What Is Down Syndrome?

Improved Essays
In every human body, there are basic structural units for every organism called cells. In every cell, there is a nucleus, which contains genetic information that is stored in genes. Genes carry the data needed for our inherited traits, and are grouped by chromosomes. Everyone has 46 chromosomes, 23 from the mother, and 23 from the father. In 1 in about 700 babies born, there is a congenital disorder that creates an extra portion or copy of the 21st chromosome. This disorder is called Down syndrome. It is the most commonly occurring chromosomal condition. People who are born with Down syndrome usually have a flat face ,Protruding tongue, Upward slanting eyes, Unusually shaped or small ears, Poor muscle tone, Broad, short hands with a single …show more content…
Recognized in 1886, the report made Down the “Father of the syndrome”. People may have pointed out the characteristics of it, but it was Down that figured it was an entire condition of its own. As history advanced, scientists went into deeper research of this condition. And in the 1950’s, it was recognized as a chromosomal condition. It was Jérôme Lejeune that found 47 chromosomes instead of 46. Down syndrome is not hard to diagnose, doctors realize physical characteristics of those with Down syndrome in the delivery room, or they perform tests. Down syndrome is diagnosed by 2 different tests before a baby is born. Screening tests and Diagnostic tests. Screens determine if the fetus in the womb has a probability of having Down syndrome or not. On the other hand, Diagnostic tests will give you a concrete diagnosis. Nowadays, there are multiple methods of taking a screening test for women. Most of them involve a blood test, usually performed in conjunction with a sonogram to check for signs that might associate with Down syndrome. If the mother doesn 't get a test, it is identified at birth by physical traits, like low muscle tone a deep crease across the palm of the hand, a flat face, and a slant to their eye placement. These features can be present in babies without Down syndrome, so doctors perform an analysis called a karyotype, where they take blood from the baby to sample its cells. They take a picture of the chromosomes and group them by size, number, and shape. By examining the karyotype, the doctors can determine Down

Related Documents

  • Improved Essays

    Down Syndrome Essay

    • 788 Words
    • 4 Pages

    Nuchal Translucency screening test is done by ultrasound to measure the neck of the fetus, when there is an abnormality fluid collects in the neck tissue. Amniocentesis is a sample of the amniotic fluid surrounding the fetus is withdrawn through a needle inserted into the mothers ' uterus in a study by mayoclinic.org (pg2). Chorionic villus sampling (CVS) is a test when cells are taken from the placenta to be tested for DS. Although some of these diagnostic tests can diagnose Down syndrome in early stages of pregnancy some women chose to take an abortion if positive for DS. If the mother decides to go through with the pregnancy the child will go through newborn screening test, the most common test is checking the facial structure.…

    • 788 Words
    • 4 Pages
    Improved Essays
  • Improved Essays

    Prenatal Care Essay

    • 862 Words
    • 4 Pages

    These tests can screen for genetic defects like Down Syndrome, diseases like rubella, and malformations like spina bifida. There are various other prenatal tests that can detect problems in the fetus. Technologies such has ultrasounds, that weren’t around years ago allow doctors to see a baby’s development in the womb. Through ultrasounds doctors are able to identify physical characteristics that can sometimes be linked to disorders. Doctors use this as an indicator to determine if further testing should be done.…

    • 862 Words
    • 4 Pages
    Improved Essays
  • Improved Essays

    Article B In the article “Breast milk and subsequent intelligence quotient in children born preterm” A. Lucas and R. Morley (1992) conducted a thorough experiment on the effects of mothers’ breast milk on premature newborns. The researchers are not new to this line of work, they conducted another experiment before this one showing a correlation between preterm infants who drank breast milk and better development. In the article I read, the researchers did an exceptional job on perfecting their experiment. They had both dependent and independent variables, and an experimental group and a control group. Lucas and Morley also kept in mind the confounding variables, and incorporated those with their findings.…

    • 801 Words
    • 4 Pages
    Improved Essays
  • Improved Essays

    Who Are Designer Babies?

