If you’re pregnant and have been wondering whether your baby might have Down’s syndrome, you’re not alone! In the UK, one in around 1,000 babies born is affected by Down’s syndrome. But what exactly is it? What are the signs of Down’s syndrome during pregnancy? And how can you find out for sure if your baby has it?
In this article, we’ll answer all those questions, and give you five things to expect when your baby is born!
What Is Down’s Syndrome?
Down syndrome is a genetic disorder that can be diagnosed before or after birth. It is the result of an extra copy of chromosome 21. This gives the persons affected with Down syndrome certain physical characteristics and cognitive disabilities.
Although people with Down’s syndrome share many similarities, each person has their own strengths and challenges and their symptoms can range from mild to severe. Some people with Down’s syndrome live long lives without any serious health problems. Others have major cognitive impairments and other medical conditions that make it difficult for them to care for themselves or participate in everyday life.
Who’s At Risk?
According to the NHS, in almost all cases, Down’s syndrome does not run in families. While it’s true that your chance of having a baby with Down’s syndrome increases as you get older, anyone can have a baby with Down’s syndrome.
Speak to your GP if you want to find out more. They may be able to refer you to a genetic counselor who can help you understand your options and make decisions based on what is right for your family.
Down’s Syndrome Signs In Pregnancy
The signs of Down’s syndrome appear during pregnancy screening tests. The results of these tests predict whether a baby has Down’s syndrome or not.
Screening For Down’s Syndrome
Down’s syndrome (DS) screening is offered to all pregnant women in the UK from the 11th week of pregnancy.
The tests assess the risk of having a baby with DS. They involve an ultrasound, a blood test, and, in some cases, an amniocentesis.
First Trimester Screening
In the first trimester of pregnancy, your doctor can order a blood test. This will determine whether or not your baby has signs of Down’s syndrome. This test measures the level of the hormone AFP in your blood. A sign your baby is at an increased risk of down’s syndrome at this point in pregnancy is; an increased amount of AFP present.
Second Trimester Screening
In the second trimester of pregnancy, doctors recommend having an ultrasound done to check for signs of Down’s syndrome in your baby. Ultrasounds can help determine whether or not there are any visible physical characteristics that might indicate Down’s syndrome. But, they’re not always 100% accurate at predicting this condition.
Signs of Down’s syndrome at this stage in pregnancy are found by measuring the thickness of the baby’s neck and back of the head and comparing these measurements with those of other babies’ measurements at about the same stage in pregnancy. An increased thickness of the neck indicates Down’s syndrome.
How You Can Be 100% Sure These Signs Mean Down’s Syndrome
If signs of Down’s syndrome are found in either of these pregnancy screening tests, you’ll likely be offered more advanced testing.
CVS and Amniocentesis are two different types of prenatal screening tests that can be done to get a more accurate idea of whether or not your baby has Down syndrome.
Amniocentesis
Amniocentesis is a procedure in which doctors insert a needle into your uterus and withdraw some of the fluid surrounding your baby. They then test it for signs that your child may have Down syndrome.
Amniocentesis can be performed as early as 15 weeks, but it is typically performed between 16 and 20 weeks.
The accuracy of amniocentesis is 98 to 99 out of every 100 women having the test.
CVS
CVS is similar to amniocentesis, but with one key difference. It requires that doctors remove an entire sample of cells from your baby’s placenta instead of just a small amount of amniotic fluid.
This can be done at any time during pregnancy but is typically performed between 10 and 12 weeks.
The accuracy rate is also 98 to 99 out of every 100 women having the test.
Can Tests For The Signs Of Down’s Syndrome In Pregnancy Cause Baby Harm?
While it may seem like a good idea to have a test to check for Down’s syndrome in your pregnancy, it’s important to know that it might not be safe for the baby.
CVS can cause miscarriage in 1 out of every 100 pregnancies. Amniocentesis carries a miscarriage risk of 1 in 200.
With both tests, there is also a small risk of infection around the cervix or uterus and of low amniotic fluid levels that could lead to early labour or delivery.
