Groundbreaking reproductive genetics services
For more than 30 years Dr. Mark I. Evans and associates have developed and delivered a large number of new prenatal procedures for women concerned about the health of their developing fetus.
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
Enhanced genetic screening (EGS) program includes:
- Offering first trimester chromosomal risk evaluation either by combined Screening Program using Nuchal Translucency (NT) + free β hCG and PAPP-A screening run or cell free fetal DNA screening.
- Offering pan ethnic comprehensive screening for Mendelian disorders such as cystic fibrosis, Tay Sachs, and the Ashkenazi panel, Fragile X, spinal muscular atrophy and over a hundred other disorders that can have serious consequences to an affected individual.
- Genetic counseling- to review and explain all the above to couples so they can make whatever decisions they feel appropriate for them.