GENETIC TESTING: Introduction, definition, methods: molecular, chromosomal and biochemical, indications, types: preimplantation, forensic, newborn, carrier, prenatal, ethical, social and legal issues, interpretation of tests, risks and limitations, role of nurse
GENETIC TESTING: Introduction, definition, methods: molecular, chromosomal and biochemical, indications, types: preimplantation, forensic, newborn, carrier, prenatal, ethical, social and legal issues, interpretation of tests, risks and limitations, role of nurse
What are the Pitfalls of Ignoring a Patient’s Family Historykanew396
The process of collecting a patient’s family history helps engage and educate them about the possibility of a hereditary condition in the family. Going through the process of risk assessment also gives breathing room to a patient as they decide on genetic testing, which can be complicated.
Fetal medicine is an upcoming branch of Obstetrics where the fetus is given the primary care right from screening to diagnosis and management of a fetal problem. Read more at http://bangalorefetalmedicine.com/
What are the Pitfalls of Ignoring a Patient’s Family Historykanew396
The process of collecting a patient’s family history helps engage and educate them about the possibility of a hereditary condition in the family. Going through the process of risk assessment also gives breathing room to a patient as they decide on genetic testing, which can be complicated.
Fetal medicine is an upcoming branch of Obstetrics where the fetus is given the primary care right from screening to diagnosis and management of a fetal problem. Read more at http://bangalorefetalmedicine.com/
¿Cuáles son las claves para mantener la motivación? Aquí te decimos cómo superar las barreras mentales y encontrar la mejor motivación del mundo.
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Cómo conseguir trabajo con tu Marca PersonalInfoJobs
En este webinar, Iñaki González, Técnico de Recursos Humanos y Community Manager, te dice cómo construir y cuidar tu Marca Personal, ya que a través de ésta puedes transmitir una imagen que puede beneficiarte en el ámbito laboral y personal.
Además te da consejos para potenciar tus cualidades profesionales con el objetivo de sobresalir y diferenciarte de los demás.
Cómo utilizar las Redes Sociales en la búsqueda de empleoInfoJobs
Laura Mingo, experta en el área de selección, te explica las principales herramientas que hay en la actualidad para hacer encontrar trabajo con las redes sociales y hacer un networking efectivo.
https://orientacion-laboral.infojobs.net/webinar-utilizar-redes-sociales-al-buscar-trabajo
Balance optimista en 2016 para la lucha contra el cambio climaticopablo gioveni
LOS PAISES QUE RATIFICARON EL ACUERDO DE PARIS, DEMUESTRAN UN SOLIDO COMPROMISO EN ALCANZAR LOS OBJETIVOS DE FIJAR EL INCREMENTO DE LA TEMPERATURA EN 2 °C. ADEMAS DE QUE REPRESENTA UNA OPORTUNIDAD DE HACER CRECER LAS ECONOMIAS DOMESTICAS
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Put to the test as genetic screening gets cheaper and easier,.docxamrit47
Put to the test: as genetic screening gets cheaper and easier, it's raising questions that health-
care providers aren't prepared to answer
The American Prospect, November 2010
When my children were born in the mid-1990s, new parents could already see that prenatal genetic
testing was altering the terrain of pregnancy and childbirth. Growing numbers of educated women were
having children at older ages, with resulting difficulties and risks. More and more parents faced
challenging, deeply personal decisions about whether to engage in genetic testing and what to do if they
received unfavorable results.
I remember my own anxieties when my wife, Veronica, took a blood test that searched for elevated
alpha-fetoproteins, which are associated with diverse ailments ranging from spina bifida to
anencephaly. The mere prospect of these rare conditions--and even the choice to undergo the tests--
was surprisingly painful. At least genetic counselors and other professionals were available to help guide
us.
By that point, amniocentesis had been in wide use for more than two decades. As researchers identified
the genetic markers associated with a growing list of important conditions, educated, secular, and
affluent communities began to embrace genetic testing. A small but lucrative market in assisted
reproductive technologies quickly emerged, which provided parents with greater control over the
genetic characteristics of their offspring. In some parts of America, new diagnostic technologies
provoked unease regarding their eugenic potential.
In retrospect, these innovations were incredibly tame. Technological limits, cost, intrusiveness, and risk
constrained the scope of screening efforts. Roughly one in every 200 amniocenteses resulted in
miscarriage, which made the procedure too risky to justify screening the full population of pregnant
women. The human genome had yet to be sequenced. Newborn screening was routinely used to
identify a handful of important metabolic disorders, but it was a very expensive process. There was a
certain clarity, too. The most common use of amniocentesis was (and remains) to detect conditions
associated with very serious physical or intellectual disabilities. When such conditions were detected,
most parents chose to terminate the pregnancy.
