Amniocentesis

Amniocentesis Family history of an open neural tube defect Infection About Integrated Genetics If a close relative has been born with an open neural Great care is taken to prevent infection. Therefore, tube defect, such as spina bifida or anencephaly, infection following amniocentesis is very rare. there may be an increased risk to other pregnancies However, a woman with fever or any flu-like symptoms Integrated Genetics has been in the family. after amniocentesis should call her doctor for advice. a leader in genetic testing Abnormal maternal serum screening test Harm to the fetus and counseling services for over 25 years. Screening tests performed on a sample of blood Since the ultrasound image gives the doctor exact from a pregnant woman can identify pregnancies information about the location of the fetus inside the This brochure is provided at risk for the common chromosome abnormalities, uterus, the risk that the needle will harm the fetus is by Integrated Genetics as including Down syndrome and open neural extremely low. an educational service for tube defects. When the screening results show physicians and their patients. Rh problems that a pregnancy has a high risk for one of these For more information on problems, amniocentesis for diagnostic testing is If a woman having an amniocentesis has Rh our genetic testing and recommended. negative blood type, and the baby’s father has Rh positive blood type, the woman should have counseling services, Abnormal ultrasound an injection of Rh immune globulin following the please visit our web sites: If an ultrasound shows an abnormality, procedure. This helps prevent Rh disease in the baby. www.mytestingoptions.com amniocentesis may be recommended by www.integratedgenetics.com Repeat testing your doctor. Very rarely, a doctor cannot obtain enough amniotic How safe is amniocentesis? fluid, or the testing cannot be performed for some other reason. Neither of these situations indicates that Since it was developed in the late 1960’s, genetic something is necessarily wrong with the pregnancy, amniocentesis has been performed on hundreds but amniocentesis would have to be repeated in of thousands of pregnancies. Though it is now a order to get results. routine procedure, it does have the following risks: Options after testing Miscarriage Miscarriage is uncommon, but is the most serious Most women who have amniocentesis have normal risk of amniocentesis. Some miscarriages would test results. The few people who turn out to have happen anyway, but a few are caused by the abnormal results will need to speak with their doctors procedure. The risk for miscarriage is 1 in 300 to 1 in or with a genetic specialist about what their results 500. Early amniocentesis (before 15 weeks) has a mean and what to do going forward. higher risk, up to 1 in 100. Deciding whether or not to have amniocentesis A procedure that allows a pregnancy Bleeding, cramping, or leaking of fluid from usually depends upon your particular risk factors the vagina for certain conditions, your concerns, your family to be tested for certain kinds of These symptoms, which happen in about 1% of situation and your feelings. Your health care provider birth defects can help to answer any additional questions you InSight® is a registered service mark of Esoterix Genetic Laboratories, LLC. women having amniocentesis, do not usually result ® may have. All decisions about whether or not to ©2012 Laboratory Corporation of America Holdings. All rights reserved. in a miscarriage. However, a woman having these rep-040-v4-0612 symptoms should call her doctor for advice. have genetic testing are up to you.

