Chromosomes are in...
46xx
Our perfectly "normal", healthy little girl.
We also had Zoey's follow up appointment with her surgeon yesterday. He was very pleased with how she is healing and how she is doing overall. Her tummy looks great. He did not see any signs of a hernia. (It can be common for "O" babies to develop umbilical hernias that need to be surgically repaired when they get a little older. We are thankful that, for now at least, it looks as if she will not need another surgery.) Dr. Vaughan will see Zoey again in a month (when we anticipate he will release her from his care) but in the meantime he told us to "just take her home and love her". No problem there, Dr. Vaughan!
When Dr. Vaughan told us how blessed we were that Zoey was doing so well, we let him know that she had a LOT of people praying for her and praying for him as well, as he performed her surgery. He said he "felt" all the prayers. How about that, prayer warriors?
Zoey also had her two-week pediatrician appointment this week. She was up another 8 ounces to 9 lbs 15.5 oz. They had to do her second PKU test, a blood test which requires sticking her heels to get the blood sample they need. Unfortunately, poor Zoey refused to bleed and the nurse had to stick her several times...I quite counting how many times after the third time...each time with a bigger lancet. My poor girl. Poor mommy and Nana, too. That was not fun.
If Zoey continues to do so wonderfully, our final hurtle is a consultation with the genetics folks at Cook's. This will rule out any other potential genetic problems or syndromes that the chromosomes cannot be tested for. Please pray for her on this. We are worried that she may have a rare genetic syndrome, Beckwith-Weideman, that she seems to have some markers for. Beckwith-Weideman doesn't cause any problems, per se, but if she DOES have it, it would put her at a much higher risk for certain childhood cancers. We're trying not to worry about this too much. We're praying she doesn't have it but, if she does, we'll cross that bridge when we get there. Right now, it is enough...more than enough...that she is home and healthy. We are so blessed to have this little girl in our lives.
Sam is doing great with Zoey. He truly loves her. I can't describe the feeling of seeing my kids together. It's amazing. And I know its only going to get better as Zoey grows and they can interact more and really begin building the brother-sister bond. I hope it is as special and as strong as the bond I share with my big brothers.
Next up for Zoey...pediatrician and surgeon appointments in July and then an appointment with the genetics doctors at Cook's in August.
skip to main |
skip to sidebar
“…Because he himself gives all men life and breath and everything else…For in him we live and move and have our being. As some of your own poets have said, 'We are his offspring.'
This is zoe life...
This is zoe life...
About Me
OMPHALOCELE
What is an omphalocele?
An omphalocele is a birth defect, which is an abnormality that occurs before birth as a fetus is forming in its mother's uterus. Some of the abdominal organs protrude through an opening in the abdominal muscles in the area of the umbilical cord. A translucent membrane covers the protruding organs.
The omphalocele may be small, with only a portion of the intestine protruding outside the abdominal cavity, or large, with most of the abdominal organs (including intestine, liver, and spleen) present outside the abdominal cavity. Further, the abdominal cavity itself may be small due to underdevelopment during pregnancy.
What causes an omphalocele?
As a fetus is growing in the mother's uterus before birth, different organ systems are developing and maturing. Between the 6th and the 10th weeks of pregnancy, the intestines actually project into the umbilical cord as they are growing. By the 11th week of development, the intestines should return to the abdomen. When the fetus is growing and developing during pregnancy, there is a small opening in the abdominal muscles that the umbilical cord can pass through, connecting the mother to the fetus. As the fetus matures, the abdominal muscles should meet in the middle and grow together, closing off this opening. An omphalocele occurs when the abdominal organs do not return to the abdominal cavity as they should.
It is not known what causes omphalocele. Steps that normally happen in the development of the abdominal organs and muscles simply did not happen properly. It is not known to be caused by anything the mother did during pregnancy.
Who is at risk for developing an omphalocele?
