk for HD does not wish to know his/her gene status but the couple wants prenatal testing, then nondisclosing prenatal testing can be performed. In this situation, the embryo is at a 25% risk of developing HD. Using linkage analysis, a procedure that compares the chromosomes of family members with that of the embryo, this test may reduce the fetus' risk from 25% to zero or increase it to 50% Couples or individuals seeking this testing option are encouraged to seek counseling and prepare for the test prior to conception.
 
Preimplantation Diagnosis
Preimplantation Genetic Diagnosis (PGD) can be used during in vitro fertilization (IVF) procedures to test embryos for HD or other genetic disorders. This allows couples or individuals that have serious genetic disorders to decrease the risk of having a child who is affected with the same problem.
 
At present, PGD is only offered in a few centers, usually under the supervision of an institutional ethics review board, but its use may become more widespread in the near future.
 
There are only a few prenatal tests for HD done each year. The centers that do these tests, especially the Genetics and In Vitro Fertilization Institute (GIVF) are experienced with preimplantation diagnosis as well as CVS and amniocentesis testing for HD. GIVF can also offer testing when knowledge of parental carrier status is not desired.
 
Please contact the following person at GIVF with additional questions about testing.
 
Lee Fallon, MS, CGC
Supervisor, Genetic Counseling
Genetics & IVF Institute
Fairfax, VA 22031
T: 703-698-3959
E-mail:
lee_fallon@givf.com
http://www.givf.com/
 

Hope that this information is helpful!
DaisyDaisyDaisyDaisyDaisyDaisyDaisyDaisyDaisyDaisy
 
Other resources:
 
A Physicians Guide to the Management of Huntington's Disease   Second Edition indicates:
 
Prenatal testing for HD is possible, and should be performed in conjunction with detailed genetic counseling. Affected or at-risk individuals or couples should be informed of all of their reproductive options (shown in table 1), with the understanding that different options are appropriate or desirable for different people.
 
For those who desire prenatal testing, the best time to make arrangements is prior to the pregnancy.  Chorionic villus sampling can be performed very early, at 8-10 weeks, and a non-disclosing prenatal  test, which determines only whether the fetus received a chromosome from the affected grandparent  or the unaffected grandparent, without determining whether the fetus or at-risk parent actually  carries the HD gene, requires samples from several individuals.
 
TABLE 1: REPRODUCTIVE OPTIONS
 
Natural reproduction without genetic testing
Prenatal testing by amniocentesis or chorionic villus sampling
Non-disclosing prenatal test
Decision not to reproduce (may include sterilization)
Artificial insemination
Adoption
Surrogate mother
Pre-implantation genetic testing and embryo selection
===============================================================
Pre-natal and Vitro Fertilization for HD
Source:  NINDS
http://www.ninds.nih.gov/health_and_medical/pubs/huntington_disease-htr.htm#Age
 
Testing of a fetus (prenatal testing) presents special challenges and risks; in fact some centers do not perform genetic testing on fetuses. Because a positive test result using direct genetic testing means the at-risk parent is also a gene carrier, at-risk individuals who are considering a pregnancy are advised to seek genetic counseling prior to conception.
 
Some at-risk parents may wish to know the risk to their fetus but not their own. In this situation, parents may opt for prenatal testing using linked DNA markers rather than direct gene testing. In this case, testing does not look for the HD gene itself but instead indicates whether or not the fetus has inherited a chromosome 4 from the affected grandparent or from the unaffected grandparent on the side of the family with HD. If the test shows that the fetus has inherited a chromosome 4 from the affected grandparent, the parents then learn that the fetus's risk is the same as the parent (50-50), but they learn nothing new about the parent's risk. If the test shows that the fetus has inherited a chromosome 4 from the unaffected grandparent, the risk to the fetus is very low (less than 1%) in most cases.
 
