1. Down syndrome is a genetic condition that causes mild to serious physical and developmental problems. Sometimes, a parent has what experts call “translocated” genes. Down syndrome is a chromosome disorder associated with intellectual disability, a characteristic facial appearance, with small nose and an upward slant to the eyes, and low muscle tone in infancy. Half of the chromosomes are from the mother, and half are from the father. Learn about the types of prenatal screening tests that check for developmental and genetic issues that may affect your unborn child. Check out the National Down Syndrome Society and the National Association for Down Syndrome for help and support. Here’s what you need to know about checkups and tests during your second trimester. These extra genes and DNA cause changes in the development of the embryo and fetus resulting in physical and mental abnormalities. Recent medical advances, as well as cultural and institutional support for people with Down syndrome and their families, provides many opportunities to help overcome the challenges of this condition. It is most often caused by the presence of an extra copy of chromosome number 21. The lifespan for people with Down syndrome has improved dramatically in recent decades. Down syndrome occurs because of changes in the way cells in chromosome 21 divide. Karyotyping is a lab procedure that helps your doctor examine your chromosomes. They’d rather have a child with Down syndrome than lose the pregnancy. Abnormalities include an extra full or partial copy of chromosome 21. Down syndrome (also known as trisomy 21) is a genetic condition in which the person has an extra copy of chromosome 21. Because of this, and because of lack of funding from other government organizations, there is surprisingly little … Mosaicism occurs when a child is born with an extra chromosome in some but not all of their cells. Each person with Down syndrome is an individual — intellectual and developmental problems may be mild, moderate or severe. If results aren’t normal, your doctor may follow up with an amniocentesis after your 15th week of pregnancy. What is Down syndrome in children? It is usually associated with physical growth delays, mild to moderate intellectual disability, and characteristic facial features. The parent doesn’t have Down syndrome because they have the right number of genes, but their child may have what’s called “translocation Down syndrome.” Not everyone with translocation Down syndrome gets it from their parents -- it may also happen by chance. Down syndrome is usually caused by an error in cell division called nondisjunction. Down syndrome (trisomy 21) isn't a disease or condition that can be managed or cured with medication or surgery. As the embryo develops, the extra chromosome is replicated in every cell of the body. You can find out more about Down syndrome below. Additionally, it often involves heart defects, visual and hearing impairments, and other health problems. In addition to larger concerns — like heart defects and leukemia — people with Down syndrome may need to be guarded from common infections such as colds. Routine tests done during pregnancy can check if it’s likely your baby has Down syndrome. Our website services, content, and products are for informational purposes only. Sign Up to Receive Our Free Coroanvirus Newsletter, Developmental Delays in Children Ages 3-5. Yours may benefit from: You’ll also work closely with your child’s doctor to watch for and manage any health problems associated with the condition. Certain parents have a greater chance of giving birth to a child with Down syndrome. Smart Grocery Shopping When You Have Diabetes, Surprising Things You Didn't Know About Dogs and Cats, Coronavirus in Context: Interviews With Experts. These tests have a higher false-positive rate than tests done at later pregnancy stages. That is, an egg is gifted with t… If those results are positive, or if you’re at high risk, you may choose to have additional, more invasive tests to be certain. Sequential Screening: Is My Baby Healthy? Down syndrome is a genetic disorder that is caused by mistakes in cell division during development of the human egg, sperm, or embryo. Research shows that paternal age also has an effect. Down syndrome is a genetic disorder and the most common autosomal chromosome abnormality in humans, where extra genetic material from chromosome 21 is transferred to a newly formed embryo.