Fast forward to 2010. Prospective parents can now be tested before pregnancy, and those found to be
carriers for serious conditions have the option of in-vitro fertilization, whereby embryos can be pre-
tested for genetic markers associated with Alzheimer's disease, hemophilia, muscular dystrophy, Tay-
Sachs disease, and more. Many of these same markers can also be detected by do-it-yourself genetic-
testing kits, which are beginning to appear on the Internet and on drugstore shelves. Walgreens may
soon sell a cheap home test that covers 37 genetic conditions. (Sales are postponed pending approval by
the Federal Drug Administration.) You will soon ...
General Psychology Interpret an instance of behavior (individual .docxlianaalbee2qly
General Psychology
: Interpret an instance of behavior (individual or collective) recently in the news from the point of view of any two of the three schools of thought that became popular when psychology emerged as a discipline. Your response should include specific details including the major theorists and goals of the two selected schools of psychological thought. Your response should be at least 200 words in length. You are required to use at least your textbook as source material for your response. All sources used, including the textbook, must be referenced; paraphrased and quoted material must have accompanying citations. Wade, C., Tavris, C., & Garry, M. (2014). Psychology (11th ed.). Upper Saddle River, NJ: Pearson Education. Must be done in APA format
ONE PAGE /275 WORDS ONE SOURCE BOOK REFERENCE
[1/29/16, 11:29 AM] josphat mungai (
[email protected]
):
Author: R.A. Noe
Employee training and development (6th ed.). New York, NY: McGraw-Hill
2:General Psychology
: A researcher hypothesizes that adults will respond differently to the same baby depending on how the child is dressed. Her colleague, on the other hand, hypothesizes that boys and girls are treated equally and that only temperamental differences lead to differences in their handling. Design a research study to test their hypotheses. Your response should be at least 200 words in length. You are required to use at least your textbook as source material for your response. All sources used, including the textbook, must be referenced; paraphrased and quoted material must have accompanying citations. Wade, C., Tavris, C., & Garry, M. (2014). Psychology (11th ed.). Upper Saddle River, NJ: Pearson Education. Must be done in APA format
ONE PAGE /275 WORDS ONE SOURCE BOOK REFERENCE
[1/29/16, 11:29 AM] josphat mungai (
[email protected]
):
Author: R.A. Noe
Employee training and development (6th ed.). New York, NY: McGraw-Hill
Put to the test: as genetic screening gets cheaper and easier, it's raising questions that health-care providers aren't prepared to answer
The American Prospect, November 2010
When my children were born in the mid-1990s, new parents could already see that prenatal genetic testing was altering the terrain of pregnancy and childbirth. Growing numbers of educated women were having children at older ages, with resulting difficulties and risks. More and more parents faced challenging, deeply personal decisions about whether to engage in genetic testing and what to do if they received unfavorable results.
I remember my own anxieties when my wife, Veronica, took a blood test that searched for elevated alpha-fetoproteins, which are associated with diverse ailments ranging from spina bifida to anencephaly. The mere prospect of these rare conditions--and even the choice to undergo the tests--was surprisingly painful. At least genetic counselors and other professionals were available to help guide us.
By that point, amniocentesis had been in wide use for more than t.
The importance of prenatal genetic screeningTia-Nia Drayton.docxoreo10
The importance of prenatal genetic screening
Tia-Nia Drayton
Institution:
Date:
Prenatal genetic testing is a medical procedure that allows the pregnant mother to determine her chances of giving birth to a baby with a genetic disorder. The genetic disorders are usually as a result of abnormalities in the chromosome components leading to conditions such as Downs Syndrome Trisomy and Trisomy-8. This procedure informs the actions of the mother to be, in case the fetus is found with any deformity which can vary severity. The problem, however, is that prenatal genetic testing has faced a myriad of ethical and moral debates with individuals arguing that they tend to be invasive and also add emotional burden to the expectant mother. Therefore, the purpose of this paper is to highlight the importance of prenatal testing due to the evidence-based benefits associated with it. Prenatal testing is critical for every mother, more so, the high-risk cases, because it places them a better position to handle any issue, besides advancements in science and technology, have made the risks negligible.
The benefits of prenatal genetic testing
Advanced age adds a significant risk to the reproductive status of a woman. In this context, as a woman reaches her menopausal stage (35 years or older), the likelihood of giving birth to an infant with chromosomal disorders increases. In case a woman at this age range falls pregnant, undertaking a prenatal genetic testing will be very useful in determining the condition of the fetus. It also further informs the action that will be taken by the mother after the test results indicate a disorder. It also allows the parents to be emotionally and financially prepared to handle the caring of the infant should the pregnancy be allowed to advance. However, the downside is that this has propagated termination of pregnancies. According to Mansfield et al. (1999), it was found that termination rates increased by, for instance, 92 % after a prenatal diagnosis of Down syndrome.
