Down Syndrome
Down syndrome is a genetically defect in which there is an extra chromosome on chromosome 21 also called Trisomy 21. This chromosomal material affects the course of development and more towards characteristics associated with Down syndrome. Some characteristics of the chromosomal abnormality, Down syndrome, are low muscle tone, small stature, upwards-slanted eyes, a single crease across the palm, and a protruding tongue. Since one out of 691 babies are born with this chromosomal disorders, Down syndrome is the most common chromosomal abnormality.
The older the mother gives birth, the higher the risk of the baby receiving the condition. For example, a mother the age of 30 has a one in a thousand, a mother the age of 35 has a
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Genetic ultrasounds check with blood tests checking the fetus for some physical abnormalities related to the condition. On the other hand, diagnostic tests are 99% accurate in discovering down syndrome and other chromosomal abnormalities. When performing the diagnostic test inside the uterus, there are chances of miscarriages and other problems. Diagnostic tests include chorionic villus sampling, amniocentesis, and percutaneous umbilical blood sampling. Chorionic villus sampling includes collecting a small sample of the placenta, either through the cervix or through the abdomen, usually performed between 10 to 12 weeks of pregnancy. Amniocentesis includes eradication of a small amount of amniotic fluid and therefore allows doctors to examine for the appearance of any type of chromosomal abnormalities. This process is usually performed between 15 to 20 weeks of pregnancy and carries risk factors of complications such as preterm labor or miscarriage. Percutaneous umbilical blood sampling involves collecting a sample of blood from the umbilical. This process is usually performed while the mother is 18 weeks pregnant and also includes the same risk factors as amniocentesis. Subsequently a child is born, if the doctor notices any down syndrome physical traits, they will collect either a blood or tissue sample stained to show chromosomes using a
Dating Ultrasound The first scan an expectant mother will have will usually be during the 8 – 14 weeks mark. This initial scan is often referred to as the dating ultrasound. The reason for this is because it is during this scan that the sonographer will estimate the baby’s estimated date of delivery or due date based on the measurements of the baby. The dating ultrasound can also include a nuchal translucency test, which is one of the components of the Down syndrome screening procedure.
Research has been with the fetal tissue for several kinds of diseases to help find a
Some of the tests for diagnosis during pregnancy include ultrasound, amniocentesis, and an AFP (alfa-fetaprotein) test. An ultrasound is a non-invasive test if done abdominally, and oftentimes spina bifida can be seen as a result of the ultrasound. Amniocentesis is an invasive procedure in which a needle is inserted into the amniotic sac and a sample of amniotic fluid is obtained and tested. If the level of AFP is found to be higher than average, this could be an indication of spina bifida.
As a result many couples were given the diagnosis only at birth. But under a new recommendation from the American College of Obstetricians and Gynecologists, doctors have begun to offer a new, safer screening procedure to all pregnant women, regardless of age.” (Harmon, 2007). The nut graph set the rest of the article up to discuss the campaign by parents who are worried about their children with Down Syndrome and their future but also the new advancements giving women of all ages early diagnoses of Down syndrome in the pregnancies and the rate of
During this process, the blood is tested for higher levels of immunoreactive trypsinogen or IRT. The sweat test is another test used to test the amount of salt in the sweat and see if it is higher than normal. A blood test can also check the DNA to see if the gene that can cause Cystic Fibrosis is defected. These tests are usually done on infants and they must be tested at Cystic Fibrosis specialized clinic. (Mayo Clinic Staff)
The article, “Prenatal Tests puts Down Syndrome in Hard Focus,” begins with a soft lead. It focuses on Sarah Itoh, a child with Down syndrome. I found this to be effective because of the nature of this article, it is talking about a child with Down syndrome and it shows off a little bit of her personality. The nut graph of the article comes after the author describes that Sarah likes school and how Math was hard, but it is getting better. I believe the nut graph is: “Until this year, only pregnant women 35 and older were routinely tested to see if their fetuses had the extra chromosome that causes Down syndrome.
