Advanced Training Skills Module

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 abnormalties. They also require a sound working knowledge of clinical and laboratory genetics in order that they can investigate and, where appropriate, refer suitable families. Competency in ultrasound is a prerequisite for advanced skills in prenatal diagnosis and fetal medicine. A pre-requisite for starting the ATSM is possession of of all three of the obstetric RCOG/RCR ultrasound modules (Ultrasound & Screening in the First Trimester, Ultrasound of Fetal Anatomy and Ultrasound assessment of FEtal Size, Fetal Wellbeing & Placenta). Attendance at the annual “Fetal Medicine” Course run jointly by the RCOG & BMFMS 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 multidiscipliny 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 anomality • Be clinically competent at amniocentesis • 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 abnormalties • Be aware of their own clinical and professional limitations and 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

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Advanced Training Skills Module

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 trainee will be expected to attend at least 2 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 a audit relevant to the ATSM.

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Advanced Training Skills Module

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 Embryology brain & spinal development)

cord

(incl.

postnatal

Pathology / Epidemiology pathology of common major CNS anomalies incidence of CNS anomalies risk factors associated chromosomal anomalies Screening / diagnosis ultrasound appearance of normal embryonic/fetal CNS biometric measurements (incl. transcerebellar diameter, ventricular size, cisterna magna) ultrasound appearances of common CNS anomalies (incl. differential diagnosis) Management / outcome acrania / exencephaly / anencephaly spinal bifida encephalocele ventriculomegaly holoprosencephaly Recurrence risks / prevention

-

CNS anomalies Prevention of neural tube defect

Pharmacology

-

Folic acid

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Clinical competency

Professional skills and Attitudes

Training support

Evidence/ Assessment

Take an appropriate history

Ability to take an appropriate history

Perform an ultrasound scan to assess: • head shape, biometry • cavum, • thalami, cortex • ventricles, choroid plexus • cerebellum, cisterna magna

Ability to • perform detailed ultrasound assessment of fetal CNS • reach a differential diagnosis • perform and interpret appropriate investigations

Observation of and discussion with senior medical staff

Log of experience and competence

Be able • • • • • •

to diagnose the following: anencephaly / exencephaly spina bifida encephalocele ventriculomegaly (all degrees) holoprosencephaly Dandy Walker spectrum

Manage a case of neural tube defect, ventriculomegaly including: • counsel regarding fetal / infant risks (including long term health implications) • arrange / perform appropriate fetal & maternal investigations • refer to fetal medicine centre where appropriate for further counselling / management • discuss and offer termination if appropriate • provide appropriate support / follow up of ongoing pregnancy • plan delivery / appropriate neonatal support in collaboration with fetal medicine specialist / neonatologist

Ability to • liaise with fetal medicine specialists, neonatologists, paediatric neurologists and paediatric surgeons where appropriate (including appropriate referral for second opinion) • formulate, implement and where appropriate modify management plan • counsel women and their partners accordingly

-

fetal (and maternal) risks long term outcome postnatal or post mortem findings

recurrence risks • formulate management plan for future pregnancy in collaboration with specialists

• support parent(s)

Appropriate postgraduate courses e.g. Fetal Medicine Sessions in; • fetal medicine • neonatology • perinatal pathology Personal study

Mini-CEX Case-based discussions

Advanced Training Skills Module

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 Attitudes

Training support

Evidence/ Assessment

Embryology heart and cardiovascular system circulatory adaptations at birth

Take an appropriate history

Ability to take an appropriate history

Perform • • • •

Ability to • perform echocardiography (including Doppler) • reach a differential diagnosis

Observation of and discussion with senior medical staff

Log of experience and competence

Pathology / Epidemiology pathology of major cardiac anomalies incidence of major cardiac anomalies risk factors (incl. family history) associated chromosomal / genetic (incl. 22q deletions) anomalies Screening / diagnosis ultrasound appearance of normal fetal heart biometric measurements (incl. chamber sizes) ultrasound appearances of major cardiac anomalies (incl. differential diagnosis) Management / outcome septal defects hypoplastic heart syndromes outflow tract anomalies arrhythmia Recurrence risks cardiac anomalies

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echocardiography to assess: cardiac size, position atria & ventricles outflow tracts heart rate

Be able to diagnose the following: • atrioventricular and large ventricular septal defects) • major valvular abnormalities & hypoplastic heart (e.g. aortic / mitral atresia) • major outflow tract anomalies (e.g. transposition) • arrhythmia Manage a case of septal defect, hypoplastic heart including: • counsel regarding likely diagnosis and fetal / infant risks • arrange appropriate fetal & maternal investigations (incl. M-mode, Doppler echocardiography) • refer to fetal medicine centre where appropriate for further counselling / management • discuss and offer termination if appropriate • provide appropriate support / follow up of ongoing pregnancy • plan delivery / appropriate neonatal support in collaboration with fetal medicine specialist/paediatric cardiologist

