Prevalence of neural tube defects in South Australia, 1966-91: effectiveness and impact of prenatal diagnosis

Abstract

Objective: To determine trends in total prevalence of neural tube defects in South Australia during 1966-91, the impact of prenatal diagnosis on birth prevalence, and the effectiveness of prenatal screening for neural tube defects in 1986-91.

Design: All births and terminations of pregnancy affected by neural tube defects and information on prenatal screening were ascertained from multiple sources including the South Australian perinatal and abortion statistics collections, birth defects register, and state maternal serum alpha fetoprotein screening programme.

Setting: Southern Australia.

Subjects: All 1058 births and terminations of pregnancy affected by neural tube defects in 1966-91.

Main outcome measures: Total prevalence and birth prevalence of individual and all neural tube defects. The proportion of screened cases detected prenatally.

Results: Total prevalence of neural tube defects during 1966-91 was 2.01/1000 births with no upward or downward trend. However, birth prevalence fell significantly (by 5.1% a year), with an 84% reduction from 2.29/1000 births in 1966 to 0.35/1000 in 1991 (relative risk = 0.16, 95% confidence interval 0.07 to 0.34). The fall was 96% for anencephaly and 82% for spina bifida. 85% of defects, both open and closed, were detected before 28 weeks' gestation in women screened by serum alpha fetoprotein or mid-trimester ultrasonography, or both, in 1986-91 (99.0% for anencephaly and 75.7% for spina bifida).

Conclusions: While the total prevalence of neural tube defects in South Australia remained stable, prenatal diagnosis and termination of pregnancy resulted in an 84% fall in birth prevalence during 1966-91. Screening detected over four fifths of cases in 1986-91.

PIP: The authors sought to determine trends in total prevalence of neural tube defects in South Australia during the period 1966 through 1991, the impact of prenatal diagnosis on birth prevalence, and the effectiveness of prenatal screening for neural tube defects during the period 1986 through 1991. The authors studied 1058 births and terminations of pregnancy affected by neural tube defects during 1966-1991. Data on births and terminations and information on prenatal screening came from the South Australian perinatal and abortion statistics collections, birth defects registers, and the state maternal serum alpha fetoprotein screening program. Main outcome measures of the study were total prevalence and birth prevalence of individual and all neural tube defects and the proportion of screened cases detected prenatally. Total prevalence of neural tube defects during the period 1066-1991 was 2.01/1000 births with no upward or downward trend. However, birth prevalence fell significantly (by 5.1% a year) with an 84% reduction from 2.29/1000 births in 1966 to 0.35/1000 in 1991 (relative risk = 0.16, 95% confidence interval 0.07-0.34). The fall was 96% for anencephaly and 82% for spina bifida. 85% of defects, both open and closed, were detected before 28 weeks gestation in women screened by serum alpha fetoprotein or midtrimester ultrasonography, or both, in 1986-1991 (99.0% for anencephaly and 75.7% for spina bifida). While the total prevalence of neural tube defects in South Australia remained stable, the prenatal diagnosis and termination of pregnancy resulted in an 84% fail in birth prevalence during 1966-1991. Screening detected over four-fifths of the cases during 1986-1991.