Pregnancy Chart of Genetic Screening Recommendations for Various Ethnic and Age Groups

pregnancy chart

Pregnancy Chart of Genetic Screening Recommendations for Various Ethnic and Age Groups

Population At Risk: Abnormality: Screening Test: Definitive Test:
Ashkenazic Jewish, French-Canadians, Cajuns Tay-Sachs disease Decreased Serum hexosaminidase-A Chorionic villi sampling (CVS) or aminocentesisfor hexosaminidase-A assay
African-Hispanic (from the Caribbean, Central America or South America), Arabs, Egyptians, Asian-Indians Sickle cell anemia Presence of sickle cell haemoglobin; confirmatory haemoglobin electrophoresis CVS or amniocentesis for genotype determination, direct molecular studies
Southeast Asians (Vietnamese, Laotian, Cambodian), Filipino Alpha-thalassemia Mean corpuscular volume <80%; confirmatory haemoglobin electrophoresis CVS or amniocentesis for genotype determination (direct molecular studies)
Greek, Italian Beta-thalassemia Mean corpuscular volume <80%; confirmatory haemoglobin electrophoresis CVS or amniocentesis for genotype determination (direct molecular studies or indirect restriction fragment length polymorphism analysis)
Women over age 35 (all ethnic groups) Chromosomal trisomies None CVS or amniocentesis for cryogenic analysis
Women of any age (all ethnic groups; particularly suggested for women from British Isles, Ireland) Neural tube defects and selected other anomalies Maternal serum alpha-fetoprotein (MSAFP) Amniocentesis for amniotic fluid, alpha-fetoprotein, and acetylcholinesterase assays
Ashkenazic Jewish Gaucher disease Decreased glucocerebrosidase CVS
Caucasians (Northern Europeans, Celtic population), Ashkenazic Jewish Cystic Fibrosis Delta F508 amino acid mutation CVS or amniocentesis for genotype; definitive diagnosis for all foetuses not possible.

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