Learn About Trisomy 18
Trisomy 18, also called Edwards syndrome, is a chromosomal condition associated with abnormalities in many parts of the body. Individuals with trisomy 18 often have slow growth before birth (intrauterine growth retardation) and a low birth weight. Affected individuals may have heart defects and abnormalities of other organs that develop before birth. Other features of trisomy 18 include a small, abnormally shaped head; a small jaw and mouth; and clenched fists with overlapping fingers. Due to the presence of several life-threatening medical problems, many individuals with trisomy 18 die before birth or within their first month. Five to 10 percent of children with this condition live past their first year, and these children often have severe intellectual disability.
Most cases of trisomy 18 result from having three copies of chromosome 18 in each cell in the body instead of the usual two copies. The extra genetic material disrupts the normal course of development, causing the characteristic features of trisomy 18.
Trisomy 18 occurs in about 1 in 5,000 live-born infants; it is more common in pregnancy, but many affected fetuses do not survive to term. Although women of all ages can have a child with trisomy 18, the chance of having a child with this condition increases as a woman gets older.
Most cases of trisomy 18 are not inherited, but occur as random events during the formation of eggs and sperm. An error in cell division called nondisjunction results in a reproductive cell with an abnormal number of chromosomes. For example, an egg or sperm cell may gain an extra copy of chromosome 18. If one of these atypical reproductive cells contributes to the genetic makeup of a child, the child will have an extra chromosome 18 in each of the body's cells.
Duke Birthing Center
"I can distinctly remember the awe and utter amazement I felt watching my first cesarean delivery. I knew that there was a baby inside the mother's abdomen, but it was amazing to see the doctors deliver it. To see it just ""pop out"". Still, to this day, I get that feeling of awe and amazement every time I help a mom deliver her baby. I feel so lucky to be part of such a wonderful moment in a family's life. As a maternal fetal medicine specialist, I take care of sick moms, sick babies, and sick pregnancies. Each day, while I get to help women and their families with big wins and happy moments, I also have the opportunity to help them through sad times and some of the worst moments of their lives. It is these hard and sad moments that make the happy ones even more meaningful. I also spend some of my time helping to teach medical students about Ob/Gyn. I really enjoy teaching, and sharing my love for Ob/Gyn with young learners is one of my favorite parts of my job. My other very important job is being a mom. I have three fantastic young boys that keep me busy and remind me on a daily basis how important family is. I love to swim and make jam. Apricot Jam is my favorite.". Dr. Dotters is rated as an Elite provider by MediFind in the treatment of Trisomy 18. Her top areas of expertise are Chromosome 13q Duplication, Trisomy 13, Trisomy 18, Hysterectomy, and Tubal Ligation.
University Professional Services
Aaron Caughey is a Neonatologist and an Obstetrics and Gynecologist in Portland, Oregon. Dr. Caughey is rated as an Elite provider by MediFind in the treatment of Trisomy 18. His top areas of expertise are Gestational Diabetes, Endometritis, Erb's Palsy, Intrauterine Device Insertion, and Hysterectomy. Dr. Caughey is currently accepting new patients.
Chih-ping Chen practices in Taiwan. Chen is rated as an Elite expert by MediFind in the treatment of Trisomy 18. Their top areas of expertise are Trisomy 14 Mosaicism, Trisomy 18, Hygroma Cervical, and Trisomy 13.
Published Date: February 16, 2021
Published By: National Institutes of Health