Prenatal screening for neural tube defects: from maternal serum alpha-fetoprotein to ultrasonography
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The two main screening tests during pregnancy are those for chromosomal abnormalities and neural tube defects(NTDs). In particular, for NTDs, measurement of maternal serum alpha-fetoprotein (MSAFP) levels early in the secondtrimester (15-18 weeks of gestation) has been considered the gold standard screening test for the past 4 decades. However, with remarkable technological advancements and the widespread use of ultrasound during those periods,mid-trimester ultrasonography has gradually replaced the role of measuring MSAFP levels as a screening method forNTDs. This change was initiated more about 10 years ago in some countries, which have issued national guidelinesto use mid-trimester ultrasonography instead of measuring MSAFP levels as a prenatal screening method for NTDs. However, no significant changes have occurred in Korea, where second-trimester ultrasonography is routinelyperformed with high-quality equipment. We aimed to provide information regarding the importance of changing thescreening method for NTDs from MSAFP measurement to ultrasonography, and to detail methods of implementingmid-trimester ultrasonography for screening purposes. We also share our experience of operating a prenataldiagnostic program for NTDs without using MSAFP for more than 15 years.
Abstract
The two main screening tests during pregnancy are those for chromosomal abnormalities and neural tube defects(NTDs). In particular, for NTDs, measurement of maternal serum alpha-fetoprotein (MSAFP) levels early in the secondtrimester (15-18 weeks of gestation) has been considered the gold standard screening test for the past 4 decades. However, with remarkable technological advancements and the widespread use of ultrasound during those periods,mid-trimester ultrasonography has gradually replaced the role of measuring MSAFP levels as a screening method forNTDs. This change was initiated more about 10 years ago in some countries, which have issued national guidelinesto use mid-trimester ultrasonography instead of measuring MSAFP levels as a prenatal screening method for NTDs. However, no significant changes have occurred in Korea, where second-trimester ultrasonography is routinelyperformed with high-quality equipment. We aimed to provide information regarding the importance of changing thescreening method for NTDs from MSAFP measurement to ultrasonography, and to detail methods of implementingmid-trimester ultrasonography for screening purposes. We also share our experience of operating a prenataldiagnostic program for NTDs without using MSAFP for more than 15 years.
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