Genetic Conditions

Certain genetic conditions may affect fertility or may be treated through a variation
of in vitro fertilization (IVF). In general, these genetic abnormalities fall into two
categories: Single gene defects and chromosomal abnormalities.

Single gene defects involve a mutation or abnormality within the DNA which codes
for a particular gene. Single gene defects can lead to health conditions that can
cause fertility problems. These conditions include cystic fibrosis, Tay Sachs
disease, spinal muscular atrophy, Canavan disease, sickle cell disease,
and Thalassemias.

Chromosomal abnormalities include changes in the number or structure of the

chromosomes which carry the DNA. These changes often affect many genes. The
normal number of chromosomes for humans is 46. Women have 22 pairs of
autosomes and two X chromosomes. Men have 22 pairs of autosomes and one X
and one Y chromosome.

Examples of chromosomal abnormalities include Down syndrome (Trisomy 21—an

extra chromosome 21), Turner syndrome (loss of one X chromosome)
and Klinefelter syndrome (an extra X chromosome in men).

In men, chromosome abnormalities can be associated with low sperm counts. Y-

chromosome gene deletions and cystic fibrosis gene mutations may be associated
with azoospermia or a lack of sperm. Cystic fibrosis gene mutations also may result
in an absence of the ducts that transport sperm. Genetic testing is recommended
for all men with a lack of sperm (azoospermia) or low sperm counts.

In women, chromosomal abnormalities can be associated with pregnancy loss or

even clinical conditions in children such as Down syndrome.

Diagnosis
Some genetic conditions that affect fertility occur more frequently in certain
populations: Tay Sachs disease (Ashkenazi Jews and French Canadians), Canavan
disease (Ashkenazi Jews), sickle cell disease (African Americans, Hispanics
and Mediterraneans), and Thalassemias (Mediterranean, Middle East and East Asians).
CIRS physicians may suggest genetic tests for single gene defects as part of the
initial infertility evaluation, especially if either partner is from one of these ethnic
groups or if a partner has a family history of certain diseases such as cystic fibrosis.

A history of recurrent miscarriages also would require chromosomal testing of both

partners.

Treatment
Should a genetic or chromosomal abnormality be found during your evaluation,
your physician may recommend genetic counseling in which a detailed family
genetic history is obtained and an assessment of risk determined. Preimplantation
genetic diagnosis (PGD) or preimplantation genetic screening may be performed to
screen embryos for genetic conditions before implantation. PGD involves the
removal of one or two cells from an embryo on Day 3 or Day 5, and genetic analysis
of the biopsied cell(s).

Infertility Services
There are many reasons couples have difficulty conceiving. At Brigham and
Women's Hospital Center for Infertility and Reproductive Surgery, you will find that
your caregivers are team-oriented and focused on helping you build a healthy
family. The Center's physicians work closely with our committed and
compassionate staff of registered nurses, counselors, embryologists, geneticists
and support personnel. With our comprehensive and integrated approach to
treatment we have consistently high success rates.

The Center has its own nationally-certified, full-service laboratories, where our
researchers perform an array of sophisticated tests. Lab services include hormone
testing, semen analysis and sperm processing for inseminations and testing for
genetic diseases.

Introduction to Infertility
A woman’s age is the main factor affecting a couple’s chances of achieving a
successful pregnancy. A woman’s fertility peaks between the ages of 20 and 30
years. From 30 to 35 years of age, female fertility starts to slowly decline. Once a
woman turns 35, her fertility begins to drop more rapidly. Over the age of 40,
women have significantly lower chances for conception each month.

Age of Woman Pregnancy Rate*

20-24 86 percent
25-29 78 percent
30-34 63 percent
35-39 52 percent

*Range Pregnancy Rate (within 12 months of trying)

The definition of infertility is based on age:

 Age 34 and younger: regular intercourse for one year without birth control
not resulting in pregnancy;
 Age 35 and older: regular intercourse for six months without birth control
not resulting in pregnancy.

Birth control includes birth control pills, diaphragm, condoms, or the rhythm
method. Infertility is not the same as being sterile. Sterility is when you cannot get
pregnant and the problem cannot be corrected.

Fifteen to 30 percent of otherwise healthy adults have fertility issues. With help,
many fertility issues can be treated.

