First-time mothers’ experiences of pregnancy and birth following assisted reproductive technology treatment in Taiwan

Background Assisted Reproductive Technology (ART) treatment tends to involve significant physical and emotional commitments that can impact maternal, infant and family health and well-being. An in-depth understanding of experiences is necessary to provide adequate support for women and their families during pregnancy and transition to parenthood following ART treatment. The aim of this study was to explore first-time mothers’ experiences of pregnancy and transition to parenthood following successful ART treatment in Taiwan. Method Twelve first-time mothers who conceived and gave live birth using ART treatment were purposively selected from a fertility centre in Taipei, Taiwan. Women’s experiences in pregnancy and in their transition to motherhood were explored using semi-structured in-depth interviews. All interviews were recorded, transcribed, and analysed using the Colaizzi strategy. Results The mothers’ accounts reflected three main themes: ‘being different from mothers who became pregnant naturally’; ‘ensuring health and safety of the foetus’; and ‘welcoming new lives with excitement’. The difference mothers felt about themselves was evident in four subthemes: becoming pregnant after a long wait, feeling vulnerable during pregnancy, relying on family’s assistance and support, and worrying about the impact of ART on health. The theme on ‘ensuring health and safety of the foetus’ encompassed three subthemes: activities to protect the unborn baby, monitoring foetal movement constantly to maintain peace of mind, and receiving foetal reduction for the sake of the pregnancy. Narratives around ‘welcoming new lives with excitement’ reflected four subthemes: overcoming hardship for worthwhile results, realising one’s life and dreams, proving to be fertile enough to give birth, and return to normal life track. Conclusion Findings indicate the need for educational and psychosocial interventions to support women and their families physically and psychologically during ART treatment. The stigma related to infertility and the psychosocial support from family are aspects to consider while planning intervention programmes

The Koolen-de Vries syndrome : A phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant

The Koolen-de Vries syndrome (KdVS; OMIM #610443), also known as the 17q21.31 microdeletion syndrome, is a clinically heterogeneous disorder characterised by (neonatal) hypotonia, developmental delay, moderate intellectual disability, and characteristic facial dysmorphism. Expressive language development is particularly impaired compared with receptive language or motor skills. Other frequently reported features include social and friendly behaviour, epilepsy, musculoskeletal anomalies, congenital heart defects, urogenital malformations, and ectodermal anomalies. The syndrome is caused by a truncating variant in the KAT8 regulatory NSL complex unit 1 (KANSL1) gene or by a 17q21.31 microdeletion encompassing KANSL1. Herein we describe a novel cohort of 45 individuals with KdVS of whom 33 have a 17q21.31 microdeletion and 12 a single-nucleotide variant (SNV) in KANSL1 (19 males, 26 females; age range 7 months to 50 years). We provide guidance about the potential pitfalls in the laboratory testing and emphasise the challenges of KANSL1 variant calling and DNA copy number analysis in the complex 17q21.31 region. Moreover, we present detailed phenotypic information, including neuropsychological features, that contribute to the broad phenotypic spectrum of the syndrome. Comparison of the phenotype of both the microdeletion and SNV patients does not show differences of clinical importance, stressing that haploinsufficiency of KANSL1 is sufficient to cause the full KdVS phenotype