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

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.

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

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

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 postgraduate courses - pathology of major cardiac anomalies -outflow tracts -reach a differential diagnosis 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 / appropriate neonatal support in collaboration with fetal medicine specialist/paediatric Recurrence risks cardiologist - cardiac anomalies

Advanced Training Skills Module – Fetal Medicine August 2010

3. Genitourinary (GU) anomalies

Learning outcomes To be able to carry out appropriate assessment, counselling and management of a fetus with a major genitourinary anomaly To understand the management, complications and outcomes of neonates with genitourinary 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 experience - genitor-urinary system (incl. physiology of discussion with senior and fetal urinary system) Perform ultrasound scan to assess: Ability to: medical staff competence - functional adaptations after birth -renal size -perform detailed ultrasound assessment -renal parenchyma & collecting system of fetal GU system Appropriate Mini-CEX Pathology / Epidemiology ureters & bladder -reach a differential diagnosis postgraduate courses e.g. Fetal Medicine - pathology of major GU anomalies -genitalia Ability to: - incidence of GU anomalies -liquor volume -liaise with fetal medicine specialists, Sessions in; Case-based - risk factors Be able to diagnose the following: neonatologists, paediatric nephrologists, -fetal medicine discussions - associated chromosomal anomalies -renal agenesis paediatric surgeons where appropriate -neonatology (including appropriate referral for second -perinatal Screening / diagnosis multicystic / dysplastic kidney pylectasis / hydronephrosis opinion) pathology - ultrasound appearance of normal -formulate, implement and where -paediatric embryonic/fetal / neonatal urinary tract lower urinary tract obstruction appropriate modify management plan nephrology ultrasound appearances of GU anomalies - Manage a case of renal agenesis, multicystic / dysplastic -counsel women and their partners (incl. differential diagnosis) kidney, hydronephrosis including: accordingly Personal study - biochemical measurement of fetal urine -counsel regarding fetal / infant risks (including long- -fetal risks function term health implications) - -long term outcome -arrange / perform appropriate fetal and maternal Management / outcome - -postnatal or post mortem findings investigations - renal agenesis -refer to fetal medicine centre where appropriate for- -recurrence risks - renal cystic disease further counselling / management -formulate management plan for future - hydronephrosis -discuss and offer termination if appropriate pregnancy in collaboration with specialists - lower urinary tract obstruction - provide appropriate support / follow up of ongoing -support parent(s) pregnancy Recurrence risks -plan delivery / appropriate neonatal support in - GU anomalies collaboration with fetal medicine specialist/neonatologist

Advanced Training Skills Module – Fetal Medicine August 2010

4. Thoracic abnormalities

Learning outcomes To be able to carry out appropriate assessment, counselling and management of a fetus with a thoracic anomaly To understand the management, complications and outcomes of neonates with thoracic anomalies

Knowledge criteria Clinical competency Professional skills and Attitudes Training Evidence/ support Assessment Embryology Take an appropriate history Ability to take an appropriate history Observation of and Log of experience - Trachea, lungs & diaphragm discussion with senior and - functional adaptations after birth Perform ultrasound scan to assess: Ability to: medical staff competence -chest size and shape -perform detailed ultrasound assessment of fetal Pathology / Epidemiology -mediastinal shift thorax Appropriate Mini-CEX postgraduate courses - Pathology of pulmonary anomalies -ribs -reach a differential diagnosis e.g. Fetal Medicine Case-based - Incidence of pulmonary anomalies -lung parenchyma Ability to: discussions associated chromosomal anomalies -diaphragm - -liaise with fetal medicine specialist,

neonatologists, surgeons (including appropriate Sessions in; Screening / diagnosis Be able diagnose to the following: -CAML referral for second opinion) -fetal medicine - Ultrasound appearance of normal -diaphragmatic hernia -in collaboration with specialists, formulate, -neonatology embryonic/fetal thorax -pleural effusion implement and where appropriate modify -paediatric Ultrasound appearances of major - management plan surgery pulmonary anomalies (incl. differential Manage a case of CAML, diaphragmatic hernia -counsel women and their partners accordingly -perinatal diagnosis) including: - -fetal risks pathology

-counsel regarding fetal / infant risks - -Long term outcome Management / outcome Personal study -arrange appropriate fetal investigations -postnatal or post mortem findings - Cystic adenomatoid malformation of - -refer to fetal medicine centre for further lung (CAML) - -recurrence risks counselling / management - Diaphragmatic hernia -formulate management plan for future pregnancy -discuss and offer termination if appropriate in collaboration with specialists - Pleural effusion provide appropriate support / follow up of -support parent(s) ongoing pregnancy Recurrence risks -plan delivery / appropriate neonatal support in - Major pulmonary anomalies collaboration with fetal medicine specialist / neonatologist / paediatric surgeon

Advanced Training Skills Module – Fetal Medicine August 2010

5. Abdominal wall (AW) and gastrointestinal (GI) anomalies

Learning outcomes To be able to carry out appropriate assessment, counselling and management of a fetus with an AW or GI anomaly To understand the management, complications and outcomes of neonates with AW or GI anomalies