Deciding When to Go for an Infertility Evaluation

This largely depends on your age. Although infertility is defined as not becoming
pregnant after a year of trying, some couples should be evaluated before one year
of trying has passed. If you are less than 35 years old, it is reasonable to try for one
year before getting a medical evaluation. However, as a woman ages, her chances
of getting pregnant decrease, and an earlier evaluation is recommended. The
standard of care is to evaluate based on the woman’s age:

Age of Woman When to Seek an Evaluation

Less than 35 years old After one year of trying
35-40 years old After six months of trying
Over 40 years old Begin evaluation immediately**

**While trying to become pregnant

Causes of Infertility
There are many different causes of infertility, and often there are several infertility
causes in one couple. These include:

MALE FACTOR INFERTILITY

In about 25-40 percent of couples, a problem with the sperm is the cause of the
infertility. The problem may be the number of sperm, the shape of the sperm, or
their ability to move effectively.

OVULATION

In 25-30 percent of couples, there are problems with the release of the woman's
egg, or ovulation. This may be the result of an abnormality in the woman's ovary
(such as polycystic ovary syndrome), or other hormonal causes. These defects are
treated by giving medications to stimulate ovulation.

TUBAL DEFECT

In 20-30 percent of couples, infertility is caused by an abnormality of the Fallopian

tubes, the tubes that connect the ovaries to the uterus. Tubal defects can be caused
by scarring from previous surgery, infection, or a previous tubal ligation ("tying of
the tubes").

ENDOMETRIOSIS

This is a disorder in which pieces of the lining of the uterus attach to pelvic organs,
including the Fallopian tubes, the ovaries, and sometimes even the intestines. This
can cause pain, scarring, and changes in the ability of the eggs to fertilize and
create a pregnancy. This is the cause of infertility in 5-10 percent of couples.

UNEXPLAINED INFERTILITY

There is no obvious cause of infertility in about 10-20 percent of couples. Fertility

treatments also are successful in these cases, however.

Infertility Evaluation and Diagnosis

The goal of the initial infertility evaluation is to determine the likely cause of
infertility, and to determine the best approach to infertility treatment. Your doctor
will take a careful history and order various tests.

A number of infertility problems are due to health issues in females, however, in

20-25 percent of cases, infertility can be attributed exclusively to male factor
problems and an additional 10 percent of couples have male infertility in addition
to other factors. A complete evaluation and diagnosis should include testing of both
male and female partners.

Most patients are very anxious to get started on their evaluations and treatment.
Ask your primary care physician or general gynecologist to perform as many
preliminary tests as soon as possible before your visit to the infertility specialist and
bring your test results to your first appointment with one of our infertility
specialists.

Male Partner Test

At the beginning of the evaluation, the male partner should have a semen analysis.
He should avoid ejaculation for 48 hours (but no more than six days) before
providing the sample on the day of the test.

Female Partner Tests

There are several baseline tests that are used to evaluate the cause of female
infertility.

 Testing for ovulation

Regular menstrual cycles occurring every 26 to 32 days are likely ovulatory
with ovulation occurring between days 12-18 of the cycle. Over-the-counter
urine ovulation kits also are available and the instructions on the kit should
be followed.
 Day Three Follicle Stimulating Hormone (FSH) level, Estradiol (E2), Anti-
Mullerian Hormone (AMH)
This is done by testing the blood for FSH, E2, and AMH on day three of the
menstrual cycle.
  Progesterone level
Serum progesterone level can be measured in the second half of the cycle
(day 20-22 in a 28-day cycle).

Clomiphene Citrate Challenge Test (CCCT)

An oral medication, clomiphene citrate (Clomid®), is taken on days five to nine of the
menstrual cycle. A blood test is performed on day three and day 10 to measure FSH
and E2 levels.

OTHER TESTS

Additional testing that may be ordered by a gynecologist or a fertility specialist:

 Hysterosalpingogram (HSG, or tubogram)

This is a test to assess if the Fallopian tubes (the tubes connecting the ovaries
to the uterus) are open. The test is performed under x-ray and involves
injecting dye into the cervix to see if the tubes are open and whether the dye
can flow freely through them. The size and the shape of the uterine cavity are
also examined in this test.
 Laparoscopy
This is an outpatient surgery in which a magnifying scope is used to look
inside the abdominal and pelvic cavity. This test is performed
if& endometriosis or adhesions are suspected
 Hysteroscopy
In this procedure, a small scope is inserted into the uterus through the
vagina and cervix to look at the inside of the uterus. This test is done if
uterine abnormalities are seen during the HSG (tubogram) or if scar tissue or
polyps are suspected.
 Pelvic ultrasound
An ultrasound may be ordered if enlarged uterine size or ovarian masses are
noted on an exam.

