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Advanced Training Skills Module – Fetal Medicine August 2010

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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

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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.


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1. CNS anomalies

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

Knowledge criteria Clinical competency Professional skills and Attitudes

Training support

Evidence/ Assessment

Embryology

- brain & spinal cord (incl. postnatal development) 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

Take an appropriate history Perform an ultrasound scan to assess:

head shape, biometry

cavum,

thalami, cortex

ventricles, choroid plexus

cerebellum, cisterna magna 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:

-counselling 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 take an appropriate history Ability to:

-perform detailed ultrasound assessment of fetal CNS

-reach a differential diagnosis

-perform and interpret appropriate investigations

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)

Observation of and discussion with senior medical staff Appropriate postgraduate courses e.g. Fetal Medicine Sessions in;

-fetal medicine

-neonatology

-perinatal pathology

Personal study

Log of experience and competence Mini-CEX Case-based discussions


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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


Training support


Embryology

- heart and cardiovascular system

- circulatory adaptations at birth 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

Take an appropriate history Perform 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)


-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


-perform echocardiography (including Doppler)

-reach a differential diagnosis 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 on:

- -fetal risks



- recurrence risks


support parent(s)


-fetal medicine

-neonatology


-paediatric cardiology

Personal study

Log of experience and competence Mini-CEX

Case-based discussions


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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


Training support


Embryology

- genitor-urinary system (incl. physiology of fetal urinary system)

- functional adaptations after birth Pathology / Epidemiology

- pathology of major GU anomalies

- incidence of GU anomalies

- risk factors


- 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

Take an appropriate history Perform ultrasound scan to assess:

-renal size

-renal parenchyma & collecting system

ureters & bladder

-genitalia

-liquor volume 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


-perform detailed ultrasound assessment of fetal GU system


-liaise with fetal medicine specialists, neonatologists, paediatric nephrologists, paediatric surgeons where appropriate (including appropriate referral for second opinion)


-counsel women and their partners accordingly

- -fetal risks



- -recurrence risks


-support parent(s)


-fetal medicine

-neonatology


-paediatric nephrology

Personal study



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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


Embryology

- Trachea, lungs & diaphragm

- functional adaptations after birth Pathology / Epidemiology

- Pathology of pulmonary anomalies

- Incidence of pulmonary anomalies


- 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


-chest size and shape

-mediastinal shift

-ribs

-lung parenchyma

-diaphragm 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


provide appropriate support / follow up of ongoing pregnancy

-plan delivery / appropriate neonatal support in collaboration with fetal medicine specialist / neonatologist / paediatric surgeon


-perform detailed ultrasound assessment of fetal thorax


-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


- -fetal risks

- -Long term outcome


- -recurrence risks


-support parent(s)


-fetal medicine

-neonatology

-paediatric surgery


Personal study



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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



Embryology

- Abdominal wall

- Gastrointestinal tract 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)


- Gastroschisis

- umbilical hernia / exomphalos

- Bowel atresia (incl. oesophageal & duodenal atresia)

- echogenic bowel

Recurrence risks

- Major AW and GI anomalies


-Abdominal shape & biometry

-Abdominal wall / cord insertion

-Stomach, small & large bowel

liver, gallbladder

-Intrahepatic vein & ductus venosus Be able to diagnose the following:

Gastroschisis / body wall defect

Umbilical hernia / exomphalos

Absent / enlarged stomach

-bowel atresia

-echogenic bowel

-ascites Manage a case of AW defect, bowel atresia, echogenic bowel including:


-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


-perform detailed ultrasound assessment of fetal AW and GI tract


-perform and interpret appropriate investigations

Ability to:


-liaise with fetal medicine specialists, neonatologists, paediatric surgeons (including appropriate referral for second opinion)


- -fetal risks



- -recurrence risks


-support parent(s)


-fetal medicine

-neonatology

-paediatric surgery

-perinatal

-pathology Personal study



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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



Embryology

- Fetal face

- Fetal neck 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)


- Cystic hygroma

- Facial cleft

- Micrognathia

Recurrence risks

- Neck and facial anomalies


-head shape & biometry (incl. orbital diameters)

-face and palate

-neck Be able to diagnose the following:

-cystic hygroma

-facial cleft

-micrognathia Manage a case of cystic hygroma, facial cleft including:





provide appropriate support / follow up of ongoing pregnancy

-plan delivery / appropriate neonatal support in collaboration with the fetal medicine specialist / cleft team


