Down Syndrome Concerns Essay

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,

The first way that prenatal testing can be done is through something called a prenatal diagnostic test. "In general, it is the diagnostic procedures, such as amniocentesis and chorionic villus sampling, that people think of when they hear the term prenatal testing," (Press 1). Amniocentesis is when doctors take a sample of the fluid that surrounds the baby in the uterus to determine certain genetic disorders or chromosomal abnormalities. Chorionic villus sampling is when doctors take cells from projections on the placenta to also discover any genetic disorders or chromosomal abnormalities. These processes are considered "invasive" because they are putting objects that could potentially hurt the baby into the protective area surrounding the baby. These ways of prenatal testing come with a very negative feeling because they could possibly injure the baby, and the word invasive is attached to a very negative connotation. However, these options can find more abnormalities and diseases than non-invasive prenatal testing. "NIPT accurately diagnoses Down's syndrome, Edward's syndrome, Patau syndrome, Turner's syndrome, and numerical chromosome aberration and cannot detect other chromosomal anomalies," (Ryu & Kim 1). Even though this is true, NIPT is still a very beneficial option to the mother and unborn child. NIPT usually uses a DNA sample to determine chromosomal abnormalities that could lead to things such as Down's syndrome. The procedure is done by the doctors taking a sample of the mother's blood to determine what types of diseases and disabilities the baby will have. Many people like this type of prenatal testing because it is not detrimental to the baby, or mother's health. "Studies investigating the acceptability of NIPT suggest that pregnant women find it preferable because the standard screening is associated with more uncertain results and

In the article, “Sequencing the Unborn”, by Kai Kupferschmidt discusses a new procedure that could change the way how genetic diseases are found in fetuses. Currently doctors are able to extract some fluid in the womb or placenta, has a one percent probability that it could cause a miscarriage. However a chemical pathologist, Dennis Lo discovered that there is enough of the fetuses DNA in the mothers. Instead using the previous method mentioned, parents and doctors could instead use the ten percent of fetus DNA that is in the mothers' blood. This can still be quite tricky, Lo stated when knowing the parent's haplotypes, it is possible to figure out the fetuses genome.

An expectant mother goes to her obstetrician for her monthly exam. The doctor confirms a concern the he or she has from the previous exam and orders an amniocentesis. An amniocentesis is performed by removing amniotic fluid, with a long needle, from the placenta to be used for genetic testing. Results from the “amnio” revealed a mutant gene for cystic fibrosis is carried by the fetus. Abortion was a recommended option

Modern day technology has taken the “surprise” out of pregnancy for a large number of parents if they choose to utilize it. An option parents might explore is having a prenatal assessment to determine if there are any identifiable genetic abnormalities in the unborn child. There are risks associated with certain procedures such as false positive results, procedure induced miscarriages or possible fetal limb abnormalities.

i. Amniocentesis is one type of prenatal testing that can be used. The doctor takes a sample of amniotic fluid from the mother and tests the fluid for a mutation in FMR1.

Amniocentisis is the most common prenatal test performed today (Morris, 1993). While the test is not totally risk free, estimated fetal loss due to amniocentesis is less than 0.5 percent (O'Connor, 1989). This procedure involves the extraction of a small amount of fluid surrounding the developing fetus. Within this fluid are cells which contain the genetic information of the fetus. Upon analysis of this fluid, the determination of the sex as well as the location of genetic abnormality causing genes can be identified.

As previously stated, this procedure can detect a new unborn child’s potential genetic disorders or disabilities. The information is then relayed back to the parents and giving them extra warning