In Vitro Fertilization (IVF)

In vitro fertilization (IVF) is a treatment option for women diagnosed with infertility,
whether due to blocked or damaged Fallopian tubes, endometriosis,
immunological infertility, cervical factor infertility, male factor infertility, or an
unexplained cause. In vitro fertilization involves mixing egg cells with sperm cells in
vitro - that is, in a laboratory rather than in the body. Once fertilization occurs, the
embryos are transferred into the mother's uterus, creating a pregnancy that will be
carried to term and delivered normally.

For a woman undergoing in vitro fertilization, each step of this process has been
fine-tuned to increase her chance of pregnancy. The in vitro fertilization process
involves four steps:

 Encouraging production of multiple eggs from the ovaries using several

different medications
 Collection of the eggs from the ovaries using vaginal ultrasound with the
patient under light anesthesia
 Mixing of sperm and egg to facilitate fertilization while in culture
 Placement of the embryos into the uterus using a small thin catheter.

During in vitro fertilization, oocytes are retrieved from the patient and inseminated
four to six hours later with sperm. After 16-20 hours, the oocytes are examined to
see if fertilization has occurred. If it has, the embryo is cultured for an additional 48
to 96 hours and selected embryos are transferred to the patient's uterus during an
embryo transfer procedure either on Day Three or Day Five after egg retrieval.
During the transfer procedure, a small-bore catheter is passed through the cervical
canal into the patient's uterus.

In Vitro Fertilization (IVF) Video

Mark D. Hornstein, MD, Director of the Center for Infertility and Reproductive Surgery at
Brigham and Women’s Hospital, describes the indications for in vitro fertilization and
how IVF is performed. Read the What You Need to Know about In Vitro Fertilization
video transcript

The Most Common Infertility Treatments

Watch the In Vitro Fertilization Class video on what you need to know about IVF
and other fertility treatments, including length of treatment, medications,
laboratory tests, and procedures.
In vitro fertilization is the most effective therapy for patients who have been
diagnosed with infertility. The treatment was originally designed for women with
Fallopian tubes that are either blocked, severely damaged, or absent. In vitro
fertilization is now also a therapy for patients with endometriosis, uterine factor
infertility, anovulatory factor infertility and unexplained infertility.

In addition, IVF is an excellent choice for couples with mild to moderate male factor
infertility. One of the advantages to selecting IVF is that fertilization of the egg can
be identified, and embryo quality can be assessed in the IVF laboratory. Such
assessment may provide insight regarding possible causes of infertility and the
direction of any future treatment.

In Vitro Fertilization Success Rates

Many factors may influence a couple's chance for success, including the age of the
woman, the couple's diagnosis, the quality of the sperm and the response of the
woman's ovaries to medication. In addition, each phase of the in vitro fertilization
cycle may or may not be successful. For example, if the ovaries have a poor
response to medication, few or no eggs may develop resulting in cancellation of the
cycle. There is also a small chance that fertilization may not occur due to either
sperm and/or egg defects. Furthermore, eggs may be retrieved and embryos
obtained, but the embryos may be of poor quality and lack the ability to develop.
Finally, embryo transfer may be technically difficult or impossible (extremely rare).
The most common reason for failure in an in vitro fertilization cycle is failure of the
embryo(s) to implant within the uterus, usually associated with embryo quality
issues.

Most patients want to know the chance of taking home a baby after their in vitro
fertilization treatment. While this is an important statistic, it is also relevant to look
at the number of pregnancies that involve triplets or more (high order multiple
birth rate). Since these pregnancies involve risks to both the mother and the
fetuses, IVF clinics strive to maximize pregnancy rates while minimizing the number
of high order multiple pregnancies established. Therefore, when reviewing program
statistics, the most important figures to assess are the percent of live-births per
treatment cycle and the percentage of pregnancies with triplets or more.

We are a member of the Society for Assisted Reproductive Technology (SART and
report our success rates to the Centers for Disease Control and Prevention (CDC)
on an annual basis. View our SART statistics.
In Vitro Fertilization and Micromanipulation
Technologies:
For couples with severe male factor infertility, in vitro fertilization
with intracytoplasmic sperm injection (ICSI) provides the best chances for a
successful outcome.

