Prenatal screening and testing for hemoglobinopathy
- Amber M Yates, MD
Amber M Yates, MD
- Assistant Professor of Pediatrics
- Baylor College of Medicine
- Section Editors
- Louise Wilkins-Haug, MD, PhD
Louise Wilkins-Haug, MD, PhD
- Section Editor — Prenatal Diagnosis and Genetics
- Professor of Obstetrics, Gynecology, and Reproductive Biology
- Harvard Medical School
- Donald H Mahoney, Jr, MD
Donald H Mahoney, Jr, MD
- Section Editor — Pediatric Hematology
- Professor of Pediatrics
- Baylor College of Medicine
The hemoglobinopathies can be divided into two general types: the thalassemias (which are disorders of decreased globin chain production) and the hemoglobin structural variants (eg, hemoglobin S, hemoglobin C); a combination of the two is also possible.
The purpose of prenatal hemoglobinopathy screening is to identify and counsel asymptomatic individuals whose offspring are at risk of an inherited hemoglobinopathy. Prenatal diagnosis of fetal hemoglobinopathy is offered when the fetus is at risk of being affected. The purpose is to allow parents to make reproductive choices based on this information and, in the case of alpha-thalassemia major, to monitor the pregnancy for nonimmune hydrops fetalis and potentially intervene. The clinical sequelae of other hemoglobinopathies manifest later in life and have no adverse effects on the fetus, mother, or neonate.
Sickle cell disease and thalassemia are among the most common genetic diseases worldwide. Over 1 percent of couples are at risk for having an affected newborn . (See "Methods for hemoglobin analysis and hemoglobinopathy testing", section on 'Types of abnormalities'.)
United States — The frequency of carrier conditions for hemoglobinopathies is higher in blacks than in whites, but all racial/ethnic populations in the United States have individuals who carry sickle cell trait . Data from state newborn screening programs showed that 1.5 percent of all infants screened in 2010 had sickle cell trait . The incidence of sickle cell trait was 73.1 per 1000 African American infants, 6.9 per 1000 Hispanic infants, 3 per 1000 white infants, and 2.2 per 1000 Asian, Native Hawaiian, or other Pacific Islander infants screened. Approximately 30 percent of African Americans have alpha thalassemia minor .
In the US, the incidence of sickle cell disease has remained relatively stable (SS disease 1 in 3721 newborns, SC disease 1 in 7386 newborns ); however, the prevalence of individuals with hemoglobinopathy, particularly thalassemia, is changing because of the immigration of new ethnic groups, some of whom are carriers of hemoglobinopathies that had been rare in the United States, and the increasing number of pregnancies among couples with different ethnicities in this country [5-7]. This has led to births of infants with hemoglobinopathies that previously had not been seen and from diverse ethnicities.
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- GENE FREQUENCY
- United States
- Global data
- - Thalassemia
- - Hemoglobin S, C, E
- RATIONALE FOR PRECONCEPTIONAL HEMOGLOBINOPATHY COUNSELING, PRENATAL SCREENING, AND PRENATAL DIAGNOSIS
- IDENTIFYING AT-RISK PARENTS
- Candidates for screening
- PRENATAL DIAGNOSIS
- During pregnancy
- Prior to implantation
- GENETIC COUNSELING
- INFORMATION FOR PATIENTS
- SUMMARY AND RECOMMENDATIONS