Down Syndrome Diagnosing Process

Down Syndrome Diagnosing Process
Understanding Down Syndrome and other intellectual and developmental disabilities are part of health care provider’s job. While most babies are born healthy, it is important to know the likelihood of having a baby with Down Syndrome. Older mothers are more likely to have a baby affected by Down syndrome than younger mothers (1). In other words, the prevalence of Down syndrome increases as the mother’s age increases, to clarify, each year, about 6,000 babies are born with Down syndrome, which is about 1 in every 700 babies born (1). The process of diagnosing Down syndrome can be done during pregnancy by testing multiple methods such as, a prenatal screening test, a diagnostic test, and testing in vitro fertilization.
During the first trimester (a term or period of three months) of pregnancy, certain proteins can be checked by using a blood test that enables the doctors to check for ‘’markers’’ in the mother’s blood (2). After the blood test shows an increased likelihood of Down syndrome, health care providers can make images by doing an ultrasound test (2). Then, doctors indicate Down Syndrome by detecting a fluid at the back of a fetus's neck (2). At the end, health care providers collect all these results to produce Down syndrome risk rating. However, a challenge will face the doctors if a woman is pregnant with twins or triplets (2). In that case, the blood test will not be effective because the substances from a Down syndrome fetus will be harder to detect (2). However, if a screening test shows an increased likelihood, a diagnostic test can be
Before an egg is implanted into the uterus, clinicians detect chromosomal imbalances or other genetic conditions by using Preimplantation genetic diagnosis (PGD) test (2). For clarification, PGD technique is available and useful mostly for some couples who are at risk of passing on a variety of genetic conditions, including X-linked disorders, as well as couples who have suffered repeated spontaneous pregnancy losses, sub-fertile couples, or those at risk for single-gene disorders (2). Subsequently, parents who involved in PGD must have genetic counseling and should consider close monitoring and additional testing during their pregnancies, given some increased risk of chromosomal abnormalities arising secondary to the in vitro fertilization process