INTRACYTOPLASMIC SPERM INJECTION (ICSI)

ICSI is performed in cases where the number of sperm available is extremely low or
there is a past history of failed or poor fertilization. In this procedure, a single
sperm is injected directly into the egg, thus helping to fertilize the egg.

ASSISTED HATCHING (AH)

Assisted hatching (AH) improves success rates for special populations. AH

involves creating a hole in the covering around the embryo, known as the zona
pellucida. This procedure is offered to older patients, those with repeat failed
implantations, and/or those whose zonae appear thicker than normal. It is thought
that by creating a hole in the zona, escapement from the covering is enhanced, and
the normal implantation/attachment process is facilitated.

PREIMPLANTATION GENETIC DIAGNOSIS (PGD)

Special Treatment for Genetic and Inherited Disorders

PGT involves the removal of a few cells from an embryo on Day 5 or Day 6 and
genetic analysis of the biopsied cell(s). The PGT procedure is offered to those
couples at risk for having eggs with an abnormal number of chromosomes, or who
have documented chromosome or single gene defects. Currently, PGT is offered for
a multitude of genetic defects. Our patients meet with genetic counselors to discuss
their own genetic issues and testing options.

Catherine Racowsky, PhD, HCLD, director of the IVF Laboratory at Brigham and
Women’s Hospital, discusses the expertise of the IVF Laboratory team and the
importance of high quality standards and a collaborative approach with physicians
to help patients achieve their goal of a healthy pregnancy and baby.
Gestational Carrier
In some instances, women have barriers to carrying a pregnancy and in vitro
fertilization using a gestational carrier is an appropriate treatment.

Some of these barriers include, uterine issues associated with surgery or cancer,
medical problems that pose danger to either the mother or baby during pregnancy,
or a biologic inability to carry a pregnancy such as a male couple.

What is a Gestational Carrier?

The gestational carrier, or surrogate, is a healthy woman who has volunteered to
carry a pregnancy for the intended parents. This type of treatment involves a cycle
of in vitro fertilization where sperm and eggs are obtained from the intended
parents and embryos are created in the laboratory. These embryos are then
implanted into the gestational carrier to establish a pregnancy. The gestational
carrier does not have any biologic connection to the fetus she is carrying.

Choosing a Gestational Carrier

The gestational carrier undergoes a rigorous screening process to make certain she
is medically and emotionally healthy enough for this process. These women are
often paid professional gestational carriers and are represented by local agencies,
but can also be family members or friends who volunteer. Attorneys establish
contracts on behalf of both the intended parents and the gestational carrier that
formalizes the relationship. A “pre-birth” order is also filed with the court to legally
establish the parentage of the fetus. Your infertility physician will help you
determine if you are a candidate for gestational carrier IVF and help you navigate
the process.

Ovulation Induction
In the ovulation induction process, medications are taken (oral or injectable) to
stimulate the ovaries to make eggs. Medications for ovulation induction help
regulate the timing of ovulation and stimulate the development and release of
mature eggs. They can also help correct hormonal problems that can affect the
lining of the uterus as it prepares to receive a fertilized egg.
Ovulation induction is recommended for women with ovulation problems caused
by:

 Polycystic ovary syndrome (PCOS)

 Absence of periods due to abnormal secretions of prolactin, by the
reproductive portion of the brain (hypothalamus)
 Diminished ovarian reserve
 Unexplained infertility

Ovulation medications can stimulate more than one egg to be released which
increases the possibility of having twins or multiple births. At the Center for
Infertility and Reproductive Surgery we strive to maximize pregnancy rates while
minimizing the number of high order pregnancies established, since these
pregnancies involve risks to both the mother and the fetuses.

When ovulation induction is successful, pregnancy rates per cycle are close to those
of normally ovulating women in a comparable age group. Learn more about
our success rates.

Intrauterine Insemination (IUI) Overview

Artificial insemination involves the placing relatively large numbers of healthy
sperm directly into a woman’s uterus, bypassing the cervix. This process is known
as intrauterine insemination (IUI).

Intrauterine Insemination
With IUI, the male partner's specially washed and prepared sperm is injected into
the female partner’s uterus through a small catheter usually during
ovulation. Ovulation induction is often combined with IUI to maximize pregnancy
success rates. IUI is most appropriate for couples with:

 mild male factor infertility

 minimal endometriosis infertility associated with diminished functioning of
the ovaries
 infertility due to unknown causes
Sperm Donation
For IUI sperm may obtained from the male partner or obtained from an
anonymous donor (therapeutic donor insemination). Commercial sperm banks are
the source of donor sperm in the majority of TDI cases. Sperm banks provide
information about the physical characteristics, medical history, education, and
ethnic or racial background of the donors.

