Ultrasound screening tests can be done to determine whether your baby has Down syndrome or not. This test is usually done at 12 week, or gestational age of approximately 3 months. In addition to ultrasound tests, down syndrome can also be known by blood tests, fetal DNA tests, and amniocentesis tests. Ultrasound screening tests are considered the safest for pregnant women who want to know whether their child has the potential for Down syndrome disorder or not.
What is Down syndrome
Down syndrome is not a hereditary disease but this is a genetic disorder that causes learning disabilities in children. This genetic abnormality occurs when the womb baby has an additional chromosome 21 making the number of all chromosomes 47 chromosomes instead of 46 chromosomes, when the embryonic development is either a full copy or a partial copy.
Children born with Down syndrome often experience health problems such as hearing problems, vision problems, emotional behavioral problems, difficulty focusing attention, and late growth. In addition, children with Down syndrome are also at risk of experiencing several medical conditions such as GERD, heart defects, hypothyroidism, and gluten intolerance.
Down syndrome risk factors pregnancy
Some factors that increase the risk of Down syndrome in infants such as folic acid deficiency, the age of the mother during pregnancy, have given birth to a Down syndrome baby before, the number of siblings, and the distance between pregnancies. Folic acid deficiency during pregnancy can increase the risk of giving birth to Down syndrome. Folic acid plays a role in the development of the baby’s brain and spinal cord. Down syndrome can occur when the body’s metabolism works which is not optimal to break down folic acid. In the opinion of experts, decreased folic acid metabolism can affect epigenetics to form chromosomes.
The age of 35 years and over pregnant women has a greater risk of containing babies with genetic problems such as Down syndrome. Whereas pregnant women at the age of 49 years and above have a risk of up to 1: 10 having a Down syndrome baby. In women approaching menopause, the ability to select defective embryos will decrease and increase the risk of having children who have genetic disorders.
Other factors that increase the risk of Down syndrome are women who have given birth to Down syndrome babies with a ratio of 1: 100. Other risks, as revealed by research from the Institute of Medical Informatics, Biometry and Epidemiology at the University Hospital Essen, Germany, state that the number of siblings and the longer distance of birth can also increase the risk of Down syndrome.
12 week pregnancy
12 weeks of gestation may have been awaited by most mothers because they have successfully completed the first trimester of pregnancy. At this age the risk of miscarriage is also reduced, and you become more relaxed. At this age you can tell your pregnancy to friends, family and colleagues. At 12 weeks gestation, most organs, reproductive systems, blood circulation, the urinary system have begun to form and will continue to develop in the next 28 weeks.
Your baby’s weight at this age is around 0.49 ounces (14 g) with a length of about 2 inches (5 cm). The fetus will experience rapid development and maturation. White blood cells begin to be formed in the spinal cord to help babies fight infections when they are born. Baby’s heartbeat has also begun to be heard at this gestational age, the kidneys begin to excrete urine, the vocal cords begin to form, the placenta has fully developed, the skeletal cartilage begins to become hard bones, fingers and toes are formed, and the eyelids are fully formed. The baby’s brain also develops fast, even babies at 12 weeks can open and close their fingers.
At 12 weeks gestation, the urge to urinate continuously begins to decrease, and some other early pregnancy symptoms such as nausea, decreased appetite, and fatigue also decrease. However, other symptoms such as dizziness, are more sensitive to smell, the breasts and nipples are very soft, you will begin to feel. The headaches that you experience can occur because of things like decreased sugar levels, the body produces more blood vessels, lack of sleep, stress, dehydration and hormonal changes.
You can overcome it by getting enough rest, drinking lots of water, avoid standing for a long time, and snacking regularly. At this gestational age, you might get your appetite again and start adding about 300 extra calories a day to the needs of two people. You are also recommended to follow a balanced pregnancy diet by including a variety of vegetables and fruits for vitamins and minerals, proteins such as meat, chicken, fish, and calcium-rich foods such as low-fat milk, tofu, and nuts. You also have to drink at least eight to 10 glasses of water to prevent your body from becoming dehydrated.
Hormonal changes also cause excessive saliva, and decreased sexual appetite for some women. Other symptoms that are often experienced such as vaginal discharge are useful to protect your vagina from infection, but you also need to be vigilant and immediately contact your doctor when you experience yellow, greenish, pink or brown vaginal discharge. This can be a sign of infection or premature labor. Besides vaginal discharge, another symptom that occurs at 12 weeks’ gestation is spotting or bleeding, especially after having sex. This happens because your cervix is more sensitive, if bleeding accompanied by cramps you should contact your doctor.
Hormonal changes during pregnancy can also damage teeth and cause bleeding gums. When hormone levels change and blood volume increases, the gums will be more sensitive and swollen easily. Use a softer toothbrush so as not to cause the gums to bleed or use special toothpaste, if necessary consult your dentist.
