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Purpose: Medications are commonly used during pregnancy to manage pre‐existing conditions and conditions that arise during pregnancy. However, not all medications are safe to use in pregnancy. This study utilized privacy‐preserving record linkage (PPRL) to examine medications dispensed under the national Pharmaceutical Benefits Scheme (PBS) to pregnant women in Western Australia (WA) overall and by medication safety category. Methods: In this retrospective, cross‐sectional, population‐based study, state perinatal records (Midwives Notification Scheme) were linked with national PBS dispensing data using PPRL. Live and stillborn neonates born between 2012 and 2019 in WA were included. The proportion of pregnancies during which the mother was dispensed a PBS medication was calculated, overall and by medication safety category. Factors associated with PBS medication dispensing were examined using logistic regression. Results: PPRL linkage identified matching records for 97.4% of women with perinatal records. A total of 271 739 pregnancies were identified, with 158 585 (58.4%) pregnancies involving the dispensing of at least one PBS medication. Category A medications (those considered safe in pregnancy) were the most commonly dispensed (n = 119 126, 43.8%) followed by B3 (n = 51 135, 18.8%) and B1 (n = 42 388, 15.6%) medication (those with unknown safety). Over the study period, the dispensing of PBS medications in pregnancy increased (OR: 1.06, 95%CI: 1.06, 1.07). The strongest predictor of medication dispensing in pregnancy was pre‐pregnancy dispensing (OR: 3.61, 95%CI: 3.54, 3.68). Other factors associated with medication use in pregnancy were smoking, older maternal age, obesity, and prior pregnancies. Conclusion: Privacy preserving record linkage provides a way to link cross‐jurisdictional data while preserving patient confidentiality and data security. The dispensing of PBS medication in pregnancy was common and increased over time, with approximately 60% of women dispensed at least one medication during pregnancy. [ABSTRACT FROM AUTHOR]

A case of a missense RBM10 variant in an adult with mild to moderate intellectual disability. Now, with two reported cases, distinct phenotypic traits unique to I RBM10 i missense variants, in addition to intellectual disability, remain to be clarified. [Extracted from the article]

Silver‐Russell syndrome (SRS OMIM 180860) is a rare, albeit well‐recognized disorder characterized by severe intrauterine and postnatal growth retardation. It remains a clinical diagnosis with a molecular cause identifiable in approximately 60%–70% of patients. We report a 4‐year‐old Australian Aboriginal girl who was born at 32 weeks gestation with features strongly suggestive of SRS, after extensive investigation she was referred to our undiagnosed disease program (UDP). Genomic sequencing was performed which identified a heterozygous splice site variant in IGF2 which is predicted to be pathogenic by in‐silico studies, paternal allelic origin, de novo status, and RNA studies on fibroblasts. We compare clinical findings with reported patients to add to the knowledge base on IGF2 variants and to promote the engagement of other Australian Aboriginal families in genomic medicine. [ABSTRACT FROM AUTHOR]

Autosomal recessive congenital ichthyosis is a genetically and phenotypically heterogenous group of scaling skin disorders. We describe a patient with ARCI caused by homozygous variants in NIPAL4, in whom the dermatologic phenotype and an associated arthropathy, markedly improved with ustekinumab. [ABSTRACT FROM AUTHOR]