A radiologist with an uncanny visual sense, she revolutionized the diagnosis of fetal abnormalities like Down syndrome.
Oct. 21, 2022
Dr. Beryl Benacerraf, a radiologist with an uncanny visual sense who revolutionized the diagnosis of fetal abnormalities like Down syndrome through the use of ultrasound technology, died on Oct. 1 at her home in Cambridge, Mass. She was 73.
Her son, Oliver Libby, said the cause was cancer.
Dr. Benacerraf — who was a professor of obstetrics, gynecology and reproductive biology and radiology at Harvard Medical School and Brigham and Women’s Hospital in Boston in addition to having a private practice — had struggled academically when she was young because of what she eventually determined was undiagnosed dyslexia.
Her later success in using ultrasound images to detect congenital anomalies and gynecological disorders, she said, was tied to “the flip side of that whole problem.”
“Pictures just speak to me,” she said in an interview for an oral history project for Barnard College, her alma mater. “I can look at a picture and I can see the pattern. I can see things that nobody else can see.”
Perhaps the most notable product of that ability was her discovery that a thickening of a patch of skin at the back of a fetus’s neck, known as the nuchal fold, was associated with Down syndrome and other chromosomal disorders.
Before Dr. Benacerraf conducted her research, screening for such defects was generally limited to women 35 and older, those thought to be at greatest risk, and conducted by amniocentesis, an invasive procedure that in a small number of cases can cause miscarriage or other harm.
Her first papers suggesting ultrasound’s potential for offering an effective, less invasive form of fetal screening — available to women of any age — were published in 1985. They were not warmly received.
“I was almost booed off the stage at several national meetings, and papers emerged discrediting my research and me,” Dr. Benacerraf said in an interview with the American Journal of Obstetrics & Gynecology published last year. “I was devastated, but that much more determined to prevail because I knew I was right.”
Her determination was vindicated: As ultrasound became a routine part of prenatal care, so did measuring the thickness of the nuchal fold. The screening, which is now typically augmented by blood tests, was based on her research.
Beryl Rica Benacerraf (pronounced buh-NASS-uh-raff) was born in Manhattan on April 29, 1949. Her father, Dr. Baruj Benacerraf, a Venezuelan-born immunologist, later shared the 1980 Nobel Prize in Physiology or Medicine for findings related to genetics.
Her mother, Annette (Dreyfus) Benacerraf, a homemaker, belonged to a prominent French Jewish family that included the army captain at the center of the contentious episode known as the Dreyfus affair. Annette Benacerraf’s uncle Jacques Monod also shared a Nobel Prize in Physiology or Medicine, in 1965.
The Benacerraf home in Manhattan was a “French oasis,” Dr. Benacerraf said in the 2021 interview. She was often asked to play the flute at dinner parties where the guests included classical music luminaries and scientists like Francis Crick, the British biologist who helped decipher the DNA molecule’s double-helix structure.
Beryl, an only child, attended the private all-girls Brearley School in Manhattan but, she said, struggled because of her dyslexia. In an effort to cope with it, she adopted a method of completing assignments as soon as she got them — a practice she would employ throughout her life.
“This habit keeps me organized and prevents me from taking on more tasks than what I know I can do,” she said.
Despite poor grades, she was accepted at Barnard, her mother’s alma mater. She excelled academically and worked at the Columbia University radio station, WKCR, overseeing classical music programming and anchoring news reports.
In an effort to overcome her dyslexia, she took the popular Evelyn Wood speed reading course, twice, to no avail. (She cashed in on the money-back guarantee both times.)
After graduating in 1971, she traveled to Italy, unsure of a career path. While living there, she decided to become a doctor and took the Medical College Admission Test. Her predictably poor score became moot when the results were lost.
She was accepted at the Columbia University College of Physicians and Surgeons, which at the time did not require the test. Her father’s stature helped ease her entry there, as well as her subsequent transfer to Harvard Medical School, but his admonitions loomed over her.
“My father once told me that ‘whatever you end up doing, if you’re not the best in the world there’s no point in doing it,’” she said in the Barnard interview. “So I grew up with that kind of background.”
Her dyslexia, she found, did not hamper her medical studies.
“You can get through medical school by going to all the classes, by listening, by watching,” she said. “The books have a lot of graphs and images and charts.”
In 1975, she met Peter Libby, a fellow Harvard medical student. They were married that year. When she graduated in 1976, she planned to become a surgeon and was accepted for an internship at Brigham and Women’s. But she found the field unwelcoming to women and decide to change course.
Considering her options, she recalled what a senior radiologist had told her during a medical school rotation: that even from the back of a room, she could spot an abnormality in an image. “You have a gift that I’ve never seen before,” he told her.
She completed a radiology residency at Massachusetts General Hospital, followed by a fellowship at Brigham and Women’s in ultrasound, which was then still a rudimentary discipline. She chose that field because she wanted to have children and did not want to be exposed to radiation.
After completing her fellowship and giving birth to a son and a daughter precisely a year apart, Dr. Benacerraf was unable to get a hospital job in Boston and opened her own practice there, Diagnostic Ultrasound Associates, in 1982.
In addition to her son and her husband, a cardiologist and a professor of cardiovascular medicine at Harvard Medical School, Dr. Benacerraf is survived by her daughter, Brigitte Benacerraf Libby, and three grandchildren.
For 10 years after opening her practice, Dr. Benacerraf said in the oral history interview, she was effectively the only doctor in the Boston area who specialized in prenatal ultrasound. As a result, her practice grew quickly, as patients from around New England and beyond sought her out.
During this period she arrived at her finding relating to the nuchal fold, as well as discoveries about, among other things, the development of fetal hearing. In recent years she shifted her focus to gynecological imaging and conditions like endometriosis, pelvic pain and ovarian cancer.
In the course of her four-decade career, Dr. Benacerraf saw tens of thousands of patients while publishing hundreds of journal articles and several books. She also trained legions of doctors. One of them, Dr. Laura E. Riley, the chair of obstetrics and gynecology at Weill Cornell Medicine in New York, described Dr. Benacerraf in an interview as “incredibly brilliant” and “a great teacher.”
She also called Dr. Benacerraf a “trailblazer” in using ultrasound in the service of women’s reproductive health — in most instances to reassure expectant mothers.
“Her diagnostic ability,” Dr. Riley added, “was second to none.”