If a mother chooses to have tests done, she has many different routes such as an amniocentesis, blood work, or chorionic villus sampling. All of these tests are done to provide more information on the growing fetus. In Marilynn Marchione’s (2014) article, “Prenatal Genetic Testing Helps Pregnant Women Detect Birth Defects”, she interviews Dr. Ronald Wapner, a productive genetics chief at Columbia University Medical Center in New York. Dr. Wapner explains that with the use of prenatal genetic testing, doctors are able to give countless amounts of expecting mothers information about what can cause disabilities such as down syndrome, or severe autism. Doctors can also explain what the prognosis is, and what special care a child may need. He also goes into detail about how many mothers who are 35 years and older are at high risk of having a child with a disability. Wapner believes it is needed to have the tests done for their safety and safety of the fetus. Having tests done will better prepare doctors and expecting mothers to what is happening in the womb. Yes, many expecting mothers are offered screenings with an ultrasound, or a blood test that can detect some common abnormal cell counts, such as down syndrome, but these can not be relied upon alone. Visual chromosome exams for example, will show doctors and parents a majority of potential diseases a child may have. Some prefer it, and some do not. It does not give a definite answer, but it will help parents and doctors look out for symptoms and signs of the diseases. Without warning, or knowledge, a parent may not know what is wrong. With these tests, parents can learn to be more aware, and increase their knowledge of

We discussed genetic testing options of invasive procedures including CVS and amniocentesis with their risks and complications and pros and cons, but she was not interested in these test and they were declined. We also discussed noninvasive prenatal testing (NIPT) with its benefits and limitations. Because it was a donor egg, the Panorama test cannot be used but Sequenom-MaterniT testing can be done. We also discussed quad screen testing. Upon completion of this portion of the consultation, they were interested in the NIPT and in further discussion elected to have the GENOME test performed. This bloodwork was drawn. We will forward the results to your office upon their return in 14

Prenatal testing can help woman identify any unknown health problems that can endanger their unborn child that may or may not be treatable. There are four main processes, non-invasive and invasive, that will be evaluated being ultrasound, amniocentesis, Chorionic Villus Sample and cordocentesis. Prenatal testing is used to detect changes in the foetus’s genes or chromosomes. They distinguish chromosomal abnormalities, monogenetic diseases caused by single gene mutations and polygenetic diseases that are caused by mutations in several genes. Reasons for a karyotype analysis or invasive prenatal testing are maternal age as the probability of chromosomal abnormalities increase with maternal age, if an existing child of the couple’s has a chromosomal

When such a condition is detected, or highly suspected, what then? According to Farrell et al., (2014) physicians are most concerned with the ethical issue of pregnancy termination. In the case of Down Syndrome, this is with good cause. A systemic review by Natoli, Ackerman, McDermott and Edwards (2012) found a weighted mean termination rate following a prenatal diagnosis of Down syndrome was 67%, with a range of 61% - 93%. The evidence they presented suggested that termination rates varied according to maternal age, race, and gestational age. (These variances alone open another ethical can of worms). But one can see, after only brief examination of this one genetic screen, why physicians, and society in general, should be concerned. There is no concensus regarding whether or not pregnancy termination is ethical in and of itself, let alone when one decides to terminate due to knowledge of specific genetic markers or

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.

The next technique routinely performed for prenatal diagnosis is amniocentesis. A long needle is inserted into the mother’s uterus to withdraw a sample of amniotic fluid containing cells shed by the fetus. The cells are cultured and analyzed for chromosome abnormalities. Despite the lengthy time in obtaining results because the cells need to be cultured, this method has become widely accepted as a safe and accurate way to determine genetic disorders.

Down syndrome was named after John Langdon Down, who was the first person to discover Down syndrome. In the earlier years it was called Mongolism, which is no longer used because it is offensive to the Mongolians. James N. Parker and Philip M. Parker state “Down syndrome is a chromosomal disorder caused by an error in cell division that results in the presence of an additional third chromosome 21 or ‘trisomy 21’” (10). There are different types of Down Syndrome according to the National Down Syndrome Society (NDSS), there is Trisomy 21, Mosaicism, and Translocation (What is Down syndrome?). There is no way to prevent having a baby with Down syndrome although chances increase as the woman gets older. The NDSS says, “A 35-year-old woman has about a 1 in 350 chance of conceiving a child with Down syndrome, and this chance increases gradually to 1 in 100 by age 40” (What is Down syndrome?). Although the risk is greater for older women, it is still possible to have a child with Down syndrome at a younger age.