Prenatal MRI is used for the first time to detect CCD

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In a first recorded in the United States, radiology team at Lucile Packard Children's Hospital at Stanford, Palo Alto,California has Stanfordapplied prenatal MRI to identify a genetic disease. This disease is Congenital Chloride Diarrhea CCD, which causes dehydration and risky metabolic disorders in babies if it is not treated rapidly.

Dr. Richard Barth, MD and the chief radiologist at Packard Children's and a professor of pediatric radiology at the Stanford University School of Medicine, said "This is a disease where early diagnosis is the key to a good outcome," Dr. Barth mentioned that the CCD is a rare case, affecting only about 250 total cases reported worldwide. He added that babies with CCD are not treated correctly for other diarrhea-causing factors other than genetic cause. "If the patient's fortunate, you could stumble onto this diagnosis," he said. Dr. Barth added that this was the first CCD case he notices. The diagnosis of this case is one of only four known cases of CCD diagnosis ever made using prenatal MRI. A report on the four cases, including three cases from France, was published online on the journal of Ultrasound in Obstetrics & Gynecology. The report is cooperation between Dr. Barth and a team of French scientists in Marseilles.

Barth diagnosed his case back in February 2009, when a pregnant woman was sent to him to have a follow up of an abnormal prenatal ultrasound. That ultrasound marked classic signs of bowel obstruction which is a common fetal problem. For further information about the fetus, Barth made an MRI scan, which showed him finding that could not have been identified by ultrasound. The MRI showed that the fetal colon was filled with fluid. This finding led Dr. Barth to the diagnosis of CCD. When the baby was born at Packard few weeks later, Barth cooperated with obstetrics and neonatology teams in the hospital’s Johnson Center for Pregnancy and Newborn Services to make sure that the infant's fluid and electrolyte levels are monitored beginning right after birth. This was important since the gene mutation causing CCD is damaging a salt-transporting protein in the intestine. This condition prevents the body from absorbing basic electrolytes, leading babies to have large amounts of watery, high-salt diarrhea.

Maurice Druzin, MD, professor and service chief of obstetrics and gynecology at Packard Children's said "These babies can go into shock and die because of the tremendous electrolyte imbalance at birth," Dr. Druzin added that the prenatal diagnosis spared babies being taken to physicians where it would take them a few days to get diagnosed with the correct disease. He said  "The baby could have been in serious trouble by that time," He also referred to the fact that untreated infants surviving this condition at early life might have permanent kidney damage along with feeding problems, severe malnutrition, and delayed growth and motor development.

Neonatologist Susan Hintz, MD, associate professor and medical director of the Center for Comprehensive Fetal Health & Maternal and Family Care at Packard Children's commented on Dr. Barth case saying "In this case, the neonatology team was not just monitoring the baby's electrolytes, but also taking special precautions in terms of feeding," and "We took these steps due to the strong possibility that this was CCD."

As a treatment for infants diagnosed early with CCD, treatment is carried out better including intravenous fluid and salt replacements which compensate diarrhea. While these babies get older, they are to have extra liquids and salts by mouth, or they would undergo newer treatments. For example, the baby girl Dr. Barth diagnosed with CCD is currently having an oral medication that regulates her body's salt uptake and decreases diarrhea. Although these treatments are not curing the disease, the previous diagnosis and treatment will allow this baby to have normal and healthy life.
Dr. Hintz said "Dr. Barth’s experience with difficult cases and the depth of his familiarity with the fetal imaging scientific literature really helped our entire team (to) provide the best possible care for this mother and baby," 

Currently, the baby Dr. Barth diagnosed with the rare CCD condition has reached one year old. Her parents mentioned that she has started to walk and has three teeth. "We are grateful to Dr. Barth," said the baby's mother. "He went out on a limb by diagnosing our baby with an extremely rare disorder and then stood behind his diagnosis, which provided the team with the right direction of treatment. His mood was mixed with both excitement for the technological finding and clear compassion for our circumstances." she added.

Dr. Barth thanked the high-leveled healthcare Packard Children’s presented to the baby and her family. He said “When there’s a fetal anomaly like this, families face an emotional tsunami," he added "But our imaging teams have experience taking on some of the toughest cases in the world, and our collaboration with other hospital subspecialties is really what multidisciplinary care is all about. This reassures families that good outcomes are possible even in the rarest of cases."

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