Research Setting Vs. Clinical Genetic Testing

The main differences between clinical genetic testing and research testing are the purpose of the tests and who receives the results. ... read more »

Women 35+ Less Likely to Have Babies with Anatomical Defects

A study revealed a decreased risk of anatomical defects by as much as 40% when the mother is older. ... read more »

300 Year-Old Fertility Statistic is Still Cited Today

One out of three women over the age of 35 will not conceive after one year of trying to conceive (TTC). While that statistic may sound about right to most people, it may not necessarily be true in the present day. ... read more »

Blood Test for Pregnant Women Shows RNA Activity in Fetus

Researchers at Stanford University in California have developed a test that uses a small sample of a pregnant woman's blood to monitor the RNA activity of a fetus throughout pregnancy. ... read more »

Pregnancy Termination: Fetal Chromosome Abnormalities

In a retrospective study of 286 pregnancies where fetal abnormalities, particularly chromosome abnormality, was diagnosed females were more likely to terminate the pregnancy even with genetic counseling. ... read more »

Performance Artist Shares Story of Tragic End to Pregnancy

Nicole Stewart's show Bun in the Oven was supposed to be funny, filled with happy stories. It wasn't, but as the saying goes, the show must go on, so it opened as scheduled in October 2013. ... read more »

Impact of Chorionic Villus Sampling on Maternal/Fetal Cell-Free DNA Levels

Chorionic villus sampling (CVS) can be used to test for various chromosome disorders in pregnancy. Researchers from the University of Florence recently completed a study into the impact of CVS on maternal/fetal cell-free DNA levels. ... read more »

Link Between Childhood Leukemia and a Genetic Mutation

A recent study of the genomes of children with a rare form of acute lymphoblastic leukemia (ALL) found that this particular genetic mutation increases a child's risk of cancer by 2,700 times. ... read more »

Why Chromosomal Birth Defects More Likely in Older Mothers

A team of research scientists has recently discovered a new clue in the mystery of why chromosomal birth defects, like those that cause Down syndrome, are more likely to occur in older mothers. ... read more »

New Study on Chromosome Errors in Human Eggs

As many as 60% of a woman's eggs are thought to be defective by errors in chromosomal division. These errors represent the number-one cause of infertility. ... read more »

Down Syndrome (Trisomy 21)

Down syndrome is a genetic disorder caused by a duplication chromosome. Patients with Down syndrome have two copies of chromosome 21 so they are born with 47 chromosomes as opposed to the normal 46. ... read more »

What is a Nuchal Translucency Screening Test?

If you are really worried about your baby having any type of genetic abnormality, an NT screening with negative results could set your mind at ease. ... read more »

What is the Cost and How Long is the Genetic Testing?

The cost of genetic testing can range from under $100 to more than $2,000, depending on the nature and complexity of the test. ... read more »

Can Changes in Chromosomes Affect Health and Development?

Human cells normally contain 23 pairs of chromosomes, for a total of 46chromosomes in each cell. A change in the number of chromosomes can cause problems with growth, development, and function of the body's systems. ... read more »

Choosing Embryos for Transfer in IVF

One of the biggest issues in in vitro fertilization (IVF) is knowing which embryos have the best chance of implantation and normal development during pregnancy. ... read more »

How an Extra Chromosome Changes Entire Genome of Twins

Dr. Stylianos Antonarakis and his international team of researchers had the rare opportunity to study the genomes of identical twins where one twin had Down syndrome and the other did not. ... read more »

New Down Syndrome DNA Test 10 Times More Accurate

The latest edition of the Journal of Medicine includes the story on a DNA test that is ten times more accurate than those in wide use today and it can be done much earlier in the pregnancy, too. ... read more »

Microarray More Accurate Than Karyotyping

Genetic testing is an important part of diagnosing and treating chromosomal abnormalities. Currently, karyotyping is the most prevalent form of prenatal genetic testing, but the results of microarray testing appear to be more accurate. ... read more »

New DNA Test Offers Miscarriage Clues

Twenty percent of all pregnancies end in miscarriage and recurrent miscarriage happens to about 5% of all couples trying to have a family. ... read more »

Is Chromosome Detection Necessary for All Infertile Couples?

A study published in the Journal of Assisted Reproduction and Genetics reveals it may be necessary to complete karyotype analysis in all infertile couples. Research was completed at a reproductive center in Zhengzhou City, China. ... read more »

Designer Babies Could be Tested to Perfection

With the development and perfection of genetic testing, every chromosome in the human body can be tested for faults and defects. This testing can and does take place while the fetus is in-utero, so what is stopping couples from aborting a fetus because chromosomal testing reveals an imperfection? ... read more »

Trisomy 18 - Edward Syndrome

Trisomy 18 syndrome is a disorder of human chromosomes which occurs in approximately 1 in 6,000 live-born infants. Trisomy 18 is due to the presence of an extra #18 chromosome. ... read more »

Congenital Adrenal Hyperplasia (CAH), Fertility and Pregnancy

CAH or congenital adrenal hyperplasia is a disease caused by gene mutation. The condition affects cortisol, cholesterol and adrenal gland function. All CAH patients have some level of impaired fertility. ... read more »

BPA Could Increase Down Syndrome Risk in Unborn Fetus

BPA, or Bisphenol A, is an ingredient in some plastics and other household items. The chemical has been in the news for more than a year thanks to several research studies proving negative side effects on the fetal level with maternal exposure. ... read more »