Knowledge criteria Clinical competency Professional skills and Attitudes Training Evidence/ support Assessment Embryology Take an appropriate history Ability to take an appropriate history Observation of and Log of experience - Abdominal wall discussion with senior and competence - Gastrointestinal tract Perform ultrasound scan to assess: Ability to: medical staff -Abdominal shape & biometry -perform detailed ultrasound assessment of Mini-CEX Pathology / Epidemiology -Abdominal wall / cord insertion fetal AW and GI tract Appropriate postgraduate courses - Pathology of AW and GI anomalies -Stomach, small & large bowel -reach a differential diagnosis -perform and interpret appropriate e.g. Fetal Medicine Case-based - Incidence of AW and GI anomalies liver, gallbladder -Intrahepatic vein & ductus venosus investigations discussions - risk factors Sessions in; - Associated chromosomal anomalies Be able to diagnose the following: Ability to: -fetal medicine

Gastroschisis / body wall defect -formulate, implement and where appropriate -neonatology Screening / diagnosis Umbilical hernia / exomphalos modify management plan -paediatric Ultrasound appearance of normal - Absent / enlarged stomach -liaise with fetal medicine specialists, surgery embryonic/fetal AW and GI tract -bowel atresia neonatologists, paediatric surgeons (including -perinatal Ultrasound appearances of AW and GI - -echogenic bowel appropriate referral for second opinion) -pathology anomalies (incl. differential diagnosis) -ascites -counsel women and their partners

accordingly Personal study Management / outcome Manage a case of AW defect, bowel atresia, echogenic- -fetal risks - Gastroschisis bowel including: - -long term outcome - umbilical hernia / exomphalos -counsel regarding fetal / infant risks (including long -postnatal or post mortem findings - Bowel atresia (incl. oesophageal & term health implications) - duodenal atresia) -arrange / perform appropriate fetal investigations - -recurrence risks - echogenic bowel refer to fetal medicine centre where appropriate for -formulate management plan for future further counselling / management pregnancy in collaboration with specialists Recurrence risks -discuss and offer termination if appropriate -support parent(s) - Major AW and GI anomalies - provide appropriate support / follow up of ongoing pregnancy -plan delivery / appropriate neonatal support in collaboration with fetal medicine specialist / paediatric surgeon

Advanced Training Skills Module – Fetal Medicine August 2010

6 Neck and face anomalies

Learning outcomes To be able to carry out appropriate assessment, counselling and management of a fetus with a neck or facial anomaly To understand the management, complications and outcomes of neonates with neck or facial anomalies

Knowledge criteria Clinical competency Professional skills and Attitudes Training Evidence/ support Assessment Embryology Take an appropriate history Ability to take an appropriate history Observation of and Log of experience - Fetal face discussion with senior and competence - Fetal neck Perform ultrasound scan to assess: Ability to: medical staff -head shape & biometry (incl. orbital -perform detailed ultrasound assessment of Mini-CEX Pathology / Epidemiology diameters) fetal neck & face Appropriate postgraduate courses - Pathology of neck and facial anomalies -face and palate -reach a differential diagnosis -neck -perform and interpret appropriate e.g. Fetal Medicine Case-based - Incidence of neck and facial anomalies investigations discussions Risk factors - Be able to diagnose the following: Sessions in; - Associated chromosomal anomalies -cystic hygroma Ability to: -fetal medicine

-facial cleft -liaise with fetal medicine specialists, facial -neonatology Screening / diagnosis -micrognathia cleft team, neonatologists, paediatric -paediatric - Ultrasound appearance of normal fetal neck surgeons, facial cleft team (including surgery and face Manage a case of cystic hygroma, facial cleft appropriate referral for second opinion) -perinatal - Ultrasound appearances of neck and facial including: -in collaboration with specialists, formulate, pathology anomalies (incl. differential diagnosis) -counsel regarding fetal / infant risks implement and where appropriate modify (including long term health implications) management plan Personal study Management / outcome -arrange / perform appropriate fetal -counsel women and their partners - Cystic hygroma investigations accordingly - Facial cleft -refer to fetal medicine centre where - -fetal risks - Micrognathia appropriate for further counselling / - -long term outcome management - -postnatal or post mortem findings -discuss and offer termination if appropriate Recurrence risks - -recurrence risks - Neck and facial anomalies provide appropriate support / follow up of ongoing pregnancy -formulate management plan for future pregnancy in collaboration with specialists -plan delivery / appropriate neonatal support in collaboration with the fetal medicine -support parent(s) specialist / cleft team

Advanced Training Skills Module – Fetal Medicine August 2010

7 Skeletal anomalies

Learning outcomes To be able to carry out appropriate assessment, counselling and management of a fetus with a skeletal anomaly To understand the management, complications and outcomes of neonates with skeletal 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 experience - Fetal skeleton and spine discussion with senior and competence Perform ultrasound scan to assess: Ability to: medical staff Pathology / Epidemiology -long bone shape & biometry -perform detailed ultrasound Mini-CEX assessment of fetal skeleton Appropriate - Pathology of skeletal anomalies -ribs & spine -mineralisation of skeleton -reach a differential diagnosis postgraduate courses - incidence of skeletal anomalies Case-based -feet and hands e.g. Fetal Medicine - associated chromosomal anomalies discussions -joints Ability to:

