I want to start today with a fact, a fact that shocked me when I first saw it. 100% of all prenatal pregnancies that are diagnosed with Down syndrome in Iceland are aborted, but before you think about that for too long I want to explain how we got here and how genetic technologies are evolving to help parents and doctors.
Screening works by looking for similarities and differences in the genetic markers between two biological samples. It compares the baby's dna to the normal healthy sequence. Screening can be broken into two main categories, that is, prenatal or before birth and newborn, after birth. Prenatal testing is used to detect changes in a fetus's genes or chromosomes before birth, whereas newborn screening is used to identify genetic disorders that can be treated early in life.
During pregnancy most expectant mothers will have an ultrasound and a blood test, these common procedures are the first part of prenatal screening, known as first trimester screening. In this a sample of blood is taken and tested for the concentration of two hormones, Alpha-fetoprotein and Human chorionic gonadotropin, which often
…show more content…
Some other reasons for a diagnostic test include having had a previous pregnancy with Down syndrome or other birth defect and a family history of a genetic condition. There are two main types of diagnostic tests; Chorionic Villus Sampling and Amniocentesis. In both of these a needle is guided by an ultrasound, to avoid damage to the fetus, through the abdomen. Amniotic fluid or chorionic villus cells are collected and are tested for missing, extra or abnormal chromosomes. These procedures carry a 1% risk of miscarriage but are beneficial as even if one would not terminate a pregnancy, knowing whether the baby has special needs would help to prepare and organise specialist antenatal care or to book into a tertiary hospital for the birth if
There can be many reasons as to why a woman might have an abortion. It may be due to an unwanted pregnancy in general, health issues with the mother that will cause her sickness throughout the pregnancy, ectopic pregnancy, and even awareness of a physical flaw with the child such as down syndrome. Prenatal testing has made it possible to determine whether or not a baby will have down syndrome during pregnancy, and research has shown that 92% of women who are aware of their child having a disability, abort their pregnancy. One statistic showed that from 2002 to 2010, 17,983 babies with disabilities were aborted in the UK. It is mentioned that many of these babies were compatible for life outside of the womb. This means that the baby could have survived, and abortion was not necessary.
second, prenatal testing, is a testing of a fetus at risk for the disease. The
This is called newborn screening. Within newborn screening there three test normally given. This screening occurs not long after birth and can provide details about developmental, genetic and metabolic disorders. Two test completed in the screening are for hearing loss and for critical congenital heart disease (CCHD). The hearing test is completed by placing either a tiny earpiece of microphone in the infants’ ear with a sound playing to see whether the infant responds or not. Another way the test is given is by using tiny earphones and electrodes that are placed on the infant’s head to detect the brains response to sound (National Institute of Child Health and Human Development, 2015). The other tests that may be performed is the CCHD screen which the amount of oxygen in an infant’s blood is measured. In order to do this a sensor is placed on the infants’ skin for a couple of minutes, while the sensor measures the level of oxygen in the blood. Within in newborn screening there is also another tests which is the most important
An individual who has Down syndrome can be recognized as different from others since he or she have different physical features, but the question is, what causes individuals to have deformed face, little different features than someone who does not have Down syndrome? The reason some individuals are born with Down syndrome is because of an extra chromosome, this chromosome, which carries number 21. It is also known as Trisomy 21. Having this sort of disability, does not truly affect their life in a way they are not able to live, but it affects their cognitive levels, their physical growth of the child with Down syndrome. As the mother goes for an ultra sound, doctors can detect that the child within the mother’s womb has Down syndrome. (1) Mothers over age 35 have higher risk of giving birth to a child with Down syndrome, and 1 in every 1,000 women at the age of 30. In addition, in every 100 women, who age 40 there is a mother has a child with this case. As woman ages there is a higher chance of conceiving a child with Down syndrome than a woman who is in her mid-20s or younger. (2) This essay will highlight the effects and supports of Down syndrome in children.