The parents have more say in the kind of testing they would like to undertake. Today advancements have been made in genetic testing which offers a wide variety genetic markers. Depending on the preferences of the parents, they can choose the markers which indicate the conditions which their pre-born infants will be predisposed. This also protects the privacy of the parents from scrutiny. Jong et al.(2016) highlights the current advancements which are available to pregnant mothers which include: a)Rapid aneuploidy detection, this is found in developed countries and is used to identify any abnormalities with microscopically visible chromosomes including numerical or structural status, deletions, and duplications; b)prenatal ultrasound, this is performed during the second trimester and allows the physician to identifies any abnormalities in the fetus’ structure but also any other genetic disorders; c)genome-wide molecular testing, this t ...
Running head DISCUSSION POST 1 Chapter 20 .docxtoddr4
Running head: DISCUSSION POST 1
Chapter 20: Cervical Cancer Screening and Diagnosis
Anita Opdycke
Regis College
Pathophysiology NURS 606
Terri Kanner
May 12, 2020
DISCUSSION POST 2
Chapter 20: Cervical Cancer Screening and Diagnosis
Diagnostic testing is important in early detection of cancer (Hubert & VanMeter, 2018).
Hubert & VanMeter (2018), state that the examination of tumor cells is the only definitive
method to diagnose cancer cells. Other tests should be used in conjunction with cytologic tests
and to monitor treatment and follow up after a diagnosis is made (Hubert & VanMeter, 2018).
Cytologic testing, are used to screen individuals as high risk, to make a diagnosis, and to follow a
clinical plan of care or monitor (Hubert & VanMeter, 2018). To make a diagnosis, clinicians use
histologic and cytologic examinations to gather cells that are sent to a lab for further examination
(Hubert & VanMeter, 2018). In some cases, biopsies are retrieved and in other cases exfoliative
cytology is used to make a dependable confirmation of malignancy (Hubert & VanMeter, 2018).
For all tests, good technique and preservation of the sample is key in obtaining an accurate
evaluation (Hubert & VanMeter, 2018). The Papanicolaou (Pap) test is the standard of care for
screening, evaluating and diagnosing cervical cell changes that can lead to cervical cancer
(Hubert & VanMeter, 2018).
Cervical dysplasia, or atypical glandular cells on cervical cytology, are categorized based
on the degree of cellular change (Goodman & Huh, 2020). The three main categories of cervical
intraepithelial lesions (CIN) include: CIN-1 or lesser abnormalities, CIN 2 and CIN 3 (Goodman
& Huh, 2020). CIN-1 or lesser abnormalities includes atypical cells of undetermined significance
(AS-CUS) and low grade squamous intraepithelial lesions (LSIL) with HPV 16 or 18 infection,
or persistent HPV infection (Goodman & Huh, 2020). Low grade CIN has a low potential to
progress to malignancy (cancer) but high grade CIN has a high potential to develop into cancer
(Goodman & Huh, 2020). The Pap test has significantly contributed to the decrease in invasive
cervical cancer incidence however every year there are 12, 000 new cases of invasive cervical
DISCUSSION POST 3
cancer are diagnosed in the U.S (Zhao, et al., 2014). Zhao, et al. (2014) explored Factors
Associated with Reduced Accuracy in Papanicolaou Tests With Invasive Cervical Cancer in an
effort to highlight the importance of accurate interpretation of screening tests.
The study, Factors Associated with Reduced Accuracy in Papanicolaou Tests With
Invasive Cervical Cancer, was published in Cancer Cytopathology on May, 28, 2014. The
authors, Lichao Zhao, Nicolas Wentzensen, Roy Zhang, Terence Dunn, Michael Gold, Sophia
Want, Mark Schiffman, Joan Walker and Rosemary Zuna conducted research to explore and
evaluate the limiting fact.
Trying to show some ethics about clinical genetics... There are many peoples in our society who believes about the natural process but they do not want to accept the works of the bio technologist and also about the mutational process. but as a bio technologist, we know that this process can be done by us in many ways. but general people do not want to accept our works..here are some ethics about the clinical genetics...
The Importance of Community Nursing Care.pdfAD Healthcare
NDIS and Community 24/7 Nursing Care is a specific type of support that may be provided under the NDIS for individuals with complex medical needs who require ongoing nursing care in a community setting, such as their home or a supported accommodation facility.
This document is designed as an introductory to medical students,nursing students,midwives or other healthcare trainees to improve their understanding about how health system in Sri Lanka cares children health.