Screening / diagnosis -fetal tone and movements -liaise with fetal medicine specialists, geneticists, neonatologists, orthopaedic Sessions in; Ultrasound appearance of normal fetal - surgeons where appropriate (including -fetal medicine skeleton Be able to diagnose the following: -micromelia (due to lethal and non-lethal appropriate referral for second opinion) -neonatology - Ultrasound appearances of skeletal dysplasias) -in collaboration with specialists, -paediatric anomalies (incl. differential diagnosis) -limb reduction defect formulate, implement and where surgery appropriate modify management plan -perinatal Management / outcome -talipes -polydactyly -counsel women and their partners pathology - Lethal skeletal dysplasias (incl. accordingly thanatophoric dysplasia, achondrogenesis, Personal study osteogenesis imperfecta) Manage a case of lethal skeletal dysplasia, limb - -fetal risks reduction defect, talipes including: - Achondroplasia - -long term outcome -counsel regarding likely fetal diagnosis and fetal / -postnatal or post mortem findings - Talipes infant risks - - Limb reduction defect -arrange appropriate fetal & maternal investigations- -recurrence risks - Polydactyly refer to fetal medicine centre where appropriate for -formulate management plan for future further counselling / management pregnancy Recurrence risks - discuss and offer termination if appropriate -support parent(s) - Skeletal anomalies -provide appropriate support / follow up of ongoing pregnancy -plan delivery / appropriate neonatal support in collaboration with fetal medicine specialist / neonatologist

Advanced Training Skills Module – Fetal Medicine August 2010

8 Fetal hydrops

Learning outcome To be able to carry out appropriate assessment, counselling and management of a fetus with hydrops fetalis To understand the management, complications and outcomes of neonates with congenital hydrops

Knowledge criteria Clinical competency Professional skills and Training Evidence/ Attitudes support Assessment Pathology / Epidemiology Take an appropriate history Ability to take an appropriate history Observation of and Log of experience - Pathology of fetal hydrops (incl. immune and discussion with senior and competence non-immune causes) Perform ultrasound scan to assess: Ability to: medical staff - Incidence of fetal hydrops -Cause of hydrops (incl. echocardiography and -perform detailed ultrasound Mini-CEX middle cerebral artery Doppler assessment of fetal hydrops Appropriate - Risk factors -Severity of hydrops (incl. amniotic fluid volume) -reach a differential diagnosis postgraduate courses - Associated chromosomal / genetic / syndromic -Fetal condition e.g. Fetal Medicine Case-based anomalies Ability to: discussions

-liaise with fetal medicine specialists, Sessions in; Diagnosis Be able to diagnose the following: -Immune hydrops (see also 4.8) and neonatologists (including referral -fetal medicine - Ultrasound appearance of fetal hydrops (incl. for second opinion) -genetics differential diagnosis) -Non-immune hydrops -in collaboration with specialists, -neonatology - Role of, echocardiography (see 3.2), MCA Manage a case of fetal hydrops including: formulate, implement and where -perinatal Doppler and fetal blood sampling -counselling regarding fetal / infant risks appropriate modify management plan pathology - counsel women and their partners Management / outcome -arrange appropriate fetal and maternal investigations accordingly Personal study Red cell alloimmunisation - -refer to fetal medicine centre for further counselling- -fetal risks - Cardiac arrhymthmias / management - -maternal risks - Fetal infection -discuss and offer termination if appropriate - -long term outcome - Other non-immune causes of hydrops - provide appropriate support / follow up of ongoing -postnatal or post mortem pregnancy findings Recurrence risks - plan delivery / appropriate neonatal support in - -recurrence risks - Immune and non-immune hydrops collaboration with fetal medicine specialist / neonatologist - formulate management plan for future pregnancy in collaboration with specialists - support parent(s)

Advanced Training Skills Module – Fetal Medicine August 2010

9 Multiple pregnancies

Learning outcomes To be able to carry out appropriate assessment, counselling and management of abnormalities in multiple pregnancies To understand the management, complications and outcomes of abnormalities in twins

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 experience - Mono & dizygous twinning discussion with senior and competence - placentation – chorionicity / amnionicity Perform ultrasound scan in multiple pregnancy to Ability to: medical staff assess: -perform detailed ultrasound Mini-CEX Pathology / Epidemiology -chorionicity and amnionicity -assessment of a multiple pregnancy Appropriate - with a fetal anomaly or discordant postgraduate courses - Pathology of abnormalities related to twinning -fetal anatomy -fetal growth (see 4.3) growth e.g. Fetal Medicine Case-based and twin placentation (incl. twin-to-twin discussions transfusion syndrome [TTTS], twin reversed -reach a differential diagnosis arterial perfusion [TRAP] and conjoining. Sessions in; Be able to diagnose the following: Ability to: -fetal medicine - -Multiple pregnancy with discordant fetal -liaise with fetal medicine -neonatology - Incidence of abnormalities related to twinning abnormality subspecialists, neonatologists where -perinatal risk factors for twinning and related anomalies - -Multiple pregnancy with discordant fetal growth appropriate (including appropriate pathology