Ability to • liaise with fetal medicine specialists, paediatric cardiologists and neonatologists (including appropriate referral for second opinion) • in collaboration with specialists, formulate, implement and where appropriate modify management plan • counsel women and their partners accordingly

-

fetal risks long term outcome postnatal or post mortem findings

recurrence risks • formulate management plan for future pregnancy in collaboration with specialists

• support parent(s)

Appropriate postgraduate courses e.g. Fetal Medicine Sessions in; • fetal medicine • neonatology • perinatal pathology • paediatric cardiology Personal study

Mini-CEX Case-based discussions

Advanced Training Skills Module

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 Attitudes

Training support

Evidence/ Assessment

Embryology genitor-urinary system (incl. physiology of fetal urinary system) functional adaptations after birth

Take an appropriate history

Ability to take an appropriate history

Perform ultrasound scan to assess: • renal size • renal parenchyma & collecting system • ureters & bladder • genitalia • liquor volume

Ability to • perform detailed ultrasound assessment of fetal GU system • reach a differential diagnosis

Observation of and discussion with senior medical staff

Log of experience and competence

Pathology / Epidemiology pathology of major GU anomalies incidence of GU anomalies risk factors associated chromosomal anomalies Screening / diagnosis ultrasound appearance of normal embryonic/fetal / neonatal urinary tract ultrasound appearances of GU anomalies (incl. differential diagnosis) biochemical measurement of fetal urine function Management / outcome renal agenesis renal cystic disease hydronephrosis

-

lower urinary tract obstruction

Recurrence risks GU anomalies

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Be able to diagnose the following:

• • • •

renal agenesis multicystic / dysplastic kidney pylectasis / hydronephrosis lower urinary tract obstruction

Manage a case of renal agenesis, multicystic / dysplastic kidney, hydronephrosis including: • counsel regarding fetal / infant risks (including long term health implications) • arrange / perform appropriate fetal and maternal investigations • refer to fetal medicine centre where appropriate for further counselling / management • discuss and offer termination if appropriate • provide appropriate support / follow up of ongoing pregnancy • plan delivery / appropriate neonatal support in collaboration with fetal medicine specialist/neonatologist

Ability to • liaise with fetal medicine specialists, neonatologists, paediatric nephrologists, paediatric surgeons where appropriate (including appropriate referral for second opinion) • formulate, implement and where appropriate modify management plan • counsel women and their partners accordingly

-

fetal risks long term outcome

postnatal or post mortem findings

recurrence risks • formulate management plan for future pregnancy in collaboration with specialists

• support parent(s)

Appropriate postgraduate courses e.g. Fetal Medicine Sessions in; • fetal medicine • neonatology • perinatal pathology • paediatric nephrology Personal study

Mini-CEX Case-based discussions

Advanced Training Skills Module

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 support

Evidence/ Assessment

Embryology Trachea, lungs & diaphragm functional adaptations after birth

Take an appropriate history

Ability to take an appropriate history

Perform ultrasound scan to assess: • chest size and shape • mediastinal shift • ribs • lung parenchyma • diaphragm

Ability to • perform detailed ultrasound assessment of fetal thorax • reach a differential diagnosis

Observation of and discussion with senior medical staff

Log of experience and competence

Pathology / Epidemiology pathology of pulmonary anomalies incidence of pulmonary anomalies associated chromosomal anomalies Screening / diagnosis ultrasound appearance of normal embryonic/fetal thorax ultrasound appearances of major pulmonary anomalies (incl. differential diagnosis) Management / outcome cystic adenomatoid malformation of lung (CAML) diaphragmatic hernia pleural effusion Recurrence risks major pulmonary anomalies

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Be able diagnose to the following: • CAML • diaphragmatic hernia • pleural effusion Manage a case of CAML, diaphragmatic hernia including: • counsel regarding fetal / infant risks • arrange appropriate fetal investigations • refer to fetal medicine centre for further counselling / management • discuss and offer termination if appropriate • provide appropriate support / follow up of ongoing pregnancy • plan delivery / appropriate neonatal support in collaboration with fetal medicine specialist / neonatologist / paediatric surgeon

Ability to • liaise with fetal medicine specialist, neonatologists, surgeons (including appropriate referral for second opinion) • in collaboration with specialists, formulate, implement and where appropriate modify management plan • counsel women and their partners accordingly

-

fetal risks long term outcome postnatal or post mortem findings recurrence risks

• formulate management plan for future pregnancy in collaboration with specialists

support parent(s)

Appropriate postgraduate courses e.g. Fetal Medicine

Sessions in; • fetal medicine • neonatology • paediatric surgery • perinatal pathology Personal study

Mini-CEX Case-based discussions

Advanced Training Skills Module

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 support

Evidence/ Assessment

Embryology Abdominal wall Gastrointestinal tract

Take an appropriate history

Ability to take an appropriate history

Perform ultrasound scan to assess: • abdominal shape & biometry • abdominal wall / cord insertion • stomach, small & large bowel • liver, gallbladder • intrahepatic vein & ductus venosus