-perform detailed ultrasound assessment of fetal neck & face


-perform and interpret appropriate investigations Ability to:

-liaise with fetal medicine specialists, facial cleft team, neonatologists, paediatric surgeons, facial cleft team (including appropriate referral for second opinion)



- -fetal risks



- -recurrence risks


-support parent(s)


-fetal medicine

-neonatology

-paediatric surgery


Personal study



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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


Training support


Embryology

- Fetal skeleton and spine Pathology / Epidemiology

- Pathology of skeletal anomalies

- incidence of skeletal anomalies


- Ultrasound appearance of normal fetal skeleton

- Ultrasound appearances of skeletal anomalies (incl. differential diagnosis)


- Lethal skeletal dysplasias (incl. thanatophoric dysplasia, achondrogenesis, osteogenesis imperfecta)

- Achondroplasia

- Talipes

- Limb reduction defect

- Polydactyly

Recurrence risks

- Skeletal anomalies


-long bone shape & biometry

-ribs & spine

-mineralisation of skeleton

-feet and hands

-joints

-fetal tone and movements 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



-perform detailed ultrasound assessment of fetal skeleton


-liaise with fetal medicine specialists, geneticists, neonatologists, orthopaedic surgeons where appropriate (including appropriate referral for second opinion)



- -fetal risks



- -recurrence risks

-formulate management plan for future pregnancy

-support parent(s)


-fetal medicine

-neonatology

-paediatric surgery


Personal study



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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


Training support


Pathology / Epidemiology

- Pathology of fetal hydrops (incl. immune and non-immune causes)

- Incidence of fetal hydrops

- Risk factors

- Associated chromosomal / genetic / syndromic anomalies

Diagnosis

- Ultrasound appearance of fetal hydrops (incl. differential diagnosis)

- Role of, echocardiography (see 3.2), MCA Doppler and fetal blood sampling


- Red cell alloimmunisation

- Cardiac arrhymthmias

- Fetal infection

- Other non-immune causes of hydrops

Recurrence risks

- Immune and non-immune hydrops


-Cause of hydrops (incl. echocardiography and middle cerebral artery Doppler

-Severity of hydrops (incl. amniotic fluid volume)

-Fetal condition Be able to diagnose the following:

-Immune hydrops (see also 4.8)

-Non-immune hydrops Manage a case of fetal hydrops including:

-counselling 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


-perform detailed ultrasound assessment of fetal hydrops -reach a differential diagnosis

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)


-fetal medicine

-genetics

-neonatology


Personal study



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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


Training support


Embryology

- Mono & dizygous twinning

- placentation – chorionicity / amnionicity 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.

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- 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)


- Triplet & higher order multiple pregnancy

- Discordant anomalies in multiples

- TRAP sequence

- Conjoined twins

- TTTS

- Discordant fetal growth

Take an appropriate history Perform ultrasound scan in multiple pregnancy to assess:

-chorionicity and amnionicity

-fetal anatomy

-fetal growth (see 4.3) 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


Ability to take an appropriate history Ability to: -perform detailed ultrasound -assessment of a multiple pregnancy - with a fetal anomaly or discordant growth


-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)


-fetal medicine

-neonatology


Personal study

StratOG.net e-tutorials



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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


Embryology / Physiology Placenta and membranes

11. formation / function of amniotic fluid Pathology / Epidemiology

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

Diagnosis

Ultrasound measurement of AF diagnosis of oligohydramnios and hydramnios (incl. differential diagnosis)


- oligo/an-hydramnios

- hydramnios

- indications for / risks of:

-amnioinfusion (see 3.3)

-amnioreduction Pharmacology

- Prostaglandin synthase inhibitors

Take an appropriate history Perform ultrasound scan to assess AF volume 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)

Manage a case of oligo/an-hydramnios including:

-counselling regarding fetal / infant risks


-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

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

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

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


-perform detailed ultrasound assessment of AF

-reach a differential diagnosis -perform and interpret appropriate

investigations 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


- -fetal and neonatal risks

- -maternal risks


- -recurrence risks support parent(s)


-fetal medicine

-neonatology -genetics -perinatal

pathology Personal study



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


Training support


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

12. consent for post-mortem (& tissue retention)

13. 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

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 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:

-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 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

Observation of and discussion with senior medical staff Appropriate postgraduate courses e.g. Fetal Medicine Sessions in:

-fetal medicine


-genetics RCOG Guidance on Late TOP for Fetal Anomaly Personal study



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


Training support


Genetics 14. Gene structure & function

DNA as genetic material

replication, transcription & translation

mechanisms & effects of mutation 15. 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

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

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

-genetic disease (incl. cystic fibrosis, muscular dystrophy, haemoglobinopathy, haemophilia) including counselling 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 identify patients with, or at risk of a genetic condition

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


-fetal medicine

-genetics -laboratory specialties (incl. cyto- / molecular genetics

-neonatology


Personal study StratOG.net e-tutorials



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Training support


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


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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.


