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Fetal Medicine August 2010 Advanced Training Skills Module – Fetal Medicine August 2010 Fetal Medicine This module is designed to prepare the future consultant for dealing with congenital abnormalities detected during pregnancy. This includes the organisation and supervision of screening programmes for structural and chromosomal anomalies. Many of these cases need to be managed within a multidisciplinary team which includes clinical geneticists and fetal medicine subspecialists. Apart from a sound knowledge of embryology and fetal physiology, clinicians working in this field must be competent in the prenatal diagnosis of common abnormalities. They also require a sound working knowledge of clinical and laboratory genetics in order that they can investigate and, where appropriate, refer suitable families. Competence in obstetric ultrasound is a prerequisite for advanced skills in prenatal diagnosis and fetal medicine. Trainees must complete the new Intermediate Ultrasound of Fetal Anatomy module prior to entry into the ATSM in Fetal Medicine. Attendance at a suitable Fetal Medicine theoretical course is a compulsory requirement of the module. This must be attended before completion of the ATSM and can have been done not more than three years previously. Specifically, once trained, individuals should: Work well as part of a multidisciplinary team Understand the organization of prenatal screening and diagnostic services at a local and regional level Be clinically competent in the prenatal diagnosis, counselling and management of common fetal abnormalities and markers of chromosomal abnormality. Be clinically competent and certified in first trimester screening for chromosomal abnormality by a combination of nuchal translucency assessment and biochemical marker assays. Be clinically competent at amniocentesis and have a sound knowledge of the principles and techniques of first trimester chorion villus biopsy. Be clinically competent in the counselling and management of families with common genetic diseases (e.g. muscular dystrophy, cystic fibrosis) Understand the neonatal implications of common fetal abnormalities Be aware of their own clinical and professional limitations and be comfortable with seeking advice from other specialists or professional groups Be able to undertake and use clinical audit Be able to write evidence based guidelines The ATSM should be undertaken under the supervision of an identified supervisor, who must be in a position to directly supervise and assess competence. The supervisor must undertake at least two sessions of obstetric ultrasound per week, at least one of which must include referred cases and involve an appropriate spectrum of fetal conditions. The trainee will undertake sessions under the supervision of professionals other than the named supervisor. In these circumstances, it is the supervisor‟s duty to ensure that the professional to whom training is delegated is sufficiently competent, willing and able to teach the trainee. Dual supervision is also acceptable e.g. with a consultant radiologist with an interest in the field. A minimum of two sessions per week should be dedicated to this ATSM. In addition to attending fetal medicine / prenatal ultrasound sessions the trainee must attend four fetal echocardiography sessions, four clinical genetics clinics (preferably combined fetal medicine / genetics), four neonatal ward rounds or clinics, two perinatal post-mortem examinations and eight sessions in related disciplines (which must include cytogenetics and molecular genetics). In addition the 1 Advanced Training Skills Module – Fetal Medicine August 2010 trainee will be expected to attend at least 4 sessions at a fetal medicine tertiary referral centre (to witness more complex cases and procedures and gain an insight into referral patterns and organisation of services). Sessions should be documented in the appropriate section of the logbook. The trainee should also develop a practice guideline and conduct or supervise an audit relevant to the ATSM. 2 Advanced Training Skills Module – Fetal Medicine August 2010 1. CNS anomalies Learning outcomes To be able to carry out appropriate assessment and management of a fetus with a major CNS anomaly To understand the management, complications and outcomes of neonates with major CNS anomalies Knowledge criteria Clinical competency Professional skills and Training Evidence/ Attitudes support Assessment Embryology Take an appropriate history Ability to take an appropriate history Observation of and Log of - brain & spinal cord (incl. postnatal development) discussion with senior experience and Perform an ultrasound scan to assess: Ability to: medical staff competence head shape, biometry -perform detailed ultrasound Pathology / Epidemiology - pathology of