Comprehensive Genetics
Dr. Mark I. Evans, MD PLLC
Phone (212) 744 2590
Fax (212) 879 2606
131 E 65TH ST
NEW YORK NY 10021-7006
Evans@CompreGen.com
Comprehensive Genetics/Mark I. Evans, MD PLLC provides a comprehensive package of state-of-the-art and ground-breaking reproductive genetics services and has one of the most experienced teams available for prenatal screening, diagnosis and therapy.
For over 20 years, Dr. Evans and 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 procedures, amniocentesis, and fetal therapeutic procedures. Using molecular technologies, we are able to provide literally next day results for certain diagnoses such as Down Syndrome. We also collaborate with some of the most specialized experts in their areas of world-wide expertise to offer our patients leading edge care as appropriate to their specific situations.
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SCREENING and COUNSELING
First-Trimester Ultrasound, Nuchal Translucency, First-Trimester Instant Risk Assessment Screening Program, and Ashkenazi Jewish Panel
DIAGNOSTIC TESTING
Prenatal Diagnosis via Amniocentesis and Chorionic Villus Sampling (CVS)
TREATMENTS
Multifetal Pregnancy Management
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 which increase their chances of either not taking home any children or having children who may have serious physical or neurological/developmental problems. Over more than 20 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. These include among others:
Advanced maternal age (AMA) (commonly >35 years of age)
Multifetal pregnancies with or without AMA
Suspicion of genetic/congenital problem in the current pregnancy
History of genetic/congenital problems in previous pregnancies
Evaluation for risk status in the current pregnancy with Instant Risk Assessment Screening Program
Our Services
Enhanced Genetic Screening Program
CARRIER FREQUENCIES OF COMMON GENETIC DISORDERS
"Ashkenazi Jewish Panel"
SCREENING
- Enhanced genetic screening (EGS) program including:
- The first trimester Instant Risk Assessment Program (IRA) using Nuchal Translucency (NT) screening run in conjunction with NTD labs
- Genetic counseling
DIAGNOSTIC TESTING
- Diagnostic ultrasound (2D and 3D)
- Chorionic villus sampling (singleton and multiple pregnancies)
- Genetic Amniocentesis
- Fetal tissue biopsy (muscle, skin, or liver)
- Fetal therapy
- Multiple pregnancy management
Enhanced Genetic Screening Program
The enhanced genetic screening (EGS) program is often used as the framework in which many of our services are provided, though our services are also offered separately. Steps in the EGS program:
- The Genetic counselor or physician obtains and analyzes a couple's family history, personal history, ethnic groups, medications, and other factors, to determine if there are any risk factors for genetic abnormalities above the average 3% population risk of having a baby with a birth defect.
- To identify carrier status for genetic disorders, blood-screening tests are offered as appropriate to the couple's ethnic group or groups. For example, patients of Ashkenazi Jewish descent can be tested for a set of disorders including Tay-Sachs and Canavan diseases; patients of African heritage are tested for sickle-cell anemia; those of Mediterranean origin are at high risk particularly for β-thalassemia; and those of Asian descent are at high risk for α-thalassemia.
- To clarify the risks for Down syndrome and other genetic abnormalities, screening via first-trimester ultrasound, including nuchal translucency measurements, is performed in conjunction with blood tests.
- For those patients found to be at elevated risk, we perform prenatal diagnostic tests as indicated. Chorionic villus sampling in the first trimester, or amniocentesis in the second, is used to determine chromosomal status, such as in Down syndrome. DNA tests are used for disorders such as cystic fibrosis, Tay-Sachs, or sickle-cell anemia.
Genetic Counseling
Our geneticists/genetic counselors obtain detailed family histories, analyze inheritance patterns, identify at-risk individuals, and help prospective parents to understand their particular genetic risks, options, and likely outcomes in pregnancy. Working with Dr Evans, the counselors explain the often-complex world of new genetic tests and help patients make important decisions about their pregnancies.
