Parental Concerns:

Many women who have had their fallopian tubes ligated are choosing to undergo tubal reversal procedures in order to have one or more children again.  Tubal reversal is a surgical operation that restores a woman’s ligated tubes back to normal and allows pregnancy to occur.  There are some concerns, however, that a woman above the age of 40 who had a tubal reversal has an increased risk of conceiving a child with trisomy 21 or Down syndrome.

Definition of Trisomy 21:

Every cell in the human body contains 23 pairs of chromosomes.  In trisomy 21 individuals an extra chromosome 21 is present. Most cases are due to random mutations occurring during egg or sperm cell formation.   Children with trisomy 21 have common physical features.  They usually have weak muscles, small and flat heads, wide nasal bridges, and a single crease on their palms.  They also have delayed mental growth.  Some affected children have heart defects and gastrointestinal problems as well.

Genetic Epidemiology In the General Population:

Trisomy 21 occurs in one newborn out of every 800 live births.  According to a study from the Center for Disease Control and Prevention, in the US

approximately 95% of all chromosomal abnormalities are due to trisomy 21.  Downs syndrome appears in all ethnic groups and in all economic classes of human race.

Maternal age influence:

Maternal age is an important contributing factor in conceiving a baby with Down syndrome.  At the ages between 20 and 24, the probability of having an affected child is one out of 1,562 live births.  Between the ages of 35 and 39, it is one in 214 live births.  Above the age of 45, this risk increases to 1 in every 19 live births.   Recent studies have also found that paternal age above 42 years could be another risk factor for the development of Downs syndrome.

Severity of Downs syndrome:

Manifestations of Downs syndrome range from mild to moderate to severe forms.  Most affected children present with moderate mental retardations as well as delayed physical and social developments.  Although there is no known therapy to cure the condition, children with Downs syndrome usually live well into their adulthood.

Tubal Reversal and Down Syndrome:

Women who choose to undergo tubal ligation reversal at an older age (40 and above) must explore their options before making a decision. Advanced age increases the risk of conceiving a child with chromosomal abnormalities such as Downs syndrome. Pregnancy at an advanced age, whether by tubal ligation reversal surgery or not, always puts on at increased risk of having a child with a chromosomal abnormality.

Trisomy 13, also known as Patau’s syndrome, and Trisomy 18, also known as Edwards’ syndrome, are conditions where the presence of chromosomal abnormalities generally result in severe mental retardation and physical disfigurement.  Children born with either condition usually

die within the first year of life.  Parents of these children often

undergo a tubal ligation surgery for fear that their next child would be

affected with the same disorder.

Some of these parents, after much consideration and consultation with

experts, recognize that this condition may not occur in future

pregnancies.  A tubal reversal is an option that will help these couples

bear children again.  Woman who are interested in a tubal reversal should be very aware of all the possible problems which may arise, especially if they are over the age of 40 . Although a tubal reversal may be the best option, these women should also explore other alternatives such as adoption. While the main concern will be the related risk of a trisomy 13 or trisomy 18, the fact is that the risk is the same for patients who undergo a tubal reversal as for those in the general population.

What is the possibility that parents with a child with trisomy 13 or trisomy 18 will have another baby with the same problem?

There is very little possibility that the parents of a child with trisomy 13 or trisomy 18 will have another baby with the same problem.  The likelihood of this occurrence is only 1% or less, as the majority of these cases are not inherited.  Trisomy 13 and trisomy 18 mostly occur secondary to random events occurring during sperm and egg cell formation.  The risk is different, however, in cases of translocation and mosaic trisomies of chromosomes 13 and 18. The chromosomal abnormalities present in these conditions have varied genetic implantation risks.

The risk of having children affected with these conditions is higher among mothers of advanced age. The average age of a mother who has a baby with trisomy 13 is 32 years old. For trisomy 18 the average age is 31.  The risk increases with each added year.

