Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0002895 (sickle cell disease)
 11,747 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We introduced prenatal diagnosis of SCD in Nigeria in order to meet a rising demand. Our approach and experience are documented as a guide to others in countries with similar problems. A cost-recovery fee charged only to sustain the service predictably limited access to it. Ultrasound-guided transcervical (TC) or transabdominal (TA) sampling of 124 chorionic villi was done from nine weeks' gestation. All couples carried the sickle trait (AS) and 52 (51 per cent) women had previously had children with sickle-cell anaemia. 72 samples were obtained by the TA and 52 by the TC route. 7.2 per cent miscarried after CVS but the miscarriage rate was significantly higher (p=0.023) after TC CVS (13.5 per cent) than after TA CVS (2.8 per cent) and also higher in the first 62 (11.3 per cent) than after the last 62 CVS (3.2 per cent). DNA analysis of CVS indicated Hb AA in 29 (23.4 per cent), AS in 67 (54 per cent) and SS in 23 (18.5 per cent). No result was obtainable in five subjects for technical reasons. 96 per cent of the women with SS fetuses terminated the pregnancies. The need for a standby source of electricity where supply is unreliable and for providing an equitable service to all couples at risk are highlighted.
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PMID:Initiation of prenatal diagnosis of sickle-cell disorders in Africa. 1032 32