Newswise — Performing chorionic villus sampling (CVS) for prenatal diagnosis may lead to an increased rate of blood vessel malformations called hemangiomas in infants, according to a review in the November Journal of Craniofacial Surgery. The journal is published by Lippincott Williams & Wilkins, a part of Wolters Kluwer Health, a leading provider of information and business intelligence for students, professionals, and institutions in medicine, nursing, allied health, pharmacy and the pharmaceutical industry.
Dr. Lewis B. Holmes of Massachusetts General Hospital for Children, Boston, reviews past research on the possible link between CVS and the development of hemangiomas, limb defects, and certain other malformations. According to Dr. Holmes, the findings suggest—but do not prove—some possible ways in which CVS might lead to "vascular disruption defects or hemangiomas." Hemangioma Risk May Be Increased—Most Deformities Are MildChorionic villus sampling is a frequently performed prenatal test in which a small sample of the placenta is obtained early during pregnancy to look for evidence of genetic diseases. The procedure is generally considered safe. However, in the past decade, several published reports have suggested "occasional fetal effects" in infants undergoing CVS, including an increased rate of hemangiomas.
Hemangiomas are common blood vessel malformations, caused by abnormal growth of the cells lining the blood vessels (endothelial cells). They range from small birthmarks to large malformations causing serious deformity.
The available evidence suggests that most hemangiomas occurring after CVS are "infantile hemangiomas," according to Dr. Holmes. These hemangiomas are typically not visible at birth, appearing after the infant is a few weeks old. In most cases, the hemangiomas disappear later in childhood.
A few studies have compared hemangioma rates in infants undergoing CVS versus those undergoing amniocentesis (a different type of prenatal test). The limited data suggest that certain types of hemangiomas may be about three times more common in infants who underwent CVS. One study found that infants undergoing CVS were more likely to have multiple hemangiomas.
Limb and Other Defects Are Possible TooDebate also continues over a possible link between CVS and birth defects involving the limbs, especially the fingers. Evidence suggests that these risks are higher if CVS is done earlier in pregnancy—for example, at 8 to 9 weeks.
One large study found that defects affecting two fingers occurred in about 1 in 3,000 infants who had undergone CVS, compared to 1 in 54,000 infants not undergoing CVS. Another study described a specific type of finger defect that appeared to occur only in infants who underwent CVS. Other deformities of structures containing "end arteries"—such as the brain stem, tongue, spinal cord, and intestine, as well as fingers and toes—have been suggested as well.
The way in which CVS may cause hemangiomas is unclear, although it may be related to damage caused by bleeding from the placenta. Another possibility is endothelial cells being transferred from the placenta to the skin of the fetus. "A question to be answered is whether the infantile hemangiomas in CVS-exposed children differ in immunohistologic characteristics from similar hemangiomas in children not exposed to CVS during pregnancy," Dr. Holmes writes.
More research will be needed to help determine whether and how CVS leads to an increased risk of hemangiomas and other defects. "Women should certainly discuss this and other potential risks of CVS with their obstetrician," adds Dr. Mutaz B. Habal, Director of Tampa Bay Craniofacial Center in Tampa, Fla. and Editor-in-Chief of JCS. "However, CVS is generally done for prenatal detection of serious genetic diseases like Down's syndrome in pregnancies at high risk. The benefits of knowing the test results could outweigh the possible risk of hemangiomas or other abnormalities." About The Journal of Craniofacial SurgeryThe Journal of Craniofacial Surgery (http://www.jcraniofacialsurgery.com) serves as a forum of communication for all those involved in craniofacial and maxillofacial surgery. Coverage ranges from practical aspects of craniofacial surgery to the basic science that underlies surgical practice. Affiliates include 14 major specialty societies around the world, including the American Association of Pediatric Plastic Surgeons, the American Academy of Pediatrics Section of Pediatric Plastic Surgery, the American Society of Craniofacial Surgeons, the American Society of Maxillofacial Surgeons, the Argentine Society of Plastic Surgery Section of Pediatric Plastic Surgery, the Asian Pacific Craniofacial Association, the Association of Military Plastic Surgeons of the U.S., the Brazilian Society of Craniofacial Surgeons, the European Society of Craniofacial Surgery, the International Society of Craniofacial Surgery, the Japanese Society of Craniofacial Surgery, the Korean Society of Craniofacial Surgery, the Thai Cleft and Craniofacial Association, and the World Craniofacial Foundation.
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