Preconception or Prenatal Genetic Testing of Potential Parents
Ancestry* | Disorder | Parental Genetic Carrier Screening Tests | Prenatal Fetal Genetic Diagnostic Tests (if parental carrier testing is positive) |
|---|---|---|---|
All | DNA analysis of at least the 23 most common CFTRpathogenic gene variants (formerly termed mutations), each of which is present in ≥ 0.1% of the US population | PGD, CVS, or amniocentesis for genotype determination* | |
Ashkenazi Jewish† | Canavan disease | DNA analysis to detect the most common pathogenic gene variants | PGD, CVS, or amniocentesis for DNA analysis |
Familial dysautonomia | DNA analysis to detect the most common pathogenic gene variants | PGD, CVS, or amniocentesis for DNA analysis | |
Measurement of serum hexosaminidase A to check for deficiency or DNA analysis | PGD, CVS, or amniocentesis for DNA analysis | ||
African | Hemoglobin electrophoresis | PGD, CVS, or amniocentesis for genotype determination (direct DNA analysis) | |
Cajun | Tay-Sachs disease | Measurement of serum hexosaminidase A to check for deficiency or DNA analysis | PGD, CVS, or amniocentesis for DNA analysis |
Southeast Asian, Asian Indian, African, Mediterranean, Middle Eastern | CBC; if MCV is < 80 fL, hemoglobin electrophoresis or DNA analysis | PGD, CVS, or amniocentesis for genotype determination (direct DNA analysis or linkage analysis) | |
Southeast Asian, Cambodian, Chinese, Filipino, Laotian, Vietnamese | CBC; if MCV is < 80 fL, hemoglobin electrophoresis or DNA analysis | PGD, CVS, or amniocentesis for genotype determination (direct DNA analysis or linkage analysis) | |
* Definitive diagnosis is not always possible; sensitivity varies by ancestry. Some ancestries are included in this table; this is not a comprehensive list. See Committee Opinion No. 691: Carrier Screening for Genetic Conditions. Obstet Gynecol 129(3):e41-e55, 2017. doi:10.1097/AOG.0000000000001952 for more information. | |||
† For people with Ashkenazi Jewish ancestry, some experts also recommend screening for Gaucher disease, Niemann-Pick disease type A, Fanconi syndrome group C, Bloom syndrome, and mucolipidosis IV. | |||
CBC = complete blood count; CFTR = cystic fibrosis transmembrane conductance regulator; CVS = chorionic villus sampling; PGD = preimplantation genetic diagnosis; MCV = mean corpuscular volume. | |||