Pre-implantation genetics testing offers new hope to pregnancy challenged couples

For couples who have experienced recurrent miscarriages, unsuccessful IVF cycles or unexplained infertility; as well as women of advanced maternal age; new procedures are available in the form of a genetic diagnosis program designed to help achieve a successful pregnancy.

The Center for Preimplantation Genetics Diagnosis offers a high-tech procedure that selects healthy embryos that are free of chromosomal abnormalities and defects; thus raising the chances of conception and delivery of a healthy baby.

This state of the art procedure is done in lab along with an IVF treatment. After medication is given to the female to stimulate egg production an ultrasound guided needle is used to retrieve eggs from the ovaries. United with sperm, they are placed in an incubator for fertilization and growth to the 4-12 cell stage. One or two cells from each embryo will be biopsied and genetic testing begins.

The center then tests for chromosomal abnormalities like Down syndrome, Turner syndrome and/or Klinefelter syndrome. Testing is also done for single gene inherited defects like cystic fibrosis and/or sickle cell disease.

At this point only embryos free of defects and/or abnormalities would be transferred to the mother’s uterus between day 4 and 5 following egg retrieval.

According to The Center for Preimplantation Genetics Diagnosis,

“PGD technology reduces the potential for adverse pregnancy outcomes for couples ‘at risk’ by testing the embryos for certain genetic abnormalities before they are chosen for transfer back to the woman. For example: 10 embryos resulted from an IVF cycle and through PGD testing, six were identified as genetically abnormal and four were normal. Armed with this knowledge, only the normal embryos would be selected for embryo transfer thereby reducing the possibility of miscarriage or birth defects”.

An expert in the field of optimizing reproductive health for women and men, Cindy Ferda has released her newest book on conception entitled ‘How to Get Pregnant Quickly & Naturally’.

Should women take Prometrium to ward off miscarriage?

To sustain a healthy pregnancy, women must maintain healthy levels of progesterone at all times.

As a woman’s body prepares for ovulation, progesterone levels go up. The corpus luteum can stimulate the production of progesterone for about two weeks and if a conception occurs, the pregnancy itself takes over the stimulation of progesterone. With no pregnancy, the lining of the uterus deteriorates and a period begins.

If a newly pregnant woman’s progesterone level begins to diminish, then miscarriage would be imminent.

Many women who have experienced one or more miscarriages or are known to have a luteal phase defect (LPD) are being presented with a new option by their providers.

Prometrium, a synthetic form of progesterone that may help maintain a pregnancy and ward off miscarriage. Normally prescribed to menopausal women requiring hormone therapy and/or women experiencing abnormal periods, Prometrium can also be prescribed to women experiencing spotting or bleeding early in the first trimester or women with a history of recurrent miscarriage.

Available in tablet form a doctor will generally prescribe a 100-200mg dose to be taken orally once or twice a day. Suppositories and cream are available as well.

To determine the efficacy and safety of progestogens like Prometrium as a preventative therapy against miscarriage, a recent study (by Haas DM, Ramsey PS ‘Progestogen for preventing miscarriage’ Cochrane Database of Systematic Reviews 2008, Issue 2) was conducted on 2118 women who participated in 15 trials. The study revealed no significant difference between progestogen and placebo or no treatment groups for a majority of the participants.

However, in a subgroup analysis of three trials involving women who had recurrent miscarriages (3 or more), treatment showed a statistically significant decrease in the miscarriage rate compared to placebo or no treatment.

Additionally, no significant adverse effects from taking Prometrium were reported regarding mother and child at this time, however many people feel there are not enough facts supporting its safety and warranting its overuse.

According to their own website, the most common adverse events reported in (postmenopausal) women receiving prometrium 200 mg were: breast tenderness, dizziness, abdominal bloating, vaginal discharge, chest pain, and diarrhea.

And most importantly, they actually warn not to use while pregnant. 

Further research indicated the long-term maternal and neonatal/fetal adverse effects of progestogen administration in early pregnancy also warrant further investigation.

Until then many non-supporters feel it is imperative Progestogen be removed from the treatment list for preventing miscarriage. Increasing awareness among policy-makers, health-care providers and patients about the fact that the practice is not based on evidence is a good start.

