Posts Tagged ‘genetic disorder’

Birth defects

Friday, January 17th, 2014

In recognition of National Birth Defects Prevention Month, here are 10 things you need to know about birth defects from the Centers for Disease Control and Prevention, CDC.

1. Birth defects are common.
Birth defects affect 1 in 33 babies in the United States every year. For many babies born with a birth defect, there is no family history of the condition.

2. Birth defects are costly and can greatly affect the finances not only of the families involved, but of everyone.
In the United States, birth defects have accounted for over 139,000 hospital stays during a single year, resulting in $2.6 billion in hospital costs. Families and the government share the burden of these costs. Additional costs due to lost wages or occupational limitations can affect families as well.

3. Birth defects are critical conditions.
Birth defects can be very serious, even life-threatening.  About 1 in every 5 deaths of babies before their first birthday is caused by birth defects in the United States. Babies with birth defects who survive their first year of life can have lifelong challenges, such as problems with infections, physical movement, learning, and speech.

4. Women should take folic acid during their teens and throughout their lives to help prevent birth defects.
Because half of all pregnancies in the United States are not planned, all women who can become pregnant should get 400 micrograms of folic acid every day, either by taking a vitamin each day or eating a healthy diet. Folic acid helps a baby’s brain and spine develop very early in the first month of pregnancy when a woman might not know she is pregnant.

5. Many birth defects are diagnosed after a baby leaves the hospital.
Many birth defects are not found immediately at birth, but most are found within the first year of life. A birth defect can affect how the body looks, how it works, or both. Some birth defects like cleft lip or spina bifida are easy to see. Others, like heart defects, are found using special tests, such as x-rays or echocardiography.

6. Birth defects can be diagnosed before birth.
Tests like an ultrasound and amniocentesis can detect some birth defects such as spina bifida, heart defects, or Down syndrome before a baby is born. Prenatal care and screening are important because early diagnosis allows families to make decisions and plan for the future.

7. Birth defects can be caused by many different things, not just genetics.
Most birth defects are thought to be caused by a complex mix of factors. These factors include our genes, our behaviors, and things in the environment. For some birth defects, we know the cause. But for most, we don’t. Use of cigarettes, alcohol, and other drugs; taking certain medicines; and exposure to chemicals and infectious diseases during pregnancy have been linked to birth defects. Researchers are studying the role of these factors, as well as genetics, as causes of birth defects.

8. Some birth defects can be prevented.
A woman can take some important steps before and during pregnancy to help prevent birth defects. She can take folic acid; have regular medical checkups; make sure medical conditions, such as diabetes, are under control; have tests for infectious diseases and get necessary vaccinations; and not use cigarettes, alcohol, or other drugs.

9. There is no guaranteed safe amount of alcohol or safe time to drink during pregnancy.
Fetal alcohol spectrum disorders (FASDs) are a group of conditions that can occur in a person whose mother drank alcohol during pregnancy. These effects can include physical problems and problems with behavior and learning which can last a lifetime. There is no known safe amount, no safe time, and no safe type of alcohol to drink during pregnancy. FASDs are 100% preventable if a woman does not drink alcohol while pregnant.

10. An unborn child is not always protected from the outside world.
The placenta, which attaches a baby to the mother, is not a strong barrier. When a mother uses cigarettes, alcohol, or other drugs, or is exposed to infectious diseases, her baby is exposed also. Healthy habits like taking folic acid daily and eating nutritious foods can help ensure that a child has the best chance to be born healthy.
For more information: www.cdc.gov/birthdefects.

Written By: Cynthia A. Moore, M.D., Ph.D. Director
Division of Birth Defects and Developmental Disabilities
National Center on Birth Defects and Developmental Disabilities
Centers for Disease Control and Prevention

Newborn screening and the March of Dimes

Tuesday, October 15th, 2013

newborn-screening-picture1This year, the March of Dimes and other health organizations are commemorating the 50th anniversary of newborn screening. In 1959, the March of Dimes began to explore newborn screening (NBS) as a means to detect and prevent the catastrophic consequences of metabolic conditions such as PKU (phenylketonuria) on a large scale. Subsequently, we funded research into several genetic and metabolic diseases that can be tested at birth, expanding the concept of newborn screening as an essential component of maternal/child health care delivery. We have worked tirelessly to promote expanded newborn screening programs in every state and to obtain federal guidelines for newborn screening, which has improved and saved the lives of countless thousands of affected children.

Linus Pauling (1901-1994), winner of the Nobel Prize in Chemistry in 1954, received one of the earliest basic research grants awarded by the March of Dimes. Dr. Pauling proposed the concept of molecular disease, using sickle cell anemia as a model. His finding that sickle hemoglobin differs in a measurable way from normal hemoglobin introduced the idea that heritable changes in the structure of a molecule could lead to improper function and result in disease. Dr. Pauling’s work laid the groundwork for the techniques used in newborn screening and diagnosis of sickle cell anemia.

Robert Guthrie, MD (1916-1995) was a March of Dimes grantee who developed a simple blood test to detect PKU, a cause of brain damage and intellectual disability. Dr. Guthrie refined an earlier PKU test, making it possible to analyze a dried spot of blood on filter paper instead of a liquid blood sample, an easier and inexpensive method that could be used on a mass scale. His breakthrough ushered in an era of state-mandated newborn screening programs. In 1963, Massachusetts became the first state to pass a law making the Guthrie PKU test mandatory, and New York followed soon after. The year 1963 marks the birth of state-mandated newborn screening, whose 50th anniversary we recognize this year.