    • 1013 Words
    • 5 Pages

    They can ensure them a healthy life before they are born. Some fertility clinics, like the Fertility Institutes, offer a service called pre-implantation genetic diagnosis, PGD. This service screens a couple’s in-vitro fertilization embryos for life-threatening…

    • 1013 Words
    • 5 Pages
    Improved Essays
  • Improved Essays

    It is important in IVF for the ovulation not to happen early, so that the doctors are able to successfully retrieve the eggs at a planned time. Women will produce several more eggs than normal when receiving these injections. When my stepmother was preparing for her eggs to be removed and implanted into the surrogate, both the surrogate and my stepmother had to give themselves shots every…

    • 1057 Words
    • 4 Pages
    Improved Essays
  • Superior Essays

    Down Syndrome Research Paper

    • 2392 Words
    • 10 Pages

    As Peggy Parks states in Down Syndrome, Down syndrome usually develops before fertilization of the egg occurs (8). This is why doctors are able to test for Down syndrome before the fetus is even considered to have viability--which is the ability for a fetus to live out of the womb. The two test that are used to test for Down syndrome in fetuses are chorionic villus sampling, which is taking a tissue sample from the fetus. The second type of test is called amniocentesis, which is taking a sample of amniotic fluid, the fluid that surrounds the fetus in the womb (Parks 18). These tests are mostly accurate but a few women who get tested for Down syndrome in their baby will be given false-positive tests (Wood).…

    • 2392 Words
    • 10 Pages
    Superior Essays
  • Superior Essays

    Genetic Screening Essay

    • 1327 Words
    • 6 Pages

    ("Learning about tay-Sachs Disease.") Prenatal screening comes with a lot of benefits as well. Using different methods of screening, including amniocentesis (a procedure where some amniotic fluid is drained for karyotype analysis) and chorionic villus sampling (taking some villi cells in the placenta and analyzing their karyotype), doctors and specialist can detect the possibility of the fetus developing genetic disorders early on. For example, the triple test for Down syndrome, which tests for raised amniotic fluid alpha protein, raised maternal serum chorionic gonadotrophin, and low unconjugated oestriol, tests the maternal serum of the mother, and has a 85 to 90 percent accuracy rate. (Godard, Beatrice et al.)…

    • 1327 Words
    • 6 Pages
    Superior Essays
  • Superior Essays

    During pregnancy, women go through several prenatal tests, and mothers can choose to go through diagnostic tests. These tests can show the sex of your baby, they can show possible birth defects, and can show genetic diseases in the baby. One condition that babies can be tested for is anencephaly. Anencephaly is a birth defect that ends in death a few hours after childbirth. The major parts of the brain, scalp, and skull of the baby do not form completely as it is developing in the uterus.…

    • 1100 Words
    • 5 Pages
    Superior Essays
  • Superior Essays

    In the article “How Do Doctors Diagnose Miscarriage and Pregnancy Loss”, Danielsson explains that ultrasound machines use sound waves through the abdomen or vagina to get a rough image of the gestational sac and developing fetus in the uterus”. Oftentimes a single scan, at the beginning of a pregnancy, will show complications. The author then goes on to explaining what will be viewed when looking for a miscarriage. During the scan, the technician will take measurements of the sac and developing fetus for the doctor to compare with the expected measurements for the gestational age. In addition to taking measurements the technician will also look for a heartbeat.…

    • 1550 Words
    • 7 Pages
    Superior Essays
  • Superior Essays

    Designer Babies Designer babies allow parents and doctors to select gender, eye colour, and hair colour. It was originally screened for diseases in the baby. Doctors are tried to isolate the physicals genes of the baby. There are two types of advanced reproductive technology that are allowed on humans the first one is (I.V.F) in vitro fertilisation .Using in vitro fertilisation it allows doctors to reduce the risk that the baby will be born with a genetic disorder. I.V.F allows doctors to fertilise an egg and sperm outside the body in a lab.…

    • 1424 Words
    • 6 Pages
    Superior Essays

Related Topics