Carrier Screening

Even if no one in your family has any known genetic diseases, you may carry a gene that increases your risk of genetic disease in your offspring. Carrier screening of genetic disorders common in all populations can provide important information to you and your doctor before pregnancy. NRM has partnered with GoodStart Genetics to offer our patients the most advanced technology available to screen for genetic disease.

The American College of Obstetrics and Gynecology (ACOG) recommends all women undergo routine prenatal screening for Cystic Fibrosis; the American College of Medical Genetics recommends both Cystic Fibrosis and Spinal Muscular Atrophy. Further tests may be recommended by your physician based on your ethnicity; alternatively, pan-ethnic screening may be performed for the most commonly-carried disorders.

Carrier screening is often covered by insurance, even if other aspects of reproductive healthcare, such as IVF, are not covered.

Cystic Fibrosis

• CF is characterized by chronic respiratory and digestive problems; symptoms range from mild to severe.
• CF is the most common fatal genetic disease in Caucasians– yet with treatment today, individuals with severe CF can live into their 30’s.
• Most carriers have no symptoms or family history of CF.
• The incidence of CF in the US is about 1 in 3,600, but the carrier frequency for individuals maybe as low as 1 in 23 (Ashkenazi Jewish), 1 in 25 (Caucasian), or 1 in 58 (Hispanic).
• If both parents are carriers, the risk of having an affected child is 1 in 4 (25%).

Spinal Muscular Atrophy (SMA)

• SMA is characterized by severe muscle weakness and progressive loss of voluntary muscle control.
• In severe cases, SMA results in death before two years of age.
• Most carriers have no symptoms or family history of SMA.
• The incidence of SMA is about 1 in 10,000 in the US. Carrier frequency depends on ethnicity but may be as low as 1 in 47 (Caucasian) or 1 in 59 (Asian American).
• If both parents are carriers, the risk of having an affected child is 1 in 4 (25%).

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