The use of frozen semen (from a licensed sperm bank) is recommended by the
Food and Drug Administration and the Center for Disease Control to prevent
sexually transmitted disease. At sperm banks, donors are tested for sexually
transmitted diseases, including HIV, chlamydia, gonorrhea, syphilis, hepatitis, and
others.

TDI is recommended in the following situations:

 couples in whom the male partner does not have sperm that can be used in
treatments
 women without partners
 lesbian couples
 couples where the male carries a genetic disorder and the decision is to use
a donor who does not carry this disorder.

Egg Donation
The availability of donated egg cells (ovum or oocyte) now provides many couples a
chance at pregnancy. Designated (from someone you know) and anonymous egg
donation is available. Egg donors will undergo a standard in vitro fertilization (IVF)
procedure including ovulation stimulation and egg retrieval. Donated eggs are
mixed with the male partner's sperm to allow fertilization. Embryos are transferred
into the mother's uterus following standard IVF practice.

While the most common condition motivating couples to request ovum donation is
premature ovarian failure, it also can be used to treat infertility as the result of:

 congenitally or surgically absent ovaries

 ovaries which have stopped functioning due to chemotherapy, X-ray therapy,
aging, or for unknown reasons
  failure of other fertility treatments

Additionally, women who carry genetic abnormalities in their own eggs may also be
able to become pregnant with eggs donated by women without genetic
abnormalities.

If egg donation is an option for you, your infertility physician can help to navigate
the process.

Recurrent Pregnancy Loss

Recurrent pregnancy loss refers to the loss or miscarriage of two or more
consecutive pregnancies. This can occur at any stage in the first 20 weeks of
pregnancy but most miscarriages happen before the end of the first trimester (first
12 weeks). Miscarriages are not uncommon. It is estimated that every woman has a
15 to 30 percent chance of having a pregnancy end in miscarriage.

For women who have had one or two miscarriages, their chances of carrying their
next pregnancy to full term remain about the same as if they had never had one.
The chance of miscarrying again after three miscarriages increases with each loss.
The risk for recurrent miscarriage also increases with age. Women 40 years or older
with previous recurring miscarriages have a much higher risk compared to younger
women.

What causes a miscarriage?

Causes of miscarriage can include:

 Genetic factors - problems with the genes or chromosomes of the fetus are
the most common causes of miscarriage. These are usually not problems
inherited from parents, but occur spontaneously, by chance, in the embryo.
Less common, one or both parents can carry a genetic mutation that causes
miscarriage.
 Hormonal imbalances
 Abnormalities of the uterus - associated with both first and second trimester
pregnancy losses.
  Congenital abnormalities - include double uterus and uterine septum.
Other abnormalities include uterine polyps, fibroids and scar tissue inside
the uterine cavity.
 Cervical incompetence - complicates about one percent of pregnancies.
Women with an incompetent cervix often have rapid miscarriages between
16 and 18 weeks. This condition can be successfully treated with a stitch to
help hold the cervix closed.
 Immunologic problems - antiphospholipid syndrome is the cause for
recurrent miscarriage in 3 to 15 percent of women. It is recommended that
women with recurrent miscarriage be tested for lupus anticoagulant and
anticardiolipin antibodies to determine if they have this problem.
 Excessive blood clotting in the placenta

What are treatments for recurrent pregnancy loss?

Treatment of recurrent pregnancy loss can include:

 Correction of hormonal problems

 Surgical treatment of uterine abnormalities or fibroids
 Preimplantation genetic diagnosis (PGD)
 Immunologic treatments
 Blood thinning medications

Recurrent Pregnancy Loss Program

The Center for Infertility and Reproductive Surgery Recurrent Pregnancy Loss
Program is a comprehensive evaluation and management program that covers all
aspects of treatment, including medical, surgical and psychological care.
Recognized around the world, the program has helped thousands of women, who
have repeatedly lost pregnancies, build healthy families.

Tubal Ligation Reversal

Tubal ligation is a surgery to close a woman's fallopian tubes so eggs released from
the ovaries cannot enter the uterus and sperm cannot reach the egg. Tubal ligation,
or having “tubes tied,” is performed to prevent pregnancy and is a common form of
contraception.

What is tubal ligation reversal (TLR)?

