How Prenatal Medicine Will Change in the Next 10 Years - Research Paper Example

Advantages and Disadvantages of Screening in Fetal and Maternal Medicine How Prenatal Medicine will Change in the Next 10 Years? Introduction: Congenital anomalies are a major challenge in the modern world which affect parents, medical professionals and the entire human race as a whole. Studies show that this problem causes “20.0 to 25.0% of perinatal deaths, while 3.0% of children are born with malformations of varying size”1 Screening tests are conducted for assessing the risks related to pregnancy and fetus health. It is considered that women are at the risk of having babies with chromosomal abnormalities, “the most common being Down syndrome,”2 the risk of which increases with the age of the mother. In order to develop strategies for the detection of anomalies and devising appropriate solutions for countering the problems, scientists have been conducting several researches in the past. In recent years, such endeavours have fetched remarkable progress and modern medical science offers ways and means through different screening tests to identify the anomalies in order to take necessary steps that can counter them. Pregnant women in the present day have a variety of screening tests available for enabling the detection of problems like gene disorders, abnormalities in the chromosome and other kinds of birth defects that occur in infants. Besides, ethnicity-based screening tests are available for the detection of single gene disorders such as “Tay Sachs disease, cystic fibrosis, and hemoglobinopathies”3 This study also denotes that apart from “additional disorders that warrant screening” and involve recent focus on “re-evaluation of the paradigm of selecting disorders for population based screening”4 Another major development in this field is the first-trimester screening, which has been introduced to test chromosomal abnormalities besides the attempts to enhance the quality of “detection through sequential screening”5 Prenatal Genetic Testing offers a platform for assessing whether the fetus has any mutations either inherited through parent or developed de novo. This also offers an avenue for measuring allelic balance or chromosome dosage. Such tests are also used to determine the sex of the fetus as well as to facilitate blood group typing. There are two types of prenatal testing used to detect potential fetal abnormalities: screening tests and diagnostic tests”6 These two types of tests are extremely beneficial to detect any kind of birth defect that a baby might have. If primary screening tests demonstrate the baby could be in danger of acquiring some kind of birth defect, then the parents may make a decision to have a more invasive diagnostic test, for example, amniocentesis. “Amniocentesis, a test that involves analyzing the babys DNA from an amniotic fluid sample, is the most accurate prenatal test for these serious conditions in the baby”7 The occurrence of Down syndrome and various other kinds of chromosomal problems are seen to increase as a mother ages. An incorporated screening test shows that about 94 % children are born with “Down syndrome” Advantages of Screening in Fetal and Maternal Medicine: a) Down Syndrome: Down’s syndrome is a major cause of concern for pregnant women and their families as well as the medical fraternity as a whole. This genetic disorder, first recognized by Dr John Langdon Down in 1866 as “a distinct condition,” hampers the normal growth of a child and can cause “moderate to severe learning difficulties”8 in him or her. This condition, which develops when an infant is still in the mother’s womb, lasts for his or her lifetime. Studies further indicate that such a child stands to be affected by other problems that may be fatal, such as “congenital heart diseases,” ailments relating to eyes and ears, “Alzheimer’s disease” etc. Though medical science it yet to pin point the causes of Down’s syndrome, evidence suggests that “the single biggest risk factor for the condition seems to be the age at which women gives birth”9 Therefore, monitoring women who are under the category of that age group can be instrumental in identifying the problems in them. Under the circumstances, it becomes highly significant that some kind of testing should be made available to pregnant women, so as to enable them to properly diagnose the issues before hand. This would ensure that appropriate remedial measures are taken. Screening in fetal and maternal medicine will definitely help the prospective parents and medical professionals in addressing this problem to a great extent. Down syndrome testing helps to discover and predict certain types of diseases “Downs Syndrome is one genetic disorder which has been studied for a number of years but there are a number of others including Huntington’s disease, sex-related disorders and others”10 In Down Syndrome screening tests, for example, ultrasound may not be diagnostic or investigative in itself but it can assist in recognizing such patients who are at maximum risk and persuade them to opt for genetic amniocentesis. b) The main advantage of prenatal screening is that it facilitates early detection of risk involved in pregnancies. Anomalies such as fetal aneuploidy and anatomic defects such as cardiac anomalies can be identified through this test. A study, conducted by Deborah A Driscoll and Susan J Gross, finds that it also offers a possibility of “earlier diagnosis by chorionic villus sampling, if available”11 When optimally carried out and interpreted by specialists, ultrasound can "screen" the main defects and can also suggest the necessary