Chorionic Villus Sampling and Maternal/Fetal DNA

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 »

Glycogen Storage Disorder

The term Glycogen Storage Disorder is used to describe a collection of genetic diseases that affect how glucose is converted to glycogen or how glycogen is broken down into glucose. ... 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 »

Pyelectasis of the Fetus in Pregnancy

A pyelectasis is a dilatation of part of the kidney. At 21 weeks, the renal pelvis can often not be seen separately from the kidney. ... read more »

Congenital Duncan’s Disease

The official name of Duncan's Disease is X-linked lymphoproliferative disease. The condition is caused by a malformation of the X chromosome, which means both male and female children can be affected. Specifically, the SH2D1A gene does not exist. ... read more »

DiGeorge Syndrome

When a small section from the middle of Chromosome 22 is missing, DiGeorge Syndrome occurs. The disorder happens in one of 4,000 pregnancies. DiGeorge Syndrome was discovered in 1968 by  Angelo DiGeorge. ... read more »

Trisomy 13 - Patau Syndrome

Trisomy 13 syndrome is a disorder of human chromosomes which occurs in approximately 1 in 10,000 live born infants. Trisomy 13 is due to the presence of an extra #13 chromosome. ... read more »

Recurrence Odds - Down Syndrome

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

New Test for Trisomy 21 Less Invasive

The age at which women are choosing to start a family is getting older and older. With increased age comes a greater risk of Down Syndrome (Trisomy 21) at birth. ... 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 »

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 »

Canavan Disease

Canavan Disease is a genetic disorder commonly found in Ashkenazi Jews. The disease causes a premature breakdown of white matter in the brain. The disease is associated with chromosome 17. ... read more »

Fabry Disease

Fabry Disease is a genetic disorder passed along to children from the mother. The gene for the disorder is carried on the X chromosome. ... read more »

Congenital Heart Disease: Causes and Symptoms

Most obstetricians and heart specialists don't have an explanation exactly why  congenital heart disease occurs, though there are some common causes or risk factors that may contribute to the likelihood of CHD. ... read more »

Congenital Heart Disease: Diagnosis and Treatment

If your infant or child is experiencing increased fatigue, blue tinting of the skin or other conditions indicative of decreased or altered blood flow, the pediatrician may suggest testing for a congenital heart defect. ... read more »

What is a Chromosome?

In the nucleus of each cell, the DNA molecule is packaged into thread-like structures called chromosomes. Each chromosome is made up of DNA tightly coiled many times around proteins called histones that support its structure. ... read more »

How Many Chromosomes do People Have?

In humans, each cell normally contains 23 pairs of chromosomes, for a total of 46. Twenty-two of these pairs, called autosomes, look the same in both males and females. The 23rd pair, the sex chromosomes, differ between males and females. ... read more »

How Can Gene Mutations Affect Health and Development

To function correctly, each cell depends on thousands of proteins to do their jobs in the right places at the right times. Sometimes, gene mutations prevent one or more of these proteins from working properly. ... read more »

Do All Gene Mutations Affect Health and Development?

No; only a small percentage of mutations cause genetic disorders'mosthave no impact on health or development. For example, some mutationsalter a gene's DNA sequence but do not change the function of theprotein made by the gene. ... read more »

How is Genetic Testing Done?

Once a person decides to proceed with genetic testing, a medical geneticist, primary care doctor, specialist, or nurse practitioner can order the test. Genetic testing is often done as part of a genetic consultation. ... 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 »

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 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 »

What Kinds of Gene Mutations are Possible?

The DNA sequence of a gene can be altered in a number of ways. Gene mutations have varying effects on health, depending on where they occur and whether they alter the function of essential proteins. ... read more »

What Does it Mean if a Disorder Seems to Run in My Family?

A particular disorder might be described as 'running in a family' ifmore than one person in the family has the condition. Some disordersthat affect multiple family members are caused by gene mutations, whichcan be inherited (passed down from parent to child). ... read more »

Are Chromosomal Disorders Inherited?

Although it is possible to inherit some types of chromosomal abnormalities, most chromosomal disorders (such as Down syndrome and Turner syndrome) are not passed from one generation to the next. ... read more »

Why Might Someone Have a Genetic Consultation?

Individuals or families who are concerned about an inherited condition may benefit from a genetic consultation. The reasons that a person might be referred to a genetic counselor, medical geneticist, or other genetics professional include: ... read more »

What Happens During a Genetic Consultation?

A genetic consultation provides information, offers support, andaddresses a patient's specific questions and concerns. To help determine whether a condition has a genetic component, a genetics professionalasks about a person's medical history. ... read more »

How Can I Find a Genetics Professional in My Area?

To find a genetics professional in your community, you may wish to ask your doctor for a referral. If you have health insurance, you can also contact your insurance company to find a medical geneticist or genetic counselor in your area who participates in your plan. ... read more »

How are Genetic Conditions Diagnosed?

A doctor may suspect a diagnosis of a genetic condition on the basis of a person's physical characteristics and family history, or on theresults of a screening test. ... read more »

How are Genetic Conditions Treated or Managed?

Many genetic disorders result from gene changes that are present in essentially every cell in the body. As a result, these disorders often affect many body systems, and most cannot be cured. ... read more »

What is Genetic Testing?

Genetic testing is a type of medical test that identifies changes in chromosomes, genes, or proteins. ... 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 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 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 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 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 »

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 »

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 »

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 »

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 »

What are the Types of Genetic Tests?

Genetic testing can provide information about a person's genes and chromosomes. ... 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 Is A Gene Mutation and How Do They Happen?

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

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 »

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 »

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 »

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 »

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 »

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