The physician will perform a karyotype to analyze the chromosomes of an infant suspected of having trisomy 13 or 18. A Karyotype is performed by extracting blood fromthe newborn.  Results give significant information to parents about their risk in future pregnancies.  The physician may also refer parents for genetic testing to determine if the condition was a translocation or a mosaic type. This determination will help predict the risk of recurrence in future pregnancies.

Is there a therapy which can cure or prevent trisomy 13 or trisomy 18?

Gene therapy has done immensely well over the past few decades in many fields, but there are still no specific therapies available to avert the

erratic chromosomal events that cause trisomy 13 or trisomy 18.

If I have a child with trisomy 13 or 18, will IVF be a better choice for me than a Tubal Reversal?

The major advantage of IVF over Tubal Reversal is the ability for Pre-implantation Genetic Determination. With IVF, the embyo can be Karyotyped prior to implantation to ensure that the child will not have trisomy 13 or 18. A patient who has a Tubal Reversal will not have this same luxury as the embryo produced from a Tubal Reversal pregnancy will not be selected out for either of these abnormalities.

A polycystic ovary is a condition in which the follicles never erupt from the ovaries.  This may be associated with a pathological condition known as polycystic ovarian syndrome (PCOS). This is a very common disorder and occurs in nearly 1 out of 5 women.

Under normal circumstances, follicles grow, mature, and rise to the surface of the ovary, where they burst and release an egg to the fallopian tube. Pituitary hormones control this process. The remnants of the follicle then start to produce progesterone, which supports the lining of the uterus (endometrium) in case a fertilized egg finds it’s way into the uterine cavity. An increase in progesterone production will signal to the pituitary gland to stop stimulating the ovary for the development of eggs.

In polycystic ovaries, the follicles rise to just under the outer lining of the ovary, and are formed over and over because the pituitary has not been signaled to stop.  The ovaries become filled with these tiny cysts and can become enlarged.

These polycystic-appearing ovaries may be diagnosed based on their enlarged size.  Ovaries may get twice the normal size with small cysts present around the boundary and outside wall of the ovary.  These can be found in women who feel completely normal and have no symptoms, and also in women symptoms and significant endocrine disorders. Having polycystic-appearing ovaries do not necessarily mean that you have PCOS. PCOS requires that other criteria are met and includes other symptoms besides the presence of ovarian cysts.

PCOS increases your risk for metabolic and cardiovascular disease linked to insulin resistance, and endometrial cancer related to the prolonged exposure to persistant levels of Estrogen without Progesterone.

Risks of PCOS include:

• Increased glucose intolerance
• Type 2 diabetes
• Infertility; Polycystic ovarian syndrome is associated with anovulatory infertility
• High blood pressure
• An increased risk for endometrial cancer
• Abnormal periods and vaginal bleeding
• Increased risk of infertility
• Pregnancy-related complications

Although ultrasound is used to view the ovary as a diagnostic step in diagnosing the condition of polycystic ovaries, additional tests are required to diagnose PCOS. Since this condition is so common, many patients who undergo tubal ligation reversal will be affected by PCOS. A thorough evaluation by your primary gynecologist should rule out PCOS before you consider tubal reversal. Tubal reversal will not affect your PCOS condition, but in order to have success after a tubal ligation reversal, your risk of infertility from PCOS must be minimized.

To evaluate the risk of infertility from other causes beyond tubal disease, gynecologists will consider many additional tests. Having your tubal reversal performed by a skilled tubal reversal surgeon significantly improves your chance of getting pregnant. With an ideal tubal ligation reversal, your chance of achieving a pregnancy will be mostly affected by these other factors such as PCOS. Several medicines may be used after tubal reversal to cause increased ovarian stimulation for better follicle production to treat the underlying infertility caused by PCOS.

When to Have an HSG after a Tubal Reversal?