Success rate of in vitro fertilization (IVF)

For many women, the “baby quest” can be an emotionally daunting and costly experience, devoting many years and big bucks to the cause. According to the most recent National Summary and Fertility Clinic Report from the U.S. Department of Health and Human Services Centers for Disease Control and Preventionabout 12% of women of childbearing age in the United States have used an infertility service and the percentage of women who give birth using an infertility aid each year is steadily climbing. When natural methods fail, many women between the ages of 28 and 48 are turning to an assisted reproductive technology technique called In Vitro Fertilization (IVF).

Of the 422 fertility clinics in operation and participating in this report during this time, 134,260 ART cycles were performed resulting in 38,910 births for a success rate of 29%. The majority of women using ART techniques ranged between the ages of 30-39 (68%). Women 40+ made up an additional 21%.

The IVF process begins when a woman stimulates her ovaries by taking an oral medication like Clomidor Serophene to produce or develop eggs. She can also be monitored for natural egg production via ultra-sounds or blood work. Once her egg(s) reach maturation and are potentially viable they are removed during an outpatient medical procedure called follicular aspiration which entails sending a thin needle through the vaginal canal and into each ovary (follicle) containing the egg(s). With the needle connected to a suction apparatus, it removes the egg(s) and fluid from each ovary. Mild cramping may occur for a short period of time.

In lab, the egg(s) and sperm are combined to create an embryo or embryos. Under a watchful eye, technicians monitor the development of the embryo(s) and days later, the most viable one(s) are selected and transferred through the vaginal canal, cervix, and then into the uterus during an outpatient procedure at a doctor’s office, fertility clinic or hospital. If the procedure is successful, a woman will know if she is pregnant within two weeks.

The IVF method has been used successfully in the United States since 1981. Studies support a higher percentage of conception success rates with embryo transfers to the uterus occurring on day 3 and day 5 out of the 1 to 6 day window of opportunity for this procedure.

Many factors come into play in the success of IVF such as age, origin of infertility, ovarian reserve, FSH level, semen attributes, the woman’s response to treatment, general over-all health condition, the use of a woman’s own fresh egg(s), frozen egg(s) or donor egg(s), emotional state, health insurance coverage and monetary concerns.

There are a number of other ART techniques to consider in addition to IVF such as GIFT and ZIFT with the latter being a minimally invasive surgical procedure performed laparoscopically (MIS) with a small incision (2-3cm) made through the abdomen. A woman will gain a better understanding of which procedure(s) she is a better candidate for after consulting with her OB/GYN or fertility specialist.

Although multiple embryo transfers may pose more of a health risk concern for both the mother and babies, studies suggest the rate of successful live births does increase with more than one embryo transfer.

As a woman matures, her viable egg(s) begin to diminish, especially after 40. For these women, there is another option. A donor egg. Studies reflect that even women over 40 may have a 52% success rate using a donor egg. Women who have trouble carrying to term but whose egg(s) are viable may want to consider a surrogate or gestational carrier. The same IVF method would apply to the surrogate.

Additionally, women who have previously been pregnant and/or given birth through natural methods or using ART techniques are known to have a higher chance of conceiving and birthing once again using ART methods.

Couples who are experiencing low sperm count may choose to use Intracytoplasmic Sperm Injection (ICSI) where a single sperm is injected directly into a woman’s egg for a better likelihood of fertilization. This process is used in conjunction with IVF.

The Society for Assisted Reproductive Technology (SART), an organization of ART providers affiliated with the American Society for Reproductive Medicine (ASRM), has been collecting data and publishing annual reports of pregnancy success rates for fertility clinics in the United States and Canada since 1989.

General information on clinics in your area and throughout the U.S. who are members of The Society for Assisted Reproductive Technology (SART) can be obtained by calling 205.978.5000, extension 109.

According to the Advanced Fertility Center of Chicago, the average cost of a single IVF cycle is approximately $9500, not including medications.

If you live in and have health insurance coverage in one of the following 13 states, you may receive partial to full coverage for infertility issues, IVF cycles or ART procedures. Check with your insurance provider as states mandate different infertility coverage such as lifetime infertility treatment benefit caps of $15,000, 1 IVF session or no IVF cycle – but include other treatments like fertility medications or artificial insemination.

Currently, the list includes Arkansas, California, Connecticut, Texas, Hawaii, Illinois, Maryland, Massachusetts, Montana, New York, Ohio, Rhode Island and West Virginia while Florida and other states are currently under consideration for state mandates concerning these types of procedures.