Posts Tagged ‘genetic counseling’

Fragile X syndrome

Monday, October 21st, 2013

Fragile X syndrome is the most common inherited form of intellectual disability. It affects about 1 in 4,000 males and 1 in 6,000 to 8,000 females and occurs in all racial and ethnic groups.

Fragile X syndrome is caused by an abnormality in the FMR-1 gene located on the X chromosome.  Each person has 23 pairs of chromosomes, or 46 individual chromosomes. The pair of sex chromosomes (X and Y) determines whether a person is male or female. Females have two X chromosomes, and males have one X chromosome and one Y chromosome. Because females have two X chromosomes, a female who inherits one X chromosome with the abnormal FMR-1 gene still has the other unaffected X chromosome. Therefore, girls are affected by fragile X syndrome less frequently than boys and their symptoms are usually not as severe. Boys are usually more severely affected because they have only one X chromosome, and it contains the abnormal gene.

Fragile X is inherited and passed on through the mother’s side of the family.  Any woman who has a brother or male relative with fragile X syndrome may want to meet with a genetic counselor.  A genetic counselor can help her to better understand the complicated genetics and inheritance of fragile X syndrome.

Children and adults with fragile X syndrome may exhibit a number of signs.  These can range from mild to severe. Some common symptoms include:

• Some degree of intellectual disability or learning problems
• Behavioral problems, such as difficulty paying attention and frequent tantrums
• Autistic-like behaviors, such as hand flapping and hand biting
• Delays in learning how to sit, walk and talk
• Speech problems
• Anxiety and mood problems
• Sensitivity to light, sounds, touch and textures

Most boys with fragile X syndrome have intellectual disabilities, but only about one-third to one-half of affected girls do. However, affected girls with normal intelligence may have some of the following symptoms:

• Learning disabilities involving math
• Attention difficulties
• Speech delays
• Emotional problems, such as anxiety, depression and shyness
• Poor social skills

While most children with fragile X do not have any medical conditions, about 15% of boys and 5% of girls develop seizures.  These can usually be controlled with medication.  Children with fragile X may also be at increased risk for multiple ear infections and they may need to have tubes placed in their ears.  Older children and adults may have heart murmurs, but usually no treatment is necessary.

There is no cure for fragile X syndrome. But, an individualized treatment plan, beginning as soon as possible, can help children reach their full potential. Most children with fragile X syndrome can benefit from treatment by a team of health professionals and special educators. The team may include speech/language therapists, physical and occupational therapists, special educators, psychologists and pediatricians.

A fellowship and a double helix

Thursday, April 25th, 2013

genetic-counseling1In 1952, James Watson was an unknown scientist who applied to the March of Dimes for a fellowship proposing research on X-ray diffraction patterns of proteins and nucleic acids. Knowing that the March of Dimes funded basic science as well as polio prevention, Watson hoped that the grant he would receive might enable him to conduct a year of research and cover his lab expenses. His modest grant award of $5,678, roughly equivalent to $50,000 today, led to one of the most momentous discoveries of the age. On April 25, 1953 Watson and his colleague Francis Crick published “A Structure for Deoxyribose Nucleic Acid” in the journal Nature. The field of molecular genetics was launched. They had discovered the double-helical structure of DNA.

Much has been written about Watson and Crick’s famous discovery, for which they received the Nobel Prize in 1962. Their path-breaking research vastly expanded the field of genetics, leading to knowledge unimaginable in their day. Their accomplishment also prefigured what the March of Dimes would do next. After funding the vaccines that brought the scourge of polio to a halt, the Foundation turned to the riddle of birth defects, knowing that the keys of genetics would open further doors to this intractable problem.

By the 1960s, the March of Dimes sponsored birth defects and clinical genetics conferences to keep medical professionals up-to-date with progress in the field. We helped to develop a universal standardized language (the karyotype) to describe human chromosomes. At a March of Dimes conference in 1969, Dr. Victor McKusick proposed that science might create a molecular map of all genes. His idea sparked the March of Dimes to organize a series of human gene mapping workshops that ultimately led to the Human Genome Project of the 1990s.

Our interest in genetics goes beyond science itself to assisting individuals and families. We have developed the field of genetic counseling to help parents and parents-to-be understand the risks of inherited disorders. We helped to establish the first master’s degree program in genetic counseling at a U.S. college. In the 1980s we sponsored an educational program on Genetic Decision Making and Pastoral Care, enabling clergy from different religions to understand the complexities of genetics in order to give appropriate counseling to concerned families. At the same time, our funding of scientific research has remained fundamental. Our grantees have identified the gene for Fragile X Syndrome and have created therapies for other life-threatening disorders.

