Prenatal Diagnosis: Heredity Disorders, Other Biochemical Diseases, and
Disfiguring Birth Defects
There are over 250 recognized sex-linked diseases, affecting every organ system. Of these, 95% affect males, (Emery, 1968). Despite these many sex- linked diseases, at present prenatal diagnosis can specifically be made in fewer than 40 diseases. (Emery, 1968). These sex-linked diseases are individual rare and some are named after physicians who described them, for example, Hemophilia
A and B, Duchenne muscular dystrophy, fragile-X syndrome, Fabry disease, Hunter syndrome, Lesch-Nyhan syndrome, and Menkes steely-hair syndrome. The following discourse considers the reasons for the importance of prenatal diagnosis, heredity disorders, and disfiguring birth defects.(Nora,1989).
Fabry disease is a biochemical disorder caused by a missing enzyme.
(Mulinsky, 1989). A complex fatty substance accumulates in the body because of the missing enzyme which would ordinarily break this compound into pieces.(Nora,1989). This missing enzyme causes kidney and blood-vessel problems that lead to high blood pressure, kidney failure and strokes.(Mulinsky, 1989).
After many years of symptoms, most patients have died in their thirties and forties owing to a lack specific treatment.
A biochemical disorder also caused by a missing enzyme is the Lesch-
Nyhan syndrome, an extremely unpleasant disorder characterized not only by profound mental retardation and features of brain damage (stiff limbs with peculiar movements), but also self-mutilation, (Jones, 1988). Given good care and attention however, these patients may live on many years in their profoundly retarded state. They often require restraining, tying their hands, to prevent them from mutilating themselves.
Another Affected children with Menkes steely-hair syndrome have hair that feels similar to steel wool; in addition, they are retarded. The basic defect in this condition concerns the way the body handles copper.
Only a few of these sex-linked disorders can now be diagnosed in the fetus, (Stein, 1994). At the present time, the only recourse parents have in the case of sex-linked diseases that are not prenatally diagnosable is to determine the sex of the fetus. If a female fetus is found, the parents can be reassured that their child will not be affected (a critical exception is fragile-X). However, if it is determined that there is a male fetus present, there is a fifty percent chance that it is affected, (Milunsky, 1989). Since there is no way of being certain, the parents must decide simply on the basis of high risk weather to take a chance or terminate that pregnancy.
There are some unusual sex-linked diseases that are confined to females.
Disorders of this kind (such as incontinentia pigmenti, a skin disorder associated with brain damage) can be managed by determining weather the fetus is a female.
Twin studies have been used to distinguish between genetic and environmental factors for many disorders in the general population including ectodermal dysplasia, Ellis-van Creveld, and anencephaly. This review focuses on genetic disorders affecting monozygotic, dizygotic, and conjoined twins to gain a better understanding of them. Many studies focus on twins because they have a nearly identical genome, which eliminates environmental factors. In case studies, the concordance rates in monozygotic twins have supported that certain disorders were caused by genetics and not the environment. The discordant values in twins will also be evaluated briefly. Twinning studies have also shown linkages between specific disorders and the genes responsible for them. Knowing the location of these genes allows patients to be treated quickly and efficiently. This paper will discuss the possible causes of twinning and the various methods of identifying abnormalities in twins. These methods also allow preventive measures against the rise of birth defects during prenatal development. Epigenetics in twins is also viewed through the perspective of effects on them. Treatments for genetic disorders in twins are reviewed, ranging from the restoration of malformed teeth to the separation of conjoined twins. Support groups for twins in treatment, and their families are also briefly reviewed.
The parenting decisions are always easier to make if you can see the outcome before. It real life that is not possible and you just have to trust yourself and your child when making decisions. We would not change any of our decisions, because we believe in learning from our mistakes.