Should You Test For Signs Of Down Syndrome?
Should you test for Down syndrome? That’s a question that only you can answer. As far as we’re concerned, it’s an intensely personal decision. One that should be made only with the help of a doctor and loved ones.
If you do test for signs of down’s syndrome in pregnancy, you’ll have time to prepare yourself and your family before your baby is born. You’ll have time to talk about what this diagnosis means for you and your family members. As well as learn about resources that can help you during this difficult time.
However, it’s important to remember that testing for Down syndrome isn’t 100% accurate. And, that there is a risk involved in the more invasive procedures.
What To Expect
If you are told throughout pregnancy that all signs point towards Down’s syndrome, here are 5 things to expect:
- Expect to feel a wide range of emotions. Such as; shock, disbelief, anger, sadness, fear, or uncertainty. This is perfectly understandable! Your life is going to change drastically. However, it is important to talk to people about what you are feeling so they can support you throughout this time.
- Expect your pregnancy to be different from other pregnancies. Some of the challenges will be physical (like an increased risk of miscarriage) and some will be emotional (like preparing for a child who might have special needs). As your pregnancy will be different, expect it to be monitored more closely. Regular check-ups will help your doctor keep an eye out for any problems related to Down’s syndrome.
- Expect your delivery to be different. Babies with Down’s syndrome are often born before their due date, so don’t be surprised if your baby comes a few weeks early. And, because babies with Down’s syndrome often have trouble breathing, they’re usually delivered by cesarean section. This means you won’t be able to go through labour naturally, but it also means that you’ll be able to get the medical attention that’s needed during delivery.
- Expect a longer hospital stay. It’s not uncommon for babies born with Down syndrome to spend an extended period of time in the hospital. This is because they’re more likely to have health issues that require additional monitoring and care.
- If you have a baby with Down syndrome, you can expect to become an expert. All the appointments, research, and monitoring of your child’s health will help you to learn everything there is to know about the condition, and how it affects your child. This may seem overwhelming at first—but don’t worry! You will soon become an expert on Down syndrome and how best to help your baby thrive.
Signs Of Down’s Syndrome In Babies
If you’ve waited until birth to determine if your baby has Down syndrome, here are the most common physical characteristics of this genetic condition.
Physical Characteristics
The most common physical characteristics of Down syndrome in babies include:
-Flattened facial features, including a short nose with upturned tip, and a protruding tongue
– A small head size (microcephaly)
-Hair that tends to be fine and light colored
-Small ears that sit low on the head
-Increased nuchal skin fold (the back of the neck)
-Almond-shaped eyes with an upward slant (ocular albinism)
-A single crease across the palm of each hand
-Low muscle tone and strength.
Mental characteristics are harder to spot in infancy and become more obvious as your child gets older. The severity of these symptoms varies from child to child. But, babies with down syndrome typically develop more slowly than their peers. They may not reach certain milestones at the same age as other children. Such as; sitting up, walking and talking, etc.
Parenting A Child With Down’s Syndrome
Parenting a child with Down’s syndrome is not always easy. The challenges are many and it will test your strength and your patience. But you can expect your child to bring more love into your life than you ever thought possible.
One of the best thing you can do when raising a child with Down syndrome is; build a strong support system.
It’s so important to know where you can turn when things get tough! Find family and friends who are willing to help out. As well as professionals who can give you advice and direction.
The NHS website provides access to many fantastic resources that offer support for families and carers of those raising children with down’s syndrome. Including local organisations dedicated to helping families with special needs children. These groups will give you advice and support from other parents who have been in your shoes. They can also help arrange social events where your child can meet other kids who have Down’s syndrome.
Also, don’t forget to take care of yourself! It’s easy to get caught up in the day-to-day activities of caring for a child. But, taking time out for yourself will help keep you sane and give you energy to continue on this journey with your child!
If you are worried about having a child with Down’s syndrome, it is always best to speak with your doctor about your concerns. They will be able to answer any questions you may have and help ease your mind.
Thanks for reading and we wish you the best of luck as you continue on this incredible journey!