Another option open to parents is in vitro fertilization with preimplantation screening. In this procedure, embryos are screened to determine which ones carry the HD mutation. Embryos determined not to have the HD gene mutation are then implanted in the woman's uterus.
===============================================
 
New prenatal test offers quicker results  Sept. 2001
 

LONDON, Sept. 27 (UPI) -- Scientists in England have developed a new prenatal test that can more quickly determine whether a woman is carrying a baby with potentially life-threatening genetic abnormalities.
 
Researchers at Guy's and St. Thomas' Hospital National Health Service Trust in London report a test called quantitative fluorescence polymerase chain reaction significantly cuts down on the time patients and doctors wait for results. Although the extraction of amniotic fluid to study DNA, the genetic code for all cells, remains the same, advanced laboratory technology can produce answers to anxious parents in one or two days, compared to the current one week to two weeks it takes with standard testing.
 
The technique was tried for one year in which 1,148 amniotic fluid samples, 188 chorionic villus or fetal tissue samples and 37 other fetal tissue samples were examined.
 
Only 2 percent of the prenatal samples offered no information because the mother's cells contaminated the sample. But 98 percent did yield data on whether chromosomal abnormalities existed. Researchers in the United Kingdom could not be reached for comment. These results are reported in the Sept. 29 issue of The Lancet.
 
Separating the mother's cells from the fetus' can be painstaking. "It's like looking for a needle in a haystack," Dr. Paul G. McDonough, professor of obstetrics, gynecology, pediatrics and physiology at the Medical College of Georgia in Augusta, told United Press International. "And once you have
those cells, you've got to be sure those are of the baby" leaving scientists with very small DNA with which to work.
 
It is crucial to examine the fetus' DNA because chromosomal abnormalities could indicate disease, such as Down syndrome, and if genetic tests are performed early enough in the pregnancy, results could affect whether a pregnancy is continued or not.
 
"Because the (standard) testing takes so long and because physicians and patients want results as soon as possible...there are a lot of investigators who are looking at ways for more rapid testing,"  Dr. Michael Mennuti, professor of obstetrics and gynecology at the University of Pennsylvania in Philadelphia and secretary of the American College of Obstetricians and Gynecologists, told UPI.
 
Mennuti cautioned, however, "if the rapid test doesn't look good, are you prepared to act on the basis of that?"
 
Mennuti said this kind of quick testing would make a useful screening tool for pregnant women, but if there are problems, it should be followed up with standard prenatal tests before any decisions are made about the future of the pregnancy.
 
Still, Mennuti added, "We would be very interested in this...everybody has wanted more rapid testing. This is a step in the right direction."
 
=============================================
 
There is excellent information on Preimplantation Genetic Diagnosis for Huntington provided by Mark Hughes, MD, PhD on the MGH HD forum for anyone interested:  http://neuro-mancer.mgh.harvard.edu/ubb/Forum43/HTML/000242.html
 
Dr. Hughes answered some questions with:
 
1) The oldest baby now, who was born through PGD to avoid genetic disease is 11 years old. The oldest one born to avoid HD is now almost 6 years old.
 
2) We work with clinics all over the nation. Yes - we still do this for free. I don't know for how much longer since the donations we have received are not keeping up with the demand. But we will hold out as long as possible.
 
3) I do not think I should post the actual names of clinics on a public web site. But we work with 4 large clinics in the NYC area as well as programs all up and down the coast (and across the country).
 
Our goal is to help desperate couples who seek to have a family, by providing them the opportunity to begin their pregnancy knowing that HD is not present in their baby.
 
Rather than post clinic info here, if you are interested in hearing more about all of this, you should call our genetics program at the Universtiy at 313-993-1353 and one of the genetic counselors will talk with you about your options in the NY area.
 
=============================================
 
Other Web Sites

The American Society for Reproductive Medicine page has lots of good links and consumer information. Atlanta Reproductive Health Centres great Info
http://www.stanford.edu/dept/GYNOB/rei/other.html
 
American Society for Reproductive Medicine: Preimplantation Genetic Diagnosis http://www.asrm.org/
This fact sheet covers how and why clinics do preimplantation diagnosis and lists the diseases that the procedure can screen out.