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Screening tests for genetic issues can be performed in the first trimester, seco

ID: 243438 • Letter: S

Question

Screening tests for genetic issues can be performed in the first trimester, second trimester or both trimesters. Carrier testing is also an option performed prior to or during pregnancy. Carrier testing provides information as to whether one or both parents are carriers for certain inherited disorders. The results of these tests are used to determine an appropriate plan of care for the patient.

Genetic testing of the fetus and the parents offers both opportunities and ethical challenges. As a Registered Nurse, you need to be aware of your own feelings to provide non-biased professional support.

Compose a response to the following:

Implications of genetic testing and the role of the registered nurse in providing support to a couple seeking guidance. Provide one example of how genetic testing is used in the reproductive (preconception, conception, pregnancy) setting.

Consider if the registered nurse has the right to refuse to care for patients who choose termination of pregnancy based on genetic testing when it conflicts with the ethics and values of the nurse.

Discuss how medical, economic, or psychosocial issues might impact decision making relative to genetic testing.

Explanation / Answer

Prenatal screening tests: These tests can tell you Whether your fetus has an aneuploidy and a few additonal disorders.This FAQ focuses on these tests.

A number of tests are suggested for all women during prenatal care. Some of these tests are performed on samples of your blood and urine and cells from your cervix and vagina. You also will be tested for infections such as sexually transmitted diseases (STDs). The results of these tests are used to check for potential problems for you and your baby. If found, many problems can be treated during pregnancy Some tests are done to see if you or your baby is at risk of certain problems. These are called screening tests. They may be offered based on your age, history, or ethnic background Other tests are done to find problems that may occur during your pregnancy. These are called diagnostic tests. They may be offered based on your medical history, family background, ethnic group, or results of other tests.


Pregnancy screening as we probably aware is carried out to know the advancement of exact pre-natal diagnosis. Techniques to safely acquire fetal tissue and lab tests that could precisely analyze particular conditions in the hatchling have been accessible since the mid 1970's. The such test, amniocentesis, was basically offered to women over age 35 at conveyance to analyze chromosome variations from the norm in the baby and to those in families at hazard for conditions that were amiable to pre-birth analysis

sometimes when the women age is above 30 then its is advised by the doctor itself for the genetic test to check any genetic abnormalities in the fetus, because when women conceive after 3 there are more chance of chromosomal abnormalities, hence it is advisable to go for genetic testing.

In my opinion, the nurse has the right to refuse to the termination of pregnancy based on genetic testing when it conflicts with the ethics and values of the nurse. For example in some south Asian countries, couple uses such prenatal test to check their fetus sex that is completely unethical. In such cases, nurses have the authority to refuse to terminate the pregnancy

Medical, economic or psychosocial issues might impact decision making relative to

genetic testing:

Medical issues - Tests that offer children the potential for helpful advantage are well on the way to be upheld by general society and by restorative experts. For instance, testing for familial hypertrophic cardio myopathy, an ailment connected with expanded hazard for sudden demise, permits tranquilize treatment to forestall arrhythmias

Genetic testing can distinguish patients with an expanded vulnerability to illness The recognizable proof of qualities connected with malignancy may provoke reconnaissance to distinguish pre-symptomatic tumor. For a few issue, for example, retinoblastoma, observing is connected with successful treatment.

Genetic testing may give clarification of a questionable finding if indicative information from different sources are uncertain, or if elucidations of demonstrative information are constrained by the affectability of different assessments. DNA studies are presently helpful in affirming an analysis of delicate X, in light of the fact that customary cytogenetic studies may yield abiguous results.

Economic Issue - Economic issue are also sometime affects the decision of genetic testing because there test are very costly and cannot afford by each and every couple. So few couples ignore such testing, inspire of knowing its importance

Psvchosocial issue :

A noteworthy psychosocial advantage of genetic testing is determination of instability. Information from grown-ups at hazard for Huntington sickness affirmed a lessening of uneasiness, both in people controlled by linkage examination not to be at hazard and in those observed to be at expanded hazard while minimal decrease of tension happened in the individuals who had uncertain test outcome

Pre-symptomatic determination in children likewise can possibly adjust the connections that exist amongst parents and their siblings

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