The role of ultrasonography and amniocentesis in the evaluation of pregnancies at risk for neural tube defects

Article Abstract:

Neural tube defects in infants are caused by the failure of the neural tube, which is supposed to enclose the nerves in the base of the brain and spinal cord, to close during growth in the uterus. High levels of alpha-fetoprotein, a protein normally produced during pregnancy, in the blood of the mother indicates the need for further evaluation of the fetus. Ultrasonography, the use of high frequency sound to visualize internal structures, can be used to detect neural tube defects in the fetus. Amniocentesis, a method of sampling the fluid surrounding the fetus, can confirm abnormalities in the neural tube but is not without risk. High levels of alpha fetoprotein in the amniotic fluid, which surrounds the fetus, occur in 5 to 10 percent of the patients. A more detailed form of ultrasonography, high resolution ultrasound, is recommended in these patients. Amniocentesis and high resolution (targeted) ultrasonography were compared for diagnostic efficacy. An evaluation was performed on 225 patients suspected of having neural tube defects on the basis of either high levels of alpha fetoprotein or a family history of neural tube defects. Targeted ultrasonography detected all 26 fetal neural tube defects. Of the 167 patients undergoing amniocentesis, seven had high levels of alpha fetoprotein in the fetal fluid and one diagnosis of a congenital defect was made. Detailed ultrasonography offers better diagnostic results when examining for neural tube defects.

Evaluation, Abnormalities, Fetus, Neural tube, Neural tube defects, Diagnosis, Ultrasonic, Diagnostic ultrasonography, Prenatal ultrasonography

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Diagnosis and management of prenatally detected myelomeningocele: a preliminary report

Article Abstract:

To add to the medical knowledge concerning treatment of myelomeningocele (a congenital condition in which part of the spinal cord and the membranes covering it bulge through an incompletely closed vertebral column), experience with 23 cases is presented. The disorder was diagnosed at an average gestational age of just under 24 weeks, and 14 women elected to continue their pregnancies. Of these fetuses, two developed ventriculomegaly (enlargement of the brain ventricles, through which fluid circulates) and were delivered early. Two infants died from complications related to breathing impairment. The frequent complications associated with myelomeningocele necessitate treatment by a coordinated team, and families with such a child need counseling during the first few years of life. With appropriate management, this diagnosis can be associated with a favorable outcome. The discussion reveals that most children with this defect are ultimately able to function independently, with few suffering from mental retardation. (Consumer Summary produced by Reliance Medical Information, Inc.)

Care and treatment, Prognosis, Myelomeningocele, Meningomyelocele

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Elevated maternal serum alpha-fetoprotein levels: what is the risk of fetal aneuploidy?

Article Abstract:

Amniocentesis in follow up to elevated maternal blood levels of alpha-fetoprotein (AFP) does not seem worth the expense or the risks when modern ultrasound imaging techniques are available. Elevated AFP values may indicate a neural tube defect. Diagnosis has traditionally been established by analyzing amniotic fluid samples, and following up with chromosome analysis. A group of 658 pregnant women with elevated AFP values had targeted ultrasound examinations. Of these, 571 fetuses were normal. Chromosome analysis was performed on 435 of these fetuses. Two had genetic mutations, neither of which was related to elevated AFP. A review of the literature revealed that 99.6% of neural tube defects could be identified by ultrasound alone.

Planning, Chromosome abnormalities

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