The week spent waiting for the amniocentesis results is one of the most mentally draining of Yvonne’s life. Her insatiable curiosity leads her to investigate on the web what the doctor called “hydronephrosis.” Her research reveals reports of infant mortality in some cases, while many cases require that the infant undergo corrective surgery.

“Have a seat,” says Dr. Costa, as Yvonne enters her office. “I want you to know that the results of the genetic tests came back normal for your baby girl. What we are dealing with is most likely limited to a congenital condition—in other words, a developmental birth defect—with the left kidney. To be certain, I would like you to see Dr. Steven Solfvin, a pediatric cardiologist. Dr. Solfvin will check to see if there is normal cardiac development in utero. I would also recommend that you see a pediatric nephrologist, Dr. Mark Mackey, on a bimonthly basis for ultrasounds and examinations pre and post birth.”

Yvonne meets with Dr. Solfvin, who confirms by more ultrasonography that the birth defect most likely is limited to the kidney, as the baby’s heart is developing normally. Dr. Mackey confirms the hydronephrosis diagnosis, and suggests that the condition stems from a problem with the baby’s bladder. Dr. Mackey also mentions that until direct imaging is conducted on the child after the birth, he cannot accurately predict the extent of the urinary tract abnormalities.

Yvonne’s preparation for her daughter, whom she names Andrea, intensifies now that she is more than half way through her pregnancy. She is thankful and aware of how fortunate she is that her employer’s medical coverage plan affords nearly full coverage of all medical expenses accrued by her regular visits to various medical specialists for monitoring her unborn child’s health.

One day short of the 35-week mark for the pregnancy, Yvonne is giving an important oral presentation to members of her company’s executive board. As she introduces herself and the topic of her presentation, without any warning signs, Yvonne’s water breaks. While on her way to the hospital, Yvonne can not help but feel that the best laid plans …

Five hours later, baby girl Andrea is born. She weighs 2,925 grams and is 47 centimeters long. Having earned a normal score on the Apgar scale, and making the minimum weight of six pounds, Andrea is admitted to the regular nursery rather than to the neonate ICU. Twenty-four hours after birth, renal and bladder ultrasonography is performed on Andrea in the hospital. The next day, a stress test in her car seat in the hospital (required for all preterm babies) confirms that Andrea is ready to go home. Yvonne is a very happy mother.

During the first few weeks of her life, little Andrea begins daily antibiotic prophylaxis treatment to lessen her risk of urinary tract or kidney infections. She undergoes outpatient trips to the hospital for diagnostic imaging procedures (nuclear renal scans, CT scans, and more ultrasonography) and functional studies such as a voiding cystourethrography to determine the extent of her urinary tract abnormality.

Dr. Mackey makes the diagnosis of ureterocele associated with a duplicated ureteral system. This is a condition where the terminal segment of the ureter is dilated and is ballooning into the bladder. This fluid-filled structure within the bladder causes vesicoureteral reflux to the kidneys. If left untreated, there is a risk for urinary tract infections and obstructive uropathy, which may progress to renal scarring and eventual renal failure.

Dr. Mackey tells Yvonne that this can be corrected by a surgical procedure called transurethral puncture. Although elective, the procedure is strongly recommended by the medical profession. Yvonne is once again faced with a difficult decision: to have Andrea undergo the transurethral puncture now, or delay the surgery until she is older and perhaps has a urinary tract infection.

Yvonne elects for Andrea to have the outpatient procedure. At three months old, Andrea undergoes the transurethral puncture with general anesthesia. Although Andrea’s procedure does decompress the ureterocele, it leads to a complication called kidney reflux that often is seen with this type of corrective surgery. When she urinates, a percentage of the urine goes back up the ureter into the kidney rather than all voiding via the urethra. The severity of kidney reflux will be determined by diagnostic and functional outpatient evaluations every six months to assess the need for secondary surgical procedures.

Medical Update Three Years Later …

Yvonne, in consultation with her gynecologist, underwent a successful cervical conization surgery when Andrea was about two years old, and remains in good health. The extent of kidney reflux in Andrea continued to worsen to the point where at three years of age function in her left kidney was compromised. Now, Yvonne and her family are preparing for Andrea’s upcoming surgery to repair the bladder abnormality and stop the kidney reflux. This surgery will require an open abdominal incision, a few days in hospital, and recovery at home for one to two weeks. Dr. Mackey, the pediatric urologist, explains to Yvonne that this surgical intervention is 98% likely to be all that will be required to permanently correct Andrea’s condition.

Questions

1. When a newborn is delivered, an Apgar score is determined. What is the scale for such a score and what information does it provide the medical practitioner?
2. Diagram the anatomy of the urinary tract from kidney to urethra.
3. What are the common causes of premature births? What sort of medical care in the hospital immediately post birth is necessary for a premature baby, one born much earlier than Andrea?
4. Research the incidence rates of the more common birth defects. How common are ureteroceles? What is the long-term outcome for surgical treatment to repair a ureterocele?
5. Yvonne is faced with making a decision on behalf of her infant that would involve surgical treatment. There are inherent risks with surgery, regardless of age. Research the condition malignant hyperthermia, the most common cause of death related to general anesthesia.

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