Ability to • perform detailed ultrasound assessment of fetal AW and GI tract • reach a differential diagnosis • perform and interpret appropriate investigations

Observation of and discussion with senior medical staff

Log of experience and competence

Be able to diagnose the following: • gastroschisis / body wall defect • umbilical hernia / exomphalos • absent / enlarged stomach • bowel atresia • echogenic bowel • ascites

Ability to • formulate, implement and where appropriate modify management plan • liaise with fetal medicine specialists, neonatologists, paediatric surgeons (including appropriate referral for second opinion) • counsel women and their partners accordingly

Pathology / Epidemiology pathology of AW and GI anomalies incidence of AW and GI anomalies risk factors associated chromosomal anomalies Screening / diagnosis ultrasound appearance of normal embryonic/fetal AW and GI tract ultrasound appearances of AW and GI anomalies (incl. differential diagnosis) Management / outcome gastroschisis umbilical hernia / exomphalos bowel atresia (incl. oesophageal & duodenal atresia) echogenic bowel Recurrence risks major AW and GI anomalies

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Manage a case of AW defect, bowel atresia, echogenic bowel including: • counsel regarding fetal / infant risks (including long term health implications) • arrange / perform appropriate fetal investigations • refer to fetal medicine centre where appropriate for further counselling / management • discuss and offer termination if appropriate • provide appropriate support / follow up of ongoing pregnancy • plan delivery / appropriate neonatal support in collaboration with fetal medicine specialist / paediatric surgeon

-

fetal risks long term outcome

postnatal or post mortem findings recurrence risks

• formulate management plan for future pregnancy in collaboration with specialists

• support parent(s)

Appropriate postgraduate courses e.g. Fetal Medicine Sessions in; • fetal medicine • neonatology • paediatric surgery • perinatal pathology Personal study

Mini-CEX Case-based discussions

Advanced Training Skills Module

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 support

Evidence/ Assessment

Embryology Fetal face Fetal neck

Take an appropriate history

Ability to take an appropriate history

Perform ultrasound scan to assess: • head shape & biometry (incl. orbital diameters) • face and palate • neck

Ability to • perform detailed ultrasound assessment of fetal neck & face • reach a differential diagnosis • perform and interpret appropriate investigations

Observation of and discussion with senior medical staff

Log of experience and competence

Pathology / Epidemiology pathology of neck and facial anomalies incidence of neck and facial anomalies risk factors associated chromosomal anomalies Screening / diagnosis ultrasound appearance of normal fetal neck and face ultrasound appearances of neck and facial anomalies (incl. differential diagnosis) Management / outcome cystic hygroma facial cleft micrognathia Recurrence risks Neck and facial anomalies

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Be able to diagnose the following: • cystic hygroma • facial cleft • micrognathia Manage a case of cystic hygroma, facial cleft including: • counsel regarding fetal / infant risks (including long term health implications) • arrange / perform appropriate fetal investigations • refer to fetal medicine centre where appropriate for further counselling / management • discuss and offer termination if appropriate • provide appropriate support / follow up of ongoing pregnancy • plan delivery / appropriate neonatal support in collaboration with the fetal medicine specialist / cleft team

Ability to • liaise with fetal medicine specialists, facial cleft team, neonatologists, paediatric surgeons, facial cleft team (including appropriate referral for second opinion) • in collaboration with specialists, formulate, implement and where appropriate modify management plan • counsel women and their partners accordingly

-

fetal risks long term outcome postnatal or post mortem findings recurrence risks

• formulate management plan for future pregnancy in collaboration with specialists

• support parent(s)

Appropriate postgraduate courses e.g. Fetal Medicine Sessions in; • fetal medicine • neonatology • paediatric surgery • perinatal pathology Personal study

Mini-CEX Case-based discussions

Advanced Training Skills Module

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 Attitudes

Training support

Evidence/ Assessment

Embryology Fetal skeleton and spine

Take an appropriate history

Ability to take an appropriate history

Perform ultrasound scan to assess: • long bone shape & biometry • ribs & spine • mineralisation of skeleton • feet and hands • joints • fetal tone and movements

Ability to • perform detailed ultrasound assessment of fetal skeleton • reach a differential diagnosis

Observation of and discussion with senior medical staff

Log of experience and competence

Pathology / Epidemiology pathology of skeletal anomalies incidence of skeletal anomalies associated chromosomal anomalies Screening / diagnosis ultrasound appearance of normal fetal skeleton ultrasound appearances of skeletal anomalies (incl. differential diagnosis) Management / outcome lethal skeletal dysplasias (incl. thanatophoric dysplasia, achondrogenesis, osteogenesis imperfecta) achondroplasia talipes limb reduction defect polydactyly Recurrence risks Skeletal anomalies

