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Genetics and Birth Defects

January 24th, 2010

New Blood Test Could Tell Baby's Gender As Early As Seven Weeks

Parents-to-be everywhere may have another reason to jump for joy. A new, highly accurate blood test may be able to tell you the sex of your baby earlier in your pregnancy.

Photo by: Jason Tinder, Flikr, Creative CommonsMost couples have to wait until the second trimester of pregnancy (4-6 months), but the simple test could cut that time in half—as early as seven weeks. The test is highly accurate, too. Of the 201 women who were tested between 2003 and 2009, researchers were able to obtain sufficient samples from 189 and produce 100 percent accurate results.

When a woman is pregnant, her body will circulate her blood with blood from the fetus. For this test, a sample of the mother’s blood is screened for genes unique to the Y-chromosome of males. If these genes were present, researchers predicted a boy.

Early testing can also help doctors detect conditions such as Down’s syndrome and Rhesus-D disease (RhD). This method of testing has several advantages over invasive methods, such as fetal blood sampling (FBS), that can cause amniotic fluid leaking or miscarriage.

RhD sometimes results from a blood incompatibility between, for example, an Rh-positive mother and an Rh-negative child. If the mother’s body detects this difference, it may send antibodies against the baby. If it goes untreated, it can lead to jaundice, anemia, brain damage or stillbirth.

 “Noninvasive prenatal diagnosis of fetal Rhesus D genotype is sensitive and accurate and has been widely validated in Europe,” authors noted. “The United States should begin to undertake clinical trials to bring this technology to patient care as soon as possible.”

This test is currently not available to the general public, but continued success could mean it’s on the horizon. Its adoption into general health practices could help cut the risk of fetal complications of RhD.

The study was published in Obstetrics&Gynecology.

August 7th, 2009

NCI Study Links Blood Type and Pancreatic Cancer

A recent study by the National Cancer Institute shows that a patient’s blood type may increase his or her risk of developing pancreatic cancer.

Photo by: Ghutchis, Flickr, Creative CommonsPancreatic cancer is a rare form of the disease, accounting for an average of only 29,000 diagnoses in the United States every year. There are more than 42,000 estimated cases this year alone. Pancreatic cancer is difficult to detect, especially in early stages, and spreads quickly. Symptoms include jaundice, abdominal pain, bowel obstruction, and weight loss (because the pancreas is unable to properly metabolize sugar).

Blood type is determined by the ABO gene, found on a region of the 9th chromosome (typically referred to as “region 9”). Glycoproteins are produced in different combinations to determine an individual’s blood type—either A, B, AB, or O. Blood type dictates how sugars are placed on the cell’s surface. In pancreatic tumor cells, this transference is different.

Although it is relatively rare, pancreatic cancer is extremely life threatening because many people are not diagnosed until after it has already spread. Risk is greater for male smokers over the age of 60 with a family history of the disease.  According to Pancreatic Cancer Action Network (PanCAN), it is the fourth leading cause of cancer death in the United States, and fewer than 5% of patients survive five years following diagnosis.

The relationship between blood type and pancreatic cancer was first suggested more than half a century ago when research in the 50s and 60s yielded similar results. The results of the study come from Nurses' Health Study and Health Professionals Follow-up Study, associated a 17% greater risk for pancreatic cancer for patients with non-O blood types.

The Pancreatic Cancer Cohort Consortium, an organization of 12 academic medical centers, conducted the study with the help of the National Cancer Institute. Researchers followed 4,353 individuals with pancreatic cancer and 4,593 without, using whole-genome scans to detect similar genetic patterns that may be related to the disease.

“As more variants are discovered and follow-up studies are conducted to examine the biological effects of these variants,” says co-author Stephen J. Chanock, M.D., chief of NCI’s Laboratory of Translational Genomics in DCEG, “a better understanding will emerge of the inherited risk factors and mechanisms that lead to the development of pancreatic cancer."

Both tests showed a greater risk for patients with A and B blood types. The first of the two experiments in March, 2009, showed that blood type A had a 32% higher risk, with type AB increasing by 51% and type B increasing by 72% for risk of pancreatic cancer development.

Co-author Patricia Hartge, Sc.D., also of NCI's Division of Cancer Epidemiology and Genetics, says much more work is needed to better understand the link between blood type and pancreatic cancer: “This finding may lead to improved diagnostic and therapeutic interventions that are so desperately needed."

The study will be published in this month’s online issue of Nature Genetics. Click here to read the study’s extract, or find more information about pancreatic cancer.

Connect with others and learn more in our Pancreatic Cancer Community, or take the Healia Cancer Quiz!

January 14th, 2009

Largest Ever Study of U.S. Children’s Health Begins Enrollment this Week

The largest study ever conducted on U.S. children’s health begins enrolling participants this week in parts of New York and North Carolina. The National Institutes of Health (NIH) announced today that the long-planned National Children’s Study will begin recruiting volunteers to take part in its comprehensive study of how genes and the environment interact to affect children’s health. The study will track the health and development of more than 100,000 children from before birth until they turn 21.

