Prenatal Screening and Diagnosis

Prenatal Screening and Diagnosis

With the explosion of technology in ultrasound and laboratory diagnostics we are able to offer earlier testing in Pregnancy

Prenatal screening

Prenatal screening tests, a non-invasive technique, have been developed in an effort to establish the specific risk a fetus has for specific abnormalities, such as Down syndrome.  The main benefit of screening tests is that they provide risk information without putting the pregnancy at risk for a complication such as a miscarriage. These tests use information from a pregnant woman’s blood and/or from a targeted ultrasound examination of the fetus, to determine whether the fetus is at risk for Down syndrome, other chromosome abnormalities, and/or specific birth defects.  It provides the couple a risk assessment (odds ratio) of certain chromosomal abnormalities.

Prenatal Diagnosis

Chorionic Villus Sampling (CVS)
Chorionic Villus Sampling (CVS) is a prenatal diagnostic procedure usually performed at 11 to 13 weeks gestation.  The cells obtained from the procedure are then analyzed in a lab to look for specific chromosomal and/or genetic disorders, depending on your clinical history.  This provides the couple with an earlier, definitive chromosomal analysis and helps to ensure the health of your child.  Using molecular technologies, you will be provided next day results for certain diagnosis such as Down Syndrome.

Amniocentesis
Amniocentesis is a prenatal diagnostic procedure that is performed between 16 – 20 weeks gestation.  Amniotic fluid, which is the fluid that surrounds the fetus, contains cells that have naturally shed off the fetus.  During the procedure, a small amount of amniotic fluid is removed and the cells within the fluid can then be evaluated by the lab to test for chromosomal and/or genetic disorders.

The decision to pursue screening and/or diagnostic testing is individual, and patients may choose not to pursue any testing during their pregnancy.

Previous recommendations stated that women who are 35 years or older at the time of delivery should consider prenatal diagnosis. However, in 2007 the American College of Obstetricians and Gynecologists (ACOG) released new recommendations stating the following.

All women regardless of age should have the option of diagnostic testing, such as CVS or amniocentesis.

For patients who do choose screening, it is important to remember that perception of high and low risk varies, and the choice to pursue diagnostic testing is personal.  Once you receive your screening result, you may decide that your risk assessment is low enough that you are comfortable not undergoing diagnostic testing for chromosome abnormalities.  Or, you may feel your risk assessment is higher than you are comfortable with, and you would like diagnostic testing to determine whether or not a chromosome abnormality is actually present in the pregnancy.

Who Should Consider Pre-natal Diagnosis?

Previous recommendations stated that women who are 35 years or older at the time of delivery should consider prenatal diagnosis. However, in 2007 the American College of Obstetricians and Gynecologists (ACOG) released new recommendations stating the following.

All women regardless of age should have the option of diagnostic testing, such as CVS or amniocentesis.

Additionally, prenatal diagnosis should be considered for the following:

Again, with Dr. Rubenstein’s unique relations with world renowned perinatologists, who specialize only in prenatal diagnosis, he is able to refer you to one of the most regarded physicians in high risk obstetrics and reproductive genetic services.