CARRIER FREQUENCIES OF COMMON GENETIC DISORDERS
CYSTIC FIBROSIS
| White, Non Jewish European Background | 1/25 |
| White, Jewish European Background | 1/24 |
| Hispanic | 1/46 |
| African American | 1/49 |
The "Ashkenazi Jewish Panel"
Recent advances in genetics have led to the expansion of carrier screening for individuals of Ashkenazi Jewish ancestry. For decades screening was available only for Tay-Sachs disease. With advanced capabilities over the past decade, screening is now available for nine conditions. The conditions include: three progressive neurological conditions that begin in infancy: Tay-Sachs disease, Canavan disease, and Niemann-Pick disease, a chronic illness of the respiratory and gastrointestinal systems; cystic fibrosis, an enzyme deficiency that causes bone and joint pain as well as liver and spleen enlargement; Gaucher type 1, a chronic blood disorder; Fanconi Anemia, a childhood illness of poor growth and predisposition to some cancers; Bloom syndrome, a disease that affects the "automatic" and sensory functions of the body; familial dysautonomia, and ML4; Mucolipidosis Type 4. The carrier frequencies and detection rates of these conditions are listed in the following table.
Condition/Disease |
Carrier Frequency |
Detection Rate |
Tay-Sachs Disease |
1 in 25 |
Enzyme-99% / DNA-94% |
Canavan Disease |
1 in 40 |
97% |
Cystic fibrosis |
1 in 25 |
95% |
Niemann-Pick Disease |
1 in 90 |
95% |
Gaucher Disease |
1 in 10 |
95% |
Fanconi Anemia |
1 in 90 |
95% |
Bloom Syndrome |
1 in 100 |
95% |
Familial dysautonomia |
1 in 30 |
99.5% |
Mucolipidosis type 4 (ML4) |
1 in 122 |
96% |
First-Trimester Ultrasound, Nuchal Translucency, and First-Trimester Instant Risk Assessment Screening
Ultrasound imaging is a noninvasive technique that is used to look at the fetus within the abdomen. First-trimester ultrasound has emerged over the past several years as the most reliable way of establishing the due date of pregnancy; of determining the number of fetuses, and whether multiple fetuses are identical or fraternal; and of screening for elevated risk of genetic abnormalities, including Down syndrome and cardiac, neural, and limb abnormalities.
During ultrasound, the nuchal translucency (NT) can be established; this measurement determines the thickness of the back of the fetal neck. For over a decade in over 1,000,000 pregnancies NT and blood studies for free β hCG and PAPP-A have been shown to be a very reliable indicator of genetic risks. They have a higher yield of detecting problems than do other markers currently being utilized.
First-trimester screening results usually either increase or decrease the age-related risk of the pregnant woman. For example, the results may describe a 26-year-old woman as having risk of carrying a fetus with Down syndrome equivalent to that of a 40-year old (or vice versa). Research suggests that, by performing first-trimester screening, about 85% of Down syndrome pregnancies can be identified in the first trimester. (The more traditional blood tests in the second trimester can only detect about 60% of cases.) Patients can then use this information to decide whether they wish to have definitive testing such as CVS, to obtain a specific diagnosis in the first trimester.
In general, data suggest that first-trimester screening is more sensitive than that in the second trimester or than using maternal age alone. Also, early screening allows early diagnosis of fetal abnormalities, giving parents more time to exercise treatment and management options.
The goal of screening is to maximize the chance of finding a problem that might be there while at the same time minimizing the number of women who require diagnostic (definitive) testing to be certain. Patients have a finger stick blood sample taken at 9-11 weeks. Then, at 11-13 weeks we perform the first trimester ultrasound and measure the thickness of the back of the neck - referred to as the Nuchal Translucency (NT) measurement. Accurate measurement of the NT is critical, as its results are used in a formula combined with the gestational age of the fetus (as measured by its length), the age of the mother, and the results of the β hCG and PAPP-A blood tests. While the patient is in our office having the
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Prenatal Diagnosis via Ultrasound
Genetic ultrasound is part of every diagnostic procedure we perform. Assessment of fetal structure and sometimes function allows for the reassurance of normality in the majority of instances. Unfortunately, we also find pregnancies in which there are significant structural abnormalities which can vary from minor to severe to lethal. We use the latest machinery that provides the highest resolution in both 2 dimensions and 3 dimensions.
