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Testing for hematologic disorders and complications.

Lewis P Rubin1, Katrine Hansen

  • 1Department of Pediatrics, Program in Fetal Medicine, Brown Medical School and Women and Infants Hospital of Rhode Island, 101 Dudley Street, Providence, RI 02905-2499, USA. lewis_rubin@brown.edu

Clinics in Laboratory Medicine
|July 10, 2003
PubMed
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This review covers advanced and new methods for diagnosing fetal anemia and hemoglobinopathies before birth. Early detection using laboratory tests and fetal DNA analysis is crucial for managing these conditions.

Area of Science:

  • Maternal-Fetal Medicine
  • Clinical Laboratory Science
  • Genetics

Background:

  • Fetal anemia and hemoglobinopathies pose significant health risks, necessitating accurate antenatal diagnosis.
  • Common causes include hemolytic disease, hemorrhage, infection, and inherited blood disorders like alpha-thalassemia major.
  • Hemoglobinopathies represent the most prevalent single-gene disorders globally.

Purpose of the Study:

  • To review current and emerging techniques for antenatal diagnosis of fetal anemia and hemoglobinopathies.
  • To highlight the essential role of clinical laboratory methods in evaluating these fetal conditions.
  • To discuss the diagnostic utility of established and novel molecular approaches.

Main Methods:

  • Hematologic, biochemical, serologic, cytometric, and molecular genetics assays are employed.

Related Experiment Videos

  • Established methods include the Kleihauer-Betke (KB) test for fetomaternal hemorrhage (FMH), red cell indices for microcytosis, and direct antiglobulin tests for blood group incompatibility.
  • Emerging techniques involve the analysis of cell-free fetal DNA (cfDNA) in maternal plasma.

    • Main Results:

    • Standard laboratory tests remain critical for rapid and sensitive diagnosis of conditions like hemolytic disease of the fetus and newborn (HDFN).
    • Screening for hemoglobinopathies, exemplified by alpha-thalassemia major, is vital.
    • Analysis of cfDNA in maternal plasma shows promise for noninvasive, ultrasensitive detection of fetal hematologic disorders.

    Conclusions:

    • Antenatal diagnosis of fetal anemia and hemoglobinopathies relies on a combination of traditional and advanced laboratory techniques.
    • Early and accurate diagnosis is essential for timely intervention and improved fetal outcomes.
    • Noninvasive methods like cfDNA analysis represent a significant advancement in prenatal screening and diagnosis.