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Home > News/Events > Articles of Interest
Articles of Interest
Fragile X syndrome
by Amy Vance, MS, CGC
What is fragile X syndrome?
Fragile X syndrome is one of the most common inherited forms of mental retardation. Both males and females can be affected, but females are usually less severely affected than males. Mental retardation ranges from mild to severe. Learning disabilities and behavioral problems are likely to be seen in this condition. Physically, individuals with fragile X may have a long, narrow face, large jaw with a prominent chin, large ears, and macroorchidism (large testes). The facial features become more apparent with age.
continued...View entire article (PDF format)
The Genetic Revolution
by Christo Zouves, M.D.
The ability to fertilize egg and sperm outside the human body has changed the face of human reproduction
forever. Since the birth of the first IVF baby in 1978, more than 300,000 children have been born through
assisted reproduction technology (ART). We can now remove eggs from one female to help another achieve
pregnancy; we can remove sperm directly from the testicle, allowing men to father a child who would otherwise
not be able to. We can inject a single sperm into an egg to promote fertilization, virtually eliminating
severe male factor and most vasectomy reversals. We can transfer the gametes of one couple to a host uterus,
allowing implantation and pregnancy to occur.
continued...View entire article (PDF format)
Breakthrough Sperm Test Predicts Male Fertility Potential
(Sperm Chromatin Structure Assay, SCSA)
by Christo Zouves, M.D.
In the early days of in-vitro fertilization (IVF), couples with a male factor where sperm count, motility or
morphology was decreased, achieved lower levels of success with IVF than couples where the sperm parameters were
normal. Then, in 1992, along came intracytoplasmic sperm injection (ICSI) which allowed us to inject one single
sperm into each egg, and we were able to achieve fertilization rates and pregnancy rates appropriate for the age
of the egg provider.
continued...View entire article (PDF format)
Gestational Surrogacy Zouves Fertility Center
by Christo Zouves, M.D.
What is surrogacy?There are two types of surrogacy. The first, Classical Surrogacy, involves the insemination of a surrogate with the sperm of the father-to-be. The surrogate contributes her genes to the make-up of the child, carries the baby to term, and then gives up the child for adoption to the Intended Parents at birth. At Zouves Fertility Center, we only perform Gestational Surrogacy, where the woman who carries the child does not contribute her gametes to the equation. The eggs are obtained from the genetic mother and the sperm from the genetic father. The resulting embryos are incubated in the uterus of a surrogate who undergoes prior hormonal preparation. At birth, the surrogate gives the child back to the Intended Parents. Depending upon the State where the birth takes place, there may be issues of custody and the Intended Parents might have to undertake formal adoption procedures to acquire legal custody of the child. In some states, the name of the Intended Parents rather than the surrogate (the birth mother) will appear on the birth certificate. However, regardless of legalities, in Gestational Surrogacy, given that the eggs are not supplied by the surrogate, there can be no real debate as to who the rightful parents are. continued...
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Cystic Fibrosis Screening
(Two Case Reports and Discussion of a Screening Algorithm)
by Amy Vance, MS, CGC
Preconception and prenatal screening for cystic fibrosis (CF) was recommended in 2001 by ACOG and physicians are increasingly
ordering CF testing and interpreting results. CF mutations are relatively common, with about 1 in 29 Caucasians being carriers of
a CF mutation. One of the greatest challenges of CF screening is that there are over 1300 known mutations in the CFTR gene.
The frequency of particular mutations varies by population, many mutations are private (unique to a single family), and new
mutations continue to be identified.
continued...View entire article (PDF format)
The Importance of Family History Risk Assessment for Ovum Donors
by Amy Vance, MS, CGC
Ovum donors are usually screened about their family history through the use of a questionnaire, usually focusing on first degree
relatives and grandparents. Most gamete donor programs do not utilize genetic counseling services for family history risk
assessment and do not obtain a three generation pedigree. The purpose of this study was to determine the number and type of risk
factors identified in ovum donors in a large fertility clinic.
continued...View entire article (PDF format)
The Importance of Family History Risk Assessment in the Infertility Setting
by Amy Vance, MS, CGC
It is well-documented that three generation family histories are not taken as a routine part of physician visits.
Although genetic counselors routinely obtain a pedigree, couples using assisted reproductive technology may meet with
a genetic counselor only if they are considering prenatal diagnosis. The purpose of this study was to determine the
number and type of risk factors identified in couples undergoing an infertility evaluation.
continued...View entire article (PDF format)
The Purpose of the Genetics Consult
by Amy Vance, MS, CGC
I have been working with Zouves Fertility Center since January 2003, providing genetic counseling for all couples and
ovum donors in their program. People undergoing IVF generally do not receive genetic counseling prior to their cycle.
As a result, the opportunity for applicable genetic testing/counseling in the preconception period is often lost.
Family history risk assessment in an infertility setting allows couples to learn about their genetic risks prior to pregnancy.
For some couples it provides information about the causes of their infertility. Armed with this knowledge, couples at risk of
transmitting genetic conditions may choose to take full advantage of technology such as PGD. The number of couples with a
history suggestive of an increased risk for mental retardation or birth defects in their offspring is relatively low, but screening
all couples is necessary to identify these individuals. For people without an identified risk for mental retardation or birth
defects, most have other diseases in the family which have a genetic component.
continued...View entire article (PDF format)
Commonly Asked Questions About Ovum Donation
by Shelley M. Tarnoff, Esq., JD, LMFT
What is the role of the agency in ovum donation?The ovum donor agency provides profiles of available donors for review by Intended Parents. The profiles contain photos of the donor (and donor's children, if any), medical history, educational/employment background and essays. In most cases the information is self-reporting and not verified. The agency will schedule psychological evaluations of the parties, coordinate medical appointments, manage the escrow account for disbursement of the donor's fee and expenses, arrange for the donor's medical insurance, offer legal referrals and provide support and guidance to the parties throughout the process. The agency also may generate a standard written ovum donation agreement. continued...
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Reducing Stress and Enhancing Well Being During The IVF Cycle
by Shelley M. Tarnoff, Esq., JD, LMFT
Undergoing infertility treatments can be one of the most challenging times in life.
Coping with medical procedures, emotional issues and financial pressures requires determination,
commitment and courage. The following suggestions are offered as ways to reduce stress and enhance
well-being as you proceed with cycle:Educate yourself: Make sure you have had all your questions answered by medical staff. You can also research topics on your own. Having a good base of knowledge about your condition and treatment can decrease anxiety. continued...
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Selecting an Ovum Donor
by Shelley M. Tarnoff, Esq., JD, LMFT
Making the shift to ovum donation can be a challenging one. For many patients coming to terms with the loss
of a genetic connection means letting go of a life long dream. Including a third party in family building
efforts requires an adjustment, and selecting the “right donor” may be a daunting task. In
many cases, Intended Parents look for a “sign” or a “bridge” to connect them to the donor who will be providing
a most important genetic contribution. The connector may be red hair and freckles, a common interest in
classical music, a wacky sense of humor or a love of the outdoors. Although the process of ovum donation
may seem overwhelming at times, the difficulties fade away when you hold the child of your dreams in your arms.
It is important to remember that creating a family through ovum donation may be second choice,
but is never second best.
continued...View entire article (PDF format)
Genetic Risk Assessment
For over thirty years, genetic research has uncovered critical information that has allowed advancements in medicine to enhance health. Genetic counselors translate this scientific knowledge into practical information, helping individuals and families make informed healthcare choices. continued...View entire article (PDF format)
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