Small Study: ART May Be a Risk Factor for CHARGE, Goldenhar's


ST. PETE BEACH, FLA. — Assisted reproductive techniques may be a risk factor for CHARGE association and Goldenhar's syndrome, a small study suggests.

Of 31 patients with CHARGE association and 20 patients with Goldenhar's syndrome, 7 (23%) were conceived via maternal use of an assisted fertilization technique, Kerstin Stromland, M.D., reported at the annual meeting of the Teratology Society.

Of those with CHARGE association, one boy and one girl were the product of intracytoplasmic sperm injection, and another boy was conceived after his mother's use of ovulation stimulating hormone.

Of those with Goldenhar's syndrome, two twin boys (who had a healthy sibling) and one girl, who had a healthy twin sister, were born following intracytoplasmic sperm injection, and another girl was born after standard in vitro fertilization, said Dr. Stromland of Sahlgrenska University Hospital, Gothenburg, Sweden.

The possible link was identified after mothers completed a questionnaire asking about medical history and use of drugs, alcohol, or tobacco, and following the collection of data from medical records and interviews with parents of the children.

While there are a few publications suggesting a link between CHARGE association and Goldenhar's syndrome and assisted reproduction techniques (ART) this is the first to suggest a specific link between CHARGE association and intracytoplasmic sperm injection, Dr. Stromland said, noting that one possible reason for the lack of reports on such cases is the multiple malformations that characterize these syndromes. That is, patients' deformities are often registered as separate malformations, rather than malformations occurring as part of a syndrome.

Further study is needed to elucidate any relationship between assisted fertilization and these conditions, she concluded.

CHARGE association is a constellation of congenital malformations. The acronym stands for some of the most common features:

▸ Coloboma of the eye and cranial nerve abnormalities.

▸ Heart malformation.

▸ Choanal atresia.

▸ Retardation of growth after birth and of development.

▸ Genital hypoplasia in males and urinary tract.

▸ Ear malformations and/or deafness.

Next Article: