A portrait shot of Beryl Benacerraf, who wears a black shirt and gold necklace and smiles into the camera, on a bluish gray background.
Radiologist and Brigham and Women's Hospital professor Beryl Benacerraf
Brigham and Women's Hospital

Beryl Benacerraf, a renowned radiologist and professor at Brigham and Women’s Hospital, died October 1 of late-stage cancer. She was 73. Benacerraf is best known for discovering that congenital abnormalities such as Down syndrome could be diagnosed through prenatal ultrasound.

“Beryl was a true giant in the field of OB-GYN ultrasound who was known internationally as an expert in obstetrical imaging,” Brigham and Women’s Hospital (BWH) Chief of Ultrasound Mary Frates tells the Brigham Bulletin.

Benacerraf was born in 1949 to parents Baruj Benacerraf, an immunologist who would win the 1980 Nobel Prize for Physiology or Medicine, and Annette Benacerraf, whose uncle Jacques Monod shared the 1965 Nobel Prize in the same category, The New York Times reports. Living with undiagnosed dyslexia, Benacerraf had to develop special strategies to meet deadlines early in her career, but she found a talent for interpreting ultrasound images and picking out abnormalities, according to a profile published last year in the American Journal of Obstetrics and Gynecology. “[The abnormalities] would leap off the image like a beacon!” she said in the profile. “I found it amazing.”

Benacerraf herself suffered pregnancy complications, experiencing contractions for most of her first pregnancy. According to the profile, she suspected these complications stemmed from being exposed to diethylstilbestrol (DES), a synthetic estrogen later found to cause reproductive problems, while she was in utero. Although her son was born healthy, and she delivered a healthy daughter exactly a year later, her first high-risk pregnancy piqued her interest in fetal anatomy and genetics. After setting up a private practice in Boston in 1982, she joined the staff at Brigham and Women’s Hospital to work on fetal imaging. In her ultrasound work, she noticed a pattern: Fetuses with a thickened nuchal fold in their second trimester also had trisomy 21, the genetic cause of Down syndrome. She published four different papers on this discovery, but at first her work was largely met with derision.

“People thought I was this crazy lady,” she said in a 2015 oral history interview with her alma mater Barnard College. “I was almost booed off the stage a couple of times, I was not well accepted.”

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Despite initial skepticism, her finding eventually led to the creation of the genetic sonography field, which greatly improved prenatal diagnosis of fetal syndromes, according to the Bulletin. For her work, Benacerraf received the Ian Donald Gold Medal from the International Society of Ultrasound in Obstetrics and Gynecology, the Marie Sklodowska-Curie Award from the American Association for Women Radiologists, and the Lawrence A. Mack Lifetime Achievement Award from the Society of Radiologists in Ultrasound.

“She was more than a great colleague,” Carol Benson, the codirector of high-risk obstetrical ultrasound at BWH, tells the Bulletin. “She was also a terrific friend, and she will be greatly missed.”