The Prenatal Diagnosis of Neural Tube and Other Congenital Defects

  • Aubrey Milunsky


Neural tube defects (NTDs) are among the most common major congenital malformations in most countries. Striking variations in incidence have been known for years, with extremely high rates exceeding 8 per 1000 births having been reported from widely scattered regions, such as Northern Ireland, Alexandria, Egypt, and the Punjab in India (Elwood and Elwood, 1980; Verma, 1978; Stevenson et al., 1966). In the United States past estimates of the incidence rate for NTDs have varied between 1.4 and 3.1 per 1000 births (Nakano, 1973). More recently, incidence rates for NTDs have ranged between 1.0 and 1.6 per 1000 births, and for spina bifida (SB) between 0.2 and 0.8 per 1000 births, with the highest rates being found in southern Appalachia (Sever et al., 1982; Windham and Edmonds, 1982; Martin et al., 1983; Greenberg et al., 1983; Jorde et al., 1984). While large geographic and temporal variations in the frequency of NTDs are well known, a marked decrease in the prevalence of NTDs has been observed, especially in the United Kingdom. Between 1965 and 1981, the notified prevalence of these defects in England and Wales decreased from 4.7 per 1000 to 1.9 per 1000 births (Wald and Cuckle, 1984).


Down Syndrome Amniotic Fluid Neural Tube Prenatal Diagnosis Spina Bifida 
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Copyright information

© Aubrey Milunsky 1986

Authors and Affiliations

  • Aubrey Milunsky
    • 1
  1. 1.Departments of Pediatrics, Obstetrics-Gynecology, and Pathology, Center for Human GeneticsBoston University School of MedicineBostonUSA

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