When an omphalocele is isolated (no other birth defects are present), the risk for it to happen in a future pregnancy is one percent or one in 100. There are some families that have been reported to have an omphalocele inherited as an autosomal dominant or X-linked recessive trait. In these cases, the chance for reoccurrence would be higher.
Many babies born with an omphalocele also have other abnormalities. The chance for reoccurrence depends upon the underlying disorder:
Thirty percent have a chromosomal (genetic) abnormality, most commonly Trisomy 13, Trisomy 18, Trisomy 21, Turner syndrome, or triploidy.
Some infants with omphalocele have a syndrome known as Beckwith-Wiedemann syndrome.
More than half of babies with omphalocele have abnormalities of other organs or body parts, most commonly the spine, digestive system, heart, urinary system, and limbs.
How often does an omphalocele occur?
A "small" type omphalocele (involving protrusion of a small portion of the intestine only) occurs in one out of every 5,000 live births.
A "large" type omphalocele (involving protrusion of the intestines, liver, and other organs) occurs in one out of every 10,000 live births.
More boys than girls are affected with omphalocele.
Why is an omphalocele a concern?
Since some or all of the abdominal organs are outside the body, infection is a concern, especially if the protective membrane around the organs breaks. Also, an organ may lose its blood supply if it becomes pinched or twisted. A loss of blood flow can damage the affected organ.
How is an omphalocele diagnosed?
Omphalocele can often be detected on fetal ultrasound in the second and third trimesters of pregnancy. A fetal echocardiogram (ultrasound of the heart) may also be done to check for heart abnormalities before the baby is born.
After birth, the omphalocele can be noted by the physician during the physical examination. X-rays (diagnostic tests which use invisible electromagnetic energy beams to produce images of internal tissues, bones, and organs onto film) may also be done after birth to evaluate abnormalities of other organs or body parts.
Treatment for an omphalocele:
Specific treatment for an omphalocele will be determined by your baby's physician based on the following:
your baby's gestational age, overall health, and medical history
the extent of the condition
your baby's tolerance for specific medications, procedures, or therapies
expectations for the course of the condition
your opinion and preference
For a "small" omphalocele (only a portion of the intestine protruding outside the abdominal cavity), shortly after birth, an operation is done to return the organs to the abdomen and close the opening in the abdominal wall.
For a "large" omphalocele (most of the abdominal organs, including intestine, liver, and spleen are present outside the abdominal cavity), the repair is done in "stages" and may include the following:
Initially, sterile, protective sheeting is placed over the abdominal organs.
Because the abdomen may be small and underdeveloped, it may not be able to hold all of the organs at once. Therefore, the exposed organs are gradually moved back into the abdomen over several days or weeks.
The abdominal wall is closed surgically once the organs have been returned to the abdominal cavity.
Because the abdominal cavity may be small and underdeveloped, and the organs may be swollen, a baby with an omphalocele may have breathing difficulties as the organs are returned to the abdomen. Your baby may need help from a breathing machine called a mechanical ventilator while the swelling is decreasing and the size of the abdominal cavity is increasing.
What is the long-term outlook for a baby born with an omphalocele?
Problems in the future often depend on:
the size of the omphalocele.
if there was a loss of blood flow to part of the intestine or other organs.
the extent of other abnormalities.
Babies who have damage to the intestines or other abdominal organs may have long-term problems with digestion, elimination, and infection.
An omphalocele is a birth defect, which is an abnormality that occurs before birth as a fetus is forming in its mother's uterus. Some of the abdominal organs protrude through an opening in the abdominal muscles in the area of the umbilical cord. A translucent membrane covers the protruding organs.
The omphalocele may be small, with only a portion of the intestine protruding outside the abdominal cavity, or large, with most of the abdominal organs (including intestine, liver, and spleen) present outside the abdominal cavity. Further, the abdominal cavity itself may be small due to underdevelopment during pregnancy.
What causes an omphalocele?