The fetus may measure under expected weight, and with later ultrasounds, physical abnormalities may be seen. The use of an ultrasound is not a full proof method of diagnosis for trisomy 18. During the end of the first trimester, pregnant mothers are given the option of prenatal screening to assess the fetal risk of certain chromosomal abnormalities, including trisomy 18. This testing referred to as combined test, combines results from the mother’s blood and the ultrasound results. If results suggest a higher risk probability, a later more conclusive test will be scheduled. During the 15th to 18th week of pregnancy, an amniocentesis or chorionic villus can be performed to have a detailed analysis of the fetal chromosomal material which will show any abnormalities in their karyotype. There is a slight risk with both procedures of injury of the fetus or possible miscarriage. Newer testing has been developed as “non-invasive prenatal diagnosis,” which involves extracting fetal DNA from the mother’s blood sample. After birth, diagnosis is suspected based on physical attributes of the infant. As with before birth, blood testing for chromosome analysis is used for confirmation testing.
18. American College of Obstetricians and Gynecologists. Maternal serum screening. ACOG Educational Bulletin, 1996; no. 228.
Another technology that has been around for a while is the general ultrasound. In the article by Jennifer Wang she states, “The risk of a patient having a fetus with Down syndrome can be assessed non-invasively using fetal markers seen on ultrasound.
Down syndrome, a genetic disorder, is the most common cause for intellectual disabilities, occurring at an average of one out of every 700 births (CDS, 2006). This disorder is caused by the extra chromosome 21 (also known as Trisomy 21). According to Hassold and Sherman (2002), the probability of giving birth to a child with DS is not linked to any race, ethnicity, socioeconomic status or geographic location. Maternal age seems to be the only etiological factor that may cause DS.
In recent years, genetic testing has become a popular topic in the media. Usually involving cheek swabs, blood samples, or amniotic fluid samples, the procedure is relatively simple and can help diagnose genetic disorders, determine ideal medication types, or simply determine the patient’s heritage. It has saved many lives from cancer and other afflictions, but to say that genetic testing is always the correct choice is false. There are many issues with the tests, considering that they are new to the medical world. Genetic testing is mostly harmful because of privacy concerns, how underdeveloped it is, and the risk of it pushing a mother to abort her child.
These will include: Ultrasound. This test uses sound waves and a computer to create images of the inside of your uterus. This allows your health care provider to look at your developing baby and other structures, such as your placenta. Pelvic exam.
Prenatal genetic screening in particular is a polarizing topic of discussion, more specifically, preimplantation genetic diagnosis (PGD). PGD is one of the two techniques commonly used to genetically screen embryos in vitro; it is usually done at the eight-cell stage of division. PGD is most often performed when there is the risk that one or both parents carry disease-causing mutations. It is extensively used by high-risk individuals trying to conceive babes who will be free of particular mutations. PGD can test for over 50 genetic conditions and even allows for sex selection if there are underlying gender-associated medical conditions. When the results are satisfactory, the selected embryo is implanted into the mother’s uterus. While a controversial technique, preimplantation genetic diagnosis is one example of some of the good genetic testing can do, more benefits will be furthe...
Maternal serum markers tests determine the presence of pregnancy as well as the age of the fetus. The test allows the patient to be screened for the presence of fetal risk as determined by levels of alpha-fetoprotein (AFP), estriol, and human chorionic gonadotropin (Hcg) (Genetic Alliance, 2010). Maternal serum screening test is a blood test which is offered during pregnancy to determine the risks of neural tube defects, Down syndrome (trisomy 21) and Edward syndrome (trisomy 18) to the fetus. ("Pregnancy tests," 2014). During the first trimester maternal serum testing is used in combination with ultrasound to determine the risks. The test involves blood screening between 9 and 13 weeks gestations and an ultrasound
I know some families get an abortion because their baby has Down syndrome.
Newborn screening is the practice in which the harmful or potentially fatal conditions that can affect the infant's health or survival are detected. This process can prevent death or health problems and protect the infant against certain diseases and medical conditions. Newborn screening started in 1960's when many states in U.S.A. established a newborn test program for phenylketonuria (PKU) by using the Guthrie method, a system for the collection and transportation of blood samples on filter paper. Many Infants showed developments while receiving treatment. This success led to the addition of tests for other metabolic diseases. Over time, tests were added for endocrine disorders and now newborn screening program include more than 50 individual conditions.