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Biomedical subjects

L Chitty

Publications and source records attributed to L Chitty.

17 recordsLinked to original sources
PubMed2001

Dysplastic and polycystic kidneys: diagnosis, associations and management.

Cystic and bright kidneys can pose a significant diagnostic dilemma when discovered as an incidental finding at the time of a routine fetal ultrasound scan. There are diverse aetiologies with equally variable implications for the prognosis in the affected fetus, and for future pregnancies. Accurate antenatal diagnosis in the absence of any positive family history is often not possible and a team approach to management (to include the fetal medicine specialist, paediatric nephrologist or urologist, geneticists and in some cases, pathologist) is essential. In this review we will attempt to describe the embryology and aetiology of these conditions and suggest an approach to management.

Adult↗
PubMed2000

Ultrasound markers of fetal chromosomal abnormality: a survey of policies and practices in UK maternity ultrasound departments.

OBJECTIVE: To evaluate the management of pregnancies where the fetus was found to have one or more sonographic markers of possible fetal chromosomal abnormality. DESIGN: Prospective anonymous postal survey of UK obstetric ultrasound units. MAIN OUTCOME MEASURES: The management of pregnancies where the fetus is found to have a sonographic marker of aneuploidy. POPULATION: All 252 maternity ultrasound units in the United Kingdom. METHODS: Postal questionnaire to the superintendent sonographer in routine maternal ultrasound departments. RESULTS: Questionnaires were returned from 179 maternity units (71%). Of the respondents 94% offered a fetal anomaly scan at 16-20 weeks' gestation and 59% performed a dating scan at 10-14 weeks. Screening for Down syndrome was available in 99% of all maternity units. The recognition of sonographic 'soft signs' for possible fetal chromosomal abnormality varied considerably between the units. When sonographers were asked about their unit's policy regarding offering amniocentesis to women with sonographic markers, 8-78% discussed amniocentesis when the marker was isolated and 53-88% when another abnormality was found. Eighty nine percent of units documented the abnormal ultrasound findings in the hospital notes and 88% of the women were informed of the findings regardless of the intention to offer amniocentesis. CONCLUSION: The practice of routine ultrasound examination is well established in UK, though precise policies vary. The existing wide variations in management policies possibly reflect a lack of data derived from low risk populations. There is a need to collect such data from low risk populations with known screening practices so that national guidelines to standardize practice can be formulated.

Amniocentesis↗
PubMed2000

Prenatal diagnosis of fetal abnormality: psychological effects on women in low-risk pregnancies.

When given an adverse prenatal diagnosis, parents are deeply shocked and experience acute grief. This review considers the psychological outcomes for parents whether they opt to terminate the pregnancy or continue, either through choice or because termination is not an option. It covers the full spectrum of malformation from treatable, through those carrying a risk of significant handicap, to lethal. It draws on two types of studies: those that are retrospective and qualitative, describing feelings and aspects of care, and those that are prospective and assess psychological state with standardized measures of grief, anxiety and depression. The relationship between psychological outcome and possible associated variables, such as individual characteristics, nature of the abnormality and obstetric factors is described and evaluated. In addition, the authors draw on both scientific and support group literature to summarize good practice for the care of parents receiving an unexpected diagnosis of fetal abnormality.

Abortion, Eugenic↗
PubMed1999

Popliteal pterygium syndrome: a clinical study of three families and report of linkage to the Van der Woude syndrome locus on 1q32.

Popliteal pterygium syndrome (PPS) is a rare autosomal dominant disorder, thought to occur with an incidence of approximately 1 in 300 000 live births. The main clinical manifestations are popliteal webbing, cleft lip, cleft palate, lower lip pits, syndactyly, and genital and nail anomalies. This report describes the clinical features in two families with PPS and one isolated case, showing the range of anomalies found both within and between the families. PPS has some features in common with Van der Woude syndrome (VWS), also inherited as an autosomal dominant condition, with cleft lip/palate and, more distinctively, lower lip pits. Although the gene for VWS has not yet been identified, it has been localised to within 1.6 cM in the region 1q32-41. To determine whether PPS and VWS represent allelic forms of the same gene, three families were genotyped for markers flanking and within the critical region. A multipoint lod score of 2.7 was obtained, with no evidence of recombination, supporting the hypothesis that these two disorders are allelic.

Abnormalities, Multiple↗
PubMed1998

Prenatal screening for chromosome abnormalities.

An abnormal chromosome complement (aneuploidy) contributes significantly to fetal loss during pregnancy, as well as to perinatal morbidity and mortality. The contribution of chromosomal abnormalities to fetal loss decreases as pregnancy continues with an estimated 50% of first trimester spontaneous abortions due to chromosomal abnormalities, but only 5% of stillbirths (after 28 weeks). Prenatal screening for aneuploidy (in particular Down syndrome) can be undertaken using maternal serum biochemistry, fetal ultrasound or a combination of both. In this chapter the advantages and disadvantages of screening programmes currently in use, or undergoing evaluation, will be reviewed.

Biomarkers↗
PubMed1991

Pitfalls in counselling: the craniosynostoses.

We describe three families to highlight the variability of expression and penetrance that can occur in the craniosynostoses. In two of the families, gene carriers were only identified in retrospect by looking at photographs of other family members. In the third family, identical twins were initially thought to be discordant for sagittal craniosynostosis until early skull x rays were examined and both were found to be affected. The dilemmas faced when counselling these families are discussed.

Adult↗
PubMed1990

A case of atelosteogenesis.

Atelosteogenesis is a rare chondrodysplasia characterised by rhizomelic short limbed dwarfism, thoracic hypoplasia, multiple joint dislocations, talipes equinovarus, and early death. The diagnosis is confirmed radiologically: short, distally tapering humeri, absent or hypoplastic fibulae, deficient vertebral ossification with coronal clefting, and anarchic ossification of phalanges are characteristic findings. We report a male child with this condition born to first cousin Bengali parents.

Adult↗