HealthDay News — Updates to recommendations for screening for genetic disorders and fetal aneuploidy have been published in Obstetrics & Gynecology.
Noting that prenatal genetic testing originally focused on Down syndrome, Mary E. Norton, MD, from the Society for Maternal-Fetal Medicine, and colleagues discuss its use for detecting varied genetic disorders. In order to definitively detect most genetic disorders, amniocentesis or chorionic villus sampling is necessary. In some circumstances, fetal imaging with ultrasonography, echocardiography, or magnetic resonance imaging may be diagnostic for a specific fetal abnormality indicative of a genetic condition. Prenatal genetic testing cannot identify all abnormalities or problems in a fetus, and should be tailored to individual patient risks. Patients should understand the benefits and limitation of prenatal screening and diagnostic testing.
Nancy C. Rose, MD, previous chair of the American College of Obstetricians and Gynecologists’ Committee on Genetics, and colleagues discuss the available screening test options for fetal aneuploidy and their associated benefits, accuracy, and limitations. The authors note that prenatal screening for aneuploidy assesses a woman’s risk of carrying a fetus with one of the more common fetal aneuploidies. A wide variety of screening test options are available, each of which offers different information and accuracy, resulting in the need for complex counseling by health care providers and complicated patient decision making. No one screening test is superior in all test characteristics, with relative advantages and disadvantages seen for each test.
“Testing should be an informed patient choice, congruent with shared decision making,” Dr Rose said in a statement. “Women also have the right to decline both genetic screening and testing, and all decisions should be supported.”