Pre-Implantation Genetic 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.”

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

However, analysis of intact fetal cells for detection of aneuploidies and genetic disease shifted away from this when in 1997, Lo et al. first reported the presence of fetal DNA circulating in maternal blood. Free fetal DNA (ffDNA) along with RNA (ffRNA) have opened the door to a multitude of downstream analytical techniques of the fetal genome and transcriptome. Because ffDNA can be isolated through noninvasive methods--all one requires is a sample of maternal blood--clinician-scientists have focused on improving diagnostic methods with ffDNA. Currently, ffDNA is used in the noninvasive diagnosis of Rhesus blood group genotype, sex determination, fetal aneuploidies, and other genetic disorders (Bianchi,

The goal of the document is to persuade couples who are interested in prenatal genetic counseling to take the next step, and make an appointment with a certified genetic counselor.

United States genetic centers now offer DNA tests for over 30 or 40 of the more commonly inherited disorders. Those including cystic fibrosis, susceptibility to breast cancer, X syndrome, Huntington’s disease, Duchenne muscular dystrophy, and many other various disorders (Golden). Also, with recent developments, couples are able to have a pre-implantation genetic diagnosis (PGD). This procedure allows the testing of genetic disorders before germination. It consists of “petri-dish” testing of sperm and egg cells donated by the soon to be parents. This procedure prevents the idea of abortion, for if genetic problems occur, you are not destroying a fetus, but simple flushing away embryo cells.

To properly explain why Preimplantation Genetic Diagnosis is a poor operation one must know what it is. Preimplantation Genetic Diagnosis was meant for when a child is born with a terrible illness, the parents then spend a large sum of money to “create” a child from the father’s sperm and mother's eggs, they then take the traits they want. From doing so they make the child they want to be a almost perfect

Amniocentisis is the most common prenatal test performed today (Morris, 1993). While the test is not totally risk free, estimated fetal loss due to amniocentesis is less than 0.5 percent (O'Connor, 1989). This procedure involves the extraction of a small amount of fluid surrounding the developing fetus. Within this fluid are cells which contain the genetic information of the fetus. Upon analysis of this fluid, the determination of the sex as well as the location of genetic abnormality causing genes can be identified.

Response: 1 in 33 children are born with some kind of birth defect. While genetic testing and screening is suggested by doctors to women, it is not required. Studies show that many women are not searching for a defect because they want to abort, but they would rather like to prepare for how there life and child’s life will be with this genetic abnormality (7). Many early pregnancy testing are not harmful to the other or child because they usually involve blood tests or ultrasounds. Mothers begin to be susceptible to risk as they reach the later months of their pregnancy and are involved in the 15th-20th week of pregnancy. Amniocentesis is when a doctor received some of the amniotic fluid around the child. The fluid is sent to a lab so that the cells may grow for testing. This tests for spina bifida and other abnormalities

Preimplantation Genetic Diagnosis is a new way to test embryos for predisposed genetic diseases such as Huntington's disease or cystic fibrosis. Although Preimplantation Genetic Diagnosis can be extremely expensive, it can eliminate genetic diseases and is a better alternative to amniocentesis. While preimplantation genetic diagnosis is around $50,000, lifelong medical care for a child with cystic fibrosis is over $300,000 and mental toll for you and your child. Preimplantation genetic diagnosis is a safe and effective way to implant embryos without genetic disorders and can make it possible for a child to live a healthy life. Hundreds of families each year use PGD to have a successful pregnancy and a healthy child. Amniocentesis is a test

According to https://en.wikipedia.org/wiki/Amniocentesis amniocentesis is a medical procedure which is used in prenatal diagnosis of chromosomal abnormalities and fetal infections as described below. Amniocentesis carries a small risk for both mother and child and so the test may be offered to mothers who have a significant risk for genetic diseases. However, according to https://www.google.co.uk/#safe=strict&q=chorionic+villus+sampling&*&spf=115 Chorionic Villus Sampling (CVS) is a test done during the early stages of pregnancy to detect congenital abnormalities in the fetus. It allows the mother to be checked for any signs of Down’s syndrome, Edwards’

In recent years, fetal gene sequencing has been a controversial topic of debate for various reasons. This sequencing gives parents their unborn child’s full genetic complex during pregnancy. Meaning, parents will know in advance the physical traits, any possible disease development, or other complications. Patient care for future generations can be more accurate and efficient with the use of the scanning. There are conflicts between parents on the beliefs over this type of testing. Due to the immorality of obsessive parental influence, fetal scanning should only be used for medical illness prediction.

As of today, “testing is 98-99% accurate for most couples.” (“preimplantation genetic diagnosis”). However, it is difficult to determine the correct percent of success rate, because the accuracy, the procedure will vary in different situations. Also, in some circumstances, none of the embryos are suitable to alter. Embryos are not acceptable for the womb if they are not fertilized correctly, if they have not developed to the blastocyst stage, if they do not survive the biopsy or if all of the embryos were affected by the genetic condition. Another method of designing children is a three parent baby, indicating an individual with three genetic parents. The embryo is devised through a special form of in-vitro fertilization, representing the baby’s mitochondrial DNA is from a third party. This procedure is applied to prohibit against mitochondrial diseases. The majority of a three parent babies DNA comes from the parents, but a tiny amount of the child’s DNA comes from a female donor.

First of all, prenatal DNA screening suggests a way to prevent of further time and money consumption on critically anomalous babies. Through DNA screening, the fetal genome can be obtained to establish an early diagnosis of hereditary diseases such as Down syndrome. “Down

It can also be used to test for Tay-Sachs Disease, Fragile-X Mental Retardation, Cystic Fibrosis, Down Syndrome and Spinal Muscular Atrophy. In the past couples who wanted to have childr en, and were carriers of inherited diseases, worried about the possibility of their children inheriting the disease. Parents will no longer have this worry. In 1989, an English couple became the first to use PGD [Grady,1995]. It was used because they were at risk of passing along a form of severe mental retardation. Because it only affected sons, PGD was used to ensure that the couple had a daughter.

The next technique routinely performed for prenatal diagnosis is amniocentesis. A long needle is inserted into the mother’s uterus to withdraw a sample of amniotic fluid containing cells shed by the fetus. The cells are cultured and analyzed for chromosome abnormalities. Despite the lengthy time in obtaining results because the cells need to be cultured, this method has become widely accepted as a safe and accurate way to determine genetic disorders.