Medical Technology Tackles New Health Care Demand - Research Report - March 2...pchutichetpong
M Capital Group (“MCG”) predicts that with, against, despite, and even without the global pandemic, the medical technology (MedTech) industry shows signs of continuous healthy growth, driven by smaller, faster, and cheaper devices, growing demand for home-based applications, technological innovation, strategic acquisitions, investments, and SPAC listings. MCG predicts that this should reflects itself in annual growth of over 6%, well beyond 2028.
According to Chris Mouchabhani, Managing Partner at M Capital Group, “Despite all economic scenarios that one may consider, beyond overall economic shocks, medical technology should remain one of the most promising and robust sectors over the short to medium term and well beyond 2028.”
There is a movement towards home-based care for the elderly, next generation scanning and MRI devices, wearable technology, artificial intelligence incorporation, and online connectivity. Experts also see a focus on predictive, preventive, personalized, participatory, and precision medicine, with rising levels of integration of home care and technological innovation.
The average cost of treatment has been rising across the board, creating additional financial burdens to governments, healthcare providers and insurance companies. According to MCG, cost-per-inpatient-stay in the United States alone rose on average annually by over 13% between 2014 to 2021, leading MedTech to focus research efforts on optimized medical equipment at lower price points, whilst emphasizing portability and ease of use. Namely, 46% of the 1,008 medical technology companies in the 2021 MedTech Innovator (“MTI”) database are focusing on prevention, wellness, detection, or diagnosis, signaling a clear push for preventive care to also tackle costs.
In addition, there has also been a lasting impact on consumer and medical demand for home care, supported by the pandemic. Lockdowns, closure of care facilities, and healthcare systems subjected to capacity pressure, accelerated demand away from traditional inpatient care. Now, outpatient care solutions are driving industry production, with nearly 70% of recent diagnostics start-up companies producing products in areas such as ambulatory clinics, at-home care, and self-administered diagnostics.
Empowering ACOs: Leveraging Quality Management Tools for MIPS and BeyondHealth Catalyst
Join us as we delve into the crucial realm of quality reporting for MSSP (Medicare Shared Savings Program) Accountable Care Organizations (ACOs).
In this session, we will explore how a robust quality management solution can empower your organization to meet regulatory requirements and improve processes for MIPS reporting and internal quality programs. Learn how our MeasureAble application enables compliance and fosters continuous improvement.
COVID-19 PCR tests remain a critical component of safe and responsible travel in 2024. They ensure compliance with international travel regulations, help detect and control the spread of new variants, protect vulnerable populations, and provide peace of mind. As we continue to navigate the complexities of global travel during the pandemic, PCR testing stands as a key measure to keep everyone safe and healthy. Whether you are planning a business trip, a family vacation, or an international adventure, incorporating PCR testing into your travel plans is a prudent and necessary step. Visit us at https://www.globaltravelclinics.com/
CHAPTER 1 SEMESTER V PREVENTIVE-PEDIATRICS.pdfSachin Sharma
This content provides an overview of preventive pediatrics. It defines preventive pediatrics as preventing disease and promoting children's physical, mental, and social well-being to achieve positive health. It discusses antenatal, postnatal, and social preventive pediatrics. It also covers various child health programs like immunization, breastfeeding, ICDS, and the roles of organizations like WHO, UNICEF, and nurses in preventive pediatrics.
Cold Sores: Causes, Treatments, and Prevention Strategies | The Lifesciences ...The Lifesciences Magazine
Cold Sores, medically known as herpes labialis, are caused by the herpes simplex virus (HSV). HSV-1 is primarily responsible for cold sores, although HSV-2 can also contribute in some cases.
Fetal screening and selection medical dogma or parental preference
1. Fetal Screening and Selection: Medical
Dogma or Parental Preference?
Katharine B. Perry Box #1968
2. Perry 1
In a study published in 2012, researchers from Northwestern University Feinberg School
of Medicine found that at least 3% of all pregnancies are complicated by fetal abnormality, of
which, approximately 80% were selectively terminated (Gawron 109). Many reflecting on this
statistic will experience little to no alarm: after all, the decision to continue or terminate a
pregnancy is a woman’s prerogative. If patients knowingly and willingly select against an
abnormal fetus, then little more can be said on the subject. Recent literature, however, suggests
the issue may be far more complex. In addition to the ethically dubious practice of targeting for
termination certain fetuses on the basis of genetically determined traits – a practice frequently
denounced as discriminatory – many have questioned whether or not women’s decisions in these
situations are arrived at autonomously or if there are not other external forces at play.
