Posts Tagged ‘trisomy’

Knit in my womb

October 7th – Compiling all the info I know about our precious Son.

Trisomy 13:

Trisomy 13 occurs in about 1 out of every 8,000 to 12,000 newborns. Patau syndrome is caused by the presence of an extra copy of chromosome 13, generally present at conception and transmitted to every cell in the body. Most cases are not passed down through families (inherited). Instead, the events that lead to Trisomy 13 occur in either the sperm or the egg that forms the fetus. Patau syndrome is the least common and most severe of the viable autosomal trisomies. Median survival age for children with Patau syndrome is 2.5 days, with only one in 20 children surviving longer than 6 months. However, some children survive into their teens and seem to fare better than might be expected based on reports from those who die in the perinatal period. Reports of adults with Patau syndrome are rare. The sex ratio at birth is slightly skewed toward females, presumably because of decreased survival among males, with continued skewing of the ratio further toward females as these children age.

Symptoms    –   (* symptoms we know our son has)

Cleft lip or palate – 70-80% of cases

* Clenched hands (with outer fingers on top of the inner fingers) * one picture with hands open!  🙂

* Close-set eyes – 60-70% of cases

Decreased muscle tone

Extra fingers or toes (polydactyly)

* Hernias: Umbilical hernia/Omphalocoele, inguinal hernia – 13% of cases

Hole, split, or cleft in the iris (coloboma)

* Low-set ears

* Mental retardation, severe (semi-lobar holoprosencephaly) – found in 60-70% of trisomy 13 patients (Severe mental deficits are prevalent in trisomy 13, occurring in 100% of cases.)

Scalp defects (missing skin)

Seizures

Single palmar crease

Skeletal (limb) abnormalities

Small eyes

Small head (microcephaly)

* Small lower jaw (micrognathia)

Undescended testicle (cryptorchidism)

* Single umbilical artery – 13-28% of cases

Fig 1. Kaplan-Meier survival curve (solid line) and 95% CIs (dashed lines) for children with trisomy 13, metropolitan Atlanta, 1968–1999 (truncated at 1 year).


Umbilical Hernia/ Omphalocoele

During the growth of the fetus, the intestines grow more rapidly than the abdominal cavity. For a period, a portion of the intestines of the unborn child usually lies outside the abdomen in a sac within the umbilical cord. Normally, the intestines return to the abdomen, and the defect is closed by the time of birth.

Occasionally, the abdominal wall does not close solidly, and umbilical hernia results. This defect is more likely to be seen in premature infants and in girls than boys.

Large and giant omphaloceles should be delivered at a high level tertiary center with pediatric surgery expertise and very good neonatology support. These babies often require prolonged respiratory support during reconstruction. Often, babies with large omphaloceles are delivered by Cesarean section.

Extremely large omphaloceles are not surgically repaired until the baby grows. They are treated by topical placement of painless drying agents on the omphalocele membrane. Babies born with omphaloceles can stay in the hospital from one week to one month after surgery, depending on the size of the defect. The baby’s ability to tolerate feedings will determine the length of stay in the hospital.   Babies are discharged from the hospital when they are taking all their feedings by mouth and gaining weight.

Please read Caitlyn’s Story! http://www.caitlynsstory.com/medical.htm

Holoprosencephaly

A frequent brain malformation associated with Patau syndrome, is associated with severe neurological impairment; development of the structural features of the mid face is disrupted when holoprosencephaly is present. Serious cardiac anomalies are often present. Most common causes of death are cardiopulmonary arrest (69%), congenital heart disease (13%), and pneumonia (4%). Survivors with Patau syndrome exhibit severe mental retardation and developmental delays and are at increased risk for malignancy. Infants who survive the neonatal period have an average length of stay in a neonatal ICU of 10.8 days.

Holoprosencephaly, a condition in which the two hemispheres of the brain are fused, is found in 60-70% of trisomy 13 patients. Holoprosencephaly is also associated with cleft lip/palate and other facial malformations


SUA/ Single Umbilical Artery:

Normally, when the umbilical cord develops, it forms three vessels: two arteries and one vein. However, in some cases, just one artery develops. Precisely why this occurs is not entirely known. It is suspected, though, that one artery may simply stop growing as it develops or perhaps that the primordial umbilical artery does not divide properly.

This malformation of the umbilical cord has been found to affect between 0.5% and 7% of pregnancies and 1 in 100 live births. Caucasian women are twice as likely to experience this complication compared to Japanese and Black women. Additionally, women having a multiple pregnancy are three to four times as likely to develop SUA. Other factors that may increase your risk:

  • Advanced maternal age (over 40) – Not ME
  • Having 3 or more previous children – Not ME
  • Diabetes – Not ME
  • Female fetal sex – Not ME

Anywhere from half to two-thirds of babies born with single artery umbilical cord are born healthy and with no chromosomal or congenital abnormalities. Of the remaining babies with SUA, some studies suggest that about 25 percent have birth defects, including chromosomal and/or other abnormalities. These can include trisomy 13 or trisomy 18. However, the most common pregnancy complications that occur in infants with SUA are heart defects, gastrointestinal tract abnormalities and problems with the central nervous system. The respiratory system, urinary tract, and musculoskeletal system may also be affected. One in five babies affected by SUA will be born with multiple malformations.

There are 2 purple veins shown around the umbilical cord in the illustration. Our son only has one.

 

Doing all this research has really helped me feel like I KNOW my son and am truly amazed and blessed that he is still alive!

Father, I thank You for creating my son. I know each strand of his DNA was fashioned by You, stitch by stitch, loop by loop, with a love that calls him to life. He was created in love, and for love. And in my heart, I want to express my love back to you for being such a wonderful Father to me that You would knit him together in my womb. In the name of Your beloved Son Jesus, I pray. AMEN.

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