If both parents are carriers, there is a 25% chance of a child inheriting both recessive genes and developing the disease. There is a 50% chance of a child being a carrier, and there is a 25% chance of the child inheriting both dominant
Identify 1 Community Agency that could be a helpful Resource to you, now that Flora is enrolled in your early childhood program. For EACH: 1. Identify one specific support/ service that you will use. 2. Describe how you will use it as an Educator.
We did have a full discussion with her regarding AMA issues and her risk for trisomy 21 as well as aneuploidy at term based on age alone. The fact that the ultrasound was completely negative decreases this risk somewhat. We did discuss various genetic testing options including amniocentesis with its risks and complications and pros and cons versus noninvasive prenatal testing (NIPT) with its benefits and limitations versus a quad screen. The patient was not interested in any further genetic testing or screening and therefore this was declined. She was told that if she changed her mind the quad screen should be performed this week based on her gestational age and that we would prefer to perform the amniocentesis in the next 2 weeks if possible again be cause of her gestational age.
Klinefelter syndrome, also known as ‘47,XXY’ and ‘XXY’ is found in males, this is due to the fact that the host male gets another X chromosome. The image on the right you can see the extra chromosome with the pair of sex chromosomes. Usually there are only two chromosomes that determine the sex, one from opposite sexes but when it comes to Klinefelters Syndrome there is an extra X chromosome. Because this due to the additional chromosome it can described as a chromosome disorder.
Down syndrome is a very common genetic disorder. 1 in every 691 kids are born in the United States has it according to the National Down Syndrome Society c. Symptoms of Downs include: mild to moderate mental disability, stunted growth, low muscle tone, and thyroid issues, higher risk for Alzheimer’s and heart failure. (Genetic Disorders Sourcebook, Third Edition) (Transition: Now that you have a better understanding of what Down Syndrome is, let’s take a look at the 2 most common ways Trisomy 21 occurs) II. Although there are more than two ways to acquire the extra 21st chromosome that causes Down Syndrome, I’m only going to cover the two most common.
From a young age I knew that there were people in the world that were different. My sister was born August 26th of 2002, bright eyed and ready to conquer the world. I did not truly notice anything was different about her, Crissa was simply just Crissa. She had her quirks, but I thought nothing of them. Down syndrome is not something that I would use when describing Crissa.
The prenatal diagnostics and prenatal screening being routine procedures should be considered as advantage of modern medicine. It helps to reveal wide spectrum of fetus abnormal conditions, but not only congenital defects and malformations. Early detection of many of them could help to perform surgical correction and necessary management as soon as possible in order to save newborns’ lives. On the other hand, this method is widely discussed and it has many opponents, and in some countries prenatal diagnostic procedures is not considered now as a screening method. Main ethical issues are terminations of pregnancies in case of malformations, which may be supposed as eugenical abortion, inform consent and problem of decision-making process.
The chromosome analysis after ultrasonography is associated with chromosome abnormalities, karyotyping of either amniotic fluid cells or fetal blood cells obtained by cordocenetsis may be performed after ultrasonographic detection of an abnormality. The mostly chromosome abnormalities have been found because of cystic hygroma, limb abnormalities, omphalocele, duodenal stenosis, hydrocephalus and malformations of the face. (thompson, 1986) 3.2.Biochemical Assays for Metabolic Diseases: More than 100 metabolic disorders can be diagnosed prenatally in chorionic villus tissue or cultured amniotic fluid cells, and a few rare conditions can even be identified directly by assay of a substances in amniotic fluid. The metabolic disorders diagnosed by enzyme assay in chorionic villi or cultured amniotic fluid
The most common aneuploidic disorder is Trisomy 21, or Down Syndrome. This disorder is characterized by three chromosome 21s. See figure 4 for Trisomy 21 karyogram. Common signs: Seen across all ethnic communities, a person with Down syndrome has short stature, distinct facies, short fingers & toes, broad hands, slanted eyes, thick tongue, and developmental delays.