Signs of Down syndrome during pregnancy aren't always apparent to the mother but are detected through prenatal screening, primarily via ultrasound markers like increased fluid at the back of the neck (nuchal translucency) or a short/absent nasal bone, and abnormal maternal blood tests (PAPP-A, hCG). Other ultrasound "soft markers" can include heart defects, bright spots in the heart (echogenic foci), or bowel issues, but these don't confirm the condition, requiring diagnostic tests like amniocentesis for a definitive diagnosis.
In pregnancy there are no reliable symptoms for Down syndrome, only markers and tests. The trustworthy “signs of Down syndrome during pregnancy” are a high-risk screening result and, if you choose, a diagnostic result from CVS or amniocentesis.
Distinct physical signs of Down syndrome are usually present at birth and become more apparent as the baby grows. They can include facial features, such as: A flattened face, especially the bridge of the nose. Almond-shaped eyes that slant up.
According to the Centers for Disease Control and Prevention, approximately one in every 640 babies in the United States is born with Down syndrome, making Down syndrome the most common chromosomal condition. About 5,700 babies with Down syndrome are born in the United States each year.
Chromosomal Testing of Maternal Blood
A pregnant woman who is at risk for having an infant with Down syndrome can also have a chromosomal test using her blood. A mother's blood carries DNA from the fetus, which may show extra chromosome 21 material. A more invasive test would then usually confirm the blood test.
Although women older than 35 years of age make up a small portion of all births6 in the United States each year, about one half of babies with Down syndrome are born to women in this age group. This likelihood increases as age increases.
As for any pregnancy reduced fetal movements are a sign of the fetus being in poor condition and should not be accepted as “typical for a baby with Down's syndrome.” Mothers need to be reminded that babies should remain active even during late pregnancy and to report any reduction in fetal movements.
Family Planning
Common physical signs of Down syndrome include a flat face, eyes that slant up, a short neck, small hands and feet, poor muscle tone, and loose joints. Common health problems in childhood include hearing loss, sleep apnea, ear infections, eye diseases, and heart defects.
In the majority of cases, the extra chromosome 21 in Down syndrome originates from the mother. Over 90% of cases are attributed to the maternal contribution, making it the primary source of trisomy 21.
Physical signs of Down syndrome
This is called the dating scan. It's used to see how far along in your pregnancy you are and check your baby's development. The scan may also be part of a screening test for Down's syndrome.
Physical Symptoms
Common physical signs of Down syndrome include1,2: Decreased or poor muscle tone. Short neck, with excess skin at the back of the neck. Flattened facial profile and nose.
According to the World Health Organization, the highest prevalence of Down syndrome is reported in countries such as Ireland, Israel, and Turkey. In contrast, countries like Japan and South Africa report a lower incidence of Down syndrome.
During pregnancy, you may choose to get screening tests for birth defects and genetic conditions with ultrasounds or blood tests. If a screening test shows something abnormal, your provider will recommend a diagnostic test.
There is nothing in the news that changes your pregnancy. Assuming you are healthy, we encourage you to enjoy the coming months. You will most likely be classified as a high risk pregnancy. That usually means extra monitoring, more ultrasounds, and quite a bit of information coming at you over the next few months.
A Detailed Anomaly Scan done at 20 weeks can only detect 50% of Down Syndrome cases. First Trimester Screening, using bloods and Nuchal Translucency measurement, done between 10-14 weeks, can detect 94% of cases and Non-invasive Prenatal Testing (NIPT) from 9 weeks can detect 99% of Down Syndrome cases.
About 95% of the time, Down syndrome is caused by trisomy 21. This means the person has three copies of chromosome 21, instead of the usual two copies. The extra chromosome 21 is in all cells in the body. Trisomy 21 results from an unusual cell division during the development of the sperm cell or the egg cell.
Sometimes, QF-PCR may indicate trisomy 21, but the ultrasound might not show typical Down syndrome signs, like the baby not having a high nuchal translucency (NT) measurement. In these cases, there's a small chance the genetic results might not fully represent the baby's condition.
Who is at risk of a Down syndrome pregnancy? The children of women who fall pregnant after the age of 35 have up to a 1 in 250 chance of being born with Down syndrome. The older the woman is when she becomes pregnant, the higher the risk of a Down syndrome pregnancy.
What causes birth defects?
However, there is no evidence of a decreased incidence of births of children with Down syndrome, and some studies actually provided evidence for a slight increase in incidence of births of children with Down syndrome, while other studies report no changes pre- and post- supplementation [23-26]. On the other hand, one ...
Diagnostic tests that can identify Down syndrome include:
BACKGROUND: Infants with Down syndrome present with organic and neurological changes that may lead to a delay in the acquisition of motor skills such as kicking, a fundamental skill that is a precursor of gait and is influenced by intrinsic and extrinsic factors.
Babies with Down's syndrome are more likely to have a small or absent nose bone, with a flat profile. They often have leakage across the tricuspid valve and reverse flow in the ductus venosus. So adding in these additional markers will take the average detection rate of the standard technique of 80% up to 95%.