The March of Dimes went on to award grants to develop inexpensive screening tests for congenital hypothyroidism, congenital adrenal hyperplasia, and biotinidase deficiency. In 1992, we called for every state to establish built-in safeguards for their newborn screening programs so that babies born with potentially catastrophic but treatable metabolic disorders would get help in a timely fashion. In 2000, we proposed a national standard for NBS and applauded an American Academy of Pediatrics review for improvements to the nation’s newborn screening programs, insisting that the primary consideration should be the health of the infant.

In 2008, Congress passed the Newborn Screening Saves Lives Act which established national guidelines on what conditions should be tested in newborn screening programs. The March of Dimes actively advocated in favor of its passage. At present, we promote 31 core conditions for newborn screening based on the U.S. Department of Health and Human Services Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children.

What causes Down syndrome?

Thursday, September 26th, 2013

Down syndrome is caused by extra genetic material from chromosome 21. Chromosomes are the structures in cells that contain the genes.

Each person normally has 23 pairs of chromosomes, or 46 in all. An individual inherits one chromosome per pair from the mother’s egg and one from the father’s sperm. When an egg and sperm join together, they normally form a fertilized egg with 46 chromosomes.

Sometimes something goes wrong before fertilization. A developing egg or sperm cell may divide incorrectly, sometimes causing an egg or sperm cell to have an extra chromosome number 21. When this cell joins with a normal egg or sperm cell, the resulting embryo has 47 chromosomes instead of 46. Down syndrome is called trisomy 21 because affected individuals have three number 21 chromosomes, instead of two. This type of error in cell division causes about 95 percent of the cases of Down syndrome.

Occasionally, before fertilization, a part of chromosome 21 breaks off during cell division and becomes attached to another chromosome in the egg or sperm cell. The resulting embryo may have what is called translocation Down syndrome. Affected individuals have two normal copies of chromosome 21, plus extra chromosome 21 material attached to another chromosome. This type of error in cell division causes about 3 to 4 percent of the cases of Down syndrome. In some cases, the parent has a rearrangement of chromosome 21, called a balanced translocation, which does not affect his or her health.

About 1 to 2 percent of individuals with Down syndrome have a form called mosaicism. In this form, the error in cell division occurs after fertilization. Affected individuals have some cells with an extra chromosome 21 and others with the normal number.

The risk of Down syndrome increases with the mother’s age. Even though the risk is greater as the mother’s age increases, about 80 percent of babies with Down syndrome are born to women under age 35. This is because younger women have more babies than older women.

To learn more about Down syndrome and the types of health problems someone with Down syndrome might have, read this article.

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.

Rare Disease Day

Thursday, February 28th, 2013

rare-disease-dayRare Disease Day is an international advocacy day to bring widespread recognition of rare diseases as a global health challenge. The day is celebrated on the last day of February every year.

In the U.S., any disease affecting fewer than 200,000 people is considered rare. This definition comes from the Orphan Drug Act of 1983 and is slightly different from the definition used in Europe. There are nearly 7,000 rare diseases affecting nearly 30 million Americans. In other words, almost one in ten Americans are suffering from rare diseases. Rare diseases include many birth defects, genetic disorders and chromosomal abnormalities.

Besides dealing with their specific medical problems, people with rare diseases struggle to get a proper diagnosis, find information, and get treatment. The rarity of their conditions makes medical research more difficult.

To learn more about rare diseases and Rare Disease Day, click on this link.

Sickle cell disease and the March of Dimes

Tuesday, February 26th, 2013

sickle cell screening, 1972Sickle cell disease is a genetic blood disorder in which round red blood cells take on a characteristic abnormal, curved “sickle” shape. African-Americans and others from tropical sub-Saharan Africa are most susceptible to this disorder, which can cause intense pain, high blood pressure, stroke, damage to vital organs, and the risk of serious infection. March of Dimes research involvement into the causes and prevention of sickle cell disease dates back to the polio era, when the chemist Linus Pauling discovered that the disease results from an abnormality in molecules of hemoglobin, which carries oxygen from the lungs to the rest of the body. Dr. Pauling’s finding that sickle hemoglobin differs in a measurable way from normal hemoglobin introduced the idea that heritable changes in the structure of a molecule could lead to improper function and result in disease. Dr. Pauling received one of the earliest basic research grants from the March of Dimes, and he was awarded the Nobel Prize in Chemistry in 1954. His work laid thegroundwork for techniques used in newborn screening and the diagnosis of sickle cell disease today.

After the March of Dimes changed its mission to birth defects prevention in 1958, sickle cell disease again came to the forefront of concern as a significant, but treatable, genetic disorder. The Foundation supported several lines of research: one was a medication that prevents red blood cells from “sickling;” another was giving daily antibiotics to affected infants and toddlers to prevent life-threatening bacterial infections; a third was bone marrow transplantation, used to cure other genetic blood disorders as well as severe sickle cell disease. The Foundation helped to establish one of the first pediatric clinics in the U.S. to care for infants and children with sickle cell disease at the Mt. Sinai Medical Center in New York City in the late 1970s. This center provided medical services, social and psychological support, genetic counseling and education needed by children with sickle cell disease as well as their families and communities. March of Dimes researchers investigated the effectiveness of innovative drug treatments and a multi-disciplinary team approach to caring for infants and children affected by the disease.

For over 50 years the March of Dimes has focused on treatment of sickle cell disease in its quest to prevent all birth defects. In 1982, March of Dimes grants led to the development of a safe and accurate prenatal test for the disease, and even today our grants support cutting-edge medical research. We hope to understand the molecular pathways of cellular development, to determine the risk factors inherent in the disease to prevent other infections, and to explore innovative gene therapies to eliminate the risks of leukemia in those affected by the disease. These are just a sampling of some of the ways we strive for “stronger, healthier babies” in our 75th anniversary year.

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.