Research being currently carried out into cystic fibrosis includes trying to find a cure through gene therapy, this would try to prevent lung disease in a cystic fibrosis sufferer. People with cystic fibrosis suffer with their lungs becoming clogged with a sticky mucus making it very difficult for them to breathe. Prevention of cystic fibrosis could be done through screening a person to see if there is any family history of the disease present. Also by testing a woman during their pregnancy, by performing an aminocentisis test which would mean a sample of fluid taken from the womb. Also "chronic villus sampling", this involvs a sample of tissue (a biopsy) taken from the placenta and tested.
Genetic Counseling A child is born and one of the first things that happen to the newborn is that he or she gets their heel pricked and a small amount of blood is drawn for testing. One may think that testing must be done for a few conditions, but in reality that tiny blood sample is used to screen over thirty types of genetic and metabolic disorders (myoptumhealth.com). Through this type of screening medical personnel can foresee if there are any disorders the child could have in the future and assess a plan of action. Genetic counseling comes into play with this process at the time of diagnosis of a disorder through the screening. “Genetic counseling: An educational counseling process for individuals and families who have a genetic disease or who are at risk for such a disease.
Obstetric and gynecological sonographers examine the babies being developed in a mother’s womb. When performing an ultrasound on someone there are steps that should be followed. First of all, before starting an ultrasound put some jelly on the woman’s stomach. Secondly, make the woman’s uterus easier to visualize by pushing any loops of her bowl up and out of the way, especially during early pregnancy. The bowel contains air or gas and ultrasound waves do not travel well through air.
• Originally called them “mongoloids” but was changed to “down syndrome” • Caused by a copy of a chromosome • Physical signs: - one crease in the individual’s hand - flat face with an upward slant to the eye - short neck - small hands and feet • There are many health conditions that are often seen in people with down syndrome due to having an extra copy of Chromosome 21. • National Institute of Child Health and Human Development houses a good website which contains much information about both the background of the disability and ways to make it work for the individual. • There are prenatal tests to discover whether a child will have down syndrome. This leads into the debate on abortion and prevention of
There are many tests that can be performed on a woman during pregnancy. If it cannot be detected during pregnancy, a doctor can usually determine it by the distinctive facial features a person with Down Syndrome has. A karyotype, which is an observation of the chromosomes, will confirm the presence of the three paired chromosomes. There is no way to completely rid a person of this disorder. However, with the help of tutoring and therapy, a person with Down Syndrome can succeed in school and join the working world.
Maternal risks of a multi-fetal pregnancy include hypertension, preeclampsia, gestational diabetes, and postpartum hemorrhage (Multifetal Pregnancy Reduction, 2013). Maternal and neonatal morbidity and mortality increase with each fetus. The most common method of fetal reduction is trans-abdominal multi-fetal pregnancy reduction. An ultrasound is used as a guide and a needle containing potassium chloride is inserted through the woman’s abdomen, into the uterus and into the fetal sac causing the heart to stop (www.webmd.com). Following the procedure, the fetal tissue is normally absorbed by the mother’s body.
To diagnose cystic fibrosis, two sweat tests are usually done in a lab by the Cystic Fibrosis Foundation. A child needs to have a sweat chloride result of greater than 60 on two separate sweat tests to officially be diagnosed. (WebMD) When kids are first diagnosed with CF, they may or may not have to spend some time in the hospital. It all depends on how bad their condition is. If they do, they'll have diagnostic tests, like measurements of their breathing and seeing if they have enough nutrients.
Radiologist technologist are very important to the society because with the knowledge of taking the x-rays, MRIs, CAT scans, and Ultrasounds we can help in the diagnosis process. From broken bones, to tumors in the brain, to a baby still in the womb, we can look at what is going on in someone if there is a
They appear below the groin crease. This type of hernias is a result of pregnancy or childbirth. Most doctors will recommend early repair compared to waiting. Umbilical Hernias occur near the bellybutton or navel. They also occur in infants at or just after birth.
In addition, doctors look for any appearances of slow growth both prenatal and postnatal. Some other indications that doctors consider are behavioral characteristics and neurodevelopmental characteristics in the child (Buckley, Budacki,Ismail, Gallicano, & Jabbar, 2009) . After the initial evaluation by the doctor, the next step would be to get a specialist involved to complete a comprehensive assessment. The comprehensive assessment can be completed by a psychologist, psychiatrist, or any other mental health professional that is licensed and knowledgeable to conduct assessment. A professional has to be careful when diagnosing a child with FAS because there are many other psychological, medical, and psychiatric disorders that can be easily confused with FAS.