As we note the 60th anniversary of Watson and Crick’s famous article on the double helix of DNA, we look forward to a time when birth defects and premature birth have receded into the past just as polio has done. Our steadfast commitment to “stronger, healthier babies” is grounded in the building blocks of genetics that help us identify the causes of disease.

Chat on genetic counseling

Monday, March 4th, 2013

Susan Klugman, MDEver wonder if genetic counseling is for you? Join us for a #pregnancychat on genetic counseling and why it’s important. Dr. Susan Klugman, Director of Reproductive Genetics at Montefiore Medical Center, will be our guest to answer your questions, such as: What ethnic groups are more at risk for a genetic disorder? What does a family health history entail? Which prenatal tests are right for you? and more.

Dr. Klugman is a “medical detective” who works to identify the possible genetic risk factors for many inherited diseases. She encourages couples to consider genetic testing even before they get married so they can be as informed as possible when planning their families. She serves on the Board of Directors of the New York State Genetics Task Force. 

Dr. Klugman has appeared on many broadcast media outlets including ABC World News Tonight with Diane Sawyer. Take this unique opportunity to learn from her and ask questions. Join us on Twitter Wednesday, March 6th at 1 PM. Don’t forget to use #pregnancychat to make sure we see your questions.

The Military and the March of Dimes

Monday, November 12th, 2012

military-and-mod4

In its drive to promote healthy pregnancy, the March of Dimes considers every avenue of outreach. This has included cordial ties with U.S. Armed Forces in order to support military families. Historically, our earliest years coincided with the global catastrophe of World War II when our founder – President Franklin D. Roosevelt – was Commander-in-Chief of the U.S. Armed Forces. In that troubled time, our military ties were many and various. An early research grant went to Drs. John Paul and Albert Sabin to find out why American GIs in Egypt contracted polio when native populations seemed immune to the disease. The Foundation created a fund-raising unit that coordinated its annual “March of Dimes” campaigns with all branches of the military. Our Armed Forces Division was so popular that top brass such as Gen. Dwight Eisenhower and Admiral Chester Nimitz wrote enthusiastic public messages of support for our fight against polio.

After the war, the most conspicuous military program was the Military Air Transport Service (MATS). MATS was a standing agreement of the March of Dimes with the U.S. Air Force to airlift iron lung respirators to epidemic areas and even individuals with paralytic polio to hospitals for special care. In one case, MATS cargo aircraft shipped iron lungs to a polio epidemic in Japan in 1961. With the advent of the Salk polio vaccine developed with March of Dimes funds, the Foundation ensured that military personnel were protected from the polio virus. Military personnel and their families from the Pearl Harbor Naval Shipyard dispensary to the U.S. Army Hospital at West Point participated in March of Dimes polio vaccination programs.

When the March of Dimes turned toward birth defects prevention in the 1960s, our involvement with the military also turned in a new direction. We then maintained on staff an official liaison to the military as we broadened our approach to birth defects by focusing on all the determinants of healthy pregnancy. And, in our examination of the genetic causes of birth defects, we provided advice to Viet Nam era veteran groups about medical and genetic counseling for victims of Agent Orange. Our relationship to the Veterans of Foreign Wars has been mutually supportive for decades, and several March of Dimes national ambassadors have been members of military families. One of these, Cody Groce, was very proud to appear with Gen. Colin Powell at our National Youth Leadership Conference in Washington, DC in 1998. Our most recent effort in support of military families has been our involvement in Operation Shower.

In the darkest days of World War II, FDR offered these words to characterize his understanding of the March of Dimes mission: “Nothing is closer to my heart than the health of our boys and girls and young men and young women. It is one of the front lines of national defense.” With this impetus, the March of Dimes went on to defeat polio and launch a new mission against birth defects and prematurity. FDR’s original sentiment bears close resemblance to our passionate quest for “stronger, healthier babies” today.

Note on photo: Sailors in formation spell out “March of Dimes” on board aircraft carrier USS Franklin D. Roosevelt, 1962

Is genetic counseling for you?

Tuesday, January 26th, 2010

genetic-counselorAnyone who has unanswered questions about diseases or traits that run in the family should consider genetic counseling. People who may find it valuable include:
• Those who have, or are concerned that they might have, an inherited disorder or birth defect.

