Importance of accurate diagnosis in counseling for neural tube defects diagnosed prenatally.
In cases of fetal neural tube defects (NTD), termination of pregnancy without ascertainment of specific etiology may lead to provision of incorrect recurrence risks and erroneous diagnosis in future pregnancies. Four patients are presented who illustrate the etiologic diversity of neural tube defects. The patients were referred for prenatal diagnosis because of elevated maternal serum alphafetoprotein (AFP). All four chose pregnancy termination. Diagnostic methods included fetal ultrasound, amniocentesis for fetal karyotyping and amniotic fluid AFP/acetylcholinesterase (AChE) and/or fetal karyotyping after delivery, and dysmorphology evaluation of the fetus after intact delivery. These cases highlight the benefits of fetal karyotype analysis and of an intact delivery and thorough clinical examination of the fetus when patients choose to terminate pregnancies with fetal anomalies.
Steinhaus
K A
KA
Department of Pediatrics, University of California, Irvine.
Bernstein
R
R
Bocian
M E
ME
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D000328:Adult; D000649:Amniocentesis; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D007621:Karyotyping; D009436:Neural Tube Defects / Q000175:diagnosis* / Q000235:genetics; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012307:Risk Factors; D016216:Ultrasonography, Prenatal; D000509:alpha-Fetoproteins / Q000032:analysis
D000509:alpha-Fetoproteins