Women who have had their "tubes tied" can have the procedure surgically
reversed. The tubes are reanastamosed (untied) through a surgical procedure that
is often a minimally invasive, same-day surgery. The surgery can be performed
using minimally invasive or robotic techniques. The success of TLR will depend
upon the woman's age, type of tubal ligation originally performed and the length of
her remaining healthy tubes. Roughly 50-80 percent of women who have TLR go on
to have a successful pregnancy.

The Center for Infertility and Reproductive Surgery at the Brigham and Women's
Hospital has access to some of the world's top gynecological surgery teams,
assuring you of comprehensive care and the best possible chance for a successful
outcome.

Elective Egg Freezing and Fertility

Preservation
Not every woman is ready to start a family in their peak fertility years. Some may
choose to delay childbearing for personal or professional reasons. Most women
know that fertility declines with age, but many are not aware of how soon the
decline begins. Egg quality begins to decrease in the early 30's, with a significant
decrease in the quality and number of eggs around age 35.

The Center for Infertility and Reproductive Surgery (CIRS) at Brigham and Women's
Hospital has a well-established elective egg freezing program for women who want
to expand their reproductive options and postpone childbearing. According to the
most up-to-date research, pregnancy success rates are comparable when
comparing frozen, thawed eggs to frozen embryos.

Reproductive Disorders
Conditions such as endometriosis, congenital anomalies, ovarian cysts and uterine
fibroids, can interfere with a woman’s current or future fertility. In some cases,
successful treatment of reproductive disorders allows couples to conceive without
further treatment.

The physicians at the Center for Infertility and Reproductive Surgery at Brigham and
Women’s Hospital provide treatment for reproductive disorders in addition to
fertility treatments.

Ovarian Cysts and Uterine Fibroids -

Symptoms and Treatment
Aside from endometriosis and congenital anomalies, ovarian cysts and fibroids
are two more common conditions that can impact fertility and a woman’s ability to
conceive.

Ovarian Cysts
Ovarian cysts are fluid-filled cavities within the ovary that may develop as part of
the follicle which forms monthly with the developing egg. After ovulation the follicle
becomes a corpus luteum which makes progesterone. Either a follicle or a corpus
luteum can form a cyst (follicular or corpus luteum cysts). There also are benign
(non-cancerous) and rarely (cancerous) cysts which can form in the ovary. If
gynecological surgery intervention is needed, the cyst can be removed
laparoscopically, a procedure where a surgeon uses small incisions (5-10mm) to
insert tiny instruments into a patient’s abdomen and perform the operation.

Ovarian cyst symptoms are often asymptomatic but can include:

 pelvic pain
 pelvic pressure
 abdominal enlargement
 bowel or bladder symptoms

Ovarian cyst treatment:

 Watch and wait; the cyst may go away without treatment

  If gynecological surgery is needed, the cyst can be removed laparoscopically
in a procedure called cystectomy or the ovary can be surgically removed
(oophorectomy).

Learn more about reproductive gynecological surgery.

Uterine Fibroids
Fibroids, also known as uterine leiomyomas, are non-cancerous tumors arising
from the myometrium (smooth muscle layer) of the uterus. Other names for these
tumors include fibromyomas, fibromas, myofibromas, and myomas.

Fibroids are the most common solid pelvic tumors in women. They can be found in
up to 70 percent of women, but only cause symptoms in approximately 25 percent
of reproductive age women. They are usually found in women during their 30’s and
40’s, and typically shrink in size after menopause. Fibroids are two to five times
more common in black women than white women. The average affected uterus has
six to seven fibroids.

Fibroids are classified by their location in the uterus. Subserosal fibroids are located
just under the outer layer of the uterus. Intramural fibroids are found within the
uterine wall; they can distort the uterine cavity or the outer shape of the uterus.
Submucous fibroids are located in the uterine cavity. Ninety-five percent of fibroids
are subserosal and intramural, while the remaining five percent are submucosal.

Benign fibroids (uterine leiomyomas) rarely become malignant (leiomyosarcomas).

Many researchers and physicians believe this transformation never occurs. Uterine
leiomyosarcomas are found in approximately 0.1 percent of women with fibroids
and are often associated with large or rapidly growing fibroids. Diagnosis of
malignant fibroids can only be made after examining tissue of the uterus.

