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1.
April 2017

FAQ179, April 2017

Pregnancy What is carrier screening? What is a carrier? What are the chances of having a child with a genetic disorder? How is carrier screening done? When can carrier screening be done? Do I have to have carrier screening? What carrier screening tests are available? Who should have carrier screening? What is targeted carrier screening? What is expanded carrier screening? Is one approach better than the other? What choices do I have if my partner and I are carriers of a genetic disorder? How accurate is carrier screening? Are results...


PFSI008 How the Test Is Done CELL-FREE DNA PRENATAL SCREENING TEST What is it? The cell-free DNA prenatal screening test (also called “cfDNA test”) screens for certain conditions caused by an abnormal number of chromosomes. It does not test for all types of chromosomal disorders. Screening tests are used to estimate whether your baby is at higher risk or lower risk of having a certain condition. Diagnostic tests can give a definite answer about whether the baby has a certain condition. These tests include amniocentesis or chorionic villus sampling (CVS). = maternal ...


FAQ164, September 2015

What are prenatal diagnostic tests? Prenatal diagnostic tests are tests that can detect certain disorders before a baby is born.


4.
April 2017

FAQ094, April 2017

What are genes? A gene is a small piece of hereditary material called DNA that controls some aspect of a person’s physical makeup or a process in the body. Genes come in pairs.


5.
September 2017

FAQ060, September 2017

Why is there a concern about having a child later in life? Becoming pregnant after age 35 years can present a challenge. Also, having a child later in life has certain risks. These risks may affect a woman’s health as well as her baby’s health.


FAQ164, September 2016

What is prenatal genetic testing? Prenatal genetic testing gives parents-to-be information about whether their fetus has certain genetic disorders.


FAQ165, July 2017

What is prenatal genetic testing? Prenatal genetic testing gives parents-to-be information about whether their fetus has certain genetic disorders.


PFSI010 ››› Weeks 1–4 Weeks 5–8 Weeks 9–12 Weeks 13–16 Weeks 17–20 Weeks 21–24 • Timing: 10–13 weeks • Blood test plus NT ultrasound exam • Screens for Down • syndrome and trisomy 18 First-trimester screening Second-trimester screening (“quad screen”) • Timing: 15–22 weeks • Blood test • Screens for Down syndrome, trisomy 13, trisomy 18, and NTDs Standard ultrasound exam • Timing: 18–22 weeks • Screens for some physical defects Integrated screening and sequential screening • Timing: 10–22 weeks • Combines first-trimester and second-trimester screening test results in vari...


FAQ146, February 2016

What is a birth defect? A birth defect is a condition that is present at birth. Some birth defects can be seen right after the baby is born, such as a clubfoot or extra fingers or toes. Special tests may be needed to find others, such as heart defects or hearing loss. Some birth defects are not noticed until later in life.


FAQ165, April 2014

What is a birth defect? A birth defect is a problem that is present at birth, although it may not be noticed until the child is older. Birth defects may affect any part of the body, including major organs such as the heart, lungs, or brain. The defect may affect the baby’s appearance, a body function, or both.


American Congress of Obstetricians and Gynecologists
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