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Prenatal Diagnosis via Amniocentesis and Chorionic Villus Sampling (CVS)
Many inherited conditions can be diagnosed prenatally, via CVS or amniocentesis. These procedures have identified chromosomal abnormalities, such as Down's syndrome, and neural tube defects, such as spina bifida. Recently, however, explosive growth in DNA testing technology has made it possible to detect literally hundreds of additional genetic disorders, including Tay-Sachs, cystic fibrosis, Duchenne muscular dystrophy, and sickle-cell anemia, to name a few.
We employ molecular technologies that allow us to achieve results for certain conditions such as for Down Syndrome usually within one day after the procedure.
Amniocentesis Amniocentesis was the first method developed for prenatal diagnosis. It is usually performed between 15 and 20 weeks from the beginning of the last menstrual period. Under the guidance of ultrasound, a very fine needle is inserted through the woman's abdominal wall and into the uterus. Approximately one ounce of fluid is withdrawn and sent to the laboratory for analysis. In experienced hands, genetic amniocentesis is a very safe test. A limitation of amniocentesis is that reassurance or diagnosis of problems does not occur until the second trimester.
Chorionic Villus Sampling (CVS)Chorionic villus sampling or CVS is the first-trimester procedure for prenatal diagnosis of fetal chromosomal and genetic disorders, usually performed 11 to 13 weeks from the beginning of the last menstrual period. The procedure can be done one of two ways. In singleton pregnancies, most of the time the patient is placed in sturips, and a speculum is inserted as for a Pap Smear. A small catheter (like a straw) is passed painlessly through the cervix and maneuvered into the placental tissue. A syringe is then attached to the end of the catheter and a very small amount of tissue is aspirated. In some cases (about 15% of the time) depending upon the position of the placenta, a needle may be inserted transabdominally and maneuvered into the placenta (not the fluid). In either case several milligrams of tissue are sent to the lab. Tests can then be performed for chromosomal (e.g. Down Syndrome) molecular diagnosis (such as cystic fibrosis, or FISH for a quick read of chromosomes such as Down Syndrome), or enzymatic analysis (for some biochemical disorders).
We commonly perform CVS for diagnosis of singleton pregnancies at elevated risk for birth defects; for diagnosis in multiple pregnancies prior to reduction, to help ensure the health of fetuses remaining after the procedure; and for patients who have undergone preimplantation genetic diagnosis (PGD) with in vitro fertilization, who need post-implantation confirmation of the normalcy of the fetus.
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Very Early Chorionic Villus Sampling
In Orthodox Judaism, reproductive choice is considered acceptable up to 40 days after conception (7weeks and 5 days after the last menstrual period). When religious reasons require a diagnosis before 40 days gestation, the CVS procedure can be done as early as 7 weeks. When performed at very early gestational ages, CVS has higher risks of pregnancy loss and potential for damage to the fetus. While such risks are low in absolute terms they are much higher than when CVS is performed by us at the usual 11-13 weeks. However, for couples for whom their religious beliefs require a diagnosis by 40 days post conception, such a trade off of increased risks may be acceptable.
Tests utilizing the DNA in fetal tissues have made possible via CVS the diagnosis of disorders such as Duchenne muscular dystrophy. Sometimes, however, DNA tests cannot give a definitive answer, and the only way to get the answer is by obtaining a piece of fetal muscle, or liver. Over the past 20 years, Dr. Evans has performed more fetal muscle biopsies than anyone else, worldwide.