Learn more about symptoms, diagnosis and fibroid treatments:

 Fibroid Symptoms and Diagnosis

 Gynecological Surgery for Fibroid Treatment
 Non-surgical Fibroid Treatment
 Fibroid-like Conditions: Adenomyosis and Endometrial Polyps

Reproductive Gynecological Surgery

Gynecological surgery specifically aimed at restoring or maintaining reproductive
function is called reproductive surgery. Among gynecologic surgeons, those who
specialize in reproductive endocrinology and infertility are specifically trained to be
attentive to a woman’s future reproductive needs. The goal is to minimize the
negative impact of surgery on the reproductive organs. Many minimally invasive
procedures can be done in a day-surgery setting. Reproductive surgeons are
specifically skilled at minimally invasive gynecological surgery techniques such as
laparoscopy, hysteroscopy or robotic surgery. Gynecological surgery may be
performed for a number of conditions including myomectomy (fibroid treatment),
endometriosis treatment and tubal ligation reversal.

The Center for Infertility and Reproductive

Surgery – Success Rates
In 1992 the U.S. government passed legislation requiring infertility treatment
centers to report results to the Centers for Disease Control and
Prevention (CDC). You can view the latest reported statistics for Brigham and
Women’s Center for Infertility and Reproductive Surgery at the Society for
Reproductive Technology (SART).

These statistics can seem overwhelming or confusing and, cannot tell the whole
story. Many prospective patients will focus on the percentage of cycles resulting in
pregnancy and cycles resulting in live births. Please be cautioned that outcomes
can vary greatly depending upon a number of factors such as your particular
fertility problem, age and overall general health. At all times our team is committed
to giving you realistic expectations based upon your particular situation and specific
treatment plan.

While the number of live births is an important statistic it is also important to

consider the number of pregnancies that result in triplets or more. These
pregnancies can present significant risk to the mother and the developing babies.
At the Center for Infertility and Reproductive Surgery we strive to maximize
pregnancy rates while minimizing the incidence of high order (multiple)
pregnancies.

Infertility Services Patient Stories

After 6 months of trying to get pregnant, Alex and Tim Lieto decided to consult a
local fertility clinic. Alex and Tim were told that male-factor infertility was at play.
The program’s health care providers were pessimistic about the possibility of
success, so the Lietos sought a second opinion at the Center for Infertility and
Reproductive Surgery at Brigham and Women’s Hospital. Read their story.

Reproductive surgeons at the Center for Infertility and Reproductive Surgery

performed robotic surgery to successfully remove a large uterine fibroid which was
preventing Sophia Watson and her husband David from starting a family.

Twenty-two year old cancer patient Arieana Carcieri worked with fertility
specialists at Brigham and Women’s Hospital to freeze her eggs before undergoing
treatment of non-Hodgkin's lymphoma.

For Patients and Families at the Center for

Infertility and Reproductive Surgery
The Center for Infertility and Reproductive Surgery at Brigham and Women’s
Hospital (BWH) offers expert and compassionate care delivered with a patient-
centered focus. We are dedicated to meeting the many needs of our patients and
families – medical, emotional, financial and spiritual – while educating them about
disease and the latest treatment options.

Our Center for Infertility and Reproductive Surgery is supported by a clinical and
administrative staff working as one cohesive group to provide the best possible
care for each patient. In addition, patients have full access to our world-renowned
academic medical center in Boston with its diverse multidisciplinary specialists and
state-of-the-art facilities.

More information for patients, families and caregivers:

What is infertility?

Infertility means that you have had regular intercourse, for one year if you’re
younger than 35 years old or six months if you’re older than 35 years,
without birth control and have not become pregnant. Birth control includes
birth control pills, diaphragm, condoms, or rhythm. Infertility is not the same
as being sterile. Sterility is when you cannot get pregnant and the problem
 cannot be corrected. Fifteen to 20 percent of healthy adults have fertility
problems. With help, many fertility problems can be treated.

When is time for evauation?

This largely depends on your age. If you are less than 35 years old, it is reasonable
to try for one year before getting a medical evaluation. However, as a woman ages,
her chances of getting pregnant decrease, and an earlier evaluation is
recommended.

 Age of woman - Less than 35 years old When to seek evaluation by an

infertility specialist - After one year of trying
 Age of Woman - 35-40 years old When to seek evaluation by an infertility
specialist - After six months of trying
 Age of Woman - Over 40 years old When to seek evaluation by
an infertility specialist - Begin evaluation immediately

Other indications of infertility:

 Men and women who have concerns about their reproductive health
 Women who have had two or more miscarriages
 Women with irregular or painful menstrual cycles
 Women with endometriosis, uterine fibroids, or problems related to
menstrual disorders

What ARE THE CAUSES OF INFERTILITY?

