Prenatal Testing Before Birth

magine, 20 years from now, sitting in a cold doctor's office deciding the genes of your unborn baby, what color hair, eyes, speed of metabolism, height would you even know what to pick? Impossible you might say but in this day and age technology is growing ever so rapidly that picking the genetic makeup of your baby is closer than you might think. The technology is called CRISPR. This technology doesn't only have the ability to change physical traits, but genetic traits specifically genetic abnormalities and diseases. 20 years ago, no one would have ever thought we would have the answer to, in theory, cure every genetic disease from sickle cell anemia to cystic fibrosis. However, with great scientific breakthroughs comes questioning and

Soon after birth, all babies born in the United States will check for a specific disease. This is called newborn screening. All infants look healthy because they can see from just a baby emergency and screening. Finding these conditions soon after birth can prevent severe problems such as brain damage, organ damage and even death. For example, if the baby's body is capable of handling phenylalanine, make a test (PKU) for phenylketonuria. Phenylalanine is a result of brain damage found in some of the many protein-rich foods and sweeteners can be built on the blood and tissues of a baby with PKU. PKU and baby are put in a special case to avoid the diet initially. Babies are tested for hypothyroidism means that the body does not make enough thyroid hormone. Hypothyroidism baby can take hormonal drugs to prevent a slowdown in growth and brain damage that can occur if not treated hypothyroidism. Also, baby with sickle cell disease are at

PKU stands for phenylketonuria and is an amino acid disorder. PKU is defined as an inborn error of metabolism. Specifically, it characterized by the bodies inability to covert phenylalanine to tyrosine. Moreover, PKU occurs due to a phenylalanine hydroxylase deficiency. An infant develops PKU by inheriting it from their parents. Also, it is referred to as an autosomal recessive trait. Moreover, the infants are missing an phenylalanine hydroxylase enzyme. The method that is used to complete the screening is obtaining a blood sample, and then measuring the amount of Phe and Tyr. Also, genetic testing can be done by obtaining a blood sample. The complications that may arise in infants diagnosed with PKU is that the levels of phenylalanine and

A major concern when having a child with an abnormality is the cost. Ironically, many invest a sufficient amount of time in their careers in order to have a well-paying job, however since they put off children until their later thirties or early forties, the risk for abnormalities is higher. When raising a disabled child, Wertz and Fletcher have noted that it is costly and most of the care is done by the mother. Her primary job becomes being a parent. Also, they have to take on the caring mother role for the rest of their life as it is shown many parents are in their eighty’s and taking care of their fifty-year-old children with a disorder. After the parent dies, it then becomes the sibling’s role to take care of the individual. Studies have

Phenylketonuria (PKU) was the leading cause on infant death after birth before the 1960’s. This is a disorder in which a person cannot properly metabolize an amino acid know as phenylalanine that is found in our food. If detected early at birth we can prevent mental defects to the baby (Alan Fogel). With just a simple test done at the hospital PKU can be detected and managed so that they can grow into healthy adulthood. With the proper dietary plan someone with this autosomal-recessive disorder can lead a normal life with some restrictions but can be done. More research needs to be done on this autosomal-recessive disorder so that we can detect it before the baby is born (Folling, 1934). Research on parent that has phenylketonuria (PKU)

PGD, or pre-implantation genetic diagnosis uses IVF, in vitro fertilisation (fertilization of an egg in a laboratory dish or test tube) , to screen and scan embryos for any potential birth defects or conditions, such as Huntington’s Disease, Cystic Fibrosis or Downs Syndrome. PGD gives parents the options of being able to have healthy children, without the fear that they could inherit one of these many genetic conditions.

Phenylketonuria also known as PKU is an inherited metabolic disorder that presents itself soon after a baby is born. According to the US Department of Health and Human Services only one child out of 150,000 is diagnosed with phenylketonuria (2011). For a child to inherit this disorder both of parents have to carry the PKU gene even if they do not have the disease (Mayo, 2014). Even if a woman with PKU is pregnant it does not necessarily mean that their baby will also inherit the disease. Complications with the baby only arise if the mother does not follow the dietary restrictions set by this disease. These complications include small heads, low birth weight, and developmental issues (Mayo, 2014). If a child is diagnosed with this disease, their ability to break down amino acids

Gene Editing is a method that can be used to change or edit the genetic code. Researchers and doctors can add or delete a sequence in the genetic code. Adding or deleting a sequence in the genetic code is just like copying and pasting in a word document. Gene editing is being used to cure disease and/or disorders, and has been around for years but has never been very accurate or precise. Now, with the breakthrough technology of the year, the CRISPR-Cas9 gene editing could be easier than ever.The CRISPR-Cas9 has the potential to cure diseases that many have died from. The CRISPR-Cas9 is like a little pair of scissors that will cut out, repair , or even replace DNA. The changes that are made with this machine will be passed on from generation to generation. Like said before, gene editing is not new to the world, but the CRISPR-Cas9 is the first technology being used to undergo gene editing. Before the CRISPR-Cas9 there was the TALENs. Out of all the technology for gene editing CRISPR-Cas9 has been the most precise of them all. As soon as it is perfected it will be the next

