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Goldenhar Syndrome Among Infants Born in Military Hospitals to 1990-1991 Gulf War Veterans

Q. Why were you looking at Goldenhar syndrome?

A. We were responding to concerns expressed by Gulf veterans about a possible excess of Goldenhar syndrome among their infants.

Q. How does this differ from Dr. Cowan's study published in the new England Journal of Medicine?

A. Dr. Cowan et. al. compared overall and selected birth defects but not specific or rare syndromes. Further, the data used in his study does not enable one to distinguish Goldenhar syndrome from other problems in the development of head and face.

Q. You looked at over 75,000 births, yet claim that the sample size was insufficient. Why were 75,000 not enough?

A. When a birth defect is very rare, like Goldenhar syndrome, the number of births studied has to be very large in order to ensure that the abnormality was not a chance occurrence.

Q. If the risk is three times higher in 1990-1991 Gulf War Veterans, how can that be statistically insignificant?

A. The risk is an estimate, which can vary broadly. In this case, the risk estimate of Goldenhar syndrome among 1990-1991 Gulf War veterans' infants ranged from being 1.6 times less likely to 20 times more likely, compared to non-deployed veterans' infants.

Q. Are you absolutely certain that there is no difference in the risk among 1990-1991 Gulf War veterans and non-deployed veterans?

A. No. Since the condition is rare and there were few case infants, the statistical power was low. Based on the results from this study, we cannot conclude with precision that there is or is not a difference in risk.

Q. Why do you suggest that 'the results of this investigation be interpreted with caution?'

A. Because the numbers of case infants are few, the study can't determine what is the true risk.

Q. Why were the rates significantly higher among 1990-1991 Gulf War Veteran infants compared to infants born in Hawaii and metropolitan Atlanta?

A. It's unclear. The higher rates could be due to differences in how infants were diagnosed, how cases were identified, differences in the risk for Goldenhar syndrome among these populations, or other unidentified factors.

Q. Why did you stop the investigation (at 1993 births), if the results were inconclusive?

A. This investigation began on October 1995. At that time, electronic data were limited to admissions in military hospitals through September 1993.

Q. Why didn't you include civilian hospitals? Aren't high-risk pregnancies referred to civilian facilities? Don't separated 1990-1991 Gulf War Veterans have a higher risk of illness, and maybe birth defects?

A. We have access to hospital discharge information for all U.S. military hospitals, however, we do not have such access to data from civilian hospitals.

A. If a military hospital does not have the capability to manage a high-risk pregnancy, expectant mother is referred to a civilian hospital with such capabilities. It is unclear whether the high-risk pregnancies referred to civilian hospitals also included pregnancies with a higher risk of Goldenhar syndrome.

A. Our study did not investigate separated 1990-1991 Gulf War Veterans, therefore we are unable to comment on whether or not separated 1990-1991 Gulf War Veterans have a higher risk of having children with birth defects. We are now collaborating with seven state health departments that conduct active case ascertainment of birth defects.

Q. You indicated that you located potential Goldenhar cases through a database of military hospitalizations. Do you think these data are accurate?

A. Yes. We reviewed hospital discharge data for more than 75,000 births and reviewed medical records for 398 infants.

Q. How did the Center for Disease Control (CDC) get involved in this study?

A. On October 12, 1995, the Naval Health Research Center (NHRC) requested the assistance of the Birth Defects and Genetic Diseases Branch at CDC. The expertise of their dysmorphologists, geneticists and epidemiologists were needed in study design, case definition, and case ascertainment.

Q. Could your methodology have failed to identify cases?

A. Yes, it's possible, if they were not reported with any of the hospital discharge codes at birth. Some infants may not have had these codes recorded because the disorder may not have been apparent at birth, or differences in coding practices.

Q. Did all of the cases whom your geneticists identified as Goldenhar cases based on medical records review, also have a diagnoses of Goldenhar syndrome by a geneticist who evaluated them?

A. Yes.

Q. Were there children who were diagnosed with Goldenhar syndrome by doctors who examined them, but who did not meet your case definition?

