Two tubes of blood are required from themother. If available, a cheek swab from the father of the pregnancy is also requested. Submitting the father’s sample may help reduce the need fo ra repeat test on the mother or clarify rare results that fall in a borderline risk category. If the father’sDNA sample i ssubmitted and does not match the fetus, this information will not be revealed to you, your partner, or your doctor. The samples are screened for only those chromosome abnormalities listeд below.
This is caused by an extra copy of chromosome21 and isalso called Down syndrome. This is the most common genetic cause of
intellectual disability and occurs in about 1 in every 700 liveborn babies.1 Individuals with Down syndrome have anaverage IQ of 50 and all have some degree of intellectual disability. Some children with Down syndrome have defects of the heart or other organs that may require surgery or medical treatment. Some have other medica lconditions including hearing or vision loss.
This is caused by an extra copy of chromosome18 and is also called Edwards syndrome. Trisomy 18 occurs in about 1 in every 7500 liveborn babies and causes severe intellectua ldisability1. Most babies with Trisomy18 have multiple severe birth defects of the brain, heart and other organs. Poor growth during pregnancy is common and many babies are miscarried or stillborn. Of those babies born alive, most die before one year of age. Babies who survive have profound intellectual disabilities and growth and development problems
This is caused by an extra copy of chromosome13 and is also called Patau syndrome. Trisomy 13 occurs in about 1 in every 22,700 liveborn babies and causes severe intellectual disability1. Most babies with trisomy13 have multiple severe birth defects o fthe brain and othe rorgans. Many babies are miscarried or stillborn. Of those babies born alive,most die before one year of age.
This is caused by a missing copy of the X chromosome and is also called Turner syndrome. This only affects girls and is found in about 1 in every 1 in 5000 liveborn babies. Girls with MonosomyX are shorter than average. Some girls have heart or kidney defects, hearing problems,and some have minor learning disabilities. Girls with MonosomyX may need growth hormone treatments in early childhood and usually need sex hormone treatments at the time of puberty. As adults, they often have infertility.
This is caused by an extra copy of all chromosomes. Abnormalities are often present in both the placenta and the fetus. It is found in about 1 in 1000 first trimester pregnancies1; most babies with triploidy are miscarried or stillborn. Of those rare babies born alive, most die before one year of age. Mothers carrying a fetus with triploidy can also experience various pregnancy complications such as pre-eclampsia, severe nausea, excessive bleeding, and placental disease.
Di-George Syndr. (22q11.2 deletion )
22q11.2 deletion syndrome is caused by a small missing piece of chromosome 22. It is found in about 1 in every liveborn 2000 babies1. Most children with 22q11.2 deletion syndrome have mild-to-moderate intellectual disability and delayed speech and language. Many have heart defects, immune system problems, and other health problems. Some people with 22q11.2 deletion syndrome have autism spectrum disorder and some develop psychiatric illnesses such as schizophrenia.
1p36 deletion syndrome, Cri du chat syndrome (5p-),Angelman syndrome(15q11.2 deletion maternal),
Prader-Willi syndrome(15q11.2 deletion paternal) are another 4 Microdeletions Syndr. that can be tested.