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Be able to diagnose the following: • micromelia (due to lethal and non-lethal dysplasias) • limb reduction defect • talipes • polydactyly Manage a case of lethal skeletal dysplasia, limb reduction defect, talipes including: • counsel regarding likely fetal diagnosis and fetal / infant risks • arrange appropriate fetal & maternal investigations • refer to fetal medicine centre where appropriate for further counselling / management • discuss and offer termination if appropriate • provide appropriate support / follow up of ongoing pregnancy • plan delivery / appropriate neonatal support in collaboration with fetal medicine specialist / neonatologist

Ability to • liaise with fetal medicine specialists, geneticists, neonatologists, orthopaedic surgeons where appropriate (including appropriate referral for second opinion) • in collaboration with specialists, formulate, implement and where appropriate modify management plan • counsel women and their partners accordingly

-

fetal risks long term outcome

postnatal or post mortem findings

recurrence risks • formulate management plan for future pregnancy

• support parent(s)

Appropriate postgraduate courses e.g. Fetal Medicine

Sessions in; • fetal medicine • neonatology • paediatric surgery • perinatal pathology Personal study

Mini-CEX Case-based discussions

Advanced Training Skills Module

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 Attitudes

Training support

Evidence/ Assessment

Pathology / Epidemiology pathology of fetal hydrops (incl. immune and non-immune causes) incidence of fetal hydrops risk factors associated chromosomal / genetic / syndromic anomalies

Take an appropriate history

Ability to take an appropriate history

Perform ultrasound scan to assess: • cause of hydrops (incl. echocardiography and middle cerebral artery Doppler • severity of hydrops (incl. amniotic fluid volume • fetal condition

Ability to • perform detailed ultrasound assessment of fetal hydrops • reach a differential diagnosis

Observation of and discussion with senior medical staff

Log of experience and competence

Diagnosis ultrasound appearance of fetal hydrops (incl. differential diagnosis) role of, echocardiography (see 3.2), MCA doppler and fetal blood sampling Management / outcome

-

red cell alloimmunisation cardiac arrhymthmias fetal infection other non-immune causes of hydrops

Recurrence risks immune and non-immune hydrops

Be able to diagnose the following: • immune hydrops (see also 4.8) • non-immune hydrops Manage a case of fetal hydrops including: • counsel regarding fetal / infant risks • arrange appropriate fetal and maternal investigations • refer to fetal medicine centre for further counselling / management • discuss and offer termination if appropriate • provide appropriate support / follow up of ongoing pregnancy • plan delivery / appropriate neonatal support in collaboration with fetal medicine specialist / neonatologist

Ability to • liaise with fetal medicine specialists, and neonatologists (including referral for second opinion) • in collaboration with specialists, formulate, implement and where appropriate modify management plan • counsel women and their partners accordingly

-

fetal risks maternal risks long term outcome postnatal or post mortem findings

recurrence risks • formulate management plan for future pregnancy in collaboration with specialists

• support parent(s)

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Appropriate postgraduate courses e.g. Fetal Medicine Sessions in; • fetal medicine • genetics • neonatology • perinatal pathology Personal study

Mini-CEX Case-based discussions

Advanced Training Skills Module

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 Attitudes

Training support

Evidence/ Assessment

Embryology mono- & di-zygous twinning placentation – chorionicity / amnionicity

Take an appropriate history

Ability to take an appropriate history

Perform ultrasound scan in multiple pregnancy to assess: • chorionicity and amnionicity • fetal anatomy • fetal growth (see 4.3)

Ability to • perform detailed ultrasound assessment of a multiple pregnancy with a fetal anomaly or discordant growth • reach a differential diagnosis

Observation of and discussion with senior medical staff

Log of experience and competence

Pathology / Epidemiology pathology of abnormalities related to twinning and twin placentation (incl. twin-to-twin transfusion syndrome [TTTS], twin reversed arterial perfusion [TRAP] and conjoining. incidence of abnormalities related to twinning risk factors for twinning and related anomalies Screening / diagnosis ultrasound determination of zygosity / chorionicity chorionicity and amnionicity ultrasound appearances of abnormalities related to twinning (incl. differential diagnosis) Management / outcome Triplet & higher order multiple pregnancy Discordant anomalies in multiples TRAP sequence Conjoined twins TTTS

-

Discordant fetal growth

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Be able to diagnose the following: • Multiple pregnancy with discordant fetal abnormality • Multiple pregnancy with discordant fetal growth • TRAP sequence • Conjoined twin • TTTS Manage a case of multiple pregnancy with fetal abnormality/ TTS including: • counsel regarding fetal / infant risks (incl. selective feticide, amnio reduction & laser ablation) • arrange / perform appropriate fetal and maternal investigations • refer to fetal medicine centre where appropriate for further counselling / management • provide appropriate support / follow up of ongoing pregnancy • plan delivery / appropriate neonatal support in collaboration with fetal medicine specialist / neonatologist

Ability to • liaise with fetal medicine subspecialists, neonatologists where appropriate (including appropriate referral for second opinion) • in collaboration with specialists, formulate, implement and where appropriate modify management plan • counsel women and their partners accordingly

