Rationale for replacing IVIG with Intralipid (IL) for immunological pregnancy loss
by Christo Zouves, M.D.
Recurrent Pregnancy Loss The reason that an embryo may not implant successfully is either because there is something intrinsically wrong with the embryo itself or there may be something wrong with the uterine environment either a physical problem or a problem at the molecular level that causes a normal embryo not to implant. continued…
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Recurrent Loss or Failure After IVF, Could it Be Abnormal Immunology?
by Christo Zouves, M.D.
When sperm meets egg, creating an embryo, an individual, genetically different from the mother, is nurtured within the uterus until delivery. Fortunately, the maternal immune system responds in a protective way in the majority of pregnancies. In some pregnancies, the implanting embryo elicits an aggressive response and this abnormal response can result in failure to implant, very early loss as in a chemical pregnancy, first trimester miscarriage or even placental insufficiency and decreased fetal growth in the second and third trimester. continued…
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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…
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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…
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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…
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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…
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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…
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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…
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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…
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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…
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