HSG is the best method to determine the tubal patency (if the tubes are open).  It is not recommended to have a HSG too soon after a tubal reversal surgery.  Most will recommended at least 4 to 6 months after a tubal ligation reversal because an HSG relies on increased pressure in the tube, and it the tube is still weak where the tubal ligation reversal occurred, the tube could be damaged. Also, the risk of infection is present whenever a HSG is performed.  It is recommended that patients try for a pregnancy first before going straight to an HSG.  A good number of patients conceive within this early period and will then not need or desire to have a HSG performed.

Get ready for an HSG:

• An HSG is optimally performed after menstruation and before ovulation.  If a HSG is performed after the time of ovulation it may interfere with a pregnancy.
• To diminish the risk of infection, antibiotics and sterile technique are used.
• Gynecologists will mostly recommend a prophylactic pain prescription of 800 mg of ibuprofen one hour before the HSG to minimize discomfort.

What happens in an HSG?

You will be positioned just as if you were having a pap smear performed. The speculum will be placed, and the cervix will be grasped and retracted.  A thin tube will be inserted into the uterus and this may cause some cramping. Dye is then injected through this tube and into the uterus. At the start the dye will fill up the uterine cavity.  It is necessary that the dye in fact enters the fallopian tubes up to the end where the anastomosis was done.  Once past the tubal ligation reversal point, the dye should continue to the end of the tube and be discharged from the end of the tube into the pelvic cavity. Flow through the entire tube may not occur due to a spasm of the muscle at the base of the tubes or a spasm in the tubal segments. As such, some patients who have had a tubal reversal may in fact have a HSG that looks like the tubes are not open. This is very rare.

If the dye passes through the portion of tube that was put back together during the tubal reversal, the fallopian tubes are considered repaired. If the dye spills into the abdominal cavity, the diagnosis of tubal patency is decisive.

Note: Care is taken to note that if in the x-rays show that the dye has passed through the tubal ligation reversal site, but has not yet spilled into the abdominal cavity, this may be due to an inadequate quantity of dye being injected.  The radiologist may incorrectly consider that the tube is blocked when it is in fact open. This also is very rare as the gynecologist performing the HSG should be careful to inject a proper amount of dye.

In the past, ultrasound for infertility was done by placing a transducer on the abdomen.  This required a full bladder for greater accuracy so that the sound waves could be transmitted into the abdomen and pelvis.  However, the standard ultrasound technique used for infertility is now the vaginal, or endovaginal, ultrasound.  The procedure is much more advanced. A long, thin probe is inserted into the vagina. This probe is used for imaging the pelvic organs.  The pictures generated from a vaginal ultrasound are sharper and clearer because having the probe inside of the vagina allows the probe to get much closer to the pelvic structures.

What can be viewed on ultrasound for infertility treatments?

Ovulation scans are important in evaluating follicle size. These ultrasounds allow the gynecologist to more precisely determine when the egg matures and when ovulation occurs.  This is often the fundamental procedure for determining infertility treatments around the time of ovulation.  Daily scans are needed to visualize the emergent follicle, which looks like a black bubble on the ultrasound screen.  Useful information detected and established by these scans is the thickness of the endometrium (the uterine lining).  The ripening follicle produces estrogen, which causes the endometrium to thicken.  The gynecologist can get an excellent approximation of how much estrogen is being produced in the body based on the thickness and clarity of the endometrium on the ultrasound scan.

Multiple follicles look like black bubbles

A triple band of the myometrium in the center of the uterus

When the follicle reaches a certain size (depending on whether or not the patient has been taking fertility medication, this size will vary) a trigger injection can be given. A trigger will lead to ovulation about 36 hours after administration. The treating gynecologist will determine whether there is a need for infertility treatment after a tubal reversal surgery prior to a tubal ligation reversal. It is important that specialists in this very difficult and delicate procedure will determine the likelihood that the patient will even need such treatment BEFORE the tubal reversal surgery. The determination will involve identifying the egg quality to recommend either an IVF procedure or a tubal reversal. This evaluation is based on and mostly determined by the follicles’ growth and ability to ovulate.