common major CNS anomalies cavum, assessment of fetal CNS Appropriate postgraduate courses Mini-CEX - incidence of CNS anomalies thalami, cortex -reach a differential diagnosis -perform and interpret appropriate e.g. Fetal Medicine - risk factors ventricles, choroid plexus investigations Case-based associated chromosomal anomalies cerebellum, cisterna magna - Sessions in; discussions Ability to: -fetal medicine Screening / diagnosis Be able to diagnose the following: anencephaly / exencephaly -liaise with fetal medicine specialists, -neonatology - ultrasound appearance of normal spina bifida neonatologists, paediatric neurologists -perinatal embryonic/fetal CNS encephalocele and paediatric surgeons where pathology - biometric measurements (incl. transcerebellar ventriculomegaly (all degrees) appropriate (including appropriate diameter, ventricular size, cisterna magna) holoprosencephaly referral for second opinion) Personal study - ultrasound appearances of common CNS Dandy Walker spectrum -formulate, implement and where anomalies (incl. differential diagnosis) appropriate modify management plan Manage a case of neural tube defect, ventriculomegaly counsel women and their partners Management / outcome including: accordingly: - acrania / exencephaly / anencephaly -counselling regarding fetal / infant risks - -fetal (and maternal) risks - spinal bifida (including long term health implications) - -long term outcome - encephalocele arrange / perform appropriate fetal & maternal - -postnatal or post mortem - ventriculomegaly investigations findings - holoprosencephaly -refer to fetal medicine centre where appropriate - -recurrence risks for further counselling / management -formulate management plan for future Recurrence risks / prevention -discuss and offer termination if appropriate pregnancy in collaboration with provide appropriate support / follow up of - CNS anomalies specialists ongoing pregnancy - Prevention of neural tube defect -plan delivery / appropriate neonatal support in -support parent(s) Pharmacology collaboration with fetal medicine specialist / neonatologist - Folic acid 3 Advanced Training Skills Module – Fetal Medicine August 2010 2 Cardiac anomalies Learning outcomes To be able to carry out appropriate assessment and management of a fetus with a major cardiac anomaly To understand the management, complications and outcome of neonates with cardiac anomalies Knowledge criteria Clinical competency Professional skills and Training Evidence/ Attitudes support Assessment Embryology Take an appropriate history Ability to take an appropriate history Observation of and Log of - heart and cardiovascular system discussion with senior experience and - circulatory adaptations at birth Perform echocardiography to assess: Ability to: medical staff competence -cardiac size, position -perform echocardiography (including Doppler) Appropriate Pathology / Epidemiology atria & ventricles Mini-CEX -outflow tracts -reach a differential diagnosis postgraduate courses - pathology of major cardiac anomalies e.g. Fetal Medicine - incidence of major cardiac anomalies -heart rate Case-based Ability to: - risk factors (incl. family history) Be able to diagnose the following: -liaise with fetal medicine specialists, Sessions in; discussions associated chromosomal / genetic - -atrioventricular and large ventricular septal defects) paediatric cardiologists and -fetal medicine (incl. 22q deletions) anomalies -major valvular abnormalities & hypoplastic neonatologists (including appropriate -neonatology heart (e.g. aortic / mitral atresia) referral for second opinion) -perinatal Screening / diagnosis -major outflow tract anomalies (e.g. transposition) -in collaboration with specialists, pathology ultrasound appearance of normal fetal - -arrhythmia formulate, implement and where -paediatric heart appropriate, modify management plan cardiology - biometric measurements (incl. Manage a case of septal defect, hypoplastic heart including: counsel women and their partners chamber sizes) -counsel regarding likely diagnosis and fetal / infant accordingly on: Personal study - ultrasound appearances of major risks - -fetal risks cardiac anomalies (incl. differential -arrange appropriate fetal & maternal investigations - -long term outcome diagnosis) (incl. M-mode, Doppler echocardiography) - -postnatal or post mortem findings -refer to fetal medicine centre where appropriate for Management / outcome - recurrence risks further counselling / management -formulate management plan for future - septal defects -discuss and offer termination if appropriate pregnancy in collaboration with specialists - hypoplastic heart syndromes -provide appropriate support / follow up of ongoing support parent(s) - outflow tract anomalies pregnancy - arrhythmia -plan delivery
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