Cell-Free Dna Blood Testing Research Paper

Child is a gift from God. Every parent hopes for a healthy child. However, abnormalities in the fetus growth becoming common nowadays. These may be due to physical, radiation and chemical factors. These factors will cause deformities such as genetic mutation which causes mental retardation, abnormal body buildup and other conditions which bring a lot of troubles in the future to the child themselves and their parents. Modern technologies and innovations in the medical field had developed a method to detect the abnormality before delivery and prevent this future tragedy to happen. This method is known as prenatal screening. There are several advantages and disadvantages of prenatal screening.

Embryonic tissue that was removed is first tested for genetic abnormalities. This is done so that the healthiest embryos are frozen and implanted. Dr. Timothy Yeko, a medical director of the assisted reproductive technology program at the Reproductive Medicine Group in Tampa, talked about the genetic testing, “ Most of our patients now choose to have this genetic testing, which has come into widespread use in the past year or so. By doing this , the miscarriage rate has dropped by 50 percent because the genetically abnormal embryos are the ones that end in miscarriage.”

Trisomy 21, also known as nondisjunction, means that there is an extra copy of chromosome 21 in the cell and is the most common. Translocation occurs when there are two 21 chromosomes plus an extra piece of chromosome 21 that had attached itself to another chromosome during the division process. Those who have mosaic down syndrome contain an extra chromosome 21 in only some of their cells while others are unaffected. People with mosaic down syndrome tend to have milder physical features and intellectual abilities than those who have trisomy 21 and translocation down syndrome. According to Mark Selikowitz, maternal age is a significant factor in causing trisomy 21. When females are born, all the eggs that a woman will produce are already present. The eggs wait years, some longer than others to be released and it is during the wait period (some 20-40 years) that it is believed errors can occur. On the contrary, man’s sperm does not remain standing therefore less probability for error. Additionally, people with a family history of down syndrome and people who carry the genetic translocation are factors to consider whether the child would be at

Current advances in biotechnology through massively parallel sequencing, or Next Generation Sequencing (NGS), has allowed for the investigation and in-depth sequencing of the human genome particularly for the study of biological markers, translational research and genotyping. Upon discovery of cell-free DNA in maternal plasma, implementation of Non-invasive Prenatal Testing, or NIFTY/NIPT, has been actively performed throughout the globe to test for fetal chromosomal abnormalities, particularly Down’s syndrome. Detection rates of fetal aneuploidies can be done in the first and/or second trimester – as early as 4 weeks of gestation, however, most accurate results are found at 7 weeks of gestation. The high accuracy rate of detection of

The discovery of free fetal DNA circulating in maternal blood during pregnancy revolutionized noninvasive prenatal diagnosis. Advancements in prenatal diagnosis in the past decade have enabled clinicians to accurately diagnose genetic abnormalities in the fetus earlier and without risk of miscarriage as is associated with amniocentesis and chorionic villus sampling. Sequencing and analysis of the fetal genome has not only improved prenatal diagnosis of chromosomal aneuploidies, but also subchromosomal aberrations and monogenic disorders. This lends parents earlier and more specific information that may guide their decisions during pregnancy to benefit

Children are our future; our future scientists, doctors, teachers, president and so much more. It is hard not to notice the number of young parents nowadays that have children. the average age range for mothers giving birth is 20-34. With the current up rise of babies being born to young mothers, I could not help but think about how age plays a factor into birth effects. Down syndrome is the most common single cause of human birth defects. The most common form of Down syndrome is known as trisomy 21, a genetic condition where individuals have 47 chromosomes in each cell instead of 46. Trisomy 21 is caused by an error in cell division called nondisjunction, which leaves a sperm or egg cell with an extra copy of chromosome 21 before or at conception.

Pre-Natal testing is also available, where cells are taken from the amniotic fluid between 15 and 20

Because of this discovery women are able to be tested to ascertain if there will be any misfortune in the baby’s early life. As of now, Lo suggested using blood tests at different points to catch any traces of cancer early on. (Standaert, Michael) Studies started in the UK and China in the year 1997 due to their rapidly increasing rates of fatalities due to cancer.

by sampling the amniotic fluid, which contains cells and chemicals which are fetal in origin.”(4) This

One rare, but extremely fatal chromosomal disorder is Edwards Syndrome (Trisomy 18). “A trisomy is caused by a genetic error in which three copies of a chromosome (instead of two) are inherited from the parents.” (Perlstein, D.) This disorder is the second most common trisomy, first being Down Syndrome. The two disorder are very common, however, Edwards Syndrome is much more fatal and life-threatening. “Today the majority of fetuses with Trisomy 18 are diagnosed prior to birth.” (Perlstein, D.)

The inception of baby scan technology has made possible for the doctors to examine the gradual development of the unborn baby. Different types of tests are performed during the gestation period. Sexing, confirmation, 3-D, and 4-D are few of them. These scans are non-invasive, safe, painless, and do not involve the use of surgical instruments.

The procedure involves taking fluid from the amniotic sac of a pregnant woman and examining the DNA of fetal cells within the fluid. Amniocentesis is considered an invasive prenatal test because the procedure involves penetration through

The guidelines that physicians should use when deciding to perform these procedures is that as a physician. I think it would be smart to run variable of test and examines, so that way they know if the fetus is healthy or not. That way the physician knows which fetus is able to be born the healthiest. Another, guideline to considered is the mother. I’m no one ti pick and choose people’s choices. However, I do think that if the mother was aware of her situation, she should seek someone to help her reconsidered, before making any decisions. The physician might want to inform the mother to reconsidered too, before taking the next steps.

Trisomy 21 most commonly known as Down syndrome is a genetic disorder that causes abnormal cell division resulting an extra genetic material forming a twenty-first chromosome. No one knows for sure why Down Syndrome happens and there is no way to prevent the chromosomal error that causes it. Scientists knows that women age thirty-five and older have a significantly higher risk

Cause/ Type of mutation: The most common form of Down syndrome is identified as trisomy 21. It’s a condition in which individuals have 47 chromosomes in each cell instead of 46. The cause of trisomy 21 is due to an error in cell division which is identified as nondisjunction in which leaves a sperm or egg cell with an extra copy of chromosomes 21 before or at conception.