Elevated msAFP but Normal Fetal Anatomy: What Now?

A breakthrough discovery in the 1970s was the determination of alpha-fetoprotein levels in the serum of pregnant women to detect fetuses with neural tube defects. In the case of high AFP values in maternal serum, amniocentesis was performed to determine the levels of AFP and acetylcholinesterase (AChE) in the amniotic fluid to confirm the diagnosis. Currently, the ACOG states that high-quality, second-trimester fetal anatomy ultrasonography is an appropriate screening test for NTDs where routinely performed for fetal anatomic survey at 18 to 22 weeks. If optimal images of the fetal spine, intracranial anatomy, or anterior abdominal wall are not obtained (eg, fetal position or maternal obesity), MSAFP should be performed to improve detection of NTDs (ACOG Practice Bulletin No. 187: Neural Tube Defects. Committee on Practice Bulletins Obstet Gynecol. 2017). Some clinicians (as we do in our practice) order both fetal anatomy ultrasound and msAFP concurrently. What are the implications when the msAFP is elevated with a normal fetal anatomical survey? Where is this msAFP coming from? Listen in for details.

1. ACOG Practice Bulletin No. 187: Neural Tube Defects. Committee on Practice Bulletins Obstet Gynecol. 2017

2. Pregnancy Outcomes Regarding Maternal Serum AFP Value in Second Trimester Screening. Bartkute K, Balsyte D, Wisser J, Kurmanavicius J. Journal of Perinatal Medicine. 2017;45(7):817-820. doi:10.1515/jpm-2016-0101.

3. Głowska-Ciemny J, Szmyt K, Kuszerska A, Rzepka R, von Kaisenberg C, Kocyłowski R. Fetal and Placental Causes of Elevated Serum Alpha-Fetoprotein Levels in Pregnant Women. J Clin Med. 2024 Jan 14;13(2):466. doi: 10.3390/jcm13020466. PMID: 38256600; PMCID: PMC10816536.

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