2.1.5 #7-25 Your plan for Judy Smith. Explain why you’ve chosen each exam? Project 2.1.5 Medical History 1 Patient: Judy Smith Date of Birth: 10/10 Patient History: Judy Smith is a 38-year-old woman in good health in the 10th week of her pregnancy. She has had two previous pregnancies, both without complications. Judy has questions and concerns related to screening and diagnostic tests available to learn more about the health of their unborn child. Many of these tests were not available during her previous pregnancies. Notes – Visit #1: Patient is 10 weeks, 3 days into the pregnancy. She complains of slight morning sickness and fatigue, but otherwise reports feeling fine. Physical exam is normal. Blood pressure is 125/70. Fetal heart rate was detected at a rate of 160 bpm. Recommendations: I would recommend the first trimester exam to be done. The first screening of the maternal serum screening is a non-invasive evaluation that can detect any abnormalities in the baby. After all that is needed a maternal blood screening and an ultrasound. Notes – Visit #2: Judy Smith chooses to have a nuchal translucency (NT) ultrasound completed at 13 weeks, along with the first trimester screening blood tests. Her ultrasound is shown in the image on the right (left image shows a normal measurement). Ultrasound imaging shows an NT measurement of 3.6 mm (normal values are at or below 2.5 mm). Combined first trimester screening results come back as “abnormal” with a risk factor for chromosomal abnormalities of 1/100. Recommendations: The fetus should be in a neutral position, with the head in line with the spine, to avoid false negative or positive results. The chance of having a healthy baby falls as Nuchal translucency thickness increases, from around 70% for a Nuchal translucency of 3.5-4.4 mm to about 30% for a Nuchal translucency of 3.5-4.4 mm. There's a chance you'll have a bad pregnancy. If 100 women receive this test result, one will have a baby with Down Syndrome while the other 99 will not. This covers CVS and Amniocentesis. Notes – Visit #3: Judy Smith chooses to have amniocentesis during the 16th week of her pregnancy. The procedure goes well and there are no complications to the fetus. Chromosomal analysis reveals the following karyotype. Karyotype Analysis: A Karyotype can tell any abnormalities or problems that may be presented in the baby or can tell the sex of the baby. From looking at the picture we can tell the baby is going to be a male because of the X and Y chromosome. The chromosomes are arranged by the same size and same appearance so that it can be easily seen what chromosomes are missing or damaged. Research one chromosomal abnormality (other than Down syndrome) that can be diagnosed on a karyotype. The Klinefelter Syndrome is a hereditary disorder in which a guy is born with an extra X chromosome copy. This additional chromosome can be seen in a karyotype, and this disease is caused by a genetic error after conception, rather than being an inherited ailment. Descrobe how the karyotype shown in Figure 3 would differ for the chromosomal abnormality you investifated. The karyotype shown in figure 3 is different from the karyotype someone would have if they had Klinefelter Syndrome since it only shows 2 chromosomes. A Klinefelter syndrome karyotype has an extra X chromosome. Another difference is that the lines are straighter and more parallel in figure 3 unlike the curved asymmetrical lines in a Klinefelter syndrome karyotype. Describe what life would be like for the child who has the genetic disorder you researched: Weak muscles, poor motor development, reduced facial hair, and breast enlargement are just a few of the signs of Klinefelter Syndrome. Boys with Klinefelter Syndrome differ from ordinary boys in that they are taller and have a less muscular frame. Notes – Visit #4: Patient is 17 weeks, 2 days pregnant. She is relieved to hear that her amniocentesis results are normal. Judy is advised to return for regular ultrasound examinations and for monitoring of her weight, blood pressure, and glucose levels. Judy reports taking a prenatal vitamin each day and maintains a healthy diet. Her blood pressure was slightly elevated this visit at 145/80. The patient will return in three weeks for her full anatomy scan. Recommendations: Exercise regularly, cut back on caffeine, stay away from anything that raises body temperature, and take her parental medication and maintain a good diet. Also to take a type of Vitamin B to help prevent birth defects. Notes – Visit #5 – Anatomy Ultrasound: The 20-week anatomy ultrasound shows no abnormalities (see video in file). The fetus was very active during the session. Notes – Visit #6 – Glucose Tolerance Testing At 26 weeks, Judy completed the one-hour glucose challenge screening and the results were just outside of the normal range. For this reason, the patient was asked to complete the threehour Glucose Tolerance Test (GTT) screening. Patient completed GTT at the end of the 27th week. After a baseline blood draw, Judy drank the provided glucose solution. Her blood was drawn one hour later, two hours later, and again after three hours. Glucose Tolerance Testing results are shown below: Interval Blook Glucose Level Fasting 80 mg/dl One Hour 175 mg/dl Two Hours 160 mg/dl Three Hours 130 mg/dl GTT: Glucose Tolerance is a term that refers to a person's ability to tolerate sugar. Testing can be used to diagnose diabetes by giving a person a bigger amount of sugar when they haven't eaten, then watching their blood glucose levels to see how their body reacts to the sugar. Analysis and Recommendations: Don’t eat too many carbohydrates at one time, stick to complex carbohydrates, eat regularly, eating protein-rich and high fiber breakfasts. Conclusion Questions: 1. Explain why a woman who is pregnant should avoid alcohol and drugs. What effect do these substances have on the body systems of the fetus? They can cause miscarriage, preterm birth, and birth defects, like heart defect. They can be born with brain damages and problems with growth and development. Your baby could be born with a drug addiction. 2. Explain how glucose tolerance testing can be used to evaluate how well the body processes sugar. A glucose tolerance test checks how well the body processes blood sugar (glucose). It involves comparing the levels of glucose in the blood before and after drinking a sugary drink. The results of this test can help doctors to detect type 2 diabetes or pre-diabetes Smith family tree: Judy Smith Aaron Smith Gina Smith Meg Smith James Smith John Smith Sean Smith Samantha Smith Tyler Smith Sue Smith Carter Smith Mike Smith Juanita Smith