The birthmark is a compelling story of one man’s obsession with his scientific ability to produce perfection. Aylmer, a scientist, is married to a Georgiana who is a very beautiful woman. Not long after getting married Georgiana’s birthmark, which is in the shape of a tiny handprint on her check, really begins to bother Aylmer. He sees it as a flaw in an other wise perfect woman. Georgiana knows that her birthmark disgusts him and, having grown up not bother at all by it, begins to hate it herself. He asks if she has ever considered having it removed. This is not something she has considered since other people in her life, especially men, have always seen it as a “charm”. Aylmer being an amazing scientist almost sees himself as god and feels that he has the power to remove this imperfection. Georgiana, bothered by her husband’s reaction to her birthmark, agrees to let him try to rid her of it. She is taken to his laboratory and he immediately begins to experiment. After she finds Aylmer’s book of experiments, which all end in failure, she for the first time, has some doubt about how this will work and confronts him. He reassures her and begins to try a multitude of methods, with the help of his assistant Aminadab, which do not work. At one point, there are several experiments going on and he even refers to himself as a “sorcerer” (Hawthorne 232). Finally, he produces a potion, which she drinks, and the birthmark begins to disappear! Slowly though, even as the experiment is working, Georgiana is fading away. He finds that ultimately, the birthmark was connected to her very soul and in his trying to act god like he actually kills her. Really this short story just proves that science has its limits and no man should try to act like G...
In conclusion the theme of The Birthmark is expressed within the story. “The crimson hand expressed the ineludible gripe in which mortality clutches the highest and purest of earthly mould, degrading them into kindred with the lowest, and even with the very brutes, like whom their visible frames return to dust. In this manner, selecting it as the symbol of his wife's liability to sin, sorrow, decay, and death.” (Hawthorne 359). This story tells a lot about human nature, the most important one is that human beings are naturally imperfect creatures, trying
By reading the DNA of a fetus Prenatal DNA sequencing is the next dividing line of the genome revolution. Prenatal DNA sequencing is a noninvasive screening in which scientist can be able to sequence the DNA before birth. This is a primary process of gene altering in which where researchers are trying to correct an imperfection in a child. Scientist has discovered by a mother giving her blood sample and the father giving a spit sample, an entire genome of their fetus can be born. Clinical test capitalize on this DNA to discern the baby’s sex and determine whether mother and child have incompatible Rh blood groups, which can lead to fatal complications. Every gene and every chromosome known about a baby’s genetic make-up, while still in the u...
In Nathaniel Hawthorne’s story “The Birthmark” you find a couple fairly prevalent disorders. Although psychology was as of yet not existence, Hawthorne describes them quite well. Alymer suffered from an obsessive-compulsive personality disorder, while his actions caused Georgiana to develop a body dysmorphic disorder. Both of which attributed to the eventual demise of Georgiana.
Spielman, B. (1995). [Review of Women and prenatal testing]. Journal of Law, Medicine & Ethics, 23, 199-201.
Prenatal non-genetic factors that occur before, during, and after birth and how they can effect schizophrenia later in life:
The information in this experiment supports the premise that alcohol can cause birth defects or premature death. In the introduction it was questioned if alcohol would produce similar physical deformities as seen in humans. The data supports that alcohol can cause facial deformities as seen in humans.
Thus the reason fetal monitoring is important in the case of
The prenatal period is considered the period between the conception of a baby until its birth. During this time embryo's and fetus go through major changes to prepare for their life after birth. In the years after they are born, what we call infancy and toddlerhood, while as adults we don't seem to change much in a year or two, children go through many changes that are crucial in developing the patterns of their futures.
what is right or wrong or if they would know on their own if their parents or guardian
In this report I will be discussing the development issues about prenatal development, and the newborn. Developmental psychology is basically a psychology study that focuses on the cognitive, physical, and social change throughout our life span. In prenatal development we learn about nature and nurture, continuity and stages, and stability and change. Prenatal Development is the process in which babies develop from one single cell after making a baby into an Embryo and later on a fetus . An Embryo is the process of a human organism for about approximately 2 weeks after the fertilization though the second month.
In the early days most pregnant women would rely on their grandmother’s silly predictions or other old wives tales to predict whether their unborn baby was a boy or a girl. However, women had no way of knowing the sex of their baby until the actual moment of birth. The idea of gender determination has always been a challenge, and to this day one still cannot fully understand the concept of gender determination. However, with the use of modern day technology and much research, experts have found ways to determine the sex of unborn fetus.
and perhaps it is even worse if the child is allowed to choose which parent to