Dr. Mark I. Evans

Blood tests do not provide the comprehensive results that CVS provides.

1st Class IVF - 2nd Class Genetics: Can We Do Better? Dr. Mark Evans, MSREI Lecture - 11/11/15 Dr. Mark Evans, guest lecturer for the semiannual MSREI meeting provides insights about advantages, limitations, and sensible utility of preimplantation and ...

Non-invasive testing is flawed. Reach out to us at [email protected] to discuss accurate alternative approaches to genetic testing.

Non-Invasive Prenatal Screening Tests May Have False Results Pregnant patients should discuss test results with a health care provider before making any decisions about their pregnancy

May your New Year be full of wonder and joy.

Wishing you a restful and peaceful Thanksgiving.

Go to www.compregen.com for more information.

We are still seeing patients during the uptick in COVID. Please arrive masked and call our office if you don’t feel well.

Are you screening or diagnosing?
Diagnostic tests are:
1. Meant to give a definitive answer
2. Are commonly expensive
3. May have risks.
4. Only done on patients who are “at risk.”
Screening tests are:
1. Meant for everyone
2. ONLY adjust odds.
3. Do NOT give a definitive answer.
.mark.i.evans

Thinking about expanding your family? We provide comprehensive genetic testing for individuals and couples seeking to determine their genetic health prior to beginning the process. Contact us through www.compregen.com for more information.

Comprehensive Genetics 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.

What is FISH testing?
In the early 1990s, fluorescent in situ hybridization (FISH) was first developed in which probes that lined up with known sequences of DNA were developed to allow a rapid assessment. At the beginning as with many technologies there were technological hurdles to overcome, but once that was achieved, FISH has served for about 20 years as a reliable technique for rapid diagnosis certainly of the common problems such as Trisomies 13, 18, 21, and the s*x chromosomes. We use FISH routinely (virtually all cases) in the evaluation of prenatal diagnosis cases (CVS/amniocentesis) to get the answers to the common chromosomes which have most of the abnormalities seen, and we get them overnight

SAFETY OF GENETIC TESTING
Amniocentesis was first attempted in the mid- 1960s and only for the highest risk situations. Procedure complication rates were estimated at about 2% or more. There was no ultrasound available to guide. Palpation of the abdomen was used to try to determine the position of the fetus to place the needle elsewhere. Considerable skill was required to be able to feel in the operator’s fingers the density gradients as one passed the needle through different tissue levels until resistance gave way as the needle entered the fluid of the amniotic cavity.
In the 1980s as ultrasound guidance became feasible and a cadre of physicians who specialized in such procedures emerged, the safety and accuracy of amniocentesis increased. Simultaneously, chorionic villus sampling (CVS) began as a 1st trimester alternative which had the major advantage of privacy as the procedure was done a full month earlier and results came back quicker. At the beginning, I had one of only 15 FDA granted investigational device exemptions to test the CVS catheters. In 1990, the FAD granted approval for routine use. Utilization of CVS in experienced centers such as mine, then in Detroit, dramatically increased approaching 50% of all procedures. In the early 90s there were concerns raised about a possible association of limb reduction defects, but these were disproven.
In experienced hands, CVS and amniocentesis are both very safe procedures and equally so. The attributable procedure risk is in the 1/800 to 1/1000 over the normal background rate of loss. The real debate that patients should be having is whether they are happy with an odds adjustment (Gallop poll) – as comes from screening procedures like NIPT or diagnostic ones (election results) from CVS or amnio. Since the 2 procedures are equally safe, early answers and privacy have many advantages.

WHAT ARE BIRTH DEFECTS?
5% of all babies are born with a genetic malformation.
These can be divided into 3 categories:
1. Mendelian disorders such as cystic fibrosis, sickle cell anemia, Tay Sachs, and hundreds of others. Some are relatively common; others are extremely rare. The emergence of “pan-ethnic” panels allows for the identification of couples at high risk without having had an affected child first. These are collectively more common than Down syndrome – especially for women under 35 years of age.
2. Multifactorial disorders such as spinal, cardiac, and psychiatric disorders. Multifactorial means there is no “yes/no” switch. A variety of factors contribute to whether a baby is affected or not. Some vary by ethnic backgrounds. For example, historically neural tube defects (spina bifida and anencephaly) have been highest in patients of Northern Irish background. Japanese have among the lowest in the world. Screening for this has been done by maternal serum alpha fetoprotein since the 1970s, and ultrasound can now identify a high majority of these.
3. Chromosomal disorders such as Down syndrome and microduplications and deletions that can be found by CVS/amnio and microarrays.

Do you fully understand your risk for Trisomy 21? We provide genetic counseling for parents who waited to determine their risks moving forward. Contact us for a telehealth genetic consultation.

Pregnancy during a pandemic can be overwhelming. We are taking added precautions during COVID to keep patients safe. Call or email us to schedule high resolution imaging or genetic testing with enhanced precautions.

Pregnant and worried about COVID-19? - Harvard Health Blog If you are pregnant, naturally you have concerns about COVID-19 and its potential effects on you and your fetus or newborn. Although there is limited data on the new coronavirus and pregnancy, some questions can be answered.

WHAT NIPT MISSES:
​NIPT in most labs covers the 5 major chromosomes for survivable anomalies
a. Trisomy 21
b. Trisomies 13 and 18
c. S*x chromosomes
However, the number of such problems that can be detected by NIPT is

“In his career, Dr. Evans has been at the forefront of medical advancements in prenatal diagnosis and fetal therapy. He developed the method for the first pharmacologic prevention of a fetal birth defect and was the first to successfully carry out in utero stem cell transplantation for X-SCIDS (“bubble baby” with no immunity). Dr. Evans was part of the team to perform the first open fetal surgery for diaphragmatic hernia, and he did the first fetal reductions of high order multiples in USA.”

Mark I. Evans, MD - Marquis Who's Who Top Doctors Mark I. Evans, Obstetrician and Geneticist, has been recognized by Marquis Who’s Who Top Doctors for dedication, achievements, and leadership in prenatal diagnosis, genetics, obstetrics and gynecology, and fetal therapy.

My approach has always been to put patients/couples in as much control of their own destiny as possible.
.mark.i.evans

Chorionic villus Sampling: The major advantages of CVS are 1. It is performed a month earlier in pregnancy and 2. The results come back from the lab quicker (about a week). The combination of these results in giving the couple much more privacy in their reproductive decisions. .mark.i.evans

There is no more exhilarating and yet frightening experience than being pregnant. Everyone hopes for a healthy, happy baby. Fortunately, most are. However, the reality is that 2-3% of all babies are born with a serious problem many of which could be detected early in pregnancy using state of the art genetic diagnostics.

The does not detect many abnormalities in the growing fetus. To determine comprehensive health of a growing fetus, we perform , sampling of the placenta to obtain fetal .