Training support


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 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 take an appropriate history 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

Observation of and discussion with senior medical staff Appropriate postgraduate courses e.g. Fetal Medicine The 11-14 week FMF course or equivalent Sessions in;

fetal medicine

genetics

laboratory specialties (incl. cyto- / molecular genetics, serum screening)

neonatology

paediatric surgery

perinatal pathology

Personal study

Log of experience and competence Mini-CEX Case-based discussions OSATS (amniocentesis)


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Training support


- 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

- 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

formulate management plan for ongoing and future pregnancies

support parent(s)

respect confidentiality Ability to use chromosomal testing appropriately

National Screening Committee Guidance on Down syndrome screening RCOG Guideline No 8 Amniocentesis and chorion villus sampling

http://www.rcog.org.uk/resources/Public/pdf/aminiocentesis_chorionicjan2005.pdf




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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

- 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. hyper-bilirubinaemia, anaemia)

- Management of complications (incl. exchange transfusion) Pharmacology

- Anti-D immunoglobulin

Take an appropriate obstetric history

past obstetric history

timing / method of sensitisation 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 take an appropriate history 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


- prevention of alloimmunisation

- fetal / neonatal risks of red cell antibodies

- recurrence risks and management plan for future pregnancy

Observation of and discussion with senior medical staff Appropriate postgraduate courses Attachments:

fetal medicine

neonatology Personal study RCOG Guideline No22 Anti-D immunoglobulin for rhesus prophylaxis StratOG.net e-tutorials

Log of experience & competence Mini-CEX Case-based discussions





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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

- 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

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

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


- fetal and neonatal risks (incl. consideration, where appropriate, of TOP)

- long term health implications for infant

- recurrence risks and management plan for future pregnancy

Observation of and discussion with senior medical staff Sessions in

fetal medicine

neonatology Personal study RCOG Guideline No 31 Small-for-gestational age fetus StratOG.net e-tutorials

Log of experience & competence Mini-CEX

http://www.rcog.org.uk/resources/Public/pdf/Small_Gest_Age_Fetus_No31.pdf





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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 support

Evidence / Assessment

Preconception counselling

- 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

Take an appropriate history Counsel „at risk‟ woman/family pre-conception

risks of fetal anomaly

screening / diagnostic options

refer, where appropriate, to clinical geneticist or fetal medicine specialist

Ability to take an appropriate history Abilty to

assess risks of fetal anomaly

liaise with clinical geneticists, fetal medicine specialists, physicians, teratologists and refer where appropriate


- screening / diagnostic options

- management plan for future pregnancy

Observation of and discussion with senior medical staff Sessions in

clinical genetics

Personal study

Log of experience & competence Mini-CEX Case-based discussions


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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.


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Case Management Competence level

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


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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


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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


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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


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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


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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


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Uncommon clinical condition/procedure not seen/not undertaken.

Other learning methodologies employed - Case-based discussions (CBD), Mannequins, Video/web e-learning resource. You must specifiy and give details

Date Supervisor’s Name/Signature

Sessions attended Date Supervisors signature

Fetal echocardiography clinic




Clinical genetics clinic



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Sessions attended Date Supervisors signature



Neonatal ward round / clinic




Fetal postmortem

Fetal postmortem

Other sessions (list)

Cytogenetics Molecular genetics

Regional Fetal Medicine Unit





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Uncommon clinical condition/procedure not seen/not undertaken.

Examples of other learning methodologies employed:

Case-based discussions (CBD)

Mannequins

Video/web e-learning resource You must specify and give details

Date Supervisor’s Name/Signature


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Written reports Date Supervisors signature

Audit Title

Guideline Title

Training courses or sessions

Title Signature of Educational Supervisor Date

Fetal medicine theoretical course

fetal medicine - rcog · advanced training skills module – fetal medicine august 2010 1 fetal...

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