A. No, not among the 398 infants whose medical records we reviewed. These 398 infants were diagnosed with conditions which might be related to Goldenhar syndrome; 7 infants were diagnosed with Goldenhar syndrome by geneticists, independent of our study, and all 7 infants met our case definition. It is possible, however, that some infants could have later been diagnosed with Goldenhar syndrome after the newborn period.

Q. Did you conduct physical exams on the children? If not, why?

A. No. We only evaluated medical records of infants, and relied on information based on physical exams and other medical evaluations by other clinicians. It was not logistically possible for our two pediatricians to conduct physical exams on the 398 children residing throughout the United States, and in military bases in foreign countries.

Q. What's the prognosis for these children?

A. The prognosis depends on the specific birth defects of each child since they range from those with mild presentations, to those with multiple anomalies. They are likely to require medical intervention, often surgical. Generally, these children do not have learning disabilities.

Q. What causes Goldenhar syndrome?

A. The causes are unknown. Some studies have suggested chromosomal anomalies, maternal diabetes and a history of maternal use of selected medications.

Q. Can Goldenhar syndrome be caused by a parent's exposure to chemical/biological weapons?

A. At present, there is no scientific study that associates Goldenhar syndrome with exposure to chemical/biologic weapons.

Q. What should active duty military parents do if they think their child has a birth defect related to 1990-1991 Gulf War exposures?

A. The child should be evaluated by a medical professional. Free medical evaluations for veterans and family members are available by calling the Department of Veterans Affairs at 1-800-749-8387 or the Department of Defense at 1-800-796-9699.

Q. What can 1990-1991 Gulf War veterans do to protect themselves from having children with birth defects?

A. 1990-1991 Gulf War veterans should follow the normal practices to ensure a healthy pregnancy. Pregnant, women should seek early and regular prenatal care, refrain from smoking, alcohol and drug use, get sufficient maternal nutrition, and follow the U.S. Public Health Service's recommendations to consume 0.4 mg of folic acid every day. All parents should be aware that, unfortunately, about three percent of all infants have birth defects, and the causes of 2/3 of these birth defects are still unknown.

Q. Are there any tests that can he conducted on pregnant mothers to see if their baby has Goldenhar syndrome?

A. Although some of the birth defects seen in Goldenhar syndrome such as ear defects and oral clefts can often be detected by prenatal ultrasound, there is no test that can prenatally diagnose this syndrome 100 percent of the time.

Q. Why did you ignore other birth defects? Will you be doing a similar study with other birth defects? (Including other commonly reported defects?)

A. The Naval Health Research Center (NHRC) has been collaborating with seven state health departments which conduct studies on populations with birth defects. We will be able to compare rates of many specific types of birth defects among 1990-1991 Gulf War veterans, including those who have separated from the military and those who gave birth in civilian hospitals. We will also be able to compare rates of some selected birth defects occurring before and after the 1990-1991 Gulf War.

Q. What other research studies are in progress regarding the reproductive health of veterans of the 1990-1991 Gulf War?

A. In addition to the study mentioned earlier, NHRC is also conducting several studies pertinent to reproductive health. One study is evaluating infertility, delayed conception, and adverse reproductive outcomes including stillbirth, miscarriage, and ectopic pregnancies among 1990-1991 Gulf War veterans; another study is measuring adverse reproductive and perinatal outcomes among women who were pregnant while deployed to the 1990-1991 Gulf War, and finally, a study is being conducted in San Diego to determine the feasibility of conducting birth defects surveillance among military populations by tracking the occurrence of birth defects as they occur among women in the military. Such a surveillance system would enable the Department of Defense to monitor trends in birth defects, and respond quickly to inquiries about specific birth defects, such as those relating to Goldenhar syndrome.

Finally, researchers from the United Kingdom are conducting a study to evaluate adverse reproductive outcomes among their 50,000 1990-1991 Gulf War veterans.

Q. The Association for Birth Defect Children (ABDC) found a higher number of 1990-1991 Gulf War Veteran children with Goldenhar syndrome. Why was your number smaller?

A. The methods used to identify case infants were not similar. ABDC's case infants were reported by the parents, included infants born in civilian hospitals, and those born between 1991-1997. We identified case infants in a systematic and standardized manner, and were limited to infants born in military hospitals between 1991-93.

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