Researchers have demonstrated that doctors’ and physicians’ attitudes regarding disability differ
greatly from those of the patients they serve (Asch, 2002) and have further observed that patients
and medical practitioners have fundamentally different goals, purposes, values, and
understandings regarding fetal testing (Hunt 302). Were not this topic so charged with
controversy, one need not be overly concerned by these discrepancies in opinion. But in the case
of fetal screening and selection, medical opinion has far more serious implications. In practicing
fetal screening and selection, the medical community’s disparaging and biased attitude towards
the disability experience poses a significant threat to the decision making autonomy of expectant
parents as it (medical opinion) stands in the way of patients’ rights to give informed consent as it
leads to coercive or directive medical attitudes.
Before demonstrating the potentially dangerous medical attitudes associated with fetal
screening and selection (hereafter referred to as FSS), it is important first to look more closely at
the actual implementation of prenatal genetic testing in the medical field. Brief examination will
3. Perry 2
also be given to the rates and instances of selective abortion against fetuses displaying genetic
disposition towards disability, after which the discussion will turn to medical attitudes regarding
FSS and the disability experience and, finally, how these attitudes – and their resultant actions –
limit the decision making autonomy of expectant women.
“Prenatal Testing” is a general term for any one of the various ways in which healthcare
providers monitor the health of a fetus. Some tests (such as ultrasonography) are preformed
routinely throughout the pregnancy, regardless of the mother’s age or degree of gestational
development, and “provide information she may use to guide her care throughout pregnancy”
(Asch 22). Other tests do not influence the woman’s care during gestation, but provide
information intended to help her decide whether to continue the pregnancy if fetal impairment –
whether genetic or physical – is detected (Asch 23). Depending on the woman’s gestational age,
different testing options are available. The range of fetal abnormalities detectable by prenatal
genetic and physical scanning also varies according to gestational age. Ultrasound screening, for
instance, is normally available to women early in the first trimester of pregnancy and is used to
monitor fetal growth and detect physically distinctive anomalies. However, neural tube defects,
such as anencephaly, cannot be reliably diagnosed using ultrasound until well into the second
trimester (Ring-Cassidy 157). Similarly, amniocentesis, which detects the greatest variety of fetal
impairments, is not typically offered to women under 35 years of age, nor is it generally
available before 20 weeks gestation, with results not available until 3 weeks later (Asch 3, Ring-
Cassidy 158).
Advances in medical technology are continuously making prenatal testing safer, more
accurate, and more widely available. In 1997, researchers learned that fetal DNA crossed the
lining of the placenta and could be found floating in the mother’s bloodstream (Rebouché 229).
4. Perry 3
This allowed clinicians to develop non-invasive methods of testing as an alternative to
amniocentesis and Chorionic Villi Sampling, which, although accurate in detecting genetic
abnormalities, carry with them the risk of miscarriage (Boss 146). For example, in 2012
Sequenom Inc., a company devoted to the development of medical diagnostic products, released
MaterniT21, a new clinical test for Down syndrome (PR Newswire, 2012). The non-invasive,
DNA-based test required only a maternal blood sample, taken as early as 10 weeks gestation, and
identified 99.1% of cases of Down syndrome (in a test involving thousands of pregnant woman),
and “gave the correct result in 99.9% of cases when the fetus did not have Down syndrome”
(Kaposy 299).
As fetal genetic information has become more readily available, the rate of selective
termination of pregnancy has likewise increased. In his article, “A Disability Critique of the New
Prenatal Test for Down Syndrome”, published by the Johns Hopkins University Press, Chris
Kaposy reviewed several recent pieces of scientific literature exploring the abortion rates in
pregnancies after a positive diagnosis of Down syndrome or other genetic diseases (Kaposy,
2013). Kaposy found that, within the US population, women “terminate[d] their pregnancies 60-
90% of the time when prenatal tests diagnose[d] their fetuses as having Down syndrome”
(Kaposy 300). Lori Gawron likewise found that approximately 80% of pregnancies are
terminated after a positive diagnosis for Down syndrome (Gawron 109).
Upon initial reflection, the statistics discussed above may not seem to warrant further
consideration as prenatal testing offers parents valuable information about the health of their
child – information that they can use to make an informed decision regarding the future of their
pregnancy. Unfortunately, parental decisions to abort abnormal fetuses are not generally made
with the objectivity and independence that the statistics imply. It is the purpose of this paper to
5. Perry 4
demonstrate that considerably more is at play. On examining the discrepancies between medical
and lay opinions concerning FSS, one finds that in the emotionally charged setting of genetic
counseling, parents’ autonomy is significantly threatened by the opinions of their medical
advisors.
