Chorionic Villous Testing Versus Amniocentesis After Abnormal Noninvasive Prenatal Testing.

In the setting of a normal first-trimester ultrasound, an amniocentesis may be a better option than chorionic villous sampling for invasive diagnostic testing after a cell-free DNA high risk for trisomy 13, given the high rates of confined placental mosaicism. In unaffected fetuses, other evaluations should be considered depending on the cell-free DNA results, including maternal karyotyping for monosomy X, uniparental disomy testing for chromosomes with imprinted genes, serial growth scans for trisomy 16, and a workup for maternal malignancy for multiple aneuploidies or autosomal monosomy.

Congenital myotonic dystrophy: An overlooked diagnosis not amenable to detection by sequencing.

OBJECTIVE: To increase the clinical awareness of the need for genetic evaluation for congenital myotonic dystrophy (CDM1) in cases of fetal akinesia sequence and idiopathic polyhydramnios. METHODS: Retrospective case review. RESULTS: A 27 y.o. G1P0 with no significant family history presented for ultrasound at 25 weeks gestation. Notable findings included lack of extension of the fetal arms and legs with bilateral talipes consistent with fetal akinesia sequence. Polyhydramnios with an amniotic fluid index of 32.2 cm was also present. Amniotic fluid obtained by amniocentesis was sent for chromosomal microarray and a next generation sequencing fetal akinesia panel which both returned normal. The patient underwent serial amnioreductions for recurrent severe polyhydramnios with removal of a total of 9.3 L. Further amniotic fluid testing for CDM1 identified >200 repeats in one copy of the fetal DMPK gene, consistent with a diagnosis of CDM1. The patient was delivered at 35 weeks gestation and neonatal demise occurred on the second day of life. CONCLUSION: Congenital myotonic dystrophy should be a consideration for cases of severe polyhydramnios identified by ultrasound. Myotonic dystrophy is detected using PCR and southern blot and is not typically included on next generation sequencing (NGS) panels that test for similar conditions. Clinicians should consider more specialized genetic testing than microarray and NGS in these cases.

Describing the learning curve of novices for the diagnosis of paediatric distal forearm fractures using point-of-care ultrasound.

Purpose: The learning curve of nurse practitioners (NPs) to accurately diagnose paediatric distal forearm fractures using point-of-care ultrasound (POCUS) was investigated. Methods: Each NP's learning curve was calculated as cumulative diagnostic accuracy against a number of scans performed. The curve's plateau represented the attainment of competency. Secondary outcomes were the comparisons before and after this cut-off of diagnostic accuracy, classification of diagnostic errors, pain scores, duration and preference. Results: Five NPs performed 201 POCUS studies with diagnostic accuracy plateauing at 90%, providing a 'cut-off' point at scan 15. Accuracy of POCUS scanning before and after the fifteenth scan was 81% (95% CI 70%-89%) and 90% (95% CI 84%-94%), respectively, demonstrating 9% improvement (P = 0.07). There was a 10% reduction in image interpretation errors. After fifteen scans, POCUS became faster (mean difference (MD) 2.6 min [95% CI 2.0-3.3], P < 0.001), less painful (MD 0.61 points FPSR scale [95% CI 0.04-1.18], P = 0.04) and more preferred by NPs (63% vs 77%, P = 0.03). Discussion: The learning curve of POCUS-novice NPs independently scanning paediatric distal forearm injuries plateaued with mean diagnostic accuracy of 90% after 15 scans, suggesting competency was attained at this cut-off, supported by higher accuracy, being faster, less painful and more preferred by NPs. Future training packages in forearm POCUS should further address image interpretation and provide ongoing expert feedback. Conclusions: The findings from this study suggest that competency in paediatric distal forearm POCUS can be attained by novices after a short training course and approximately 15 scans.

Call for more community nurse services.

Children stay in hospital for longer than is necessary or are cared for by their parents at home without adequate support because of the shortage of paediatric community nursing services around the country, according to the Chief Nursing Officer for Wales.

Parents not fully involved in care of children in hospital.

Parental participation in the care of sick children in hospital is often limited to basic 'mothering work', with parents often unsure as to what is expected of them, delegates at the recent paediatric nursing conference heard.