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.
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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.
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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.
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Recurrent Miscarriages
A recurrent miscarriage is when you lose more than 2-3 pregnancies in a row, Most causes of miscarriages are unknown.
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What are the Types of Genetic Tests?
Genetic testing can provide information about a person's genes and chromosomes.
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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.
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Recurrence Odds - Down Syndrome
What is the risk of having another Down Syndrome baby?
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Ambras Syndrome
Ambras syndrome, also known as hypertrichosis, is associated withexcessive hair growth. There are two types of Ambras syndrome 'congenital and acquired.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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).
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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.
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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:
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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.
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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.
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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.
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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.
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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.
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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.
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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).
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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What Is A Gene Mutation and How Do They Happen?
How does a gene mutation happen? Are gene mutations rare?
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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).
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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.
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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.
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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.
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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.
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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.
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