It is not difficult to find evidence demonstrating the varying degrees of acceptance with
which medical personal and lay people regard FSS. In his article, “Medical Disparagement of the
Disability Experience”, David Klein surveyed various studies on Western medical systems and
found that “clinicians generally possess very different attitudes toward prenatal screening than
their patients” (Klein 9). He found that when considering a number of different fetal
abnormalities, practitioners show a “greater inclination to fetal selection relative to their
patients’” (Klein 9). Klein examined a 2008 study in which care providers and patients were
polled on the acceptability of termination in situations where a predisposition to severe mental
disability was discovered. Most viewed it favorably: 69% of patients saw termination as
acceptable, while a staggering 97% of physicians were in favor (Klein 10). On reviewing other
literature, Klein found that “in cases [where] very low quality of life” was expected (due to
conditions such as deafness or blindness), physicians were two times more likely than patients to
view selective termination favorably. Similarly, medical practitioners were 2.35 times more
likely than patients to accept selective termination indiscriminately in every case, regardless of
the severity of the disability.
Other researchers corroborate Klein’s findings. In her study of attitudes towards FSS in
the U.S., conducted in 2000, Dorothy Wertz found notable differences in inclination to terminate
between patients and medical practitioners. She found that 80% of genetics professionals, 62%
of primary care physicians, and only 36% of patients claimed they would terminate a pregnancy
6. Perry 5
after a positive diagnosis for Down syndrome (Wertz, 2000). Similarly, 57%, 29%, and 24%,
respectively, would terminate a pregnancy in the case of achondroplasia, a condition leading to
“dwarfism”. She further found that after a diagnosis of XXY syndrome, which often leads to
cognitive disabilities, 49%, 48%, and 22% would terminate. It is important to note that in her
research Wertz was merely asking participants if they would, in a hypothetical situation, chose to
terminate. Thus her statistics demonstrate only a difference in opinion, not in actual practice.
Still, her work shows clearly that the medical community is largely more accepting of FSS than
their patients are.
There are several possible explanations for why the medical community looks more
favorably on FSS. But by far the most compelling is that proposed by Adrienne Asch, who
suggests that the over medicalization of the disability experience within the healthcare
community has lead them to seek to prevent the perceived suffering associated with that
experience by any means necessary (Parents and Asch, 1999). Her position is too complex to
examine in much detail here, but the crux of her argument is that those living with disabilities (as
well as their friends and families) view that disability as only one facet of an individual’s entire
being, while the medical community tends to see the disability as the defining characteristic of
that person and to view their life as forever disrupted. It is this limiting paradigm of disability
that informs medical utilization of FSS and genetic counseling.
Others have argued against Asch, claiming that higher rates of favorability towards FSS
within the medical community reflect the professionals’ concerns that women should have the
right to govern their own bodies. In this scenario, despite the difference between patient and
physician pre-disposition for termination, the professional’s concern to support and maintain
“patient self-determination and autonomy” (Klein 10) should result in rates of termination that
7. Perry 6
align most closely with patient preferences. Were this the case, one would not expect to see any
correlation between medical preference and actual termination practices. However, as Alicia
Ouellette, a professor of Law and Bioethics at Albany Law School and Union Graduate College,
points out, the rate of termination after a positive diagnosis more closely reflects the expressed
opinions of the medical community than it does that of the patients whom that community serves
(Ouellette 212). To demonstrate this, one need only recall the above-mentioned research by Chis
Kaposy and compare it with that of Dorothy Wertz. According to Wertz, only 36% of patients
said they would prefer to terminate in the event of a positive diagnosis for Down syndrome. But,
as Kaposy found, in actual practice the rate of termination in cases of Down syndrome was
between 60 and 90%, numbers that are far more comparable to the expressed opinions of the
medical community. So, the expressed opinions and preferences of the medical and lay
communities differ greatly, but in actual practice it seems that the opinions of medical
professionals are given precedence. This poses a serious threat to the decision making autonomy
of expectant parents who are often unable to give informed consent and who may even
experience coercion.
The first obstacle in the way of parental autonomy is closely tied to the question of
informed consent. Are parents being given adequate information to enable them to make a
decision that is both based on sound medical principle and in line with their own preferences and
values? Generally defined, informed consent is “the process by which the treating health care
provider discloses appropriate information to a competent patient so that the patient may make a
voluntary choice to accept or refuse treatment” and “originates from the legal and ethical right
the patient has to direct what happens to her body and from the ethical duty of the physician to
involve the patient in her health care” (De Bord, 2014). In order for a patient to practice this
8. Perry 7
right, care providers must be honest about the nature and purpose of the testing procedure in
question and provide the patient with information regarding any available alternatives. This does
not generally happen in the case of FSS and genetic counseling. There are three general areas in
which patients are not given enough information regarding FSS to practice informed consent: the
purpose of testing, the necessity of the testing, and the risks associated with testing.