diagnosis. For instance, a quality ultrasound by way of fetal anatomic study should be capable of recognizing virtually every case of neural tube and spina bifida defects, while AFP testing would be sufficient for a screening test. c) Prior diagnosis will enable women to improve their reproductive choices. Besides, it will facilitate a more accurate determination of the delivery date. Pregnancy symptoms differ from woman to woman. Therefore, analysis of screening the fetus helps to identify various problems and facts that will further allow women to enhance their reproductive choice. “Understanding the signs and symptoms of pregnancy is important because each symptom may be related to something other than pregnancy”12 d) Though the main objective of screening is ruling out Down syndrome, testing during the first trimester facilitates the identification of other problems such as Trisomy18. “A first-trimester screening test can reliably identify fetuses likely to be born with Down syndrome, providing expectant women with that information much earlier in a pregnancy than current testing allows”13 There are mainly two essential methods of screening for Downs syndrome, that are, the ultrasound scan and biochemical serum screening. Screening for Downs syndrome test will be recommended for women pregnant with a baby of 14 weeks + 2 days to 20 weeks. Downs syndrome is the most popular chromosomal defect and it can have a major impact on the family. That is why it is recommended for every pregnant woman, particularly those who have crossed 35 years, to go for screening. Older ladies are more likely to have an infant with Downs syndrome as compared to women younger than them. e) Tests such as ultrasound, in addition, facilitate “early detection of anatomic defects, particularly cardiac in origin”14 Ultrasound scans are screening tests used to detect birth defects, which show varying amounts of accurateness depending on the circumstance. It can also be a diagnostic instrument for detecting some birth disorders. “Ultrasound scans are non-invasive, and current evidence supports that they pose no threat to the baby”15 Every woman must have the choice of testing the invasive diagnostic problems related to fetal aneuploidy with CVS, if obtainable, or amniocentesis. The advantages consist of the diagnosis of every aneuploidy as well as huge chromosomal rearrangements. Advantages of first trimester screening consist of earlier recognition of pregnancy with danger of fetal aneuploidy and various types of anatomic defects, particularly, cardiac anomalies, and the choice of former diagnosis by chorionic villus sampling, if obtainable. f) Paternity testing is one of the major parts where genetic testing turns out to be more popular, as it is likely to demonstrate 99.99% accuracy in the father of a particular child who undergoes the course of genetic testing. Prenatal genetic testing, in this case, can help generate stronger bonds among the family, as the father will be guaranteed the status of fatherhood and that he can bond with the child and take duty for him or her. “Efficient screening programmes involve the kinds of scientific and statistical knowledge which raises standards in evidence based health service”16 g) Screening in Fetal and Maternal Medicine may also be done when the kid is newborn, or at any phase subsequent to that state. It is significant that the parents weigh the dangers or risks of prenatal genetic testing through improved relations from the start and possible fiscal advantages in terms of maintenance. “There are risks and benefits to these tests and it is an individual decision for each family whether to do any of these tests and which ones”17 Disadvantages of Screening in Fetal and Maternal Medicine: a) The element of risk of miscarriage is very high in invasive tests using amniocentesis or chorionic villus sampling (CVS) and, as such, these are usually undertaken only in cases that are “considered to be at high risk for aneuploidies”18 A miscarriage is a pregnancy that impulsively ends prior to the survival of the fetus. Any type of vaginal bleeding, except spotting, for the duration of early pregnancy is considered to be a miscarriage. Vaginal bleeding is normal in the early period of pregnancy. Nearly one out of each four pregnant women has bleeding for the duration of the first few months. About half of these ladies stop bleeding and end up in normal pregnancy. “Most pregnancies that involve chromosome abnormalities end in miscarriage during the first 12 weeks. If you have experienced a miscarriage due to a chromosome abnormality, it is still very possible to have a healthy child in the future”19 b) Cost Factor: Due to the scarcity of circulating fetal cells, it becomes an extremely costly affair to “isolate (it) from a sample of maternal blood”20 c) Time Factor: Due to problems relating to miscarriage, the process is also highly “time-consuming”21The medical world has not yet invented any universal cell makers to facilitate the separation or enrichment of nucleated fetal cells, which precludes them from “the use of these methods to obtain robust, reproducible results”22 The vast majority of pregnant couples walk into their primary prenatal ultrasound, more keyed up than being apprehensive regarding what the ultrasound may show. The primary ultrasound acts as a screening test for main abnormalities; “some of the potential problems that can be diagnosed are limb abnormalities, facial deformities or neural tube defects. Additional testing is usually needed to confirm or further diagnose a problem. Parents-to-be should be aware of the possibility of the discovery of