Prenatal Testing
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Prenatal testing is a term that includes many different tests that can be done during pregnancy. The tests are done to provide more information about your health and the health of your developing baby. Prenatal testing includes simple blood tests or urine analyses, as well as more invasive procedures, such as drawing fluid from the amniotic sac or fetal blood from the umbilical cord for testing.
Prenatal tests can be used to identify many different things, including:
- Treatable health problems in the mother that can affect the health of the fetus
- Characteristics of the fetus, including size, age, placement in the uterus, and sex
- Possible presence of certain, genetic, or chromosomal problems
In the mother, prenatal tests are used to identify things that could possibly affect the developing fetus, including:
- Antibodies that can cross the placenta and affect the health of the fetus
- Presence of gestational diabetes
- Immunity to certain diseases (eg, chickenpox , German measles )
- Presence of iron-deficiency anemia
- Presence of sexually transmitted diseases
Prenatal tests can screen for many different congenital defects in the fetus, including:
- Chromosomal disorders: These include Down syndrome (trisomy 21), trisomy 18, and trisomy 13. The risk of having of child with a chromosomal disorder increases with the age of the mother.
- Dominant gene disorders: eg, Huntington disease and achondroplasia
- Recessive gene disorders: eg, cystic fibrosis , sickle cell disease , Tay-Sachs disease , beta thalassemia
- Neural tube defects: eg, spina bifida and anencephaly
- Congenital heart defects
About 250 different birth defects can be diagnosed through prenatal testing. Some can be treated in utero (before birth) or immediately after birth, but the majority cannot. Prenatal testing can be quite complicated. However, prenatal tests do not test for everything, and no prenatal test guarantees the birth of a healthy baby.
Why is prenatal testing performed?
What are the different types of prenatal tests?
What questions should I ask my heatlthcare provider about prenatal testing?
Where can I get more information about prenatal testing?
References:
Bubb JA, Matthews AL. What’s new in prenatal screening and diagnosis? Primary Care: Clinics in Office Practice. 2004;31:561-582.
Overview: prenatal tests. American Pregnancy Association website. Available at: http://www.americanpregnancy.org/prenataltesting/prenataltests.html . Accessed August 24, 2005.
Prenatal genetic testing. Genetics & Public Policy Center website. Available at: http://www.dnapolicy.org/genetics/prenatal.jhtml . Accessed August 24, 2005.
Prenatal tests. Nemours Foundation. KidsHealth website. Available at: http://kidshealth.org/parent/system/medical/prenatal_tests.html . Accessed August 24, 2005.
Last reviewed June 2007 by Ganson Purcell Jr., MD, FACOG, FACPE
Please be aware that this information is provided to supplement the care provided by your physician. It is neither intended nor implied to be a substitute for professional medical advice. CALL YOUR HEALTHCARE PROVIDER IMMEDIATELY IF YOU THINK YOU MAY HAVE A MEDICAL EMERGENCY. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with any questions you may have regarding a medical condition.
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