As a fetus is growing in the mother's uterus before birth, different organ systems are developing and maturing. Between the 6th and the 10th weeks of pregnancy, the intestines actually project into the umbilical cord as they are growing. By the 11th week of development, the intestines should return to the abdomen. When the fetus is growing and developing during pregnancy, there is a small opening in the abdominal muscles that the umbilical cord can pass through, connecting the mother to the fetus. As the fetus matures, the abdominal muscles should meet in the middle and grow together, closing off this opening. An omphalocele occurs when the abdominal organs do not return to the abdominal cavity as they should.
It is not known what causes omphalocele. Steps that normally happen in the development of the abdominal organs and muscles simply did not happen properly. It is not known to be caused by anything the mother did during pregnancy.
Who is at risk for developing an omphalocele?
When an omphalocele is isolated (no other birth defects are present), the risk for it to happen in a future pregnancy is one percent or one in 100. There are some families that have been reported to have an omphalocele inherited as an autosomal dominant or X-linked recessive trait. In these cases, the chance for reoccurrence would be higher.
Many babies born with an omphalocele also have other abnormalities. The chance for reoccurrence depends upon the underlying disorder:
Thirty percent have a chromosomal (genetic) abnormality, most commonly Trisomy 13, Trisomy 18, Trisomy 21, Turner syndrome, or triploidy.
Some infants with omphalocele have a syndrome known as Beckwith-Wiedemann syndrome.
More than half of babies with omphalocele have abnormalities of other organs or body parts, most commonly the spine, digestive system, heart, urinary system, and limbs.
How often does an omphalocele occur?
A "small" type omphalocele (involving protrusion of a small portion of the intestine only) occurs in one out of every 5,000 live births.
A "large" type omphalocele (involving protrusion of the intestines, liver, and other organs) occurs in one out of every 10,000 live births.
More boys than girls are affected with omphalocele.
Why is an omphalocele a concern?
Since some or all of the abdominal organs are outside the body, infection is a concern, especially if the protective membrane around the organs breaks. Also, an organ may lose its blood supply if it becomes pinched or twisted. A loss of blood flow can damage the affected organ.
How is an omphalocele diagnosed?
Omphalocele can often be detected on fetal ultrasound in the second and third trimesters of pregnancy. A fetal echocardiogram (ultrasound of the heart) may also be done to check for heart abnormalities before the baby is born.
After birth, the omphalocele can be noted by the physician during the physical examination. X-rays (diagnostic tests which use invisible electromagnetic energy beams to produce images of internal tissues, bones, and organs onto film) may also be done after birth to evaluate abnormalities of other organs or body parts.
Treatment for an omphalocele:
Specific treatment for an omphalocele will be determined by your baby's physician based on the following:
your baby's gestational age, overall health, and medical history
the extent of the condition
your baby's tolerance for specific medications, procedures, or therapies
expectations for the course of the condition
your opinion and preference
For a "small" omphalocele (only a portion of the intestine protruding outside the abdominal cavity), shortly after birth, an operation is done to return the organs to the abdomen and close the opening in the abdominal wall.
For a "large" omphalocele (most of the abdominal organs, including intestine, liver, and spleen are present outside the abdominal cavity), the repair is done in "stages" and may include the following:
Initially, sterile, protective sheeting is placed over the abdominal organs.
Because the abdomen may be small and underdeveloped, it may not be able to hold all of the organs at once. Therefore, the exposed organs are gradually moved back into the abdomen over several days or weeks.
The abdominal wall is closed surgically once the organs have been returned to the abdominal cavity.
Because the abdominal cavity may be small and underdeveloped, and the organs may be swollen, a baby with an omphalocele may have breathing difficulties as the organs are returned to the abdomen. Your baby may need help from a breathing machine called a mechanical ventilator while the swelling is decreasing and the size of the abdominal cavity is increasing.
What is the long-term outlook for a baby born with an omphalocele?
Problems in the future often depend on:
the size of the omphalocele.
if there was a loss of blood flow to part of the intestine or other organs.
the extent of other abnormalities.
Babies who have damage to the intestines or other abdominal organs may have long-term problems with digestion, elimination, and infection.
No comments:
Post a Comment