Similarly, some skin abnormalities and certain chromosomal abnormalities can only be diagnosed by obtaining a piece of fetal skin. These biopsies are performed without a hospital stay, and under ultrasound guidance.
The diagnosis of a serious disorder in a fetus is a devastating event for all involved. In many cases, there may be little that medicine can offer, aside from help in preparing for the birth of child with special needs, or the option to terminate the pregnancy. In some situations, however, there is another alternative: treating the disorder before birth.
Today, the IGFM provides you with world-class expertise in this area. The institute's director, Dr. Evans, developed the first method for preventing a congenital defect before birth (congenital adrenal hyperplasia); performed the first successful stem cell transplant to cure a baby with SCIDS (the "bubble babies"); was a member of the team that did the first successful open fetal surgery (for congenital diaphragmatic hernia); and is one of the most-experienced at performing fetal shunt procedures, such as for obstructed fetal bladders. He works with colleagues all over the country to provide cutting-edge therapies in pregnancies with correctable problems.
Multifetal Pregnancy Management
Over the past decade, the number of twin pregnancies has more than doubled. There has been a 13-fold increase in triplets, the rate of quadruplets has increased 100 times, and there had been a 1,000-fold increase in quintuplets. For patients with multiple pregnancies, the risks of loss, prematurity, congenital anomalies, and poor neonatal outcomes are dramatically higher than for singletons. Over the past 20 years, Dr. Evans has been a pioneer in the practice of multifetal pregnancy reduction (MFPR) having performed thousands of such procedures for patients starting with between 2 to as many as 12 fetuses. The procedure has been demonstrated to be a safe way to significantly reduce the risks of multiple pregnancies. Patients with triplets or higher have their risks cut by more than half by reducing to twins. For twins, the risk of pregnancy loss and prematurity can be further cut by reducing to a singleton. We typically see patients for MFPR at about 11 weeks. For the 80% of our patients who are also having CVS, the procedures are done usually on two consecutive days.
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Inherent in being at the leading edge of reproductive genetics, multiple pregnancy management, and fetal therapy is the commitment to developing new methods, and teaching the field through lectures, training, and the published medical literature. Dr Evans routinely lectures to physicians all over the world, and has published more than 1000 scientific articles, reviews, abstracts, and book chapters. He has published 30 textbooks.
Over the last 30 years, our research has focused on a number of areas related to the health of pregnancy including playing a major leading role in:
CVS
Multifetal pregnancy reduction
Screening for genetic risks (e.g. Down Syndrome)
Finding fetal cells in maternal blood
Early amniocentesis
Early CVS
Fetal muscle biopsies for Duchenne Muscular Dystrophy
Medical Correction of birth defects (e.g. congenital adrenal hyperplasia)
Fetal surgical correction of anomalies (obstructed bladders, congenital adrenal hyperplasia)
Fetal genetic/stem cell transplants to treat X-SCIDs (the bubble babies)
Patient's understanding of risks and options
How patients "frame" decisions
Dr. Evans has been the Charolotte B. Failing Endowed Chair and Distinguished Professor of Obstetrics & Gynecology, Professor of Molecular Medicine and Genetics, and Professor of Pathology at
Every year, together with Dr. Kypros Nicolaides who directs the Fetal Medicine Foundation in
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Dr. Evans and The-Hung Bui Professor of Obstetrics & Gynecology at the Karolinska Instituite, Stockholm |
Dr. Evans and Dr. Kypros Nicolaides, President of the Fetal Medicine Foundation and Professor and Chairman of Kings College Hospital, London |
We also believe that education of the public is essential to improving the public health. Dr. Evans has been a frequent contributor to the media having appeared over the years on Nightline, NBC, CBC, and ABC National News
Good Morning America, Today, Early Show, CNN, Discover, PBS, Larry King, and Phil Donoghue, and been quoted regularly in the New York Times, Wall Street Journal, Washington Post, and others.
