Screening for neural tube defects. 1994

H S Cuckle
Department of Clinical Medicine, University of Leeds, UK.

The birth prevalence of neural tube defects fell by 95% in England and Wales between 1970 and 1990 largely as a result of antenatal screening, subsequent diagnosis and selective abortion of affected pregnancies. Anencephaly can be diagnosed using ultrasound, whereas both amniotic fluid biochemistry and ultrasound are required for the diagnosis of spina bifida. Both methods have a false-positive rate of about two per 1000 when carried out in high-risk pregnancies. The diagnostic results are likely to be better if the two methods are used in parallel. Maternal serum alpha-fetoprotein screening at 16-18 weeks gestation can detect about 75% of pregnancies affected by spina bifida. Routine ultrasound anomaly screening, usually performed at 18-20 weeks gestation, can detect a similar proportion. New developments indicate that earlier, more accurate detection may be possible but more research will be needed before this can be established.

UI MeSH Term Description Entries
D008403 Mass Screening Organized periodic procedures performed on large groups of people for the purpose of detecting disease. Screening,Mass Screenings,Screening, Mass,Screenings,Screenings, Mass
D009436 Neural Tube Defects Congenital malformations of the central nervous system and adjacent structures related to defective neural tube closure during the first trimester of pregnancy generally occurring between days 18-29 of gestation. Ectodermal and mesodermal malformations (mainly involving the skull and vertebrae) may occur as a result of defects of neural tube closure. (From Joynt, Clinical Neurology, 1992, Ch55, pp31-41) Craniorachischisis,Developmental Defects, Neural Tube,Diastematomyelia,Exencephaly,Neurenteric Cyst,Spinal Cord Myelodysplasia,Tethered Cord Syndrome,Acrania,Developmental Neural Tube Defects,Iniencephaly,Neural Tube Developmental Defects,Neuroenteric Cyst,Occult Spinal Dysraphism,Occult Spinal Dysraphism Sequence,Tethered Spinal Cord Syndrome,Acranias,Craniorachischises,Cyst, Neurenteric,Cyst, Neuroenteric,Cysts, Neurenteric,Cysts, Neuroenteric,Defect, Neural Tube,Defects, Neural Tube,Diastematomyelias,Dysraphism, Occult Spinal,Dysraphisms, Occult Spinal,Exencephalies,Iniencephalies,Myelodysplasia, Spinal Cord,Myelodysplasias, Spinal Cord,Neural Tube Defect,Neurenteric Cysts,Neuroenteric Cysts,Occult Spinal Dysraphisms,Spinal Cord Myelodysplasias,Spinal Dysraphism, Occult,Spinal Dysraphisms, Occult,Tethered Cord Syndromes
D009462 Neurology A medical specialty concerned with the study of the structures, functions, and diseases of the nervous system.
D011247 Pregnancy The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH. Gestation,Pregnancies
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000509 alpha-Fetoproteins The first alpha-globulins to appear in mammalian sera during FETAL DEVELOPMENT and the dominant serum proteins in early embryonic life. alpha-Fetoprotein,alpha Fetoprotein,alpha Fetoproteins
D001671 Biochemistry The study of the composition, chemical structures, and chemical reactions of living things.
D014463 Ultrasonography The visualization of deep structures of the body by recording the reflections or echoes of ultrasonic pulses directed into the tissues. Use of ultrasound for imaging or diagnostic purposes employs frequencies ranging from 1.6 to 10 megahertz. Echography,Echotomography,Echotomography, Computer,Sonography, Medical,Tomography, Ultrasonic,Ultrasonic Diagnosis,Ultrasonic Imaging,Ultrasonographic Imaging,Computer Echotomography,Diagnosis, Ultrasonic,Diagnostic Ultrasound,Ultrasonic Tomography,Ultrasound Imaging,Diagnoses, Ultrasonic,Diagnostic Ultrasounds,Imaging, Ultrasonic,Imaging, Ultrasonographic,Imaging, Ultrasound,Imagings, Ultrasonographic,Imagings, Ultrasound,Medical Sonography,Ultrasonic Diagnoses,Ultrasonographic Imagings,Ultrasound, Diagnostic,Ultrasounds, Diagnostic

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