something wrong while taking comfort in the fact that most pregnancies proceed without any problem”23 The process of distinguishing the genetic material of fetus from that of its mother is highly challenging. This difficulty occurs due to the reason that the fetus inherits 50 percent of its genetic traits from the maternal parent. Besides, studies also suggest that in order to isolate “DNA or RNA fragments of fetal origins” it becomes necessary to pinpoint “information or features of these nucleic acids that distinguishes them from their maternal counterparts”24 d) Ethical Considerations: One of the major disadvantages that may be caused as a result of Screening in Fetal and Maternal Medicine is abortion. Couples have the tendency to opt for abortion if the infant is the opposite gender of what they hoped for. Due to this, certain countries prohibit these kinds of testing in order to avoid fetal termination based on gender. Current Status of the Facilities in Fetal and Maternal Screening: The current medical technology offers a variety of tests in fetal and maternal screening such as: Prenatal Screening Tests, including Ultrasound, Early Pregnancy or First Trimester Screening, Nuchal Translucency Ultrasound during which a test of the mother’s blood will also be carried out. The second trimester screening involves maternal serum screening. “Current methods of fetal genetic testing typically involve obtaining samples of amniotic fluid, placenta, fetal blood, or rarely, other fetal tissues or fluids”25 The invasive methods necessary for obtaining fetal examples place the fetus in the risk of death. Consequently, the growth of a safe, accurate, rapid, non persistent test for prenatal diagnosis is an area of active analysis. “Fetal genetic material”26 may be found in the maternal flow, increasing the option of using maternal blood to diagnose fetal disease. Intact fetal cells may be recognized in maternal blood and they are not a dependable source of fetal genetic material for the reason that these cells are very rare and may persist for years after previous pregnancies. By contrast, fetal "cell-free" nucleic acids are additionally abundant in the maternal flow and unique to the present pregnancy. Therefore, they have huge potential for use in prenatal analysis. Consequently, the present standard care offers a persistent prenatal gender test only to those women whose threat of genetic or chromosomal abnormalities are more than or equal to the risk of a procedure-related loss. This means that majority of women never get the advantages of a gender test calculation. The latest finding of the presence of fetal genetic material in maternal blood has offered new methods of non-invasive prenatal analysis. The observation of fetal DNA in maternal blood is made to be much more than that which exists in the cellular fraction. Given the comparatively easy recognition of male “DNA”27 in maternal blood, one medical application is the non-invasive recognition of male fetuses at threat for X-linked disorders. Prenatal diagnosis is widely accessible. Only the purpose for which patients undergo prenatal diagnosis is the element that is changing nowadays. With the current use of first-trimester and incorporated screening as a division of routine clinical practice, there are a variety of received screening protocols other than aneuploidies. These options can be confusing both to both patients and contributors. The tests are not usually conducted as routine examination associated with pregnancy but upon the choice of the parents, after obtaining their consent. 1. Scans-Doppler: A Doppler is a variety of ultrasound scan that is used to evaluate the babys health. “A Doppler measures blood flow in different parts of your babys body, such as his umbilical cord, brain, kidneys and heart”28 A Doppler scan may be executed concurrently, as it normally uses similar equipment. The scanning process will enable the checking of blood flow through the umbilical cord, which reflects on the doppler. Screen descriptions in 3D and 4D illustrate how blood flows and the machine analyses this A major benefit of this kind of invesigation is that it can provide a reliable result within a few seconds. “Today, the use of real-time scanners and 3D technology has taken ultrasound to an entirely new level, allowing expectant parents their first "movies" of an unborn child”29 More significantly, it provides doctors a clearer image of regular fetal size, age and growth. 2. Blood Tests: Blood tests are an extremely helpful diagnostic tool. Blood is prepared up of several different kinds of cells and other compounds, containing different salts and certain proteins. “Blood contains two main elements: the fluid that is called plasma and cells”30 The liquid part of the blood is named plasma. When, blood clots external the body, the blood cells and several of the proteins turn into solid. The enduring liquid is named serum, which may be used in chemical tests and in tests to discover how the immune method fights diseases. “There are two types of pregnancy blood tests. The qualitative hCG test detects the presence of the hormone, but the quantitative one detects its amount too”31 It is always enhanced to go for home pregnancy tests, before you method the doctor for detecting pregnancy. 