-TRAP sequence referral for second opinion) Screening / diagnosis -Conjoined twin in collaboration with specialists, Personal study Ultrasound determination of zygosity / - -TTTS formulate, implement and where chorionicity appropriate modify management plan StratOG.net e-tutorials - Chorionicity and amnionicity Manage a case of multiple pregnancy with fetal counsel women and their partners - Ultrasound appearances of abnormalities abnormality/ TTS including: accordingly related to twinning (incl. differential diagnosis) -counsel regarding fetal / infant risks (incl. selective- -fetal risks (incl. invasive feticide, amnio reduction & laser ablation) procedures) neonatal Management / outcome - arrange / perform appropriate fetal and maternal management - Triplet & higher order multiple pregnancy investigations - -long term outcome Discordant anomalies in multiples -refer to fetal medicine centre where appropriate for - -postnatal or post mortem further counselling / management - TRAP sequence findings - Conjoined twins - provide appropriate support / follow up of ongoing pregnancy - -delivery - TTTS -plan delivery / appropriate neonatal support in - support parent(s) - Discordant fetal growth collaboration with fetal medicine specialist / neonatologist

Advanced Training Skills Module – Fetal Medicine August 2010

10. Disorders of amniotic fluid (AF)

Learning outcomes To be able to carry out appropriate assessment, counselling and management of a pregnancy with abnormal AF

Knowledge criteria Clinical competency Professional skills and Training Evidence/ Attitudes support Assessment Embryology / Physiology Take an appropriate history Ability to take an appropriate history Observation of and Log of experience Placenta and membranes discussion with and competence 11. formation / function of amniotic fluid Perform ultrasound scan to assess AF volume Ability to: senior medical staff -perform detailed ultrasound Mini-CEX Pathology / Epidemiology Be able to diagnose and identify cause of: assessment of AF Appropriate

Pathology of disorders of AF (incl. -oligo/an-hydramnios (incl ROM, renal anomaly, FGR, -reach a differential diagnosis postgraduate secondary effects of early amnion rupture postmaturity -perform and interpret appropriate courses Case-based & oligohydramnios) -hydramnios (incl. GI anomaly, neuromuscular anomaly, investigations e.g. Fetal Medicine discussions incidence of AF disorders maternal diabetes) risk factors Ability to: Sessions in; associated chromosomal anomalies Manage a case of oligo/an-hydramnios including: -liaise with fetal medicine specialists, -fetal medicine -counselling regarding fetal / infant risks neonatologists where appropriate -neonatology Diagnosis -arrange / perform appropriate fetal investigations (including appropriate referral for -genetics Ultrasound measurement of AF -institute appropriate maternal and fetal monitoring second opinion) -perinatal diagnosis of oligohydramnios and -refer to fetal medicine where appropriate for further -in collaboration with specialists pathology hydramnios (incl. differential diagnosis) counselling /management formulate, implement and where

-plan delivery / appropriate neonatal support in collaboration appropriate modify management plan Personal study Management / outcome with fetal medicine specialist -counsel women and their partners - oligo/an-hydramnios accordingly - hydramnios Manage a case of hydramnios including: - -fetal and neonatal risks indications for / risks of: - -counsel regarding fetal/infant risks (incl. preterm delivery) - -maternal risks -amnioinfusion (see 3.3) -arrange / perform appropriate fetal & maternal investigations- -postnatal or post mortem -amnioreduction -refer to fetal medicine centre where appropriate for further findings counselling - -recurrence risks Pharmacology - institute appropriate maternal and fetal monitoring support parent(s) - Prostaglandin synthase inhibitors - institute, where appropriate, maternal medical therapy Plan delivery / appropriate neonatal support in collaboration with fetal medicine specialist

Advanced Training Skills Module – Fetal Medicine August 2010

11. Termination of pregnancy

Learning outcomes To be able to carry out counselling and management of families undergoing TOP for fetal anomaly

Knowledge criteria Clinical competency Professional skills and Training Evidence/ Attitudes support Assessment Law / Ethics Observation of and Log of experience - abortion law Manage a case of major fetal anomaly: Ability to: discussion with senior and competence - ethics issues relating to TOP for fetal anomaly counsel regarding: -reach a definitive diagnosis of major medical staff

