It’s wonderful to be pregnant, especially after trying to get pregnant for almost ten years. However, as I hear that the risk of down syndrome increases with later-age pregnancy, my advanced age of turning 46 years old worries me. I also know a few distant relatives who became pregnant in their late 40s and have down syndrome babies.
This was corroborated by Stanford Medicine, which reported that the likelihood of having a child with Down syndrome rises over time. For a woman who conceives at age 25, the risk is approximately 1 in 1,250. For a woman who gets pregnant at age 40, the likelihood rises to about 1 in 100. The risks could be greater.
After giving it much thought, reading online, and consulting with others, I decided that it would be wise for me to have the down syndrome screening during my pregnancy. The information mentioned above strengthens my case for performing a down syndrome screening test. This means I need to learn more about the condition itself and how it’s diagnosed.
How Down Syndrome is Diagnosed During Pregnancy
According to the Mayo Clinic, down syndrome is a genetic disorder caused by abnormal cell division that results in an extra full or partial copy of chromosome 21. This extra genetic material is responsible for the developmental changes and physical features of down syndrome.
There are two types of tests as elaborated by the National Institute of Child Health and Human Development:
- Parental Screening Test: This involves a blood test or ultrasound that can indicate an increased likelihood that a foetus has Down syndrome. But it cannot determine whether or not it is present. A blood test allows a doctor to look for ‘markers’, such as certain proteins, in the mother’s blood that indicates an increased risk of Down syndrome. The ultrasound test, known as nuchal translucency measurement, can detect fluid at the back of a foetus’s neck, which can indicate down syndrome in some cases.
- Prenatal Diagnostic Test: A diagnostic test can be performed if a screening test indicates the possibility of down syndrome. A sample of genetic material is removed for testing for Down syndrome. Following its removal, the sample is examined for extra material from chromosome 21, which could indicate that a foetus has Down syndrome. This test can determine whether or not someone has the condition. It does, however, pose a slightly higher risk to the foetus than screening tests.
I intend to perform the Nuchal Translucency screening test via ultrasound. It appears to be a safer option for the time being. If the ultrasound scan reveals a high risk of Down syndrome, I would consider a blood test and, later, a prenatal diagnostic test. However, I will seek medical advice and see what she has to say about this.
More Details on Nuchal Translucency
I chose this test scan because I’m nearing the end of my first trimester in two weeks and want to know the status of my pregnancy as soon as possible. Nuchal translucency (NT), as previously mentioned, is an ultrasound that measures the amount of fluid behind your baby’s neck. It is performed as a screening test during the first trimester of pregnancy and does not diagnose a condition.
According to the Cleveland Clinic, a nuchal translucency scan examines the nuchal fold at the back of your baby’s neck. All babies have fluid behind their necks. When a baby has chromosomal or genetic conditions, more fluid accumulates at the base of his or her neck. More fluid in this area could indicate that your baby has a condition such as:
- Down syndrome (trisomy 21)
- Patau syndrome (trisomy 13)
- Edwards syndrome (trisomy 18)
The results of the NT scan can tell you whether your baby is likely or unlikely to have these conditions. NT Scan can be performed (bottom of their torso) when the baby is between 11 and 13 weeks of gestation, or between 45 and 84 millimetres from the crown (top of their head) to the rump. This is because the fluid behind the baby’s neck is reabsorbed by the body after 14 weeks of gestation. This makes measuring later in pregnancy more difficult.
Knowing Ahead of Time Allows for Better Planning
So, what makes me want to do this down syndrome screening? One of the main reasons is so that I could be better prepared when my little one arrives. Growing up as a Down syndrome baby will be different from other children. Some considerations must be made ahead of time. I can do more research on how to care for a Down syndrome child if the screening test shows a high risk.
This includes everything from when they are babies to when they reach adulthood. UTSouthwestern Medical Centre lists some of the main things to expect with Down syndrome babies, including a different appearance than other newborns, the need for extra care when handling, a longer hospital stay, more medical appointments after birth, and a range of developmental milestones.
Down syndrome kids, like other special needs children, should grow up in a much more inclusive environment, which means that they should have equal access to learning and achievement regardless of their individual needs or barriers. This includes making them feel at ease in mainstream classrooms, encouraging inclusive participation, referring to them respectfully, and providing opportunities for them to interact with other children.
Now, I’d like to conclude with some facts about Down syndrome from UPMC:
- One in every 700 births has Down syndrome.
- Down syndrome is classified into three types: Trisomy 21, Translocation, and Mosaic.
- Down syndrome has been depicted in historical paintings from the 15th and 16th centuries.
- Other health problems can occur with Down syndrome.
- While each individual with Down syndrome is unique, some characteristics are common.
- There are health care guidelines in place to help primary care providers care for those with the condition effectively.
- The family and personal impact of having a child with Down syndrome are overwhelmingly positive.
- The life expectancy of people with Down syndrome is increasing.
- People with the condition are living better lives than ever before, thanks to improved medical care, supportive therapies, and educational opportunities.
So, there you have it. I’ve told you why I wanted to do the Down syndrome screening test and which procedure I feel comfortable with. There is a wealth of information on Down syndrome available online, some of which may be misleading. Make certain that any information you seek about this or any other pregnancy-related condition comes from reliable sources. You’ve got this, mummies!
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