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H V Firth

Publications and source records attributed to H V Firth.

4 recordsLinked to original sources
PubMed1994

Analysis of limb reduction defects in babies exposed to chorionic villus sampling.

In 1991 we reported a cluster of babies with limb abnormalities and suggested that chorionic villus sampling (CVS) was aetiologically associated with these defects. To address the issue more objectively, we have assessed reported limb reduction defects in 75 babies exposed to CVS in utero. 13 babies had an absent limb or a defect through the humerus or femur; 9 had defects through the radius or tibia; 22 defects of the carpus, tarsus, metacarpus, or metatarsus; 25 defects of the digits; and 6 defects of the terminal phalanx or nail only. There was a strong correlation between the severity of the defects and the duration of gestation when CVS was done. The median gestational age at CVS ranged from 56 (range 49-65) postmenstrual days for the most severe category to 72 (51-98) days for the least severe. The relation was seen for both isolated limb defects and for cases with oromandibular-limb hypogenesis syndromes. This relation is further evidence that CVS has an aetiological role in some limb reduction anomalies.

Abnormalities, Multiple↗
PubMed1992

UK clinicians' knowledge of and attitudes to the prenatal diagnosis of single gene disorders.

Postal questionnaires were sent to 308 clinicians in the UK (general practitioners, obstetricians, clinical geneticists, neurologists, paediatricians, and paediatric neurologists) to assess their knowledge of, and attitudes to, the prenatal diagnosis of three common single gene disorders, Huntington's disease (HD), cystic fibrosis (CF), and Duchenne muscular dystrophy (DMD). Replies received numbered 213, a response rate of 69%. Overall, 95% of responding clinicians thought that offering prenatal diagnosis for the three test conditions was often or always appropriate. There was a correlation between the clinicians' estimates of life expectancy and their willingness to offer prenatal diagnosis (p less than 0.01). Among the non-geneticists questioned, fewer than 50% of general practitioners answered correctly regarding the availability of prenatal tests.

Clinical Competence↗
PubMed1991

Severe limb abnormalities after chorion villus sampling at 56-66 days' gestation.

Among 289 pregnancies in which chorion villus sampling (CVS) was carried out at 56-66 days' gestation, 5 babies with severe limb abnormalities were subsequently identified. 4 had oromandibular-limb hypogenesis syndromes, and the other had a terminal transverse limb reduction defect. This high incidence raises the possibility that CVS was an aetiological factor for these developmental anomalies.

Abnormalities, Multiple↗