-

-

•

fetal risks (incl. invasive procedures) neonatal management long term outcome postnatal or post mortem findings

delivery support parent(s)

Appropriate postgraduate courses e.g. Fetal Medicine Sessions in; • fetal medicine • neonatology • perinatal pathology Personal study

Mini-CEX Case-based discussions

Advanced Training Skills Module

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 Attitudes

Training support

Evidence/ Assessment

Embryology / Physiology placenta and membranes formation / function of amniotic fluid

Take an appropriate history

Ability to take an appropriate history

Perform ultrasound scan to assess AF volume

Log of experience and competence

Pathology / Epidemiology pathology of disorders of AF (incl. secondary effects of early amnion rupture & oligohydramnios) incidence of AF disorders risk factors associated chromosomal anomalies

Be able to diagnose and identify cause of: • oligo/an-hydramnios (incl ROM, renal anomaly, FGR, postmaturity. • Hydramnios (incl. GI anomaly, neuromuscular anomaly, maternal diabetes)

Ability to • perform detailed ultrasound assessment of AF • reach a differential diagnosis • perform and interpret appropriate investigations

Observation of and discussion with senior medical staff

Diagnosis ultrasound measurement of AF diagnosis of oligohydramnios and hydramnios (incl. differential diagnosis) Management / outcome oligo/an-hydramnios hydramnios

-

indications for / risks of: • amnioinfusion (see 3.3) • amnioreduction

Pharmacology prostaglandin synthase inhibitors

Manage a case of oligo/an-hydramnios including: • counsel regarding fetal / infant risks • arrange / perform appropriate fetal investigations

• • •

Manage a case of hydramnios including • counsel regarding fetal/infant risks (incl. preterm delivery) • arrange / perform appropriate fetal & maternal investigations • refer to fetal medicine centre where appropriate for further counselling

• • •

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institute appropriate maternal and fetal monitoring

refer to fetal medicine where appropriate for further counselling /management plan delivery / appropriate neonatal support in collaboration with fetal medicine specialist

institute appropriate maternal and fetal monitoring institute, where appropriate, maternal medical therapy

plan delivery / appropriate neonatal support in collaboration with fetal medicine specialist

Ability to • liaise with fetal medicine specialists, neonatologists where appropriate (including appropriate referral for second opinion) • in collaboration with specialists formulate, implement and where appropriate modify management plan • counsel women and their partners accordingly

-

fetal and neonatal risks maternal risks postnatal or post mortem findings

recurrence risks • support parent(s)

Appropriate postgraduate courses e.g. Fetal Medicine Sessions in; • fetal medicine • neonatology • genetics • perinatal pathology Personal study

Mini-CEX Case-based discussions

Advanced Training Skills Module

11. Termination of pregnancy Learning Outcomes To be able to carry out counselling and management of families undergoing TOP for fetal anomaly

Knowledge criteria Law / Ethics abortion law ethics issues relating to TOP for fetal anomaly guidance on use of feticide Epidemiology incidence of & indications for TOP for fetal anomaly rates of TOP for fetal anomalies and factors influencing decision Pathology consent for post-mortem (& tissue retention) conduct of post-mortem examination Management (incl. methods, complications) medical TOP surgical TOP (incl. suction aspiration and dilatation & evacuation) feticide impact of gestational age on complications (physical and psychological) Pharmacology mifepristone prostaglandin analogues (incl. cervagem, misoprostol [see 4.1] potassium chloride Bereavement Process and milestones Management

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Clinical competency

Professional skills and Attitudes

Manage a case of major fetal anomaly: • counsel regarding: - risk / impact of handicap associated with anomaly - feticide - methods of TOP (medical & surgical) - complications of TOP - post-mortem - aftercare • plan TOP and post-TOP care • arrange appropriate fetal (and maternal) investigations incl. post-mortem • refer, where appropriate, for further counselling conduct post-TOP counselling • • refer to fetal medicine specialist for feticide

Ability to: • reach a definitive diagnosis of major fetal anomaly (where possible) • assess risks of death and/or handicap • counsel women and their partners regarding: risks of death / handicap option of TOP ± feticide

Perform: • medical TOP or refer, where appropriate, for same • vacuum aspiration and dilatation / evacuation or refer, where appropriate, for same • supportive counselling • post-TOP counselling incl: postmorterm findings (where appropriate) recurrence risks management plan for future pregnancy

Ability to • formulate, implement and where appropriate modify management plan for TOP (incl. post-TOP review) • liaise with fetal medicine specialists, midwives, neonatologists and pathologists where appropriate • counsel women and their partners accordingly;

-

procedure & risks of TOP post-mortem

• support women and their partners • refer, where appropriate, for further counselling / support

Training support

Evidence/ Assessment

Observation of and discussion with senior medical staff

Log of experience and competence

Appropriate postgraduate courses e.g. Fetal Medicine Sessions in: • fetal medicine • perinatal pathology • genetics RCOG Guidance of Late TOP for Fetal Anomaly Personal study

Mini-CEX Case-based discussions

Advanced Training Skills Module

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 Attitudes

Training support

Evidence/ Assessment

Genetics gene structure & function • DNA as genetic material • replication, transcription & translation • mechanisms & effects of mutation inheritance & susceptibility • patterns of inheritance of single genes • genetic heterogeneity (locus & allele) • new mutations causing single gene disorder • expression & penetrance • multifactorial inheritance (incl. summation / interaction gene effects, polymorphisms) • mitochondrial inheritance

Take an appropriate history and construct, where appropriate, a family tree in patients with or at risk of genetic disease.