3. Urine Tests: A urine test is necessary during the first prenatal test and then can be taken at the time of future prenatal visits. It would be a good thing if the healthcare provider could check urine in each visit. “A urine tests is used to assess bladder or kidney infections, diabetes, dehydration and preeclampsia by screening for high levels of sugars, proteins, ketones and bacteria.”32 Invasive Tests: Invasive tests, for instance, chorionic villus sampling and amniocentesis are carried out in the womb, or the liquid and other fluids inside, and provide a definitive result. However, it carries some element of risk as it involves “inserting catheters into the blood vessels of the heart in order to get a closer look at the coronary arteries or to stimulate and test the electrical system of the heart”33 The Risks: Some maternity tests provide the result as lower and higher risks. A low-risk outcome means that there are few chances of the baby being born with Downs syndrome. It never indicates that there is no risk at all. “An increased risk means you will be offered diagnostic tests but it does not mean that your baby definitely has the condition”34 Miscarriage is the one of the major risks which is caused because of fetal screening. A miscarriage is the death of a baby before about the twentieth week of pregnancy. The medical term for a miscarriage is spontaneous abortion, but the condition is not an abortion in the general definition of the term. How will prenatal screening and diagnosis change in the next 10 years? Prenatal screening and diagnosis helps in preliminary diagnosis of the child’s disorders from the uterus itself. The non invasive diagnosis are “used for diagnosing congenital anomalies and risk assessment of given genetic disorders.”35 Despite the “advancements in the prenatal screening,”36 there are yet many syndromes which the accessibility of prenatal diagnosis will be approved but is at present unavailable. This is because “genetic abnormalities”37 is not yet recognized. Even if there are many technologies available to reduce these diseases, a few of them are new and yet to be discovered fully. The development in the “sequencing of DNA”38 makes known the direction of disease genes and it is expected that over the next ten years, men and women need to go for prenatal diagnosis in order to detect any such problems before hand. “circulating in the maternal bloodstream” has made the non invasive test practical one. The use of “molecular genetics”39 is currently imperfect in recognizing the constitutional genetic abnormalities within the fetus at the preliminary phase itself, the future use of molecular biology in prenatal diagnosis might expand to a more detailed analysis for the security of the fetus. The future of the molecular biology will develop with the “new and improved diagnostic modalities”40Relating “the molecular mechanism involved and their relationship to biological and behavioral function”41 will be the bigger question over the next ten years. There is a need for the further clinical study to identify fetuses that are distraught as early as possible, so that interventions can be started earlier than the major cause of the fetus. The patients need to be aware of the importance of prenatel diagnosis and its consequences as well as regular tests are to be made. The adoption of ultra sound recognizes the growth of abnormalities in a fetus and has previously undergone a biological abuse in order to clear the abnormality. There was actually some understanding between the medical professionals that all the “women should be offered an ultra sound scan”42 even if there is any defect or not, in order to avid the risks. If the clinicians and the medical professionals would be able to find out the early biomarkers of lack of well being, then early intervention can be planned and put into practice as soon as possible. The biomarkers need to be incorporated into a trial design at the earliest opportunity. “Target modulation can be assessed with radiologic modalities such as magnetic resonance spectroscopy, magnetic resonance imaging, and positron electron tomography”43 The study regarding the fetal specific “MRNA expression and identification”44 by non invasive sampling might interpret into medical examination in the medium time. Still, RNA is greatly less suitable to attain and work with. Samples have to be dealt with great care and handled quickly inn order to avoid corrupting MRNA and the genetic material under observation may not be articulated in voluntarily available tissues. On the other hand, the technology of changing the human genome is still in the preliminary phase and future advancements are unsure. There is a demand to highlight problems such as parental preference and abortion to reduce the diseases. The sequencing of the human genome has an important influence on the parental diagnosis and results in genetic diseases, infant mortality and handicaps in the child. Furthermore even though the non invasive prenatal diagnosis has precise genetic material defect, the medical professionals forecast that it “will be capable of monogenic disease identification and complete fetal genome mapping within the next 10 years”45 Technical improvement resolves the consent of the chance of diagnosis in the near future and the suggestion for noninvasive prenatal diagnosis testing, which is considered vital if it capacity. Prenatal diagnosis is not generally implemented as a well planned future randomized test signifying effectiveness. Conclusion: Non invasive prenatal diagnosis was set up as an option to invasive testing that may become obtainable in the near future. Future studies with better sample volume and different population would be helpful in verifying the women’s attitudes towards non invasive prenatal diagnosis. It is significant to keep in mind that women’s present approach towards non invasive prenatal diagnosis cannot forecast future aspects. 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