A Survey of Parents' and Carers' Perceptions of Parenting a Child With Developmental Dysplasia of the Hip.

PURPOSE: To explore parents' and carers' perceptions of parenting a child with developmental dysplasia of the hip (DDH). METHODS: A retrospective analysis of a questionnaire of parents and carers of children with hip dysplasia. Data analysis was guided by qualitative content analysis. RESULTS: There were 753 responses describing a range of parenting experiences. Three themes emerged: arduous parenting , detailed the parenting challenges, both practical and emotional posed by the management of DDH; insufficient understanding , described the social disconnection experienced by the respondents due to a lack of empathy from others; inconsistent guidance , encompassed respondents' reliance on health professionals for information and support, yet frustration at variability in the management of DDH. CONCLUSIONS: Overall, having to care for a child with DDH has a negative effect on the practice of parenting. Health professionals can support parenting and provide consistent education to assist parents' understanding of the complex nature of DDH management. What this study adds to the evidence: Despite a good prognosis, the diagnosis of hip dysplasia has a negative effect on of parenting. Parents and carers of children with hip dysplasia rely on the support of health professionals but find the associated loss of parenting autonomy distressing.

Variability in Australian screening guidelines for developmental dysplasia of the hip.

AIM: To assess the variability in Australian screening guidelines for developmental dysplasia of the hip (DDH). METHODS: Ovid MEDLINE®, EMBASE, EMB Reviews-Cochrane, CINAHL, TRIP and grey literature were searched to identify screening guidelines for DDH. Key data items related to recommendations for timing and method of screening were extracted and summarised in a table format for qualitative analysis. RESULTS: Seventeen guidelines met inclusion criteria, comprising nine Australian DDH screening guidelines and eight Child Health Books. The guidelines showed variation in recommendations for the examiner, specific screening methods used for high-risk groups, timing of examinations and recommendations for referral. CONCLUSIONS: Variability exists within Australian DDH screening guidelines. Lack of knowledge regarding local screening guidelines may contribute to the current trend of increased incidence of late diagnosed DDH in Australia, reported in New South Wales, South Australia, and Western Australia. An evidence-based and consistent approach to DDH screening is necessary to minimise late detected cases.

Molecular analysis of the human placental cysteine dioxygenase type 1 gene.

Sulfate is essential for healthy fetal growth and development. Cysteine dioxygenase type 1 (CDO1) plays an important role in the catabolism of cysteine to sulfate. Cdo1 knockout mice exhibit severe and lethal fetal phenotypes but the involvement of CDO1 gene variants in human development is unknown. We searched the NCBI and Ensembl gene databases and identified four alternatively spliced CDO1 coding mRNA transcripts, as well as 148 validated CDO1 gene variants, including 138 missense, 6 nonsense, 1 frameshift, 1 in-frame deletion, and 2 splice site variants. In silico analyses predicted 68 of the missense variants to be deleterious to CDO1 protein structure and function. We examined the relative abundance of the four CDO1 coding mRNA transcripts in human term placentas using qRT-PCR. CDO1 mRNA variant 2 was the most abundant transcript, with intermediate levels of variant 4 and lower levels of variants 1 and 3. Using in situ hybridization, we localised CDO1 mRNA expression to the syncytiotrophoblast layer of human term placenta. To investigate the regulation of CDO1 gene expression, we analysed the transcriptional activity of the human CDO1 5'-flanking region in the JEG-3 placental cell line using luciferase reporter assays. Transcriptional activities were identified in the regions -5 to -269 and - 269 to -1200 nucleotides upstream of the CDO1 transcription initiation site. Mutational analyses of a single nucleotide polymorphism -289C > G that is common in the general population (allele frequency = 0.37) and a putative transcription factor binding motif (CCAAT enhancer binding protein beta) did not alter transcriptional activity of the CDO1 5'-flanking region. Collectively, this study provides an overview and analysis of human CDO1 for future investigations of this gene in human health.

The association between a low cerebro-umbilical ratio at 30-34 weeks gestation, increased intrapartum operative intervention and adverse perinatal outcomes.

INTRODUCTION: The aim of this study was to investigate the relationship between the cerebro-umbilical ratio (CUR), measured at 30-34 weeks, and adverse intrapartum and perinatal outcomes. METHODS: This was a retrospective cross-sectional cohort study of women delivering at the Mater Mothers' Hospital in Brisbane, Australia. Fetal Doppler indices for 1224 singleton pregnancies were correlated with maternal demographics and intrapartum and perinatal outcomes. Only women who attempted vaginal delivery were included in the study. RESULTS: Infants delivered by emergency cesarean section for fetal compromise had the lowest median CUR, 1.65 (IQR 1.17-2.12), compared to any other delivery group. The proportion of infants with a CUR ≤1 who required emergency cesarean section for fetal compromise was 33.3% compared to 9.3% of infants with a CUR >1 (adjusted OR 6.92 (95% CI 2.04-25.75), p<0.001). However, the detection rate of CUR ≤1 as a predictor for emergency cesarean delivery for fetal compromise was poor (18.9%). Detection rates increased in cohorts of infants born within two weeks of the scan or with birth weights <10th centile or <5th centile. Additionally, a CUR ≤1 was associated with lower median birth weight, higher rates of admission to the neonatal critical care unit and increased neonatal mortality. DISCUSSION: This study suggests that a CUR ≤1, measured at 30-34 weeks, is associated with a greater risk of emergency cesarean delivery for fetal compromise and a number of other adverse perinatal outcomes. The association was strongest in low birth weight babies.