Ability to identify patients with, or at risk of a genetic condition

Observation of and discussion with senior medical staff

Log of experience and competence

Service & Laboratory aspects organisation & role of Clinical Genetics Services DNA testing in clinical practice • ethical & societal issues • diagnostic, predictive & carrier testing • uses & limitations • diagnostic pitfalls indications, methods and limitations (incl. failure / error rates) of: • cytogenetics • FISH • Mutation detection / PCR • Gene tracking using RFLPs

Manage a case with a personal / family history of: • genetic disease (incl. cystic fibrosis, muscular dystrophy, haemoglobinopathy, haemophilia) including: • counsel about: risk and impact of disease information sources & support groups prenatal diagnostic options (incl. risks timing of tests / results, accuracy) management options after testing (incl. termination of pregnancy) • refer to Clinical Geneticist or fetal medicine centre for further specialist and/or genetic counselling / management • plan care of ongoing pregnancy / delivery in collaboration with fetal medicine specialist / geneticist

Ability to • liaise with and refer to clinical geneticist, fetal medicine specialist, and associated laboratory disciplines (incl. cyto- and molecular genetics) • in collaboration with clinical geneticists and other specialists, formulate, implement and where appropriate modify management plan • counsel women and their partners about; -

genetics in an understandable & non-directive way fetal risks prenatal screening / diagnostic options (incl. limitations of tests)

treatment, management reproductive options • in collaboration with specialists, formulate management plan for ongoing and future pregnancies

• support parent(s) • respect confidentiality Ability to use genetic testing appropriately

09/02/2007

Appropriate postgraduate courses e.g. Fetal Medicine Sessions in; • fetal medicine • genetics • laboratory specialties (incl. cyto- / molecular genetics • neonatology • perinatal pathology Personal study

Mini-CEX Case-based discussions

Advanced Training Skills Module

Knowledge criteria

Clinical competency

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

Perform: • detailed ultrasound: at appropriate gestation using appropriate technique (incl. transvaginal, Doppler) • amniocentesis

Single gene defects epidemiology & inheritance effects of mutation & associated pathology clinical / pathological features prognosis recurrence risks prenatal diagnosis of the following defects:

• • • •

cystic fibrosis muscular dystrophy haemoglobinopathies haemophilias

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Professional skills and Attitudes

Training support

Evidence/ Assessment

Advanced Training Skills Module

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 to appropriate counselling and management of rarer cytogenetic anomalies including translocations, markers and mosacism.

Knowledge criteria

Clinical competency

Professional skills and Attitudes

Training support

Evidence/ Assessment

Chromosomes structure & function (see 3.2/3.3) cell division types of abnormality (incl. structural rearrangements, trisomies, sex chromosome anomalies, extra markers, mosaicism) Screening / diagnosis biochemical markers (incl. AFP, uE3, hCG, PAPP-A, inhibin-A) ultrasound markers • 11-14 weeks (incl. nuchal translucency, nasal bone, ductus venosus Doppler, tricuspid regurgitation) • 18-21 weeks (incl. nuchal oedema, clinodactyly, echogenic bowel, pyelectasis, choroid plexus cysts, nasal bone, short femur/humerus) Likelihood ratios & risk calculation screening strategies • accuracy (incl. detection rate, false positive rate) • service / cost implications laboratory diagnosis (incl. methods, failure / error rates) • cytogenetic analysis • FISH • PCR

Take an appropriate history

Ability to take an appropriate history

Observation of and discussion with senior medical staff

Log of experience and competence

09/02/2007

Manage a case with a personal / family history of a chromosomal anomaly (incl. structural alterations) including: • counsel about: risk and impact of anomaly prenatal diagnostic options management options after testing • arrange appropriate fetal & parental investigations • refer where appropriate for further specialist and/or genetic counselling / management • plan subsequent care of ongoing pregnancy Counsel women about screening for / diagnosis of chromosomal anomalies in pregnancy including: • screening options (biochemistry & ultrasound) • diagnostic tests (incl. laboratory methods, risks, accuracy and timing of results) Manage a case of chromosomal anomaly diagnosed in pregnancy including; • counsel about fetal / infant risks and long term outcome of the following anomalies: trisomy 21 (Down syndrome) trisomy 18 (Edward syndrome) trisomy 13 (Patau syndrome) 45X (Turner syndrome)

