Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0700208 (scoliosis)
 8,574 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In some medical centers, routine high definition ultrasonic assessment of the fetus has replaced serum alpha fetoprotein (AFP) screening for neural tube defects. This article presents the 1st reported case of prenatal diagnosis of pure structural scoliosis--a condition that, even without other associated structural abnormalities carries a poor prognosis given the lower limb weakness, autonomic nervous system dysfunction, and respiratory problems. In this case, an ultrasound scan was performed at 18 weeks' gestation in a UK clinic in a 27-year-old primigravida. The pregnancy had been uncomplicated, with no history of drug ingestation or viral illness, and the fundal height was consistent with gestational age. The only abnormality revealed was gross fetal spinal scoliosis, almost to an angle of 90 degrees, at the lower thoracic level. The spinal canal and overlying skin appeared intact, with no evidence of a classical neural tube defect in both longitudinal and transverse scanning of the spine. The serum AFP estimation was 51 Ku/L (normal range at 18 weeks, less than 77 Ku/L). This normal serum AFP result was explained by the lack of obvious breach of the meninges. The parents opted for pregnancy termination. The fetus was found to have webbing of the neck and an imperforate anus in addition to vertebral defects.
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PMID:Prenatal ultrasound diagnosis of fetal scoliosis with termination of the pregnancy: case report. 332 Oct 26