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 30 years, Dr. Evans and his associates have developed, perfected, and delivered 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 next-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, increased in the second and third trimesters, 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.

Who Needs Our Services

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 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
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, literally hundreds disorders that typically require both parents to be carriers
Multifetal pregnancies 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
Evaluation for risk status in the current pregnancy with combined screening (nuchal translucency + free β hCG and PAPP-A) and cell free fetal DNA
Assessment of other markers along with 3D and 4D assessment, and Doppler flow
Pre-eclampsia screening

Clinical Services

Enhanced Genetic Screening (EGS) Program

Enhanced genetic screening (EGS) program includes:

Pan-ethnic carrier screening for over 100 Mendelian disorders
Carrier frequencies and explanations of common genetic disorders
"Ashkenazi Jewish Panel"
Cystic Fibrosis
Fragile X
Spinal Muscular Atrophy

Screening