The American College of Obstetricians and Gynecologists is calling on ob.gyns. to establish a standard carrier screening process that is consistently offered to all patients before pregnancy.
This a shift from previous ACOG policy, which recommended carrier screening based mainly on ethnicity.
In a pair of opinions from ACOG’s Committee on Genetics, they highlighted three acceptable screening methods: ethnic-specific screening, panethnic screening, and expanded-carrier screening (Obstet Gynecol. 2017;129:e35-40/Obstet Gynecol. 2017;129:e41-55).
Panethnic and expanded-carrier screening are especially helpful for patients with parents of different ethnic backgrounds or those who do not know their family history, situations that have become more common.
Dr. Joseph R. Biggio
“In reality, over the last 5-7 years, the amount an obstetrician has to counsel patients on carrier screening and prenatal screening has grown immensely,” Dr. Biggio said in an interview. “Trying to find the time to do it and do it well, is a challenge. What is important is all practitioners have a way to approach offering carrier screening in their practice setting.”
While the committee advises crafting a process that fits individual practice needs, there are some general recommendations:
- Test only for diseases with a carrier frequency of 1 in 100 or greater, have a well-defined phenotype, have a detrimental effect on quality of life, cause cognitive or physical impairment, require surgical or medical intervention, or have an onset early in life.
- All patients, regardless of screening strategy and ethnicity, should be checked for cystic fibrosis and spinal muscular atrophy, and also undergo a complete blood count and screening for thalassemias and hemoglobinopathies.
- Prenatal carrier screening does not replace newborn screening, and at the same time, newborn screening does not diminish the potential benefits of prenatal carrier screening.
“Practitioners should be testing patients for these diseases as early as possible,” Dr. Biggio said. “A consistent approach to screening consultation will help with that immensely.”
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