- guidance on use of feticide - risk / impact of handicap associated with fetal anomaly (where possible) Mini-CEX Appropriate Epidemiology anomaly -assess risks of death and/or handicap counsel women and their partners postgraduate courses - incidence of & indications for TOP for fetal- feticide regarding: e.g. Fetal Medicine Case-based anomaly - methods of TOP (medical & surgical) discussions - -risks of death / handicap - rates of TOP for fetal anomalies and factors- complications of TOP Sessions in: influencing decision - post-mortem - -option of TOP feticide -fetal medicine Pathology - aftercare Ability to: -perinatal 12. consent for post-mortem (& tissue plan TOP and post-TOP care pathology retention) -formulate, implement and where arrange appropriate fetal (and maternal) -genetics 13. conduct of post-mortem examination appropriate modify management plan investigations incl. post-mortem Management (incl. methods, complications) for TOP (incl. post-TOP review) refer, where appropriate, for further counselling RCOG Guidance on - medical TOP -liaise with fetal medicine specialists, conduct post-TOP counselling midwives, neonatologists and Late TOP for Fetal - surgical TOP (incl. suction aspiration and refer to fetal medicine specialist for feticide pathologists where appropriate Anomaly dilatation & evacuation) -counsel women and their partners feticide Personal study - Perform: accordingly; - impact of gestational age on complications medical TOP or refer, where appropriate, for (physical and psychological) same - -procedure & risks of TOP Pharmacology vacuum aspiration and dilatation / evacuation or - -post-mortem - mifepristone refer, where appropriate, for same -support women and their partners - prostaglandin analogues (incl. cervagem, supportive counselling refer, where appropriate, for further misoprostol [see 4.1] post-TOP counselling incl: counselling / support - potassium chloride - postmorterm findings (where appropriate) Bereavement - recurrence risks - Process and milestones - management plan for future pregnancy - Management

Advanced Training Skills Module – Fetal Medicine August 2010

12. Genetic disorders

Learning outcomes To be able to carry out appropriate counselling and management in families with a previous genetic disorder

Knowledge criteria Clinical competency Professional skills and Training Evidence/ Attitudes support Assessment Genetics Take an appropriate history and construct, Ability to identify patients with, or at risk of Observation of and Log of 14. Gene structure & function where appropriate, a family tree in patients with a genetic condition discussion with senior experience and DNA as genetic material or at risk of genetic disease. medical staff competence

replication, transcription & translation Ability to: Manage a case with a personal / family history Appropriate mechanisms & effects of mutation -liaise with and refer to clinical Mini-CEX 15. inheritance & susceptibility of: postgraduate courses -genetic disease (incl. cystic fibrosis, geneticist, fetal medicine specialist, e.g. Fetal Medicine patterns of inheritance of single genes and associated laboratory disciplines muscular dystrophy, haemoglobinopathy, Case-based genetic heterogeneity (locus & allele) (incl. cyto- and molecular genetics) haemophilia) Sessions in; discussions new mutations causing single gene disorder in collaboration with clinical including counselling about: -fetal medicine expression & penetrance geneticists and other specialists, multifactorial inheritance (incl. summation - / -risk and impact of disease formulate, implement and where -genetics -laboratory specialties interaction gene effects, polymorphisms) -Information sources & support groups appropriate modify management plan -prenatal diagnostic options (incl. risks (incl. cyto- / molecular mitochondrial inheritance counsel women and their partners timing of tests / results, accuracy) genetics about: - -management options after testing -neonatology Service & Laboratory aspects - -genetics in an (incl. termination of pregnancy) -perinatal - Organisation & role of Clinical Genetics Services -refer to Clinical Geneticist or fetal understandable & non- pathology - DNA testing in clinical practice medicine centre for further specialist directive way -ethical & societal issues and/or genetic counselling / - -fetal risks Personal study -diagnostic, predictive & carrier testing management - -prenatal screening / diagnostic -uses & limitations Plan care of ongoing pregnancy / delivery in options (incl. limitations of tests) StratOG.net e-tutorials -diagnostic pitfalls collaboration with fetal medicine specialist / - treatment, management - Indications, methods and limitations (incl. failure / error geneticist rates) of: - reproductive options -cytogenetics -in collaboration with specialists, -FISH formulate management plan for -mutation detection / PCR ongoing and future pregnancies -gene tracking using RFLPs -support parent(s) -respect confidentiality

Ability to use genetic testing appropriately

Advanced Training Skills Module – Fetal Medicine August 2010

Knowledge criteria Clinical competency Professional skills and Training Evidence/ Attitudes support Assessment

Methods of prenatal diagnosis (incl. indications, techniques, complications) ultrasound amniocentesis chorion villus sampling (CVS)

Single gene defects - epidemiology & inheritance 16. effects of mutation & associated pathology 17. clinical / pathological features 18. prognosis 19. recurrence risks 20. prenatal diagnosis of the following defects: cystic fibrosis muscular dystrophy haemoglobinopathies haemophilias

Advanced Training Skills Module – Fetal Medicine August 2010

13. Chromosomal disorders

Learning outcomes To be able to carry out appropriate counselling and management in families with a previous chromosomal disorder To be able to carry out appropriate counselling and management of fetal chromosome anomaly To be able to carry out appropriate counselling and management of rarer cytogenetic anomalies including translocations, markers and mosacism.

