Rare genetic conditions
This is a quantitative, longitudinal birth cohort study in which newborn babies and their birthing parents will be recruited. The study aims to gather data relevant to both the pregnancy (at one timepoint) and the child (longitudinally). Initially, recruitment will take place from a subset of maternity units across England, with the potential to expand to other Nations of the UK in the future. All babies enrolled in the study will undergo the study intervention, which involves whole genome-led newborn screening for approximately 200 treatable childhood conditions, in addition to receiving standard care through the Newborn Blood Spot Test. The study will follow a quasi-experimental approach, comparing data from babies born at centers not participating in the study. The primary objective is to evaluate the utility, clinical effectiveness, and cost-effectiveness of implementing early standard care for managing rare conditions. Posters introducing the study will be placed in secondary care settings to create awareness. Parents will be approached during routine antenatal appointments at 20 weeks of pregnancy. They will receive a copy of the study leaflet or patient information sheet, have the opportunity to ask questions, and be directed to the study microsite or digital information sheet. Parents will also be asked for permission to be contacted by the site study team for further discussion and can choose to provide consent at this stage. Before reaching 36 weeks of pregnancy, parents will be contacted by the site study team, which may occur through phone calls or face-to-face meetings during hospital appointments. The purpose of these interactions is to confirm eligibility, provide additional study information, and address any concerns or inquiries. Depending on the needs of individual parents, multiple conversations may take place. Consent can be obtained through face-to-face consultations or verbal agreements following telephone or video consultations. On the day
Current participant inclusion criteria as of 05/12/2023: 1. Mother / birthing parent over the age of 16 years 2. Mother / birthing parent must have parental responsibility for the baby 3. Singleton birth For those with complicated births or early postnatal periods, for example where admission to NICU is necessary, final sampling decision will be made on a case-by-case basis at the discretion of the research staff and with the NHS clinical team. _____ Previous participant inclusion criteria as of 07/11/2023 to 05/12/2023: 1. Mother / birthing parent aged 16 and over 2. Mother / birthing parent must have parental responsibility for the baby 3. Singleton birth 4. Babies born after 36 weeks, for whom a cord blood sample can be obtained* 5. Babies born at home are included if an individual with legal parental responsibility is willing to bring the baby back to the study site for sample collection *For those with complicated births or early postnatal periods, for example where admission to NICU is necessary, final sampling decision will be made on a case-by-case basis with input from the NHS clinical team. _____ Previous participant inclusion criteria: 1. Mother / birthing parent over the age of 16 2. Mother / birthing parent must have parental responsibility for the baby 3. Singleton birth 4. Babies born after 36 weeks, for whom a cord blood sample can be obtained* 5. Babies born at home are included if an individual with legal parental responsibility is willing to bring the baby back to the study site for sample collection *For those with complicated births or early postnatal periods, for example where admission to NICU is necessary, final sampling decision will be made on a case-by-case basis with input from the NHS clinical team.
Current participant exclusion criteria as of 05/12/2023: 1. Mother / birthing parent under 16 2. Mother / birthing parent who will not have parental responsibility for the baby (Babies who are being adopted) 3. Mother / birthing parent lacking the capacity to provide informed consent for any reason 4. Mother / birthing parent who does not give birth in one of the recruiting hospitals 5. Mother / birthing parent who does not have an NHS number 6. Mother / birthing parent who is serving time in prison _____ Previous participant exclusion criteria: 1. Mother / birthing parent under 16 2. Mother / birthing parent who will not have parental responsibility for the baby (Babies who are being adopted) 3. Mother / birthing parent who does not have a fixed UK address where they reside (prisoners, people in long-term care, people requiring refuge, people of no fixed abode) 4. Mother / birthing parent lacking the capacity to provide informed consent for any reason 5. Mother / birthing parent who does not give birth in one of the recruiting hospitals 6. Mother / birthing parent who does not have an NHS number