In some cases, abnormalities in the development of a fetus require a physician to perform an invasive procedure during pregnancy, such as amniocentesis.
An amniocentesis is a procedure used to obtain a small sample of the amniotic fluid that surrounds the fetus to diagnose chromosomal disorders and open neural tube defects such as spina bifida. Testing is available for other genetic defects and disorders depending on the family history and other factors. An amniocentesis is generally offered to women between the 15th and 20th weeks of pregnancy who are at increased risk for chromosome abnormalities. These include women who are over 35 years of age at delivery or those who have had an abnormal maternal serum screening test, indicating an increased risk for a chromosomal abnormality or neural tube defect.
An amniocentesis involves inserting a long, thin needle through the mother’s abdomen into the amniotic sac to withdraw a small sample of the amniotic fluid for examination. The amniotic fluid contains cells shed by the fetus, which contain genetic information. Although specific details of each procedure vary slightly, generally, an amniocentesis follows this process:
The fluid is sent to a genetics laboratory so that the cells can grow and be analyzed. Alpha-fetoprotein, a protein made by the fetus that is present in the fluid, is also measured to rule out an open neural tube defect, such as spina bifida. Results are usually available in about 10 days to two weeks, depending on the laboratory.
Results are usually available in about 10 days to two weeks, depending on the laboratory.
After an amniocentesis, women may experience cramping, bleeding, or leaking of amniotic fluid. There is also a slight risk of infection. The published risk of miscarriage or any other complication is about one in 200 after an amniocentesis in the second trimester of pregnancy. This is only slightly higher than the normal risk of miscarriage without an amniocentesis at this time in pregnancy.
Some physicians will perform an amniocentesis between 12 and 15 weeks of pregnancy, which is referred to as “early amniocentesis.” When this is the case, the risk for complications is between one in 100 and one in 200.
Amniocentesis helps confirm a tentative diagnosis of an abnormality found with other testing. It may also find that a fetus does not have the abnormality that was suspected. This allows couples to plan the remainder of pregnancy and to consider their options.
Christopher M. Cunniff, MD
Chief, Division of Medical Genetics
Birth Defect Syndromes, Disorders of Sexual Development, Muscular Dystrophy, Fetal Alcohol Syndrome, Autism Spectrum Disorders, Intellectual Disability
Jennifer Bassetti, MD Clinical Genetics, Genetic Testing, Chromosomal Disorders, Dysmorphology, Congenital Anomalies, Autism Spectrum Disorders. Developmental Delay, Intellectual Disability
Lilian L. Cohen, MD Genetic Testing, Genetic Counseling, Birth Defects, Heart Defects, Developmental Disorders, Growth Disorders, Failure to Thrive, Twin Pregnancy
Jessica G. Davis, MD Genetic Disorders, Downs Syndrome, Dysmorphology, Marfan Syndrome, Skeletal Dysplasia, Fanconi Anemia
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