Knowledge criteria Clinical competency Professional skills and Training Evidence/ Attitudes support Assessment Chromosomes Take an appropriate history Ability to take an appropriate history Observation of and Log of - structure & function (see 3.2/3.3) discussion with senior experience and - cell division Manage a case with a personal / family history of a Ability to; medical staff competence chromosomal anomaly (incl. structural alterations) - types of abnormality (incl. structural counsel women and partners rearrangements, trisomies, sex chromosome including: - before screening test Appropriate counsel about: postgraduate courses Mini-CEX anomalies, extra markers, mosaicism) - after positive result e.g. Fetal Medicine Screening / diagnosis - risk and impact of anomaly formulate, implement and where The 11-14 week FMF Case-based - prenatal diagnostic options appropriate modify management - biochemical markers (incl. AFP, uE3, hCG, course or equivalent discussions - management options after testing plan in a woman at „higher‟ risk of PAPP-A, inhibin-A) arrange appropriate fetal & parental investigations chromosomal anomaly - ultrasound markers OSATS 11-14 weeks (incl. nuchal translucency, refer where appropriate for further specialist and/or Sessions in; genetic counselling / management Ability to (amniocentesis) nasal bone, ductus venosus Doppler, fetal medicine plan subsequent care of ongoing pregnancy formulate, implement and where tricuspid regurgitation) genetics appropriate modify management plan 18-21 weeks (incl. nuchal oedema, laboratory Counsel women about screening for / diagnosis of in a case with a chromosomal clinodactyly, echogenic bowel, pyelectasis, specialties (incl. chromosomal anomalies in pregnancy including: anomaly choroid plexus cysts, nasal bone, short cyto- / molecular screening options (biochemistry & ultrasound) liaise with fetal medicine specialist, femur/humerus) genetics, serum clinical geneticist and cytogenetics - Likelihood ratios & risk calculation diagnostic tests (incl. laboratory methods, risks, screening) accuracy and timing of results) and refer where appropriate. - screening strategies neonatology counsel women and their partners accuracy (incl. detection rate, false paediatric surgery Manage a case of chromosomal anomaly diagnosed in about; positive rate) perinatal pregnancy including; - fetal risks service / cost implications pathology counsel about fetal / infant risks and long term laboratory diagnosis (incl. methods, failure / - prenatal screening / diagnostic - outcome of the following anomalies: error rates) options (incl. limitations of tests) Personal study trisomy 21 (Down syndrome) cytogenetic analysis - - reproductive options FISH - trisomy 18 (Edward syndrome) PCR - trisomy 13 (Patau syndrome) - 45X (Turner syndrome)

Advanced Training Skills Module – Fetal Medicine August 2010

Knowledge criteria Clinical competency Professional skills and Training Evidence/ Attitudes support Assessment - mosaicism (incl. classification and management) - triploidy formulate management plan for National Screening - principles & organisation of screening / - common sex chromosome anomalies (incl. ongoing and future pregnancies Committee Guidance diagnostic programme for chromosomal 47XXY (Kleinfelter syndrome), 47XXX) support parent(s) on Down syndrome anomalies counsel about management options (incl. TOP) respect confidentiality screening National Screening Committee refer where appropriate for further counselling / role of regional screening coordinators support Ability to use chromosomal testing

quality control & audit plan care of ongoing pregnancy / delivery appropriately

Perform: RCOG Guideline No 8 Chromosomal anomalies Ultrasound screening for chromosomal anomaly at: Amniocentesis and - epidemiology - 10-14 wk including: chorion villus sampling - pathology nuchal translucency - clinical / pathological features - 18-21 wk including: - prognosis nuchal oedema - recurrence risks echogenic bowel - prenatal diagnosis ventriculomegaly of the following chromosomal anomalies major structural defect trisomy 21 risk calculation for trisomy 21 based on ultrasound (+/- biochemical) markers trisomy 18 amniocentesis trisomy 13 Turner syndrome

Kleinfelter syndrome XXX triploidy

Advanced Training Skills Module – Fetal Medicine August 2010

14. Red cell alloimmunisation

Learning outcomes To understand the principles and practical aspects of screening for and prevention of red cell alloimmunisation To be able to carry out appropriate assessment and management of a woman with a red cell alloimmunisation To understand the management, complications and outcome of a neonate with haemolytic disease of the newborn (HDN)

Knowledge criteria Clinical competency Professional skills and Training support Evidence / attitudes Assessment Blood group systems / pathophysiology Take an appropriate obstetric history Ability to take an appropriate history Observation of and Log of past obstetric history discussion with senior experience & - rhesus (incl. gene structure and prediction of genotype) timing / method of sensitisation medical staff competence - other red cell antigens causing HDN - fetal pathology in HDN Epidemiology Manage a case of red cell Ability to; alloimmunisation perform and interpret appropriate Appropriate postgraduate Mini-CEX - incidence (alloimmunisation & complications) institute appropriate maternal and investigations in fetus at risk of courses - risk factors (sensitizing events) fetal monitoring haemolytic anaemia (incl. MCA Case-based Laboratory methods assess risk of fetal anaemia (incl. Doppler) Attachments: discussions perform & interpret MCA Doppler) liaise with fetal medicine specialists, fetal medicine Antibody detection (antiglobulin tests) - refer to fetal medicine specialist neonatologists and laboratory neonatology - Kleihauer testing / flow cytometry for FMH fetomaternal where appropriate, for further (haematology/blood transfusion) haemorrhage (FMH) counselling / management in collaboration with fetal medicine Personal study - DNA analysis (incl. use of fetal DNA in maternal plasma) plan mode / place / timing of specialists, formulate, implement and Prevention delivery in collaboration with where appropriate modify a RCOG Guideline No22 specialists management plan for a woman with Anti-D immunoglobulin for - FMH red cell antibodies rhesus prophylaxis - organisation & effectiveness of screening and prevention counsel women and their partners programmes accordingly StratOG.net e-tutorials Management - prevention of alloimmunisation - screening and diagnosis fetal anaemia (incl. MCA Doppler) - fetal / neonatal risks of red cell antibodies - hydrops Outcome - recurrence risks and management plan for future - Neonatal complications of HDN (incl. hyper-bilirubinaemia, pregnancy anaemia) - Management of complications (incl. exchange transfusion) Pharmacology

