There are a few diagnostic tools available to detect chromosomal abnormalities after a tubal reversal pregnancy occurs. Many women who had previously chosen to have their tubes closed are undergoing tubal reversal procedures many years later for want of another child or two. When a pregnancy occurs after the tubal reversal, some concerns crop up about conceiving a child with Down syndrome. These tests are not solely done for mothers after a tubal reversal pregnancy. Parents with a history of chromosomal abnormalities in the family are also encouraged to have these tests as well.

Second Trimester Screening Test for Down Syndrome

A Quad Screen is a maternal blood screening test that is similar to the Triple Screen Test (also know as AFP Plus and the Multiple Marker Screening). However, the Quad Screen looks for not only the three specific substances evaluated in those tests (AFP, hCG, and Estriol) but also a fourth substance known as Inhibin-A. It is done mainly to determine the risk of the pregnant mother carrying a child with Down syndrome. This blood analysis is usually performed between the 16th and 18th week of pregnancy. A high-risk mother is then advised to have further testing which will analyze cells from the fetus for the presence of structural chromosomal problems.

First Trimester Screening Test for Down Syndrome

Nuchal translucency ultrasound is a diagnostic tool used to evaluate the fetus for Down syndrome. It is performed between 11 to 13 weeks of pregnancy, and is usually combined with a plasma protein-A analysis. Lower levels of plasma protein-A from the 8th to the 14th week of gestation can indicate increased risk for Down syndrome and other gestational problems such as intrauterine growth restriction and premature delivery.

Other Tests Performed After a Tubal Reversal Pregnancy

Aside from the Quad Screen test, there are other tests which can be done following a tubal reversal pregnancy.

— Determination of inhibin A (IH-A)

— Amniocentesis

— Chorionic villus sampling (CVS)

— Percutaneous umbilical cord blood sampling (PUBS)

— Preimplantation genetic diagnosis (PGD)

A Quad Screen is a maternal blood screening test that is similar to the Triple Screen Test (also know as AFP Plus, the Kettering test, the Bart’s test, and Multiple Marker Screening). However, the Quad Screen looks for not only the three specific substances evaluated in those tests (AFP, hCG, and Estriol) but also a fourth substance known as Inhibin-A. It is done mainly to determine the risk of the pregnant mother carrying a child with Down syndrome. Many patients who have had a tubal ligation reversal are older and will opt for this screening test. This blood analysis is usually performed between the 16th and 18th week of pregnancy. This is used to categorize a patient as either high-risk or low-risk. A high-risk mother is then advised to have further testing which will analyze cells from the fetus for the presence of structural chromosomal problems.

What is meant by a positive Quad Screen?

A positive test means having a high risk of chromosomal abnormalities or neural tube defects. The Quad Screen can be implicated as an early precursor with an extensive deal of ensuing scientific improvements to deal the underlying problems. Patients with a positive screening are then further recommenced for more insightful and specific procedures. Most tubal reversal patients will elect to undergo invasive procedures such as an amniocentesis.

Sensitivity adjustments of the Quad Screen:

Although 78% sensitivity and 5% false-positive rate of the test makes it widely available in most countries as a common option to classify risk, the estimated sensitivity of the risk is calculated and attuned on certain factors including:

o the expectant mother’s age

o diabetic condition of the mother

o twins or other multiple gestation

o the gestational age

o weight of the mother

o ethnicity may also be adjusted in markers

These factors influence the markers, and thus interpretation is indicated for the increased risk.

Integrated Screening

This involves combined first-trimester nuchal translucency and PAPP –A, plus second-trimester Quad Screening, and improves sensitivity to 90%. As most tubal reversal pregnancies occur in older patients, many will opt for the Integrated Screen.

Limitations of the Quad Screen:

1. The test is not for a definite diagnosis

2. The test is only a precursor for more predictive amniocentesis.

3. The age of the mother is indicative for amniocentesis.

How is Trisomy 13 Diagnosed?