Integrated Genetics

Client Services (800) 848-4436 www.mytestingoptions.com www.integratedgenetics.com Amniocentesis What tests can be performed Testing for open neural tube defects Of course, a woman may choose not to on amniotic fluid? Amniotic fluid can also be tested for open neural have any testing at all. If a woman is unsure tube defects, such as spina bifida and anencephaly, whether or not she should have amniocentesis, Different tests can be performed on a sample of when the spinal cord or brain of the baby have not she should speak with her doctor, a genetic amniotic fluid, depending on why a particular developed properly. The standard test measures a counselor or other specialist in genetics. pregnancy is at risk. Amniocentesis is a procedure that allows a protein called alpha-fetoprotein (AFP), and detects In addition to the above choices that over 90% of all open neural tube defects. The results pregnancy to be tested for certain kinds of birth Testing for chromosome abnormalities everyone has, people with additional specific are usually available in one week or less. defects. Since you are considering having an Most people who decide to have amniocentesis are at risks may choose to have amniocentesis. risk for having a baby with a chromosome abnormality. Specific risks include: amniocentesis, this brochure will help answer What cannot be tested Chromosomes are tiny packages of genetic material, some of your questions about the procedure with amniocentesis? Family history of a chromosome abnormality and the tests that can be done. present in every cell of the body, which contain the or inherited disease information needed for a fertilized egg cell to turn Every pregnancy has some risk, around 3–5%, If someone in the family, especially a close into a human being. The amniotic fluid contains cells What is amniocentesis? for the types of birth defects that do not have a relative, is known to have a chromosome that have been shed from the fetus. Normally in each known cause. A few examples are cleft lip, non- abnormality or inherited disease, there may be Amniocentesis is the withdrawal of a small amount human cell there are 46 chromosomes. A missing or specific mental retardation and most heart defects. increased risk for another child to be born within of amniotic fluid (the fluid surrounding a developing an extra chromosome, or a missing or an extra part of Amniocentesis is not able to test for these kinds the family with the same condition. fetus) from the uterus. The procedure is done in a a chromosome, causes many changes in the way an of problems. doctor’s office or a hospital, usually when a woman is unborn baby develops, and almost always leads to The parents are carriers of an about 16 weeks pregnant, counting from the first day serious physical birth defects, mental retardation Who should consider inherited disease of her last menstrual period. or both. amniocentesis? If the parents of the unborn baby have been Before the procedure, the doctor performs an The most common chromosome abnormality is Down Risk of foundhaving a to child be with carriers a chromosome of an inheriteddisorder disease, the (numbers are approximate) ultrasound or sonogram, which shows a picture of syndrome, caused by an extra #21 chromosome. The American College of Obstetricians and pregnancy is at increased risk for the child to be the uterus, the placenta, the amniotic fluid and the People with Down syndrome have a distinct physical Gynecologists recommends that all women, affected. Many inherited diseases today can be regardless of age, consider the option of diagnosed prenatally. fetus on a screen. After reviewing the image, the appearance, varying degrees of mental retardation 1 in doctor inserts a very thin needle through the woman’s and certain birth defects such as congenital amniocentesis for the diagnosis of chromosome 7 abdomen into the uterus and takes out approximately heart disease. The most common chromosome abnormalities. one ounce of amniotic fluid (see drawing below). This abnormalities account for about two-thirds of all the In the past, only older women were offered part of the procedure lasts only a few minutes. After chromosome abnormalities that can be detected by amniocentesis because the risk for the most 1 in the sample is taken, another ultrasound check is done. amniocentesis. The uncommon ones usually involve common chromosome abnormalities was known Maternal Age Risks for 9 missing or extra parts of chromosomes. to increase with maternal age (see chart below). Chromosome Disorders Some women say that an amniocentesis does not hurt in Pregnancy at all, while others say they feel pressure or cramping The standard laboratory testing detects over 99% of However, there are now non-invasive screening tests performed on a sample of a woman’s blood (numbers are approximate) 1 in during the procedure. Often, people find that waiting all chromosome abnormalities. The results are usually 12 for the test results is the most difficult part. available within 10 days. that can more accurately identify her specific risk for these common chromosome abnormalities. Testing for inherited diseases 1 in Therefore, a woman may choose one of the 15 A woman may have amniocentesis because her following options: to have a blood test to screen for pregnancy is known to be at risk for one of the 1 in the common chromosome abnormalities, followed 20 inherited diseases that can be tested for prenatally. by an amniocentesis if the screening test shows 1 in Examples include Tay-Sachs disease, cystic fibrosis an increased risk; or to have diagnostic testing by 24 and sickle cell disease. Test results are usually available amniocentesis first, without screening. 1 in 30 1 in in 1–5 weeks, depending on the test performed. 40 1 in 1 in 50 1 in 65 1 in 1 in 80 1 in 100 1 in 1 in 130 1 in 1 in 170 1 in 1 in 270 200 1 in 1 in 340 320 385 370 500 450

15-24 25-29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 Age of mother www.mytestingoptions.com Integrated Genetics (800) 848- 4436