Clinical Medicine

Download PDF by Miriam S. DiMaio: Prenatal Diagnosis: Cases and Clinical Challenges

By Miriam S. DiMaio

ISBN-10: 1405191430

ISBN-13: 9781405191432

How can prenatal trying out aid your patients?In utero prognosis has gone through an grand revolution lately. extra assessments can be found; the symptoms for prenatal prognosis have improved - now you can suggest your sufferers approximately issues you couldn't have formerly detected. scientific education for obstetricians, clinical geneticists, and genetic counselors has no longer saved speed with those advancements. scientific publicity to universal and weird difficulties in prenatal analysis is limited.Prenatal prognosis: scientific instances and demanding situations, in keeping with the authors’ a number of a long time of studies, fills this hole. genuine circumstances painting diagnostic difficulties as a path to the underlying biology, the on hand trying out ideas, and the consequences that will be received. The authors speak about the demanding situations of administration, interpretation, and counseling.Cases used all through emphasize 3 forms of medical problems:Chromosomal abnormalitiesMendelian disordersFetal structural abnormalitiesThe determination to go into the area of prenatal prognosis can be very rigorously thought of via any potential mom. Prenatal analysis: scientific situations and demanding situations may help you speak about the problems in an educated demeanour together with your sufferers.

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Each of this woman’s children has a 50% chance of inheriting her RB1 gene mutation. Of those with the mutation, 95% will develop a retinoblastoma in at least one eye, and all face a high lifetime risk of developing other cancers. These children need early surveillance by retinoblastoma specialists in ophthalmology and oncol ogy. This woman could also have prenatal diagnosis of the RB1 gene mutation or preimplantation genetic diagnosis for a future pregnancy. For a fetus who is at high risk or known to carry a RB1 gene mutation, ultrasound surveil lance is indicated.

His father and paternal grand father died of a stroke in their early 40s. It is not known whether the paternal grandfather had polycystic kidney disease. The husband is an only child, as was his father. The husband’s mother is alive at age 78 years. The husband reports that he has hypertension, which is well controlled by antihypertensive medications, and that he has regular brain imaging by MRI. The couple wants to avoid the birth of a child who will develop polycystic kidney disease. Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common single gene disorders, affecting about 1 in 800 individuals.

If they have a single gene disorder, autosomal reces sive and autosomal dominant inheritance would be the most likely possibilities. If the former, the risk of occur rence of their disorder in the women’s children would be small, presuming that she is unrelated to her husband. If the latter, the risk could be considerable because autoso mal dominant disorders very often have a wide range of clinical expression even among members of the same family. Some affected relatives have such subtle findings that they go undiagnosed.

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Prenatal Diagnosis: Cases and Clinical Challenges by Miriam S. DiMaio


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