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Trisomy 21

Trisomy 21

Trisomy 21

Susan Riordan, RN, RDMS & Jonathan Weeks, M.D.
Susan Riordan, RN, RDMS & Jonathan Weeks, M.D.
on behalf of e-Ed Credits

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Review:

Launch date: 09 Oct 2017
Expiry Date:

Last updated: 31 May 2019

Reference: 184919

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BEATRICE FOGARTY (27 Jul 2018)
Couldn't read the script, in was too small.

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Description

Trisomy 21 (which is also known as Down Syndrome or mongolism) is the most common chromosomal abnormality of the autosomes identified at birth. The incidence is approximately 1 in every 800 live births. To help explain this better, it is important to discuss normal genetics. Chromosomes (which are long strands of deoxyribonucleic acid or DNA) are found in the nucleus of every cell in the human body. In addition, there are two types of chromosomes, one group called autosomes (which are numbered 1 through 22) and the other group is the sex chromosomes (which are X and Y). For humans, the normal number of total chromosomes is 46, and these are actually found as 23 pairs. Therefore, every cell in the body (except the egg and the sperm) should have two sets of the autosomes, 1 through 22, and one pair of sex chromosomes (as either XX for female or XY for male). This means that every cell (except the egg and the sperm) should have two number 1 chromosomes, two number 2 chromosomes, two numbers 3 chromosomes, and so on up to two number 22 chromosomes, and two sex chromosomes. If a person has a genetic karyotype performed, a normal female would be listed as 46 XX and a normal male would be listed as 46 XY. Unfortunately with Trisomy 21, there is an "extra" number 21 chromosome, and the karyotype would be listed as 47 XY, +21 (for a male) or 47 XX, +21 (for a female). The incidence of Trisomy 21 is no more common in twin pregnancies than in singleton pregnancies.

Objectives

Upon completion of this course, the learner will be able to:
1. Explain what trisomy 21 is, the etiology behind its development, and its overall prognosis.

2. Discuss what is normal regarding the chromosomal makeup of humans.

3. Describe what prenatal diagnostic tools are available for screening as well as what is currently necessary in making a definitive diagnosis.

4. Describe the ultrasound findings that may be present and detectable in a fetus with trisomy 21.
Susan Riordan, RN, RDMS & Jonathan Weeks, M.D.

Author Information Play Video Bio

Susan Riordan, RN, RDMS & Jonathan Weeks, M.D.
on behalf of e-Ed Credits

Susan Riordan received her Bachelors degree in nursing in 1979 and has been a full time nurse for 21 years. She has worked in labor and delivery, postpartum, and the newborn nursery. She has been a high-risk obstetrical sonographer for the past 10 years and received her RDMS in Obstetrics and Gynecology in 1997. She currently works at Norton Suburban Hospital in Maternal-Fetal Medicine under the direction of Dr. Jonathan Weeks.

Jonathan Weeks, M.D. is a board certified Obstetrician / Gynecologist and Perinatologist. He is currently director of the Maternal Fetal Medicine Center at Norton Suburban Hospital. Dr. Weeks has several publications in peer-review medical journals and has lectured at numerous meetings across the country.

Current Accreditations

This course has been certified by or provided by the following Certified Organization/s:

  • American Nurses Credentialing Center (ANCC)
  • 1.00 Hours

Faculty and Disclosures

Additional Contributors

Conflicts Declared

Conflicts of Interest declaration by Author:

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BEATRICE FOGARTY (27 Jul 2018)
Couldn't read the script, in was too small.

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