- Anti-D immunoglobulin

Advanced Training Skills Module – Fetal Medicine August 2010

15. Fetal growth disorders

Learning outcomes To be able to carry out appropriate assessment and management of the SGA / growth restricted fetus To be able to understand the management, complications and outcomes of growth restricted neonates To be able to carry out appropriate assessment and management fetal macrosomia To understand the management, complications and outcome of neonates with growth disorders

Knowledge criteria Clinical competency Professional skills and attitudes Training Evidence / support Assessment Fetal growth Take an appropriate history and perform an Ability to take an appropriate history and Observation of and Log of experience exam to screen for fetal growth disorders conduct an examination to assess fetal size discussion with & competence - pattern (incl. organ-specific growth) (incl. use of customized growth chart) senior medical staff - causes (incl. fetal, placental & maternal factors) Definitions Perform and interpret the following; Abilty to Sessions in Mini-CEX - small for gestational age (SGA) / FGR ultrasound morphometry perform and interpret ultrasound in fetal medicine - large for gestational age (LGA) / macrosomia umbilical artery Doppler fetus with suspected growth disorder neonatology Screening / diagnosis middle cerebral artery Doppler formulate, implement and where ductus venosus Doppler appropriate modify a management plan Personal study - previous history biophysical profile (incl. AFV, CTG) liaise where appropriate with fetal clinical exam (incl. symphysis fundal distance) - medicine specialists, neonatologists RCOG Guideline No - ultrasound morphometry – basic and derived Manage a case of SGA /FGR (incl. appropriate referral for second 31 Small-for- measurements (incl. estimated fetal weight) arrange appropriate investigations to opinion) gestational age - customised growth charts identify cause counsel women and their partners fetus Tests of fetal wellbeing institute appropriate monitoring accordingly StratOG.net e- Technique, indications for & interpretation of; plan time / mode of delivery (incl. TOP - fetal and neonatal risks (incl. where appropriate) consideration, where appropriate, tutorials - Doppler (umbilical artery (UA), middle cerebral artery refer to fetal medicine specialist where of TOP) (MCA), ductus venosus (DV)) appropriate for further counselling / - long term health implications for - amniotic fluid volume (AFV) management infant - cardiotocography (incl. computerized analysis) - recurrence risks and management Manage a case of LGA/macrosomia - biophysical profile plan for future pregnancy Management arrange appropriate investigations to identify cause - strategy for monitoring plan time / mode of delivery - timing / mode of delivery - management of FGR in pre-viable/extremely preterm fetus & in multiple pregnancy Outcome

- neonatal complications of SGA/LGA infant - long term health implications of fetal growth disorders

Advanced Training Skills Module – Fetal Medicine August 2010

16. Preconception counselling

Learning outcomes To be able to carry out preconception counselling of families at increased risk of fetal anomaly (including those with family history, prior anomaly, medical disorder or exposure to teratogenic drugs)

Knowledge criteria Clinical competency Professional skills and attitudes Training Evidence / support Assessment Preconception counselling Take an appropriate history Ability to take an appropriate history Observation of and Log of experience discussion with & competence - assessment of risk of fetal anomaly senior medical staff personal / family history of genetic disorder Counsel „at risk‟ woman/family pre-conception Abilty to Mini-CEX prior chromosomal disorder / advanced age risks of fetal anomaly assess risks of fetal anomaly prior structural anomaly screening / diagnostic options liaise with clinical geneticists, fetal medicine Sessions in Case-based current medical disorder e.g. diabetes refer, where appropriate, to clinical specialists, physicians, teratologists and clinical discussions teratogen exposure geneticist or fetal medicine specialist refer where appropriate genetics - investigations (incl. genetic testing) counsel women and their partners - methods of screening / diagnosis accordingly Personal study

- alternative options (incl. assisted conception / - screening / diagnostic options preimplantation diagnosis) - management plan for future pregnancy Teratogenicity

- mechanisms of teratogenicity - information sources (including National Teratology Centre) - teratogenetic effects of commonly used drugs incl: lithium warfarin anti-epileptic drugs ACE inhibitors anti-neoplastic drugs - teratogenic effects of radiological investigations

Advanced Training Skills Module – Fetal Medicine August 2010

Fetal Medicine

General Guidance

Below is a list of competencies expected to be achieved during this training module. These must be signed up by your supervisors. It is advised that you meet with your preceptor at the start of the post, At this meeting you should divide conditions into „likely to see‟, „may not see‟ and „unlikely to see‟ The clinical conditions expected to be seen must be signed up when clinical exposure has enabled the achievement of stipulated competence levels. Use other learning tools for „unlikely to see‟/rare events/conditions. Later in post, cover any residual „may not see‟ issues which you have not acquired expertise in through clinical exposure. For these cases sign up logbook using other methodologies (“OM”) in logbook. You must state and date the learning episode at which specific rare conditions were covered in the Other methodologies” table at the end of this log book.

