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A healthy 28-year-old white woman presented forprenatal care at 25 weeks' gestation.
Abdominal ultrasound examination showed dilated loops of fetal bowel and increased
echogenicity throughout the fetal abdomen, with intra-abdominal calcifications. These
findings were interpreted as showing the presence of a small bowel obstruction and
were consistent with cystic fibrosis. Samples of both parents' blood were sent for
genetic analysis, and each revealed deletions of three base pairs on chromosome 7q31.
Chorionic villus biopsy was performed, and the fetal DNA exhibited the same mutation.
The diagnosis of cystic fibrosis was confirmed prenatally.
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Annotated bibliography
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- An example of the ability to diagnose cancer by theidentification of ras oncogene point mutations in PCR-amplified clinical specimens.
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© 1992 Reed Publishing USA. Published by Elsevier Inc.
