YOU WOULDN’T IGNORE YOUR “DUE DILIGENCE” RESPONSIBILITIES AT WORK: WHY WOULD YOU DO LESS FOR YOUR OWN PREGNANCY??

• 2-3% of babies are born with a serious genetic problem.
• Most are NOT Down syndrome.
• Most of them are NOT maternal age related.
• Very popular maternal blood tests (NIPT) have limited coverage providing a false sense of security—leaving families often unknowingly settling for a limited percentage of overall genetic risk information that is readily available.
• Newer, more sophisticated evaluations can detect many more serious genetic problems.
• Comprehensive genetic counseling and evaluation are critical to empower patients to reach whatever decision they feel is best for them.
• There is no test that can guarantee anyone a perfectly happy, healthy baby.
• However, newer, more comprehensive testing can detect the vast majority of them that previously was not possible leaving only a small “residual risk”.

Welcome to Comprehensive Genetics

Comprehensive Genetics/Mark I. Evans, MD PLLC provides a comprehensive program of state-of-the-art and groundbreaking reproductive genetics services and has one of the most experienced teams available for prenatal screening, diagnosis, and therapy in the United States.

Over the past 40 years, Dr. Evans and his associates have developed, perfected, and introduced a large number of new prenatal procedures for women concerned about the health of their developing fetus. We routinely see patients from all over the United States and abroad who are referred to us because we have among the world's most expertise at a number of highly specialized procedures such as CVS, fetal reduction, fetal tissue sampling, amniocentesis, genetic ultrasounds, and fetal therapy. As a first step, using diagnostic testing with laboratory molecular technologies, we can provide 1-2 day results for certain diagnoses such as Down syndrome with a higher degree of certainty than blood tests. Cutting edge laboratory evaluation of CVS or amniocentesis specimens can then investigate literally hundreds of more serious disorders that collectively are far more common than Down syndrome. Many of these don’t appear clinically until 1 -2 years of age. We also collaborate with some of the most specialized doctors and laboratories around the world in their areas of expertise to offer our patients leading-edge care as appropriate for their specific situations.

Changing the Philosophy of Prenatal Evaluation

Historically, limited obstetric care and evaluations began slowly in the first trimester of pregnancy, then increased in the second and third trimesters, and generally included weekly visits in the last month. The explosion of technologies in ultrasound and laboratory diagnostics now allow 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 second trimester to the first trimester for genetics and more intensely at the end to optimize timing and method of delivery.

Who Needs Our Services

One of the long-standing misconceptions in general parlance, is that the individual risk of having a genetic abnormality is almost exclusively borne by women over age 35. While this is somewhat true for Down syndrome, the risk of most other and comparably serious and equally prevalent problems occur independent of maternal age.

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. They may also 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 over 40 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 a healthy family.

Our overall practice philosophy is to put our patients in as much control of their own destiny as they want.

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

• Initial ultrasound genetic history evaluation at about 12 weeks from the last period for very early anatomic evaluation -an early “anatomy scan” - including nuchal translucency (thickness of back of fetal neck) which is a marker for multiple fetal abnormalities.
• Advanced maternal age (AMA): commonly >35 years of age (although this is an outmoded limitation).
• Patients of all ages because with the availability of higher “magnification” methods such microarrays used for the 15 years and now Whole Genome Sequencing, the detection of serious problems is mathematically equivalent for Down syndrome incidence to a 40 year of age for all patients regardless of their age.
• We offer comprehensive carrier screening for Mendelian disorders such as cystic fibrosis, Tay Sachs, the Ashkenazi panel, Sickle Cell, and now literally hundreds of disorders that typically require both parents to be carriers.
• Multifetal pregnancies (twins and higher) with or without AMA.
• Suspicion of genetic/congenital problems in the current pregnancy
• History of genetic/congenital problems in previous pregnancies or other family members
• Patients desiring only screening for common chromosome abnormalities such as Down syndrome by blood tests such as NIPT and Nuchal translucency (NT) .
• Assessment of other markers along with 3D and 4D ultrasound assessment, and Doppler flow
• Pre-eclampsia screening