There are many causes of infertility. Often there are several infertility causes in one
couple. These include:

 Male factor infertility

In about 25-40 percent of couples, a problem with the sperm is the cause of
the infertility. The problem may be the number of sperm, the shape of the
sperm, or their ability to move effectively.
 Ovulation
In 25-30 percent of couples, there are problems with the production of the
woman's egg, or ovulation. This may be the result of an abnormality in the
 woman's ovary (such as polycystic ovary syndrome), or other hormonal
causes.
 Tubal defect
Infertility is caused by an abnormality of the Fallopian tubes, the tubes that
connect the ovaries to the uterus, in 20-30 percent of couples. Tubal defects
can be caused by scarring from previous surgery, infection, or a previous
tubal ligation ("tying of the tubes").
 Unexplained infertility
There is no obvious cause of infertility in about 10-20 percent of couples.
 Endometriosis
This is a disorder in which pieces of the lining of the uterus implant
themselves onto pelvic organs, including the Fallopian tubes, the ovaries, and
sometimes even the intestines. This is the cause of infertility in 5-10 percent
of couples.

WHAT IS IVF?

Under normal circumstances, each month a woman develops a single egg that
ovulates (i.e. is released by the ovary) and is captured by one of her Fallopian tubes.
In the tube, the egg may be fertilized by a sperm. The newly formed embryo moves
down the tube into the uterus where it may implant to establish pregnancy.

For a woman undergoing In Vitro Fertilization (IVF), each step of this process has
been fine-tuned to augment her chance of pregnancy. The IVF process can be
considered to involve 4 steps:

 Recruitment of multiple eggs from the ovaries using several different

medications
 Collection of the eggs from the ovaries using vaginal ultrasound with the
patient under light anesthesia
 The mixing of sperm and egg to facilitate fertilization while in culture
 The placement of the embryos into the uterus using a fine catheter (tube)

Watch the In Vitro Fertilization Class video on what you need to know about IVF
and other fertility treatments, including length of treatment, medications,
laboratory tests, and procedures.
 WHEN IS INVITRO FERTILIZATION NEEDED?

IVF is the most commonly recommended therapy for patients who have been
diagnosed with infertility. The treatment was originally designed for women
with Fallopian tubes that are either blocked, severely damaged, or absent. In
Vitro Fertilization is now also a therapy for patients with endometriosis,
immunological infertility, cervical factor infertility and unexplained infertility.
In addition, IVF is an excellent choice for couples with mild to moderate male
factor infertility. One of the advantages to selecting IVF is that fertilization of
the egg can be identified, and embryo quality can be assessed in the IVF
laboratory. Such assessment may provide insight regarding possible causes
of infertility and the direction of any future treatment.

ARE injections painful?

Although you will be having daily injections, the majority of these injections will be
subcutaneous. This means that the needle is very thin and short and causes
minimal discomfort. Technique is a very important part of the injection. Discomfort
is greatly reduced with proper technique.

We are committed to helping you develop proper technique. A nurse is available to

meet with you and your partner to provide private injection teaching. You will be
performing a return demonstration injection. The nurse will observe your
technique and provide support and reassurance. When you leave the office, you
will have the necessary skills and confidence to perform injections properly.

Is the ivf procedure painful?

The IVF procedure (egg retrieval) is not painful, anesthesia is provided during the
procedure and you will be monitored very closely to assure that you are
comfortable. As with any surgical procedure, some postoperative discomfort is
expected. However, most patients have minimal discomfort following the
procedure. The most common complaint is cramping. An anesthesiologist and
nurse are present to assess your comfort and provide you with any pain relief you
may require.

Egg freezing is a fertility preservation option for women who may need to put
parenthood on hold while they undergo cancer treatment or if they face other
conditions that may harm their fertility. The first step involves taking injections of
fertility medications for about two weeks to stimulate egg production (ovarian
stimulation). Once tests indicate that eggs have developed in the ovaries, the eggs
are removed by a fertility specialist using a small ultrasound guided needle.

Pregnancy and live birth rates using frozen eggs are excellent. As a result, in 2012
the American Society of Reproductive Medicine removed the experimental label for
egg freezing. A woman’s eggs can also be fertilized with sperm from the male
partner or sperm donor, using IVF, and frozen for future use, a process known as
embryo cryopreservation.