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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.


2.
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.


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...


FAQ164, September 2016

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


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


FAQ165, July 2017

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


7.
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...


PFS006, December 2014

Why does my baby need newborn screening tests? Although most babies are healthy when they are born, every U.S. state requires that newborn screening tests be performed on all babies to identify those that may look healthy but have a rare and serious health problem. If problems are found early, treatment can help prevent serious medical problems or death.


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 ...


10.
May 2016

FAQ100, May 2016

What is recurrent pregnancy loss? Recurrent pregnancy loss is defined as having two or more miscarriages. After three repeated miscarriages, a thorough physical exam and testing are recommended.


American College of Obstetricians and Gynecologists
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