Facts about Patau Syndrome

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.

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