Mrs. Kern and her wife have arrived in the OB clinic where you are working. Mrs. Kern became pregnant through in vitro fertilizati at the age of 39 years, and the couple is now inquiring about further testing for genetic concerns in her 16th week of pregnancy. What tests would you expect the provider to recommend? Select all that apply. Alpha-fetoprotein hCG levels Cell-free fetal DNA Preimplantation genetic diagnosis Level II ultrasound
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- Mrs. Xexy Lucero, G1P1, postpartum mother brought her child Adriana to a Neonatologist for a consultation. Physical examination were done. Diagnostic tests were conducted. Karyotyping revealed Turner's syndrome. Which of the following responses are appropriate for Nurse Zasha to make? (Select all that apply). a. It is a result of deletion of chromosome X b. lt is a result of nondisjunction chromosomal aberration c. lt contains 47 chromosomes d. It contains 45 chromosomes e. The child with the defect can have children through in vitro fertilization.Jan is concerned about using ART. She wants to be the genetic mother and have Darryl be the genetic father of any children they have. What methods of ART would you recommend to this couple? Jan, a 32-year-old woman, and her husband, Darryl, have been married for 7 years. They have attempted to have a baby on several occasions. Five years ago, they had a first-trimester miscarriage, followed by an ectopic pregnancy later the same year. Jan continued to see her OB/GYN physician for infertility problems but was very dissatisfied with the response. After four miscarriages, she went to see a fertility specialist, who diagnosed her with severe endometriosis and polycystic ovarian disease (detected by hormone studies). The infertility physician explained that these two conditions were hampering her ability to become pregnant and thus making her infertile. She referred Jan to a genetic counselor. At the appointment, the counselor explained to Jan that one form of endometriosis (MIM 131200) can be a genetic disorder, and that polycystic ovarian disease can also be a genetic disorder (MIM 184700) and is one of the most common reproductive disorders among women. The counselor recommended that a detailed family history of both Jan and Darryl would help establish whether Jans problems have a genetic component and whether any of her potential daughters would be at risk for one or both of these disorders. In the meantime, Jan is taking hormones, and she and Darryl are considering alternative modes of reproduction. Using the information in Figure 16.4, explain the reproductive options that are open to Jan and Darryl.Patient B's History Patient B is a 28 year old male who is trying to identify a cause for his infertility. Chromosomes were obtained from nucleated cells in the patient's blood. Patient B's Karyotype 1. Using the correct notation for interpreting karyotypes, give your diagnosis for the conditions of each patient what diagnosis would you give patient B? (standard notation and phenotype (e.g. 47, XY, +21, male Down syndrome)) References:
- Please Answer with reason: 3) The nurse is explaining the inheritance of Huntington disease (autosomal dominant) to a newly diagnosed patient whose partner does not have the gene mutation. Which statement should the nurse make regarding family planning? a. There is a 100% chance with each pregnancy that the child will inherit the gene for Huntington disease. c. There is a 50% chance with each pregnancy that the child will inherit the gene for Huntington disease b. There is a 25% chance with each pregnancy that the child will inherit the gene for Huntington disease d. There is a 0% chance with each pregnancy that the child will inherit the gene for Huntington disease.Genetics of man 1)Determine the sex of the individual/patient based on your karyotyping results attached below. 2)Specify what kind of disorder this individual/patient may have based on your karyotyping results attached below .Please advise on the below for a punnet sqaure Brian is 15 months old. He has recently been diagnosed with X-linked ichthyosis. He is in the clinic with his family to receive the results of the genetic testing. The testing has been done to find out if Brian has an inherited or sporadic form of the disorder. Faisal and Nadia, Brian’s parents, are worried because they are expecting their second child, another boy, in about 3 months. Nadia’s medical notes reveal that she experienced significant post-natal depression after Brian’s birth. The clinician informs them that Nadia is a carrier of a causative mutation and asks them for a family history. Nadia explains that she has an older sister and that her mother miscarried a baby at about 16 weeks before going on to conceive Nadia. Nadia’s sister is married and has one healthy daughter aged 6. Nadia and her sister lost contact with their mother after she left their dad, but they are still in touch with their maternal grandmother, Lily, who…
- Amniocentesis is a prenatal medical procedure conducted by extracting and analyzing fetal cells in the amniotic fluid, the fluid that surrounds the fetus. What information can be obtained about the developing fetus through amniocentesis? fetal infections environmental toxin-induced defects structural defects chromosomal abnormalities IncorrectThe Meeting Sarah stared blankly at the blue paisley wallpaper. Her husband Mike sat by her side, bending and unbending a small paper clip. “Sarah and Michael, it’s good to meet you,” welcomed the genetic counselor, as she entered the room. “I apologize for being late, but I was just meeting with another couple. Let’s see, you’d like to have a child, but you’re concerned because of your family history of cystic fibrosis.” “Yes,” Sarah replied softly. “Mike and I met at a CF support group meeting a few years ago. He had a younger brother who died of cystic fibrosis, and I had a younger sister. We saw the painful lives they had—difficulty breathing, the constant respiratory infections. Although the treatments for CF are better now, we just don’t know if we can…” she trailed off. “I can certainly understand your concern,” the genetic counselor responded sympathetically. “That’s where I hope to help, by providing as much information and advice as I can. I’m glad that you came to see me…Kindly review my answers on the genotypes part. Please give me the correct answers if incorrect. Thank you.
- how do i expand this into 1000 words for a result section of a report The objective is to interpret the results of an RNA-Seq analysis to identify differentially expressed genes in breast cancer using figure 1. The data provided includes gene symbols, chromosome location, start and end points, strand, fold change, log2 fold change, p-value, and false discovery rate (FDR). The RNA-Seq analysis has identified several genes that are differentially expressed in breast cancer. These genes are located on various chromosomes and have varying levels of fold change, indicating the degree to which their expression levels differ between normal and cancerous cells. The gene with the highest fold change is EYA4, located on chromosome 6, with a fold change of 3604.4176. This indicates that the expression of this gene is over 3600 times higher in cancer cells compared to normal cells. The log2 fold change is 11.81555, which is a measure of the magnitude of the difference in gene expression. The…Preimplantation genetic testing – aneuploidy (PGT-A) is a rapidly growing area of fertility research commonly incorporated into IVF research workflows. Explain in detail the methodology and technique used for Preimplantation Genetic Testing with Ion ReproSeq test? What other genetic tests could be recommended?Having all the necessary information about chromosomal abnormalities, complete the table below to assess your understanding of all the lessons included.