Biomedical subjects
Publications and source records attributed to L S Chitty.
Two sibs, diagnosed prenatally, had holoprosencephaly, midface hypoplasia, and normal chromosomes. The first fetus also had polydactyly. This sibship may represent an example of autosomal recessive pseudotrisomy 13.
We report two siblings with bowed tibia, hypoplastic thumbs, multiple fractures, a distinctive facial phenotype and developmental delay. These children share some features with other cases reported in the literature but we consider that they represent a new syndrome.
OBJECTIVE: To review the efficacy of routine prenatal ultrasonography for detecting fetal structural abnormalities. DESIGN: Retrospective study of the ultrasonographic findings and outcome of all pregnancies in women scanned in 1988-9. SETTING: Maternity ultrasonography department of a district general hospital. SUBJECTS: 8785 fetuses. MAIN OUTCOME MEASURES: Correlation of prenatal ultrasonographic findings with outcome in the neonate. RESULTS: 8733 babies were born during 1988-9, and 52 pregnancies were terminated after a fetal malformation was identified. 8432 (95%) of the fetuses were examined by ultrasonography in the second trimester. 130 fetuses (1.5%) were found to have an abnormality at birth or after termination of pregnancy, 125 of which had been examined in the second trimester. In 93 cases the abnormality was detected before 24 weeks (sensitivity 74.4%, 95% confidence interval to 66.7% to 82.1%. Two false positive diagnoses occurred, in both cases the pregnancies were not terminated and apparently normal infants were born. This gives a specificity of 99.98% (99.9% to 99.99%). The positive predictive value of ultrasonography in the second trimester was 97.9% (92.6% to 99.7%). Of the 125 abnormalities, 87 were lethal or severely disabling; 72 of the 87 were detected by the routine screening programme (sensitivity 82.8%, 73.2% to 90.0%). CONCLUSION: Routine fetal examination by ultrasonography in a low risk population detects many fetal structural abnormalities but can present several dilemmas in counselling.
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We report five cases of enlarged, hyperechogenic kidneys detected prenatally where the liquor volume was normal or increased. The etiology was different in all cases and included infantile and adult polycystic kidney disease, Perlman syndrome, trisomy 13 and cystic dysplasia. The differential diagnosis of such findings is discussed and other cases reported in the literature are reviewed.
We have analysed the cause of perinatal deaths in four hospitals in the North West Thames region over a six year period commencing January 1980. The Pakistani population had a significantly greater perinatal mortality rate (15.7/1000 births) than the Europeans (11.3/1000 births). This was due to an increased incidence of macerated stillbirths and lethal malformations, the latter resulting from a significantly higher incidence of autosomal recessive disorders, neural tube defects, and renal malformations.