The ambitious study was originally ordered by Congress in 2000, but budget issues and logistical planning delayed the NIH from beginning the study until now. Researchers want to investigate how environmental factors encountered in early life can “tip the scales” for genetically vulnerable individuals leading to disorders such as autism, asthma, and cerebral palsy, and perhaps even to diseases of adulthood like Parkinson’s disease and schizophrenia. Because of the large number of individuals enrolled, the study also has the capability to assess uncommon disorders, as well as how exposures to different environmental conditions and genetic factors may interact.

Enrollment in the study begins this week at two very different sites: the urban, industrial New York City borough of Queens, and the sparsely populated, rural area of Duplin County, N.C. In April, scientists will begin recruiting in five more locations in California, Pennsylvania, Utah, South Dakota and Minnesota.

The first locations will serve as pilot sites for the study's initial setup, with nationwide enrollment set for summer 2010. Eventually, the study will expand to include a total of 105 locations throughout the country to ensure that the data collected reflect a scientifically representative sample of the nation's diverse population.

Scientists are seeking women who are trying to get pregnant or who are already in the in the early stages of pregnancy. Study participants will be required to provide a series of samples, both biological – including urine, blood, hair, and genital swabs – and environmental – including samples of dust, water, and air from inside their homes. Pregnant moms will participate in monthly phone calls and be required to keep records of medical events, diet, and activity. After birth, their babies' health will be tracked through periodic exams and checks of their home environment in the first year of life and beyond.

However, if you live in one of the enrollment areas, the NIH urges you NOT to contact them in an attempt to become a study participant. In order to maintain scientific validity, participants must come from within narrowly defined geographic locations. Researchers are calling homes as well as enlisting the help of local prenatal care providers to recruit participants.

A listing of the exact locations of the first seven sites to enroll is available on the National Children’s Study Web site at http://www.nationalchildrensstudy.gov/about/overview/Pages/Study-Centers-Awarded-12-18-08.pdf.

For more information about health issues for children, join the Healia Health Community for child health. For more information about childhood asthma, check out the Healia Health Guide on Asthma.

 

January 8th, 2008

Decision to Have a Genetic Test Can Be Difficult for Individuals and Family

People who are more susceptible to genetic diseases because of family history are often given the option to have a genetic test, and the accompanying decision can be extremely difficult. Genetic tests are typically conducted using blood or other tissue to find genetic abnormalities. According to the National Institutes of Health (NIH), there are about 900 genetic tests available that may be indicated for various reasons:

  • Finding genetic abnormalities in the fetus
  • Finding out if individuals may carry an abnormal gene that may be passed to their children
  • Screening embryos for genetic abnormalities
  • Testing for genetic abnormalities before they cause symptoms
  • Confirming a diagnosis in a person who has signs and symptoms of disease

There are pros and cons to genetic testing. Test results can have a big impact on a person’s emotions, social relationships, finances, and health choices. A negative test result may cause a feeling of relief and elimination of the need for special preventive checkups, tests, or surgeries. A positive test result can bring relief from uncertainty and allow people to make informed decisions about their future.

There is much concern about genetic discrimination. Examples of genetic discrimination include insurance companies and employers treating people differently because they have a gene alteration that increases their risk of a disease. The Health Insurance Portability and Accountability Act (HIPAA) of 1996 provides some protection for people who have employer-based health insurance.

The Act prohibits group health plans from using genetic information as a basis for denying coverage if a person does not currently have a disease. However, the Act does not prohibit employers from refusing to offer health coverage as part of their benefits, or prevent insurance companies from requesting genetic information (National Cancer Institute: Genetic Testing for BRCA1 and BRCA2: It's Your Choice).

Genetic testing requires a blood, hair, skin, or other tissue sample depending on what type of abnormality your physician is looking for. The sample is then sent to a specialized lab for analysis. It is important to discuss your situation with family, friends, genetic counselor, and physician before making a final decision. To search for more information regarding genetic testing, visit healia.com.

January 8th, 2008

Folic Acid Awareness Important for Women of Childbearing Age

This week is Folic Acid Awareness Week and women of childbearing age should be particularly aware of the benefits of folic acid. The Week is sponsored by the National Council on Folic Acid (NCFA), a partnership of national and state organizations and government agencies charged to improve health by promoting the benefits of folic acid.

Folic acid is a B-vitamin necessary for proper cell growth. If taken before and during early pregnancy, folic acid can prevent from 50% up to 70% of some forms of birth defects called neural tube defects. According to the CDC, birth defects of a baby’s brain or spine happen in the first few weeks of pregnancy, often before a woman knows that she is pregnant.

It is possible, but difficult, to consume the recommended daily amount of folic acid in foods. In 1998, the Food and Drug Administration required the addition of folic acid into enriched breads, cereals, flours, pastas, rice, and other grain products to help increase folic acid consumption in the U.S.

Women of childbearing age should take 400 micrograms of synthetic folic acid daily, from fortified foods and/or a daily multi-vitamin, and eat a variety of foods as part of a healthy diet. According to the NCFA, the easiest way to get the recommended daily amount of folic acid is to take a multi-vitamin each day.

Additional health benefits associated with folic acid include reductions in cardiovascular disease and decreased risk of colon, cervical, and breast cancers. Folic acid may also help prevent Alzheimer’s disease and protect against Parkinson’s disease.

Folic Acid Awareness Week is January 7-13, 2008. To find more information regarding folic acid, please search healia.com.

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