Pre implantation genetic diagnosis (PGD) is a specific genetic technology used to select embryos before implantation. PGD is a screening test used to detect whether genetic or chromosomal disorders are present within the embryos produced through in vitro fertilization (IVF). The embryos are screened before they are transferred to the uterus to enable the couples to make informed decisions about the embryo being implanted during the IVF process. Embryos that haven’t been affected by the genetic or chromosomal disorder can be selected to implant into the uterus

Preimplantation genetic diagnosis (PGD) is a procedure that tests early-stage human embryos for genetic defects. Its main use is to test for heritable genetic disorders and chromosomal abnormalities, and it may be used to find embryos that are a tissue match for siblings who are living with certain genetic conditions. To undergo PGD, an embryo is created via in vitro fertilisation (IVF), the process by which fusion of an egg and sperm occurs in a laboratory culture dish.

CRISPR genes are used to eliminate unwanted gentic material to change the genetic make up of the organism. There are three CRISPR mechanisms which can be used two being the most studied. In this process, DNA from viruses or plasmids are semarated into small parts and incorporated into a CRISPR locus among a range of short repeats. The loci are transcribed and processed to produce small RNA strands, which are then used to guide effector endonucleases that target invading DNA based on sequence costruction resulting in adapting the genes charecteric (Biolabs, 2016). CRISPR technology can be helpful as it could provide the cure for human diseases or prevent mutations such as downs syndrome (Yeadon, 2016). However, having the ability to modify embryos with technology will not necessarily be a good thing as it could cause many issues. Before designer childrens become a reality many things will happen first. CRISPR technology will need to be proven safe and become legal in coutries before designer babies can be created. Also all the possible side effects will need to be considered such as causing death of embryos, gaps in society, children will not have any say in what happens and only certain people will be able to afford it (Hanson, 2016). There are also many other ethical issues. How will doctors and other professions decide whether changing a human’s genetic material is acceptable or not, where the line end? Will it only be allowed for parents wanting to prevent their child from getting down syndrome? Or will parents who are willing to pay enough be granted the ability to design their own baby making them have blue eyes and whatever else they may want. This could potentially cause bigger problems if many people choose to modify the embryos and keep

People who are planning a pregnancy generally strive to give birth to a healthy child that is free of notable handicap. To achieve such an end, preimplantation genetic diagnosis is sometimes offered to the minority of persons who have in vitro fertilization. Preimplantation genetic diagnosis (PGD) is a technique used to test for certain genetic abnormalities in embryos produced by in vitro fertilization prior to implantation in the uterus. The screening for genetic defects occurs at the six to ten cell stage of embryonic development. Using polymerase chain reaction, the cellular DNA is tested for chromosomal abnormalities or genetic mutations. The embryos found to have serious genetic disorders are either discarded or frozen indefinitely. The

Prenatal testing is an assessment/check which is undertaken before the birth of a baby. The test is used for detecting changes of chromosomes and genes in a fetus and is offered while a woman is pregnant. Prenatal tests are conducted through blood, body fluids or tissue samples and identify irregularities in DNA, such as gene sections which are missing or added by mistake, lost genes, genes which are too active or turned off. Although this type of testing can identify DNA abnormalities, it cannot however, diagnose all possible congenital defects.

Gene therapy is an experimental technique that uses genes to treat or prevent disease. Currently, there are a lot of studies and experiments that allow doctors to treat a disorder by inserting a gene into a patient’s cells instead of using drugs or direct surgery. Researchers are testing several approaches to gene therapy, such as replacing a mutated gene that causes disease with a healthy copy of the gene, inactivating, or “knocking out,” a mutated gene that is functioning improperly, introducing a new gene into the body to help fight a disease, and helping to regenerate precious cells. Although gene therapy has a very active and promising approach for a number of disease, there are still several risks and side effects. Hence, the therapy

Genetic engineering is the act of purposely altering genes or the DNA sequence. Specifically, the process of genetic engineering in humans has a lot of potential in regards to creating a healthier, more disease free society. Imagine living in a world where you wouldn’t have to fear that your offspring would be born with a life threatening disease, because scientists and medical professionals would have the capability to work together in order to manipulate the particular gene responsible for causing the disease. Such a world would also have the ability to reverse or stop certain disease processes that may show up later in life. This leaves a very large group of people that genetic engineering could potentially help… the group being practically everyone in the world that possesses genes that indicate a disease. Clearly, there are bound to be some dangers with this concept since it is still so new and unknown. However, by learning more about this concept and setting limits to genetic engineering, many lives could be saved, as long as those limits are not passed. An article written on the website Popular Science by Claire Maldarelli goes into further detail about the techniques by which scientists can modify human genes, as well as the many successes and potential successes associated with it. The Harvard University website explains the the CRISPR genetic engineering tool stands for “Clustered Regularly Interspaced Short Palindromic Repeat,” which is basically a tool that