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Importance of accurate diagnosis in counseling for neural tube defects diagnosed prenatally
Author(s) -
Steinhaus Kathryn A.,
Bernstein Renée,
Bocian Maureen E.
Publication year - 1991
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1991.tb03042.x
Subject(s) - amniocentesis , fetus , neural tube , prenatal diagnosis , neural tube defect , medicine , obstetrics , amniotic fluid , pregnancy , etiology , spina bifida , pediatrics , pathology , biology , embryo , genetics , microbiology and biotechnology
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/acetyl‐cholinesterase (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.