Due to the fact that Trisomy 13 has a distinctive set of physical characteristics, a doctor may be able make a diagnoses simply by performing a physical examination. The risk of Trisomy 13 does not increase as a result of a tubal reversal, but the risk does increase with age. To either rule out or verify this disorder, a small blood test can be performed. This blood test, a chromosomal analysis, allows doctors to ultimately verify the existence of an extra #13 chromosome.

Babies with Trisomy 13 generally have low birth weights and look premature even when they are at full-term. Babies with Trisomy 13 often have a small head with an inclined, or prone, forehead. This abnormality is due to structural malformations in the scull and in the brain. In babies with this particular genetic disorder, these characteristics can be identified after birth. Genetic disorders are not increased by a tubal reversal surgery.

Holoprosencephaly (a disorder that causes the front of the brain to be divided improperly) is also common in babies with Trisomy 13. Holoprosencephaly leads to structural problems in the growth of the baby’s face. These babies tend to have close-set eyes, cleft lips, and cleft palates. Their nostrils are not fully grown and their ears are low-set with abnormal shapes. In many cases, skin problems such as cutis aplasia (a scalp abnormality that looks like ulcers on the scalp), birthmarks (purplish-red in color), or hemangiomas (abnormal blood vessels) are also present.

Other major problems for Trisomy 13 babies include:

• Extra fingers and toes (polydactyly)
• Heart defects
• Kidney problems
• Abdominal wall disorders (omphalocele or gastroschisis)
• Malformations of the uterus

Diagnosis before birth

Any chromosomal abnormality, such as Trisomy 13, can be diagnosed before birth. The cells from the amniotic fluid or from the placenta can show defects. A fetal ultrasound (performed during a pregnancy) is not always 100 percent accurate, but can predict whether or not the fetus is at risk. To confirm the physical findings, a blood test can be taken and chromosomes can be analyzed to determine the presence of an extra #13 chromosome. As most tubal ligation reversal patients are older, and maternal age is a predictor for Trisomy 13, many tubal reversal patients will opt for definitive diagnosis prior to birth.

Correlation between Trisomy 13 and tubal ligation reversal

As a woman’s age increases, her chances of having a baby with a chromosomal abnormality also increases. Most women who desire a tubal reversal are older than the average woman trying to get pregnant. In general, the woman who opts for tubal reversal has previously had at least a couple of children before she decided to have her tubal ligation performed. Since these women are older, they are at increased risk for chromosomal abnormalities due to their age, and not due to the actual tubal reversal surgery. A tubal ligation reversal has no affect whatsoever on the risk of a Trisomy 13 or any other chromosomal abnormality.

Tubal ligation has been a long-term choice for women as a form of stable birth control, but it is also reversible. Tubal reversal gives fertility back and can possibly help those who experience PTLS. For many women, the tubal ligation procedure goes efficiently well but it is also thought that some women may experience Post Tubal Ligation Syndrome as a side effect. The reality of these symptoms is questionable in medical studies. Many women want to have tubal ligation reversal due to Post Tubal Ligation Syndrome.

Possible Risks of a Tubal Ligation

The possibility of tubal ligation failure has the greatest risk for ectopic pregnancy. It is debatable and questionable that Post Tubal Ligation Syndrome consists of only a few medical symptoms or that it is possibly a direct side effect and/or another risk of tubal ligation. In most studies, those who do have symptoms after having a tubal ligation consider these symptoms Post Tubal Ligation Syndrome.

What is considered the major cause of these symptoms?

Several of the symptoms of PTLS (Post Tubal Ligation Syndrome) are linked with having estrogen or progesterone imbalance. There are many research and case studies leading to controversies about these hormone imbalances. It is assumed that imbalance may be the direct result of capillary damage and decreased blood supply to the ovaries during the surgery. The damage to the veins and capillaries is quite varied and slight damage may possibly result in a slight estrogen progesterone imbalance.

For a woman who has both of her ovaries still functioning, if blood supply was not damaged to the uterus and ovaries, then she may experience PTLS due to estrogen/progesterone imbalance by some change in her hormonal message relay system.

