DNP 810 Refer to the complex inheritance health issue identified in DQ 1
DNP 810 Refer to the complex inheritance health issue identified in DQ 1
Down syndrome screening can undergo enactment within eleven through fourteen weeks of one’s pregnancy when addressing both blood examinations as well as ultrasounds within the first trimester (Lou et al., 2018). A blood test called the multiple marker serum screening tests can also be performed between 15 and 20 weeks. However, amniocentesis, chorionic villus sampling (CVS), and ultrasound are the primary diagnostic testing procedures employed primarily for the identification of chromosomal abnormalities, namely Trisomy 21 (Lou et al., 2018). DNA blood test ‘with additionally “accur[acy” for the detection of Trisomy 21 in comparison of conventional procedures dealing within a study of approximately “sixteen thousand pregnant women”, researchers investigated that a cell-free DNA blood test enacted within the timeframe of ten to fourteen weeks within the pregnancy proved higher within efficacy in regards to Down syndrome diagnosis (Lou et al., 2018).
Diagnostic tests identifying Down syndrome include Chorionic villus sampling (CVS) (Palomaki et al., 2020). Within CVS, placenta cells are extracted to analyze the fetal chromosomes (Palomaki et al., 2020). This examination is enacted within the first trimester of one’s pregnancy, identified as ten through thirteen weeks. Moreover, pregnancy risks of losing a pregnancy (miscarriage) from a CVS rests at a lowered probability-. Next, a sample of the amniotic fluid surrounding the fetus is withdrawn through a needle inserted into the mother’s uterus (Palomaki et al., 2020). This sample is later employed to analyze the fetus’s chromosomes (Palomaki et al., 2020). Doctors conventionally enact this test in the second trimester, after 15 weeks of pregnancy. This test also carries a shallow potentiality in regards to miscarriage. Additionally, preimplantation genetic diagnosis is an option for couples undergoing in vitro fertilization at an increased risk of passing along certain genetic conditions (Palomaki et al., 2020). Finally, the embryo is tested for congenital abnormalities before it’s implanted in the womb.
The importance of DNP-prepared nurses providing education on the benefits of partaking in genetic testing or diagnostic testing is that knowing the information in advance can help parents prepare themselves for a baby with special needs (Ostermaier, 2019). Genetic screening serves to determine whether individuals are a carrier regarding specific conditions of inheritance. To further demonstrate, most individuals are carriers of one or more genetic ailments, despite the rest of the carrier’s family lacking the presence of this particular condition. Being a carrier is essential if the person using the sperm is also a carrier of the same condition. However, these tests slightly increase the risk of miscarriage and other pregnancy complications. On the other hand, a positive result can direct a person toward available prevention, monitoring, and treatment options (Lou et al., 2018). Some test results can also aid people in their decisions about having children.
References
Lou, S., Petersen, O. B., Jørgensen, F. S., Lund, I. C., Kjaergaard, S., Danish Cytogenetic Central Registry Study Group, … & Hansen, J. F. (2018). National screening guidelines and developments in prenatal diagnoses and live births of Down syndrome in 1973–2016 in Denmark. Acta Obstetricia et Gynecologica Scandinavica, 97(2), 195-203.
Ostermaier, K. K. (2019). Patient education: Down syndrome (Beyond the Basics).
Palomaki, G. E., Chiu, R. W., Pertile, M. D., Sistermans, E. A., Yaron, Y., Vermeesch, J. R., … & Wilkins-Haug, L. (2020). International Society for Prenatal Diagnosis Position Statement: cell free (cf) DNA screening for Down syndrome in multiple pregnancies. Prenatal Diagnosis, 41(10).