Ability to; • counsel women and partners before screening test after positive result • formulate, implement and where appropriate modify management plan in a woman at ‘higher’ risk of chromosomal anomaly Ability to • formulate, implement and where appropriate modify management plan in a case with a chromosomal anomaly • liaise with fetal medicine specialist, clinical geneticist and cytogenetics and refer where appropriate. • counsel women and their partners about; fetal risks prenatal screening / diagnostic options (incl. limitations of tests) reproductive options

Appropriate postgraduate courses e.g. Fetal Medicine Sessions in; • fetal medicine • genetics • laboratory specialties (incl. cyto- / molecular genetics, serum screening) • neonatology • paediatric surgery • perinatal pathology Personal study

Mini-CEX Case-based discussions

Advanced Training Skills Module

Knowledge criteria -

mosaicism (incl. classification and management) principles & organisation of screening / diagnostic programme for chromosomal anomalies • National Screening Committee • role of regional screening coordinators • quality control & audit

Chromosomal anomalies epidemiology pathology clinical / pathological features prognosis recurrence risks prenatal diagnosis of the following chromosomal anomalies

• • • • • • •

trisomy 21 trisomy 18 trisomy 13 Turner syndrome Kleinfelter syndrome XXX triploidy

09/02/2007

Clinical competency -

triploidy common sex chromosome anomalies (incl. 47XXY (Kleinfelter syndrome), 47XXX) • counsel about management options (incl. TOP) • refer where appropriate for further counselling / support • plan care of ongoing pregnancy / delivery Perform: • Ultrasound screening for chromosomal anomaly at: 10-14 wk including: • nuchal translucency 18-21 wk including: • nuchal oedema • echogenic bowel • ventriculomegaly • major structural defect • risk calculation for trisomy 21 based on ultrasound (+/- biochemical) markers • amniocentesis

Professional skills and Attitudes

Training support

• formulate management plan for ongoing and future pregnancies • support parent(s) • respect confidentiality

National Screening Committee Guidance on Down syndrome screening

Ability to use chromosomal testing appropriately

RCOG Guideline No 8 Amniocentesis and chorion villus sampling

Evidence/ Assessment

Advanced Training Skills Module

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 attitudes

Training support

Evidence / Assessment

Blood group systems / pathophysiology

Take an appropriate obstetric history • past obstetric history • timing / method of sensitisation

Ability to take an appropriate history

Observation of and discussion with senior medical staff

Log of experience & competence

Appropriate postgraduate courses

Mini-CEX

rhesus (incl. gene structure and prediction of genotype) other red cell antigens causing HDN fetal pathology in HDN Epidemiology incidence (alloimmunisation & complications) risk factors (sensitizing events) Laboratory methods -

Antibody detection (antiglobulin tests) Kleihauer testing / flow cytometry for FMH fetomaternal haemorrhage (FMH) DNA analysis (incl. use of fetal DNA in maternal plasma) Prevention -

FMH organisation & effectiveness of screening and prevention programmes Management screening and diagnosis fetal anaemia (incl. MCA Doppler) hydrops Outcome -

Neonatal complications of HDN (incl. hyperbilirubinaemia, anaemia) Management of complications (incl. exchange transfusion) Pharmacology -

Anti-D immunoglobulin

09/02/2007

Manage a case of red cell alloimmunisation • institute appropriate maternal and fetal monitoring • assess risk of fetal anaemia (incl. perform & interpret MCA Doppler) • refer to fetal medicine specialist where appropriate, for further counselling / management • plan mode / place / timing of delivery in collaboration with specialists

Ability to; • perform and interpret appropriate investigations in fetus at risk of haemolytic anaemia (incl. MCA Doppler) • liaise with fetal medicine specialists, neonatologists and laboratory (haematology/blood transfusion) • in collaboration with fetal medicine specialists, formulate, implement and where appropriate modify a management plan for a woman with red cell antibodies • counsel women and their partners accordingly prevention of alloimmunisation fetal / neonatal risks of red cell antibodies recurrence risks and management plan for future pregnancy

Attachments: • fetal medicine • neonatology Personal study RCOG Guideline No22 Anti-D immunoglobulin for rhesus prophylaxis

Case-based discussions

Advanced Training Skills Module

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 support

Evidence / Assessment

Fetal growth

Take an appropriate history and perform an exam to screen for fetal growth disorders (incl. use of customized growth chart)

Ability to take an appropriate history and conduct an examination to assess fetal size

Observation of and discussion with senior medical staff

Log of experience & competence

pattern (incl. organ-specific growth) causes (incl. fetal, placental & maternal factors) Definitions small for gestational age (SGA) / FGR large for gestational age (LGA) / macrosomia Screening / diagnosis -

previous history clinical exam (incl. symphysis fundal distance) ultrasound morphometry – basic and derived measurements (incl. estimated fetal weight) customised growth charts Tests of fetal wellbeing Technique, indications for & interpretation of; -

