Genetic testing, screening and counseling is the process of providing individuals and families with information on the nature, inheritance and implications of genetic disorders to help them make informed medical and personal decisions. Ultimately, the decision to undergo prenatal genetic testing and screening is something each woman decides for herself based on individual indications and personal philosophy. Some prenatal tests are screening tests and only reveal the possibility of a problem or give a risk ratio for the baby having a problem/condition. Other tests are diagnostic, which means they can determine — with a fair degree of certainty — whether a fetus has a specific problem. In the interest of making the more specific determination, the screening test may be followed by a diagnostic test.
Prenatal genetic testing is further complicated by the fact that more abnormalities can be diagnosed in a fetus than can be treated or cured. In addition, some tests carry inherent risks as the procedure is both physically and emotionally invasive [see our information on ultrasound].
Tests and screens are performed through a variety of methods. Most common tests utilize maternal blood analysis, analysis of fetal DNA (through amniotic fluid or placental tissue or now via cell free DNA testing), or ultrasound. A decision-making tool with an overview of and timeline for the specific tests and screens can be found here.
Comprehensive genetic screening is offered by the Philadelphia Pregnancy Center where we can send a referral on your behalf at your request. You may also pursue this screening through a hospital-based OB or Nurse-Midwifery practice.