Ultrasonography (USG) in 12 week pregnancy
Ultrasound examination at 12 weeks gestation was performed to determine fetal size and serious developmental disorders of the fetus such as Down syndrome. You can do this check in the hospital, and get a copy of the image from the scan. Through this examination we can know a small picture of fetal life and to find out whether everything is fine.
At 12 weeks’ gestation, you will see fetal movements clearly when looking at the baby using ultrasonography. This movement will be more active in the coming weeks when the baby’s organs and muscles continue to grow and the baby grows bigger. You will also see the development of your twin fetal partners at this age. But at this age, chances are that you still can’t see the sex of the fetus when doing ultrasound examinations. The sex of the fetus can be seen when the pregnancy is 13 weeks and above or more clearly at 20 weeks’ gestation.
Test for down syndrome in 12 week pregnancy
Consult a doctor must be done first before carrying out the initial examination and test. The doctor will recommend what type of test to do. Down syndrome detection can be done in several ways such as Ultrasound screening (USG Screening), Maternal serum screening, Amniocentesis, Chorionic villus sampling (CVS), and blood tests.
Prepare before doing ultrasound tests
There are several things that pregnant women must prepare before doing ultrasound tests. The choice of doctors who have certificates in ultrasound tests is very important to read the diagnosis so that the results are optimal. Drinking a lot of water at least 8 glasses since morning before doing ultrasound tests can also help cleanse ketuba fluids, so the test results will be clearer.
Before ultrasound examination, you should wear comfortable clothes that make it easier for the doctor to do the examination. You can use a loose blouse, with comfortable subordinates. Avoid hunger or too full before doing ultrasound tests to create a sense of comfort in yourself when doing the examination, if necessary accompanied by a partner. The last thing to note is to prepare a list of questions to the doctor who will do an ultrasound examination. You can ask about what you feel, the position of the fetus, its condition or abnormalities that may occur in the fetus. After that, also ask the doctor when to schedule the next ultrasound.
Ultrasound screening test for down syndrome
Ultrasound screening is carried out every time a pregnant woman controls uterus to the obstetrician to see fetal growth. Ultrasound screening is an examination using high frequency sound waves to determine the condition of the baby, uterus, placenta, and other pelvic organs.
Ultrasound screening has many benefits including knowing more accurately the gestational age, knowing serious medical problems such as heart defects, small bowel obstruction, placental problems, and other medical problems. Information on medical problems as early as possible will be very beneficial for mothers for child care after birth.
In addition to some of the medical problems above, an ultrasound screening test can also be used to find out Down syndrome. Ultrasound screening tests are usually performed with blood tests at 11-14 weeks gestation and can detect Down syndrome by 87 percent. The ultrasound screening test method used to examine the fetal back of the fetus is very safe for you and the fetus. Down syndrome screening tests with ultrasound are very safe when compared to other types of tests that can cause miscarriages. Ultrasound screening tests only cause a temporary heat sensation at the examination site and do not have serious long-term side effects or complications.
Infants with Down syndrome disorder can be detected when doing an ultrasound test by seeing whether the nose bone is detected or not at 11 to 14 weeks’ gestation. If the ultrasound test fails to detect nasal bones in the fetus, it is almost certain that babies born will experience Down syndrome.
Ultrasound tests are also used to measure the area of the fetal neck which is referred to as nuchal. Abnormal nuchal thickness can be a sign that the baby will experience Down syndrome. In pregnant women over the age of 35 years, with abnormal nuchal thickness, there is a risk of having a baby with Down syndrome reaching 75 percent.
It is generally recommended to do ultrasound screening tests at least three times during pregnancy. Choosing the right time to do an ultrasound is very important, for example, the initial examination is done at 6 or 7 weeks of gestation to 24 weeks to listen to the baby’s heart rate and to determine the gestational age accurately. Subsequent examinations were carried out at 18-24 weeks of gestation to find out gender and to find out abnormalities such as Down syndrome and others. Third ultrasound examination at 27-34 weeks gestation to determine the shape of the baby’s face and to determine fetal growth.
Another test for down syndrome
Fetal DNA test
In addition to ultrasound tests, down syndrome can also be identified with a fetal DNA test. This test is recommended for mothers who have a high risk of having a Down syndrome baby. This test is done by taking a mother’s blood sample and checking whether there are chromosomes missing or excess chromosomes. This test allows the doctor to know at least 98 percent of chromosomes. Fetal DNA test is not recommended for mothers who have multiple pregnancies and have low risk factors.
Like the fetal DNA test, the amniocentesis test can also be used to find out babies with Down syndrome disorders and to find out other potential abnormalities such as cystic fibrosis or spina bifida in the fetus. Amniocentesis tests are also recommended for mothers who have a high risk of having a baby with Down syndrome. This test is done by taking a sample of amniotic water at 16-20 weeks gestational age. Before taking a sample of amniotic water, the doctor will perform a medical ultrasound test to determine the position of the baby before injecting a small needle to take a sample of amniotic water.
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