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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 ...


Although most babies are born healthy, parents-to-be often worry about the possibility that their baby will be born with a medical condition or physical disability. A birth defect is a physical problem or intellectual disability that is present at birth, although some birth defects may not be noticed until the child is older. About 3 in 100 babies in the United States are born with a major birth defect


FAQ164, September 2015

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


FAQ164, September 2016

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


5.
October 2017

PFS007, October 2017

BRCA1 and BRCA2 Mutations Cancer is caused by several different factors. A few types of cancer run in families. These types are called “hereditary” or “familial” cancer. They are caused by changes in genes that can be passed from parent to child. Changes in genes are called mutations. Hereditary breast and ovarian cancer (HBOC) syndrome is an inherited increased risk of breast cancer, ovarian cancer, and other types of cancer. HBOC syndrome is linked to mutations in several genes, but the most common are called BRCA1 and BRCA2. Inheriting one of these mutations increases the risk of getti...


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.


FAQ165, July 2017

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


8.
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.


PFS012, June 2016

What are opioids? Opioids are a type of medicine that relieves pain. Prescribed opioids include oxycodone, hydromorphone, hydrocodone, codeine, methadone, propoxyphene, and buprenorphine. These medications sometimes are called narcotics. Doctors may prescribe opioids for people who have had surgery, dental work, or an injury. Heroin is an illegal opioid drug.


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...


American College of Obstetricians and Gynecologists
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