Genetic Disorders Case Studies

Here is a real life story of a woman who has been greatly affected by genetic testing and has seen both the good and the bad of genetic testing. This is a story that was posted in an article called “6 Moms Share Their Real Prenatal Testing Stories” on the website “What to Expect” from Courtney from Lake Stevens, Washington about how genetic testing has affected her life. So for Courtney, a few weeks after her 13 week ultrasound and her quad screen her doctors told her she had a positive screen for Down syndrome. So at 17 weeks she had to go back in for another ultrasound and genetic counseling which according to kids health.org is counseling that allows a genetic counselor to evaluate the results of a genetic test with the parents and helps the parents understand and reach decisions on what to do next. Her ultrasound looked great but still had a positive screen for Down syndrome. So she was was recommended for either an amnio or verifi test. Courtney then went to genetic counseling and choose to have the verifi test done over the amnio. A week later her results came back negative for Down syndrome and confirmed the baby was a girl. Courtney said “I am glad we opted to get the verifi test done especially after the stress of getting a positive screening before. I like how that if the NIPT did turn out positive for Down syndrome, I could have prepared ahead of time for the care of a special needs child would require, rather than feeling completely caught off-guard at birth.”

If they still choose to have prenatal testing done and received a positive result, they would need to make a choice. One of those choices could be to terminate the pregnancy. Another one is to be as prepared as possible and get ready to have a baby with medical issues. If there was going to be a problem, “parents can use the information they receive from the testing to prepare for the possibility that their child may have special needs” (healthguidance.org). Although these results can help the parents make informed decisions, there is the possibility of false positives. Parents will assume the worst case scenario and the baby could be born perfectly healthy. Another mindset of many parents, especially those who are religious, believe they are only given what they can handle and would rather not know of any issues in advance since they do not approve of abortions anyway.

Procedures such as amniocentesis and chorionic villus sampling (CVS) represent the standard diagnostic methods used by clinicians to screen fetuses for abnormalities or genetic disease such as Down syndrome. In amniocentesis, a needle is inserted into the amniotic sac of the mother and a small sample of amniotic fluid is obtained. Fetal tissue is contained within the amniotic fluid and is subsequently analyzed genetically and cytogenetically for abnormalities. In the case of CVS, a sample of placental tissue is obtained through the mother’s cervix for downstream genetic analysis as in the case of amniocentesis (CDC,

In order to review their inherited genetic risks and help them understand and provide counseling according to their specific needs the genetic counselor should know the Trosacks ' have already established that their unborn child has Tay Sachs disease and based on those needs they should be provided with appropriate guidance and counseling as they progress through their pregnancy. The discussion should include what causes genetic disorders, and what that means to the Trosack couple specifically, including dominant, recessive and x-linked disorders. However, recessive disorders should be fully discussed in this case. Another topic to include in the discussion are what genes and chromosomes are, and the relation to Tay Sachs disease.

Shadowing Dr Anderson allowed me to encounter the day to day problems faced by a physician. I've learned about genetic disorders and their symptoms, but I got to see how diagnosis is rarely that clear cut. Most of the patients presented with developmental delay, a symptom common to many genetic disorder. Variable expressivity and penetrance further complicates differential diagnosis. Genetic testing is required for confirmation, yet almost never covered by insurance. Out of pocket costs can be too expensive for many families to afford. Without a confirmed diagnosis, it's difficult for families to get the needed support from insurance and the government. Dr Anderson tried to avoid going through insurance by enrolling her patients in clinical

Some of the diagnostic test Jennifer may expect would be a maternal blood test, amniocentesis, and a chorionic villus sampling test. These tests can tell her whether her baby has birth defects of the brain and spine (maternal blood test), also to see if the baby has chromosomal birth defects such as, Down syndrome, muscular dystrophy, and cystic fibrosis (amniocentesis test), and CVS test, which tests for the same birth defects as amniocentesis, the results just come back quicker, but do not give enough information, therefore an amnio test is recommended as well. The risks associated with these diagnostics can result in a miscarriage.