The first subject that must be addressed with regard to informed consent is that of the
purpose of prenatal testing. Medical professionals and patients alike agree that the overall
purpose of prenatal care is, obviously, to ensure a healthy pregnancy (Hunt, 2005). But beyond
this they disagree, especially with regard to the practice of FSS. Clinicians and patients have
drastically different understandings of the nature and purpose of prenatal screening. In general,
clinicians’ purposes in conducting prenatal tests are “identifying and controlling
pathophysiology” while their patients are generally most concerned “with protecting and
nurturing their pregnancies” (Hunt 302). By “controlling pathophysiology” it is understood that
Hunt is referring to the clinical objective of detecting and eradicating “abnormal” fetuses
(Dormandy, 2006), a goal in direct opposition to the parental desire to “protect” and “nurture”
their future children. So, when parents agree to undergo prenatal testing, they may believe the
test is for one specific purpose, all the while not knowing that their care providers are working
towards very different ends. As Klein succinctly puts it, “the implications of testing, which may
include termination of the pregnancy, are often poorly explored with practitioners and
counselors” (Klein 9). In Lori Gawron’s study of women who had undergone selective abortion
after genetic testing, she found that the “women repetitively stated that they were not ready for
bad news” (Gawron 111). So, while women were advised to undergo testing, they did so with
9. Perry 8
little knowledge of the potential results. Thus, in many cases, clinicians carrying out prenatal
tests are doing so with only the ill-informed consent of their patients.
Next, while still considering informed consent, patients are not being given accurate
information regarding the necessity of intensive prenatal testing. Largely due to the ethical
controversy surrounding prenatal screening, there is little consensus within the medical
community as to how much testing is necessary to constitute wholesome prenatal care. But
parents are seldom privy to this debate, instead being given to understand that such testing is a
“natural extension of maternal obligation” (Klein 9). Thus, patients are often unable to exercise
their right to practice informed consent on the most basic level of determining for themselves
whether or not testing is even necessary for the health of mother and child.
Lastly, the patient’s right to exercise informed consent is violated when parents are not
given information concerning the risks associated with certain testing procedures. While 74% of
clinical counselors and 57% of patients were familiar with the risks associated with genetic
testing (Hunt 308), researchers found that patients and clinicians felt very differently about this
information. Hunt found that women would rather delay testing until 17 weeks with a 1% chance
of miscarriage than receive testing at 10 weeks with a 3% risk of miscarriage, while physicians
had the opposite preference (Hunt 306). Reflecting on this, Klein observed that “in pursuing
testing, women were generally more focused on protecting the pregnancy…than on the more
clinical objective of early detection and control” (Klein 10) while clinicians are more anxious to
procure accurate test results, risking the wellbeing of the fetus.
Yet women often feel pressured to undergo early gestational tests with little information
regarding possible alternatives. Hunt found that only 78% of clinicians informed patients that
these invasive tests were optional, and that only 46% offered patients information on alternative,
10. Perry 9
safer methods of testing (Hunt 308). So, without full understanding of the risks associated with
testing, parents must blindly give consent without knowing that safer options are available.
It has been shown above how medical attitudes regarding FSS may hinder a patient’s
right to exercise informed consent. It is now to been seen how these same attitudes may
constitute coercion of patients.
“Coercion” is, of course, a very strong word. Few would be so bold as to claim than
women are routinely, if ever, “forced” into testing or termination against their will. On the other
hand, a medical community which is unduly “directive” in their patients’ decision making
processes is rightly called “coercive”. Indeed, women themselves have used language of “feeling
forced”, so the following discussion will reflect that language.
Prenatal care and FSS are, of course, extremely technical disciplines about which patients
are significantly less knowledgeable than are their care providers. It is natural, therefore, for care
providers to have some role in the decision making process of their patients. Given their lack of
expertise, and the level of trust which people are accustomed to put in medical professionals, it
can be very difficult for patients to go against to advice of their medical advisors. It therefore
falls to the medical community to be open and unbiased in the advice they provide to their
patients. The argument made here is that in being overly directive – that is, in providing
information in a biased manner, pushing patients in one direction rather than the other – medical
professionals, whether inadvertently or not, exercise a certain degree of coercion over their
patients.
