Posts Tagged ‘chromosomal abnormalities’

The impact of rare diseases

Monday, February 29th, 2016

rare-disease-dayIn the U.S., any disease affecting fewer than 200,000 people is considered rare. Today, the last day of February is Rare Disease Day, an international advocacy day to spread awareness of rare diseases and their impact on patients’ lives.

There are nearly 7,000 rare diseases affecting 25 million Americans and 400 million people worldwide. At least 50% of these rare diseases affect children. Rare diseases include many birth defects, genetic disorders and chromosomal abnormalities.

A patient with a rare disease may face severe health outcomes including physical and intellectual disabilities and premature death. Often the lack of scientific knowledge and information on a rare disease can result in a delay in diagnosis. In addition, a rare disease not only affects the individual; it affects an entire family.

Rare Disease Day aims to raise awareness not only to the public, but amongst policy makers, public authorities, researchers and health professionals.  Many advancements in national plans and policies related to rare diseases has been attributed to the awareness that this day has cultivated. There is still much to do, but progress is being made every day toward the development of knowledge, research and treatment advances for rare disease patients.

Do you or someone you know have a rare disease? Feel free to share your story with us.

 

Chromosomal abnormalities

Tuesday, August 20th, 2013

chromosomes1About 1 in 150 babies in the US is born with a chromosomal condition. Babies with chromosomal conditions have a problem in one or more of their chromosomes. Chromosomes are the structures that hold genes. Genes are part of your body’s cells that store instructions for the way your body grows and works. Genes are passed from parents to children.

Each person has 23 pairs of chromosomes, 46 in all. For each pair, you get one chromosome from your mother and one chromosome from your father.

Chromosomal conditions are caused by two kinds of changes in chromosomes:
1. Changes in the number of chromosomes—This means there are too many or too few chromosomes.
2. Changes in the structure of chromosomes—This means that part of a chromosome may be missing, repeated or rearranged.

Chromosomal conditions usually result from an error that occurs when an egg or sperm cell develops. It is not known why these errors occur and as far as we know, nothing that a parent does or doesn’t do before or during pregnancy can cause a chromosomal abnormality in their child. In some cases these kinds of changes can be inherited or passed from parent to child.

In most cases, an embryo with the wrong number of chromosomes does not survive. In such cases, the pregnant woman has a miscarriage. This often happens very early in pregnancy, before a woman may realize she’s pregnant. More than 50 percent of first-trimester miscarriages are caused by chromosomal abnormalities in the embryo.

The American College of Obstetricians and Gynecologists recommends that all pregnant women be offered a screening test for Down syndrome and certain other chromosomal abnormalities. Screening may consist of a maternal blood test done in the first trimester (at 11 to 13 weeks of pregnancy) along with a special ultrasound of the back of the baby’s neck. It also can be a maternal blood test done in the second trimester (at 15 to 20 weeks). A screening test helps identify pregnancies that are at higher-than-average risk of these conditions.

However, a screening test cannot diagnose Down syndrome or other chromosomal abnormalities. If a screening test shows that your baby may have a problem, your provider gives you a diagnostic test that can tell you if your baby actually does or does not have a chromosomal condition.

Diagnostic tests include amniocentesis or chorionic villus sampling. Your provider also can check your baby’s blood for chromosomal conditions after he’s born.

Each child born with a chromosomal condition is different. Some children with chromosomal conditions have intellectual disabilities or birth defects, or both. But some children with these conditions don’t have any serious problems. The problems depend on which chromosomes are affected and how they are affected.

If you or someone in your family has a chromosomal condition, or if you have a baby with a chromosomal condition, talk to a genetic counselor. A genetic counselor can help you understand the causes of chromosomal conditions, what kind of testing is available, and your chances of having a baby with these conditions.

Pregnant at 46

Thursday, April 18th, 2013

pregnant2Most of us have heard that Halle Berry is pregnant at the age of 46. Wow, you go girl!  And did you see the recent episode of Call the Midwife where a first-time pregnant woman (a twin) in her 40s gave birth to twins of her own? Some women are asking us “If they can, why can’t I?”  Good question, complicated answer.

Women over age 35 may be less fertile than younger women because they tend to ovulate (release an egg from the ovaries) less frequently. Certain health conditions that are more common in this age group also may interfere with conception. These include endometriosis, blocked fallopian tubes and fibroids.

If you are over 35 and haven’t conceived after 6 months of trying, make an appointment to see your health care provider. Studies suggest that about one-third of women between 35 and 39 and about half of those over age 40 have fertility problems.  At age 47, most babies are conceived with some form of fertility treatment.  This can be time consuming and expensive and there is no guarantee the treatment will work.

Most miscarriages occur in the first trimester for women of all ages, but the risk of miscarriage increases with age. Studies suggest that about 10 percent of recognized pregnancies for women in their 20s end in miscarriage. The risk rises to about 35 percent at ages 40 to 44 and more than 50 percent by age 45. The age-related increased risk of miscarriage is caused, at least in part, by increases in chromosomal abnormalities.

The good news is that women in their late 30s and 40s are very likely to have a healthy baby. However, they may face more complications along the way than younger women. Some complications that are more common in women over 35 include: gestational diabetes, high blood pressure, placental problems, premature birth, stillbirth.  About 47% of women over age 40 give birth via cesarean section. You can see why it’s so important to keep all appointments with your health care provider.

All these things taken into consideration, many women who do conceive in their late 40s, either on their own (unlikely but not impossible) or with some fertility treatment, do manage to have healthy babies.  The important thing to remember is to have a preconception checkup and early and regular prenatal care. Know the signs of preterm labor, and give your doc or midwife a call whenever you have a question or concern.

We are proud to be partners in the Show Your Love national campaign designed to improve the health of women and babies by promoting preconception health and healthcare.

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.

Single umbilical artery

Friday, August 3rd, 2012

insideAbout 1 percent of singleton and about 5 percent of multiple pregnancies (twins, triplets or more) have an umbilical cord that contains only two blood vessels, instead of the normal three. The cause of this abnormality, called single umbilical artery, is unknown.

The umbilical cord is the life-line that attaches the mother and developing baby. Connecting through the placenta, a normal umbilical cord is made up of three blood vessels. One large vein carries oxygen and nutrient-rich blood to the baby and the two smaller arteries carry blood and waste products back to the placenta. The umbilical cord normally grows to about two feet in length, allowing the baby enough cord to safely move around without causing damage to the cord or the placenta.

In a single umbilical artery, one artery is missing. Studies suggest that babies with single umbilical artery have an increased risk for birth defects, including heart, central nervous system and urinary-tract defects and chromosomal abnormalities. A woman whose baby is diagnosed with single umbilical artery during a routine ultrasound may be offered certain prenatal tests to diagnose or rule out birth defects. These tests may include a detailed ultrasoundamniocentesis (to check for chromosomal abnormalities) and in some cases, echocardiography (a special type of ultrasound to evaluate the fetal heart). The provider also may recommend that the baby have an ultrasound after birth.

The diagnosis of a single umbilical artery does not necessarily mean that the baby will have a birth defect. It does mean, however, that some tests are warranted and that closer attention needs to be paid for the remainder of the pregnancy.