Aneuploidy

ahead of menstrual dating. A detailed anatomic survey was unremarkable. There were no structural abnormalities noted within the capabilities of our ultrasound equipment, although the profile was somewhat limited. There were no common markers of aneuploidy seen. Fluid and Doppler’s are reassuring and BPP is 8/8.…

Synopsis Scientists believe that one of the more probable ways for cancer to occur is through the process of transcriptional deregulation. Experiments were conducted by a group of researchers to conclude whether this hypothesis was one of merit or one that should be revised. These analysts first stated the process by which cancer can occur based on multitudes of mitotic genes and proteins. One way oncogenic cells are able to form, based off of the original hypothesis, is through transcriptional…

Nuchal translucency (NT) is the sonographic appearance of the subcutaneous accumulation of fluid behind the fetal neck in the first trimester of pregnancy. NT is measured between 11 to 13 weeks gestation with the optimal measurement of crown-rump (the length of an embryo or fetus measured from the skull vertex to the midpoint between the apices of the buttocks10) of 45 mm to 84 mm. Most fetuses can be viewed transabdominally scan, while some need additional transvaginal examination2. The…

Lindsey is a 33yo, G5 P3013, who is currently 18 weeks 0 days as dated by a 17 week scan. She has a history of opiate abuse but is currently in a Subutex clinic on 8 mg b.i.d. This is weaned down from 2 ½ tab daily. She does want to wean slowly throughout the pregnancy. She had no PNC until one week ago when she presented to the emergency room for significant vaginal bleeding. At that time they told her she was in the process of a miscarriage. She had some bright red bleeding throughout the…

unnecessary invasive diagnostic tests that lead to spontaneous abortion [64]. Therefore, replacing current invasive tests with Non Invasive Prenatal Diagnosis test (NIPD) would reduce risk and increase detection rate for the three most prevalent aneuploidies; Down’s syndrome (trisomy 21), Edwards’ syndrome (trisomy 18) and Patau’s syndrome (trisomy 13) [61]. The NIPT is based on the discovery of cell free fetal DNA (cffDNA) in maternal plasma which is detectable as early as 4 weeks gestation…

1 Name of your Genetic Disorder: Duchenne muscular dystrophy (DMD) 2 Gene locus on which chromosome: Gene locus on the short arm of the X chromosome named Xp21. 3 Type of disorder (autosomal, sex-linked, dominant, recessive, aneuploidy?): DMD has an X-linked recessive inheritance pattern. 4 Symptoms of the disorder: According to the National Human Genome Research Institute , generally, the symptoms of DMD appear between the age of 1 and 6. Since the age of one, the patient…

the nondisjunction. C. Meiosis has several aspect of the process to ensure success. The spindle checkpoint is an important aspect of the process to look at. The spindle checkpoint could have not perform its duty and could be responsible for this aneuploidy condition. Therefore, the spindle checkpoint of the process could most definitely be responsible. For the fact, failure of the spindle checkpoint working correctly can result in a nondisjunction. (7.) A. They have a fifty percent…

has three chromosomes. If a gamete lacks a chromosome and it bonds with a regular gamete, the result will be a monosomy. A monosomy is when all chromosomes are diploid except one that is singular. Other chromosomes could be added or missing in an aneuploidy, but these are very rare. Many times, aneuploids are lethal in humans and animals, and trisomy or monosomy conditions occur only within a small number of chromosomes (Bob Jones University,…

parents (or those just thinking about becoming parents) using a blood sample or tissue sample swabbed from inside the cheek. Prenatal genetic screening tests of the pregnant woman’s blood and findings from ultrasound exams can screen the fetus for aneuploidy; defects of the brain and spine called neural tube defects; and some defects of the abdomen, heart, and facial features.” (Golden). Carrier…

Down syndrome can be diagnosed in the prenatal stages of life. Noninvasive Prenatal Testing (NIPT) is a blood test performed during the tenth week of pregnancy. With NIPT, cell-free DNA can be examined for evidence of aneuploidy (an extra or missing chromosome) (Thompson 2015). NIPT is given to women, who are thirty-five or older, abnormality in Hiraldo 3 ultrasound and history of DS. Nuchal Translucency screening test is done by ultrasound to measure the neck…