Historically, obstetric care and evaluations were limited in the first trimester of pregnancy, increased in the second and third, and included weekly visits in the last month. The explosion of technologies in ultrasound and laboratory diagnostics now allows for earlier, accurate, and therefore private answers to many fundamental components of fetal and maternal health. Thus, we believe that the emphasis of care (and number of visits and tests performed) will move from the third trimester to the first.

Pregnancy should be a time of joy and hope for a healthy family. For many women, however, they have either experienced years of infertility prior to finally achieving a pregnancy, or they have risk factors that increase their chances of not taking home any children or of giving birth to children who may have serious physical or neurological/developmental problems. For nearly 30 years, we have been working with such women and their partners to reduce their risks, test for the health of their future children, and help them maximize the chances of having healthy children.

Typically, we see patients who fall into one or more of several different categories of potential concerns:

• •Advanced maternal age (AMA) (commonly >35 years of age)


• •Multifetal pregnancies with or without AMA


• •Suspicion of genetic/congenital problem in the current pregnancy


• •History of genetic/congenital problems in previous pregnancies


• •Evaluation for risk status in the current pregnancy with Instant Risk Assessment (IRA) Screening Program or for non-invasive prenatal testing (NIPT) with free fetal DNA


• •IRA and other ultrasound evaluations including assessment of other markers along with 3D and 4D assessment, and Doppler flow.

• •Screening for chromosome abnormalities


• •Carrier frequencies of common genetic disorders


• •"Ashkenazi Jewish Panel"


• •Cystic Fibrosis


• •Fragile X


• •Spinal Muscular Atrophy

Enhanced genetic screening (EGS) program including:

• •The first trimester Instant Risk Assessment (IRA) Screening Program using Nuchal Translucency (NT) screening run in conjunction with Perkin Elmer/NTD Labs.


• •Non-invasive Prenatal Testing (NIPT) using free fetal DNA.


• •Genetic counseling.

• •Diagnostic ultrasound (2D, 3D and 4D)


• •Chorionic villus sampling (CVS) for singleton and multiple pregnancies


• •Genetic amniocentesis


• •Fetal tissue biopsy (muscle, skin, or liver)


• •Fetal therapy

• •CVS and amniocentesis


• •Fetal reduction