Hormonal message relay system destruction is questionable

The assumption behind this is destruction of “target” or “receptor” cells that are significant in the relay of hormonal messages for the female reproductive system. It is unspecified that these cells might be injured, damaged, and or detached during the tubal ligation surgery. Having assumed that these target or receptor cells are positioned within the fallopian tube, many people consider a tubal ligation to be the cause of the destruction of some of these cells. For patients who believe this hypothesis, a tubal reversal would not be an option to reverse symptoms of PTLS. Tubal reversal should only be performed for patients who therefore have a strong belief that the symptoms are related to blockage of their fallopian tubes.

If you or someone you know has recently undergone tubal ligation reversal you probably have concerns about how this procedure can influence the health of a pregnancy. Particularly as women get older and undergo procedures like a tubal ligation reversal to allow them to become pregnant again, they want to know more about what risks there are to their health and to the health of their children. In some instances after a tubal ligation reversal, moms may have questions about their baby’s risk for genetic abnormalities like Patau Syndrome (also called trisomy 13). This disorder is caused by the fetus inheriting more copies of chromosome 13 than normal. Although severe, Patau Syndrome is thankfully rare and not more common in mothers who have undergone tubal reversal.

The average rate of Patau Syndrome is about one in 10,000 live births. Patau Syndrome can be detected during a prenatal ultrasound by your obstetrician noticing abnormalities in your baby’s appearance. Again, although women who have undergone tubal reversal are not more likely to experience this disorder, tubal reversal patients are typically older than the average mom and as a result of their age tubal reversal patients are at an increased risk. If you have concerns about your babies health and the affects that tubal ligation reversal can have on your pregnancy be sure to discuss your concerns with your obstetrician or gynecologist.

Signs and symptoms of babies born with trisomy 13 (three copies instead of two):

• Impaired motor coordination
• Mental retardation
• An abnormally small (microcephaly) or large head (macrocephaly)
• Low-set abnormally shaped ears
• Extra fingers (polydactyly)
• Abnormal palm creases
• Brain abnormalities
• Heart defects
• Deformed feet that may have a “rocker-bottom” appearance
• Prominent heels
• Eye defects
• Cleft palate
• Spinal defects
• Intestinal defects with an incompletely formed abdomen
• Abnormal genitalia
• Overlapping of fingers over thumb
• Kidney defects

Because the abnormalities associated with Patau Syndrome are severe, most babies surviving until delivery will die soon thereafter. Eighty percent of affected infants die within the first month of life and only 5 percent survive to be six months. When babies do survive they are likely to have severe intellectual disability, seizures, and difficulty growing and learning new skills.

Most cases of Patau Syndrome are not inherited from a mom or dad directly, like eye color, rather Patau Syndrome occurs randomly as a result of incorrect division of genetic material from either the mom’s egg or the dad’s sperm prior to fertilization. Because there is no inherited cause, the disease is said to be sporadic and is not more likely to occur in another child should the mom become pregnant in the future – regardless of whether she has undergone tubal ligation reversal. Rarely, one parent can be a carrier of this extra genetic material and have just a very mild disease. In those instances, recurrence is higher than the general population as the genetic defect can be directly passed on to the infant. It is also possible that only some of the cells in an infant’s body will have the extra genes in a form called mosaicism. Mosaicism is very rare. The chance of having another trisomy 13 affected child is less than 0.01%.

If a child is diagnosed with trisomy 13 it is important that the parents trust their obstetrician or gynecologist and have open conversation about their concerns and wishes for their child. In situations where the obstetrician or gynecologist and patient have developed a relationship, such as with a prior child or in cases where the mother has undergone a tubal reversal prior to becoming pregnant, any discussion about the decisions facing the family can be comforting. For infants with Patau Syndrome, care is decided based on the specific medical situation and the family’s wishes. Generally, treatment is aimed at providing comfort to the baby and to the family during this difficult time. Although long-term survival is not expected, psychological, physical, medical, occupational, and speech therapy can help families and infants cope and reach their full developmental potential.