New Method Could Double IVF Success Rates

About one in 15 couples worldwide are unable to have children after at least a year of trying, but new research promises to double the success rate of one type of fertility treatment. ... read more »

New Blood Test Detects Down Syndrome Early in Pregnancy

Obstetricians are constantly looking for better ways to diagnose Down syndrome. Currently, women with high risk factors associated with Down syndrome are urged to undergo amniocentesis. ... read more »

Older First-Time Moms Not at Higher Risk of Depression

Researchers at Macquarie University have found no connection between maternal age and risk of depression. The study expressly focused on older women. ... read more »

Barth Syndrome: Disease Characteristics and Growth Data

Barth Syndrome is a rare genetic disorder only associated with the X chromosome. The condition affects growth and causes cardiomyopathy and neutropenia. The study included males with an official diagnosis of Barth Syndrome (BTHS). ... read more »

Some Down Syndrome Markers More Important Than Others

During the second trimester, ultrasound can be used to note markers for increased likelihood of Down syndrome, but not all markers are created equal. According to a study doctors should look for a specific set of markers associated with the highest risk. ... read more »

Noninvasive Chromosomal Defect Test for Fetus

The current trusted method of testing for chromosomal anomalies in the fetus involves an invasive procedure where amniotic fluid is drawn from the amniotic sac and tested. The procedure is expensive and posts risk of infection and fetal harm. ... read more »

What Causes A Miscarriage At Six Weeks?

An early miscarriage is one that occurs between 6 and 12 weeks of pregnancy, or in the first trimester of pregnancy. What could cause a miscarriage at 6 weeks? ... read more »

Congenital CHARGE Disorder

In 1979, Dr. BD Hall was the first to describe CHARGE disorder. The name CHARGE is an acronym for the effects of the disorder on the body. ... read more »

What Is A Gene Mutation and How Do They Happen?

How does a gene mutation happen? Are gene mutations rare? ... read more »

Color Blindness And Pregnancy

Color blindness is an eye condition that affects how the patient sees color. Pigments that detect color variations do not work properly causing difficultly differentiating between certain colors or shades of the same color. ... read more »

What are the Types of Genetic Tests?

Genetic testing can provide information about a person's genes and chromosomes. ... read more »

Recurrence Odds - Down Syndrome

What is the risk of having another Down Syndrome baby? ... read more »

Your Vitamins Might be Too Much of a Good Thing

I love my chewy vitamins. Every day after lunch, I make sure I take a One-a-Day supplement to achieve my daily doses of nutrients. As a vegetarian, I feel that a supplement is especially important to make up for specific dietary deficits. ... read more »

Recurrent Miscarriages

A recurrent miscarriage is when you lose more than 2-3 pregnancies in a row, Most causes of miscarriages are unknown. ... read more »

Ambras Syndrome

Ambras syndrome, also known as hypertrichosis, is associated withexcessive hair growth. There are two types of Ambras syndrome 'congenital and acquired. ... read more »

Chromosomal Testing on IVF Embryos - Should You Do It?

Chromosomal testing on IVF embryos is not usually a regular part of the IVF process. However, some fertility specialists are offering it to couples who hope to use it to increase their chances of transferring a healthy, strong embryo to the woman's uterus. ... read more »

Aniridia

Aniridia is a congenital eye disorder also referred to as iris hypoplasia. At first glance, patients with aniridia appear to have no iris (colored part of the eye), but a closer look reveals the root of the iris. ... read more »

Club Foot

Club foot is a physical deformity that develops in-utero. About one in 1,000 births are affected by the birth defect. Male children are slightly more prone to the condition than female children. ... read more »

What is the International HapMap Project?

The International HapMap Project is an international scientific effort to identify common genetic variations among people. This project represents a collaboration of scientists from public and private organizations in six countries. ... read more »

What is Genetic Ancestry Testing?

Genetic ancestry testing, or genetic genealogy, is a way for people interested in family history (genealogy) to go beyond what they can learn from relatives or from historical documentation. ... read more »

What is Genetic Discrimination?

Genetic discrimination occurs when people are treated differently by their employer or insurance company because they have a gene mutation that causes or increases the risk of an inherited disorder. ... read more »

What are the Risks and Limitations of Genetic Testing?

The physical risks associated with most genetic tests are very small, particularly for those tests that require only a blood sample or buccal smear (a procedure that samples cells from the inside surface of the cheek). ... read more »

What are the Benefits of Genetic Testing?

Genetic testing has potential benefits whether the results are positive or negative for a gene mutation. Test results can provide a sense of relief from uncertainty and help people make informed decisions about managing their health care. ... read more »

What do the Results of Genetic Tests Mean?

The results of genetic tests are not always straightforward, which often makes them challenging to interpret and explain. ... read more »

How Can Consumers be Sure a Genetic Test is Valid and Useful?

Before undergoing genetic testing, it is important to be sure that the test is valid and useful. A genetic test is valid if it provides an accurate result. Two main measures of accuracy apply to genetic tests: analytical validity and clinical validity. ... read more »

What is Direct-to-Consumer Genetic Testing?

Traditionally, genetic tests have been available only through healthcare providers such as physicians, nurse practitioners, and genetic counselors. ... read more »

Pages