YOU WOULDN’T IGNORE YOUR “DUE DILIGENCE” RESPONSIBILITIES AT WORK: WHY WOULD YOU DO LESS FOR YOUR 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.
• Trendy maternal blood tests (NIPT) provide 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 is critical to empower patients to reach whatever decision they feel is best for them.

Welcome to Comprehensive Genetics

Comprehensive Genetics/Mark I. Evans, MD PLLC provides a comprehensive package 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 35 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. Using molecular technologies, we are able to provide 1-2 day results for certain diagnoses such as Down syndrome. 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 to their specific situations.

Changing the Philosophy of Prenatal Evaluation

Historically, 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 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 second trimester to the first 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 other and comparably serious and equally prevalent problems occurs essentially 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, 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 over 35 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.

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 (although this is an outmoded limitation).
• Patients of all ages because now with the availability of microarrays, the detection of serious problems is equivalent to >35 years of age for all patients.
• Patients who want comprehensive screening for Mendelian disorders such as cystic fibrosis, Tay Sachs and the Ashkenazi panel, Sickle Cell, and 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
• Desiring screening for common chromosome abnormalities such as Down syndrome by blood tests such as NIPT or Nuchal translucency (NT) combined with serum markers (free βhCG and PAPP-A)
• Assessment of other markers along with 3D and 4D ultrasound assessment, and Doppler flow
• Pre-eclampsia screening