• Women who are pregnant or planning to be after age 35.

• Couples who already have a child with mental retardation, an inherited disorder or a birth defect.

• Couples whose infant has a genetic disease diagnosed by routine newborn screening.

• Women who have had babies who died in infancy or three or more miscarriages.

• People concerned that their jobs, lifestyles or medical history may pose a risk to outcome of pregnancy. Common causes of concern include exposure to radiation, medications, illegal drugschemicals  or infections.

• Couples who would like testing or more information about genetic conditions that occur frequently in their ethnic group.

• Couples who are first cousins or other close blood relatives.

• Pregnant women whose ultrasound examinations or blood testing indicate that their pregnancy may be at increased risk for certain complications or birth defects.

If you think you could benefit from genetic counseling, call your local chapter of the March of Dimes, or send an email to Askus@marchofdimes.org, for information on services in your area.

Storing your baby’s umbilical cord blood: Is it a good idea?

Tuesday, December 16th, 2008

You’ve probably seen those ads. The ones that say something like this, “Save your baby’s cord blood and protect her from serious illness in the future.” Should you do it? 

The December 22 issue of Newsweek has a good article on this topic. The story is called “When Medicine Meets Marketing,” and it asks an important question: “Is salesmanship outpacing science?”

Umbilical cord blood is the blood left in the cord and placenta after the baby is born and the cord is cut. It is a rich source of stem cells.

Stem cells can be used to treat some genetic disorders and certain cancers. More than 70 disorders have been treated with stem cells from cord blood. Parents can now store their newborn baby’s cord blood at private cord blood banks.

Sounds good, right? But here’s the catch. If a child does need a stem-cell transplant, his own stem cells usually are not the safest or best source of stem cells for treatment.

OK, then, “Who should store umbilical cord blood?” Families who have a history of certain genetic diseases may want to store cord blood in a private bank for their family members. Health care providers, including genetic counselors, can provide more information. 

But for the rest of us, the American Academy of Pediatrics (AAP) does not recommend storing cord blood in private banks. Storage is expensive, and the likelihood of it helping the baby is small, maybe even nonexistent.

The ads from umbilical cord blood banks are everywhere these days. But think twice before storing umbilical cord blood. Talk to your family’s health care providers first.

Here’s an alternative. The AAP and many scientists favor the storage of cord blood in public banks. It can be used to help people who urgently need blood cell transplants.

To learn more about umbilical cord blood, read the March of Dimes fact sheet.

Genetic counseling

Thursday, October 2nd, 2008

My sister discovered she was expecting her third baby shortly after her 36th birthday. She went to her first prenatal visit and immediately noticed that the nurse labeled every page in her chart with the acronym, AMA (advanced maternal age). She called me from her cell fuming as soon as she left. “Don’t you think that’s rude,” she asked. I didn’t, but then again I wasn’t the one being labeled as obstetrically-over-the-hill. At her next visit she was given a referral to see a genetic counselor. 

A genetic counselor works with a person or family that may be at risk for an inherited disease or abnormal pregnancy outcome, discussing their chances of having children who are affected. Anyone who has unanswered questions about the origins of diseases or traits in the family should consider genetic counseling. People who may find it valuable include:

  • Women who are pregnant or planning to be after age 35.
  • Those who have, or are concerned that they might have, an inherited disorder or birth defect.
  • Couples who already have a child with mental retardation, an inherited disorder or a birth defect.
  • Couples whose infant has a genetic disease diagnosed by routine newborn screening.
  • Women who have had babies who died in infancy or three or more miscarriages.
  • People concerned that their jobs, lifestyles or medical history may pose a risk to outcome of pregnancy. Common causes of concern include exposure to radiation, medications, illegal drugs, chemicals or infections.
  • Couples who would like testing or more information about genetic conditions that occur frequently in their ethnic group.
  • Couples who are first cousins or other close blood relatives.
  • Pregnant women whose ultrasound examinations or blood testing indicate that their pregnancy may be at increased risk for certain complications or birth defects.

A family can seek genetic counseling directly or be referred by a physician. Comprehensive genetic services centers are available in the United States, usually located within large medical centers or teaching hospitals. Smaller areas may be served by satellite clinics.

If you think you could benefit from genetic counseling:

  • Call your local chapter of the March of Dimes for information on services in your area.
  • Ask your physician or nearest hospital associated with a medical school
  • Contact the National Society of Genetic Counselors                                                                               
  • Locate the name of  clinic on the GeneTests Web site