Doppler (umbilical artery (UA), middle cerebral artery (MCA), ductus venosus (DV)) amniotic fluid volume (AFV) cardiotocography (incl. computerized analysis) biophysical profile Management -

strategy for monitoring 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

09/02/2007

Perform and interpret the following; • ultrasound morphometry • umbilical artery Doppler • middle cerebral artery Doppler • ductus venosus Doppler • biophysical profile (incl. AFV, CTG) Manage a case of SGA /FGR • arrange appropriate investigations to identify cause • institute appropriate monitoring • plan time / mode of delivery (incl. TOP where appropriate) • refer to fetal medicine specialist where appropriate for further counselling / management Manage a case of LGA/macrosomia • arrange appropriate investigations to identify cause • plan time / mode of delivery

Abilty to • perform and interpret ultrasound in fetus with suspected growth disorder • formulate, implement and where appropriate modify a management plan • liaise where appropriate with fetal medicine specialists, neonatologists (incl. appropriate referral for second opinion) • counsel women and their partners accordingly fetal and neonatal risks (incl. consideration, where appropriate, of TOP) long term health implications for infant recurrence risks and management plan for future pregnancy

Sessions in • fetal medicine • neonatology Personal study RCOG Guideline No 31 Small-forgestational age fetus

Mini-CEX

Advanced Training Skills Module

16.

Preconception counselling

Learning Outcomes

To be able to carry out preconception counselling in 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 support

Evidence / Assessment

Preconception counselling

Take an appropriate history

Ability to take an appropriate history

Counsel ‘at risk’ woman/family preconception • risks of fetal anomaly • screening / diagnostic options • refer, where appropriate, to clinical geneticist or fetal medicine specialist

Abilty to • assess risks of fetal anomaly • liaise with clinical geneticists, fetal medicine specialists, physicians, teratologists and refer where appropriate • counsel women and their partners accordingly screening / diagnostic options management plan for future pregnancy

Observation of and discussion with senior medical staff

Log of experience & competence

Sessions in • clinical genetics

Case-based discussions

-

-

assessment of risk of fetal anomaly • personal / family history of genetic disorder • prior chromosomal disorder / advanced age • prior structural anomaly • current medical disorder e.g. diabetes • teratogen exposure investigations (incl. genetic testing) methods of screening / diagnosis alternative options (incl. assisted conception / preimplantation diagnosis)

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

09/02/2007

Personal study

Mini-CEX

Advanced Training Skills Module

Skill : Case Management

Competence Level Date

CNS anomalies Anencephaly Spina bifida Ventriculomegaly Choroid plexus cyst Dandy Walker spectrum Cardiac anomalies Septal defects Hypoplastic heart Outflow tract anomalies

09/02/2007

Observation

Direct Supervision

Signature

Date

Signature

Independent Practice Date

Signature

Advanced Training Skills Module

Arrhythmia Genitourinary anomalies Renal agenesis 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

09/02/2007

Advanced Training Skills Module

Bowel atresia (incl.oesophageal / duodenal) Ascites Face and neck anomalies Nuchal oedema / increased nuchal translucency 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

09/02/2007

Advanced Training Skills Module

Twins with discordant anamaly Twins with growth discordance Twin-to-twin transfusion syndrome Disorders of amniotic fluid volume Oligohydramnios Hydramnios 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

09/02/2007

Advanced Training Skills Module

Haemphilia / other bleeding disorder Inborn error of metabolism 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

Procedures Procedures 20 weekly anomaly scan 11-14 week anomaly scan (including NT) Umbilical artery Doppler Middle cerebal artery Doppler

09/02/2007

Observed

Performed Under supervision

Performed independently

Advanced Training Skills Module

Ductus venous Doppler Biophysical profile Ultrasound assessment of chorionicity Amniocentesis Construction of family tree Pre-conception counselling

Sessions Attended Fetal echocardiography clinic Fetal echocardiography clinic Fetal echocardiography clinic Fetal echocardiography clinic Clinical genetics clinic Clinical genetics clinic Clinical genetics clinic Clinical genetics clinic Neonatal ward round / clinic Neonatal ward round / clinic Neonatal ward round / clinic

09/02/2007

Date

Supervisors signature

Advanced Training Skills Module

Neonatal ward round / clinic Fetal postmortem Fetal postmortem Other sessions (list) Cytogenetics Molecular genetics

Regional Fetal Medicine Unit Regional Fetal Medicine Unit

Written reports Audit Title Guideline Title

09/02/2007

Date

Supervisors signature

Advanced Training Skills Module

Training Courses or sessions Title

Signature of educational supervisor

Authorisation of Signatures – please print your name and sign below Name (please print)

09/02/2007

Signature

Date

Advanced Training Skills Module

Completion of Module I confirm that all components of the module have been successfully completed

Date Name of Educational Superviser Signature of Educational Superviser

09/02/2007