18q Deletion Syndrome

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.”

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

"Complete Trisomy 13 Syndrome - Conditions - GTR - NCBI." National Center for Biotechnology Information. U.S. National Library of Medicine, n.d. Web. 17 Mar. 2017.

Genetics has become a very important topic of discussion in the healthcare field. There are more and more diseases being linked to certain genes in the DNA. Carrier: Untangling the danger in my DNA, by Bonnie J. Rough, is one example of the modern problems people have to deal with in regards to genetics and genetic testing. The author writes about the problems she faced. She had some very difficult decisions about her possible offspring as well as herself. Rough writes about her struggle with deciding if she should get a genetic test for a gene that causes a disease that has been passed on through her families for generations. The reader also learns about her and her husband’s experience of getting pregnant and the steps they took to try

The purpose of the document is to explain the benefits of prenatal genetic counselling, procedures and tests used to find genetic abnormalities, and what to do with the information received through genetic counseling.

Hutchinson-Gilford Progeria Syndrome (HGPS) affects approximately 1 in 4-8 million newborns. It is characterized by rapid aging, but no symptoms are seen at birth. Within a year, infected children start showing symptoms such as a receding jaw, pointy nose, partial to total hair loss (alopecia), fat loss, bone disfigurements, a short stature and skin problems (Pollex 2004). The disease progresses with time, and eventually leads to death at an average age of about 13 years. Death is usually caused by some form of cardiovascular disease, usually induced by atherosclerosis (Wuyts et al. 2005). Most cases of HGPS are due to de novo autosomal dominant point mutations in the lamin A/C gene (LMNA). There are some reported cases suggesting autosomal recessive inheritance, but further testing needs to be performed.

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.

Cri-du-Chat (cat’s cry) Syndrome is a rare chromosomal disorder that is caused by the deletion of genetic material on chromosome 5. Due to this, this syndrome has an alternative name, known as 5p-, or 5p minus syndrome. Although this genetic defect is able to be diagnosed, the cause of the deletion on the chromosome is unknown. Almost all cases of the Cri-du-Chat Syndrome are found to have no relation with family members or previous generations. This syndrome is generally not inherited, as the deletion occurs randomly during meiosis (the formation of the gametes). In about 90% of people who have this condition, the deletion is completely random and is not inherited. The remaining 10% of affected people inherit a chromosome with a deleted section from an unaffected parent. This is because the parents’ balanced

Modern day technology has taken the “surprise” out of pregnancy for a large number of parents if they choose to utilize it. An option parents might explore is having a prenatal assessment to determine if there are any identifiable genetic abnormalities in the unborn child. There are risks associated with certain procedures such as false positive results, procedure induced miscarriages or possible fetal limb abnormalities.

A more severe phenotype has been seen in a subset of patients with a complete gene removal.

As previously stated, this procedure can detect a new unborn child’s potential genetic disorders or disabilities. The information is then relayed back to the parents and giving them extra warning

If a mother chooses to have tests done, she has many different routes such as an amniocentesis, blood work, or chorionic villus sampling. All of these tests are done to provide more information on the growing fetus. In Marilynn Marchione’s (2014) article, “Prenatal Genetic Testing Helps Pregnant Women Detect Birth Defects”, she interviews Dr. Ronald Wapner, a productive genetics chief at Columbia University Medical Center in New York. Dr. Wapner explains that with the use of prenatal genetic testing, doctors are able to give countless amounts of expecting mothers information about what can cause disabilities such as down syndrome, or severe autism. Doctors can also explain what the prognosis is, and what special care a child may need. He also goes into detail about how many mothers who are 35 years and older are at high risk of having a child with a disability. Wapner believes it is needed to have the tests done for their safety and safety of the fetus. Having tests done will better prepare doctors and expecting mothers to what is happening in the womb. Yes, many expecting mothers are offered screenings with an ultrasound, or a blood test that can detect some common abnormal cell counts, such as down syndrome, but these can not be relied upon alone. Visual chromosome exams for example, will show doctors and parents a majority of potential diseases a child may have. Some prefer it, and some do not. It does not give a definite answer, but it will help parents and doctors look out for symptoms and signs of the diseases. Without warning, or knowledge, a parent may not know what is wrong. With these tests, parents can learn to be more aware, and increase their knowledge of

ADNP Syndrome (Helsmoortel-VanDerAa Syndrome) is a complex neurolodevelopmental disorder in which a defect can affects brain formation, development and function. Any disturbance will affect bran formation, neurodevelopment and will interrupt neuroprotective function and the patient will present with complex disorder that manifest with global developmental delay particularly in motor and speech skills, sleep and behavioural disorder, ASD, hypotonia, feeding difficulties and growth disturbance. Other organ system might be also affected like hearing, vision, immune system, endocrine and cardiovascular system. ADNP is thought to be prevalent among genetic autism cases as it found to be mutated in at least 0.17% of those cases (he…,2014).

Trisomy 18 or Edwards syndrome is a very negative mutation based on the effects. It causes failed growth so you cannot grow well and decreases life span. It also causes brain disorders so your memories don’t stay stored in your mind.

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.