Examples of “Other methodologies” acceptable for learning relatively uncommon clinical events/conditions include:

Case-based discussions (CBD) Mannequins Video/web e-learning resources For practical skills every effort must be made to back up theory-based methodologies with practical learning aids.

Competencies achieved in basic training can be applied to the ATSM. A trainee who has previously worked in a centre for management of a particular condition, and who undertakes his/her ATSM in a place with little exposure to that condition, should be able to apply their prior competency. However the ATSM preceptor should only accept this on verification that such prior competency was previously achieved. Where such exposure cannot be verified the trainee and preceptor should use “other methodologies” to ensure that such learning objective has been covered during this ATSM.

Advanced Training Skills Module – Fetal Medicine August 2010

Competence level Case Management Level 1 Level 2 Level 3 Date Signature Date Signature Date Signature CNS anomalies Anencephaly

Spina bifida

Ventriculomegaly

Choroid plexus cyst

Dandy Walker spectrum

Cardiac anomalies Septal defects

Hypoplastic heart

Outflow tract anomalies

Arrhythmia

Genitourinary anomalies Renal agenesis

Advanced Training Skills Module – Fetal Medicine August 2010

Competence level Case Management Level 1 Level 2 Level 3 Date Signature Date Signature Date Signature Hydronephrosis-renal pelvis ≤ 15mm

- renal pelvis > 15mm

Multicystic kidney

Megacystis/LUTO

Thoracic anomalies Cystic adenomatoid malformation

Diaphragmatic hernia

Pleural effusion

Abdominal wall and gastrointestinal anomalies Gastroschisis

Exomphalos

Echogenic bowel

Bowel atresia (incl.oesophageal / duodenal)

Ascites

Face and neck anomalies Nuchal oedema / increased nuchal translucency

Advanced Training Skills Module – Fetal Medicine August 2010

Competence level Case Management Level 1 Level 2 Level 3 Date Signature Date Signature Date Signature Cystic hygroma

Facial cleft

Skeletal anomalies Lethal skeletal dysplasia

Non-lethal skeletal dysplasia

Talipes

Limb reduction defect

Hydrops Immune hydrops

Non-immune hydrops

Multiple pregnancy Twins with discordant anomaly

Twins with growth discordance

Twin-to-twin transfusion syndrome

Disorders of amniotic fluid volume Oligohydramnios

Hydramnios

Advanced Training Skills Module – Fetal Medicine August 2010

Competence level Case Management Level 1 Level 2 Level 3 Date Signature Date Signature Date Signature Chromosomal anomalies Previous - trisomy

- sex chromosome aneuploidy

Affected fetus – trisomy 21

- trisomy 18/13

- 45X

-47XXX/47XXY

Genetic anomalies (Previous/family history/current) Cystic fibrosis

Muscular dystrophy

Fragile X

Haemoglobinopathy

Haemophilia / other bleeding disorder

Inborn error of metabolism

Advanced Training Skills Module – Fetal Medicine August 2010

Competence level Case Management Level 1 Level 2 Level 3 Date Signature Date Signature Date Signature Fetal growth disorders

Fetal growth restriction – singleton > 32 weeks

- singleton ≤ 32 weeks

Macrosomia

Alloimmunisation (non-transfusion dependent) Red cell alloimmunisation – anti-D, c

- anti-Kell

Advanced Training Skills Module – Fetal Medicine August 2010

Competence level Case Management Level 1 Level 2 Level 3 Date Signature Date Signature Date Signature 20 week anomaly scan

11-14 week anomaly scan (including NT)

Umbilical artery Doppler

Middle cerebal artery Doppler

Ductus venous Doppler

Biophysical profile

Ultrasound assessment of chorionicity

Amniocentesis

Chorion villus biopsy

Construction of family tree

Pre-conception counselling

Advanced Training Skills Module – Fetal Medicine August 2010

Uncommon clinical Other learning methodologies employed - Date Supervisor’s Name/Signature condition/procedure not seen/not Case-based discussions (CBD), undertaken. Mannequins, Video/web e-learning resource. You must specifiy and give details

Sessions attended Date Supervisors signature Fetal echocardiography clinic

Fetal echocardiography clinic

Clinical genetics clinic

Advanced Training Skills Module – Fetal Medicine August 2010

Sessions attended Date Supervisors signature Clinical genetics clinic

Clinical genetics clinic

Neonatal ward round / clinic

Fetal postmortem

Other sessions (list)

Cytogenetics Molecular genetics

Regional Fetal Medicine Unit

Advanced Training Skills Module – Fetal Medicine August 2010

Uncommon clinical Examples of other learning methodologies Date Supervisor’s Name/Signature condition/procedure not seen/not employed: undertaken. Case-based discussions (CBD) Mannequins Video/web e-learning resource You must specify and give details

Advanced Training Skills Module – Fetal Medicine August 2010

Written reports Date Supervisors signature

Audit Title Guideline Title

Training courses or sessions Title Signature of Educational Supervisor Date Fetal medicine theoretical course