Modern medicine now relies more and more on genetic science, so the demand for health care professionals who can assess and communicate these health issues is significantly increasing. This is because public awareness is growing in conjunction with scientific advances in reproductive technologies. Health care consumers now want genetics specialists who can provide highly accurate and advanced consultations regarding their unique genetic conditions. Most genetic counselors work with couples or single mothers who

The purpose of the document is to explain the benefits of prenatal genetic counselling, procedures and tests used to find genetic abnormalities, and what to do with the information received through genetic counseling.

There are possible ways to diagnose, and then treat this disease. A test called an amniocentesis

PWS can be detected before birth if the mother undergoes amniocentesis testing or chorionic villus sampling but this testing is only recommended if the mother or father is known to have a chromosome rearrangement, or if they already have a child with PWS.

There are two stages to determine if someone is diagnosed with autism. The first stage is a “General development screening during well and checkup . “ Those at high risk include children who have a family member with ASD behaviors have older parents, Certain genetic conditions”. (“Stage 1”). This stage help them determine all the different genetics and different traits that may have happened during the time of them being born and also as they get older.

Once the baby is born, a blood test is done as a diagnosis. “In CVS, tissue is taken from the villi of part of the placenta for examination, usually between the 8th and 10th week of pregnancy” and “amniocentesis is done during pregnancy. Some amniotic fluid is collected and diagnosed for a genetic or some other condition.” (Nordqvist, What is Triple-X Syndrome?) Amniotic Fluid is the fluid surrounding the fetus in the amnion. There is no specific screening to diagnose Triple X Syndrome, in most cases the condition is found when screening for another problem in the

There are three ways that a mother can be tested during pregnancy to see if their child will have Down syndrome. One is amniocentesis, which is the removal and analysis of a small sample of fetal cells from the amniotic fluid. Amniocentesis can not be done until the 14-18th week of pregnancy and with this process there is a lower risk of miscarriage than with the other two processes. Another process is chorionic villus sampling (CVS), which is the extraction of a tiny amount of fetal tissue at 9 to 11 weeks of pregnancy. The tissue is then tested for the presence of extra material from chromosome 21. Chorionic villus sampling has a 1-2% chance of the mother having a miscarriage. The last process is percutaneous umbilical blood sampling (PUBS), which is the most accurate method used to confirm the results of CVS or amniocentesis. During PUBS the tissue is tested for the presence of extra material from chromosome 21. PUBS cannot be done until the 18-22nd week and it carries a high risk of the mother having a miscarriage.

There are around 6,000 known genetic disorders (Genetic Disease Foundation). The symptoms of these disorders range from memory loss to blindness, physical abnormalities and more. A process known as gene editing was created in an attempt to do away with genetic disorders. Gene editing was named “Science Magazine 's Breakthrough of the Year 2015” due to its ease and high accessibility (ScienceDirect). It works by using CRISPR (Clustered Regularly Interspaced Short Palindromic Repeats) and Cas9 to make changes in the genes of cells. Francisco Mojica discovered CRISPR in 1993 at the University of Alicante in Spain (Broad Institute). It works by adding, changing or even removing DNA bases (Your Genome). Alexander Bolotin discovered Cas9 in 2005 at the French National Institute for Agricultural Research (Broad Institute). Cas9 is an enzyme that “acts as a pair of ‘molecular scissors’ that can cut two strands of DNA at a specific location in the genome so that bits of DNA can then be added or removed” (YourGenome). “The CRISPR-Cas9 system has been used to correct genetic mutations and for replacing entire genes, opening up a world of possibilities for the treatment of genetic diseases” (ScienceDirect). This makes CRISPR-Cas9 a new and revolutionary technology with a wide range of potential applications, and almost everybody will be affected by gene editing in one way or another. The scientists currently working on making human gene editing a reality, is only one group of

People who may be especially interested and advised for testing might include couples with a family history of genetic disease, those that might have a birth defect, pregnant women over the age of 34, couples who already have a child with a genetic disorder, and couples concerned about specific disorders that occur more frequently within their ethnic group (March of Dimes 1997).