While medical professionals may view extensive prenatal testing favorably, those
studying women’s reproductive experiences find that “women do not uniformly welcome the
expectation that they will undergo prenatal testing or the prospect of making decisions depending
11. Perry 10
on the test results” (Alper 124). Yet, as Alicia Ouellette reports, “decisions to avoid screening or
to give birth to a child with disabilities may meet some resistance … in the healthcare setting”
(Ouellette 212). So, although many women are uncomfortable with genetic testing, they often
meet resistance from their care providers when they express the wish to forego such testing. In a
study of women’s evaluations of their care providers, Dr. Brian Skotko, a Board-certified
medical geneticist and Co-Director of the Down Syndrome Program at Massachusetts General
Hospital, offered the following quote as typical of women reflecting their experiences in
choosing to undergo testing: “I felt pressured by my physician to have an amniocentesis”
(Skotko, Editor’s 673). Aware of their own inferior knowledge of the subject, it is difficult for
patients to refuse testing when advised to do otherwise by their doctors.
In this way patients face coercion in making decisions about testing. However, it is after a
positive diagnosis that patients’ autonomy is truly threatened. In reviewing a 2008 study by
Mishori Dery and colleagues, Klein observed that levels of indecision among patients about FSS
options after a positive diagnosis ranged from about 15% to 30%, while indecision among care
providers was never greater than 8.8% (Klein, 2011). Thus, patients are likely to “require
decisional support” (Klein 11). This is where women face the greatest risk of coercion. In her
study of 499 primary care physicians in the U.S., Wertz reported that 36% admitted to attempting
to direct women to make one decision or another regarding the termination of pregnancy (Wertz,
2000). Skotko reported that a “minor but substantial proportion of women perceived coercive
behaviors aimed at effecting the termination of a diagnosed fetus” (Klein 11).
These coercive behaviors were primarily manifested in the biased manner in which the
diagnosis was presented and in the way the prognosis was given regarding the child’s future
quality of life. For instance, after discovering abnormalities in a pregnancy, women may be lead
12. Perry 11
to believe that their pregnancy is no longer viable or their child unlikely to survive. Hunt and
colleagues found that “after hearing unexpected news, participants stated that they felt forced to
make the mental shift from a normal pregnancy, to having little hope for pregnancy
continuation” (Hunt 111). All of the women Hunt interviewed went on to choose abortion.
Similarly, in an article published by the Social Science and Medicine journal, researchers found
that clinicians frame the discussion of available services in a way that promotes compliance with
FSS services and which may not be compatible with the preferences of the patients (Klein, 2011;
Press and Browner, 1997). For example, in cases where Down syndrome or severe spina bifida
were diagnosed, clinicians were more likely to present patients with a negative perspective on
the realities of raising a child with disabilities, encouraging them to choose termination over
continuation of the pregnancy (Skotko, Mothers, 2005). Dorothy Wertz found that after a
positive diagnosis of Down syndrome, achondroplasia, or XXY syndrome, between 48% and
80% of care providers would recommend termination (Wertz, 2000), even though each of these
conditions is “entirely conducive to living a long, satisfying life” (Klein 10). These studies
corroborate the previously mentioned reports from mothers who felt pressured or distressed
when discussing FSS services.
In conclusion, while it is by no means unexpected that medical and lay persons should
operate within contrasting paradigms of disability, the medical bias against disability is given an
undue degree of precedence in the decision making processes concerning a patient’s prenatal
care. Physicians’ preferences are given priority in FSS practices at the expense of the patient’s
decision-making autonomy. Medical dogma against disability reduces the patient’s ability to give
their informed consent within a clinical setting and has led to a coercive atmosphere in which
patients feel unable to assert themselves or make decisions based on their own values or
13. Perry 12
preferences. In light of this, one cannot help but wonder: if 80% of “abnormal” pregnancies are
terminated, in what percentage of these cases was the decision to terminate actually made freely
by the parents, and how often was it the product of medical coercion or dogma?
14. Perry 13
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Society. 106-28.: Baltimore, Md.: Johns Hopkins University Press, 2002. Print.
2. Asch, Adrienne. “Prenatal Diagnosis and Selective Abortion.” The Double-Edged Helix:
Social Implications of Genetics in a Diverse Society. n.p.: Baltimore, Md.: Johns
Hopkins University Press, 2002. Print.
3. Boss, Judith A. "First Trimester Prenatal Diagnosis: Earlier Is Not Necessarily
Better." Journal of Medical Ethics 1994: 146. JSTOR Journals. Web. 11 Feb.
2016.
4. De Bord, Jessica, DDS. "Informed Consent." Ethics in Medicine. University of
Washington School of Medicine, 7 Mar. 2014. Web. 11 Feb. 2016.
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A Cluster-Randomized Trial Of Combined Versus Separate Visit
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Traumatic In Prenatal Genetic Diagnosis: Does Clinical Information Inform
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8. Kaposy, Chris. "A Disability Critique of the New Prenatal Test for Down
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324. Philosopher's Index. Web. 28 Jan. 2016.
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15. Perry 14
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Continued Their Pregnancies Evaluate Their Health Care Providers." American
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