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Journal of Applied Genetics 47(2), 2006, pp. 151-158

The impact of prenatal diagnosis on neural tube defect (NTD) pregnancy versus birth incidence in British Columbia

Margot I. Van Allen, Erin Boyle, Paul Thiessen, Deborah McFadden, Douglas Cochrane, G. Keith Chambers, Sylvie Langlois, Patricia Stathers, Beverly Irwin, Elizabeth Cairns, Patrick MacLeod, Marie-France Delisle, Soo-Hong Uh

Abstract: The birth incidence of neural tube defect (NTD) cases in British Columbia (B.C.), and elsewhere in North America, is reported to be declining. This decline is being attributed to folic acid (FA) supplementation and food fortification, but 2nd trimester prenatal screening of pregnancies for NTDs and other congenital anomalies has increased during this timeframe, as well. This descriptive, population-based study evaluates the impact of prenatal screening of NTD-affected pregnancies on (1) pregnancy outcome and (2) reporting of NTD births to the provincial Health Status Registry (B.C.H.S.R.); and it assesses (3) the use of periconceptional FA supplementation. NTD cases were ascertained from medical records of health centres providing care to families with NTD-affected pregnancies and newborns; and from NTD cases reported to the B.C.H.S.R. In 1997-1999, the B.C.H.S.R. published a NTD incidence of 0.77/1000. In this study, 151 NTD-affected pregnancies were identified, with an incidence of 1.16/1000. Partial Reporting of induced abortions in a NTD incidence 45.5% low than the actual incidence. Medical records were available for review on 144/151 pregnancies. Prenatal screening identified 86.1% (124/144) of NTD-affected pregnancies, with 72.6% (90/124) resulting in pregnancy termination, and 27.4% (34/124) continuing to term. Use of FA supplementation in the periconceptional period was recorded in 36.4% of pregnancies (39/107). Thus in B.C. the decline in the NTD incidence is due predominantly to pregnancy terminations following prenatal diagnosis, which reduces the NTD incidence by 60%, from 1.16/1000 to 0.47/1000. Continued efforts for primary and the option of secondary prevention of NTDs are recommended in order to improve newborn health in B.C. and elsewhere. These interventions need to be monitored, however, for optimal health care planning.

Key words: anencephaly, B.C. Health Status Registry, birth defects registry, folic acid, incidence of NTDs, neural tube defects, NTD pregnancy outcome, prenatal diagnosis of NTDs, prevention of NTDs, spina bifida.

Correspondence: M.I. Van Allen, Department of Medical Genetics, University of British Columbia, C234-4500 Oak Street, Vancouver, B.C., Canada V6H 3N1, USA; e-mail:

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