Aims and Objectives

1. Aims and Objectives of Service
Foetal medicine is the branch of medicine that provides care for the foetus (or foetuses) and the mother. This includes the assessment of foetal growth and wellbeing and the diagnosis and management of foetal disorders (including foetal abnormalities) and counselling and support for parents. Once the diagnosis is confirmed (and it is not always possible to make a definitive diagnosis) a number of pregnancies require joint management with other specialities including: medical genetics, radiology, virology, microbiology, neonatology, paediatric surgery, paediatric cardiology, paediatric nephrology/urology, paediatric neurology, facial cleft services and gynaecology (in order to arrange for the delivery or termination of pregnancy).

The aim of specialised foetal medicine services is to provide patient focused high quality evidence-based care to women with complex pregnancies or whose foetus (or foetuses) has a confirmed or suspected disorder. The ability to improve the outcome of some foetal disorders has developed because of advances in prenatal diagnosis and therapy. Foetal medicine is the specialty that focuses on foetal health and its consequences for women and their families.

Objectives of the Service:
• To provide a safe and effective care pathway for women and babies with a foetal abnormality or congenital disorder.
• To provide social, economic and psychological benefits for the mother and foetus.
• To provide a high level of care and support to local maternity and obstetric services.
• To provide continuity of care.

2. Service Description/Scope of Services
Specialised foetal medicine services include prenatal diagnosis and foetal therapy as well as pre and postnatal counselling about future risks and appropriate management strategies. Foetal medicine involves the assessment of the unborn foetus mainly by ultrasound. This may allow monitoring of certain conditions, the diagnosis of congenital disorders, in utero (within the womb) therapy, optimisation of time and place of delivery and optimisation of postnatal management. In some cases of serious or potentially serious underlying foetal conditions, termination of pregnancy will be discussed and can also be arranged.

Services include:
• Prenatal genetic evaluation
• Accurate foetal diagnosis of an evolving condition
• Inverting the pyramid for congenital anomalies: identifying congenital anomalies, foetal Echocardiography, foetal Neurosonography by 12 weeks.
• Understanding the complexities of Serum screening and their interpretation.
• Evidence based management of congenital anomalies.
• Doppler evaluation and monitoring of normal, high risk pregnancy & Multiple Pregnancy.
• Monitoring of Multiple pregnancies.
• Foetal Echocardiography
• Antenatal Foetal MRI
• Invasive foetal procedures (Amniocentesis, Chorionic Villus Sampling (CVS), Cordocentesis, Intrauterine transfusion).
• Multidisciplinary approach (Gynaecology, Pediatric Cardiology, Pediatric Urology, Pediatric Surgery) for management of congenital anomalies: Congenital Anomaly Management Board (CAMB).

3. Patient Criteria
• Foetal abnormality suspected/detected during ultrasound screening.
• Pregnancy complicated by a genetic abnormality (suspected recurrence).
• Pregnancy complicated by a possible foetal infection.
• Severe foetal growth restriction (most commonly presenting before 32 weeks gestation).
• Twin pregnancy with complications.
• Triplet and higher order multiple pregnancy.
• Routine screening for foetal abnormalities and foetal diseases such as rhesus isoimmunisation as well as routine assessment of foetal wellbeing.
• After the initial screening, if a foetal problem is suspected, further assessment will be required. In most cases, e.g. common foetal abnormalities with a clear prognosis such as anencephaly, assessment typically involving ultrasound scanning will be performed by the obstetrician/ultrasonologist.

4. The Service:
Foetal medicine services will provide the defined activities outline below as part of a multidisciplinary team associated with a number of interdependent services (e.g. neonatology, pediatric surgery, pediatric cardiology).

General Specialized Foetal Medicine Services include:
Detailed assessment of foetuses at risk of and/or with abnormalities or dysmorphic syndromes which includes:

  • Specialised ultrasound assessment.
  • Detailed counselling, including explanation of findings which may include specific diagnosis or differential diagnoses and the implications and prognosis for the baby.
  • Management planning with the offer of further investigations which include invasive and non-invasive foetal diagnostic tests, e.g. genetic testing on free foetal DNA in maternal serum, prenatal tests, further imaging such as foetal MRI.
  • Consultation with other disciplines will take place and include information regarding the complications and outlook for the baby, possible invasive therapeutic procedures and, when appropriate, the option of terminating the pregnancy. Pre- or post-pregnancy counselling for families regarding implications for a future pregnancy.
  • Detailed assessment and management planning for foetuses at risk of complications related to maternal red cell or platelet antibodies or some maternal infections.
  • Detailed assessment and management planning for foetuses at risk due to exposure to teratogen/s (agents that may disturb the development of an embryo or foetus).

Foetal Cardiology Services:
Detailed assessment of foetuses at risk of and/or cardiac abnormalities which includes:

  • Foetal echocardiography.
  • Detailed counselling, including explanation of findings which may include specific diagnosis or differential diagnoses and the implications and prognosis for the baby.
  • Multidisciplinary management planning including offering further investigations (including invasive foetal medicine tests, parental tests) and post pregnancy counselling for families with an affected child regarding implications for a future pregnancy.

Foetuses at risk of cardiac anomaly include where sibling or parent has specific types of congenital heart disease, exposure to specific teratogens, nuchal translucency greater than 3.0 mm at 11-14 week ultrasound scan, monochorionic twins, and other anomalies, e.g. congenital diaphragmatic hernia, exomphalos.

The Small Foetus:
Detailed assessment and management planning for foetuses found to be small for gestational age and at risk of preterm birth (either because of suspected intrinsic foetal pathology or growth restriction due to placental dysfunction) before 32 weeks gestation.

Invasive Diagnostic Procedures:

  • Chorionic Villus Sampling (CVS)
  • Amniocentesis, especially where the procedure is difficult/complex e.g. multiple pregnancy, women with high Body Mass Index (BMI), oligohydramnios, where there has been a failure to obtain a sample at the referral hospital.
  • Foetal blood sampling, where further testing is needed to clarify equivocal results from CVS or amniocentesis e.g. mosaicism.

Invasive Therapeutic Procedures:
• Amniotic fluid drainage (Amnioreduction).
• Infusion of fluid into the amniotic cavity (Amnioinfusion).
• Transfusion therapy for foetal anaemia (alloimmune red cell disease or foetal infection).
• Transfusion therapy for foetal thrombocytopenia (alloimmune platelet disease), Intravenous immunoglobulin therapy for alloimmune platelet disease.
• Feto-amniotic shunting: pleuroamniotic shunt, vesico-amniotic shunt, cyst aspiration.
• Fetoscopic laser ablation in twin to twin syndrome (TTTS) of monochorionic twins.
• Fetoscopic tracheal occlusion (FETO) for several congenital diaphragmatic hernia.
• Other foetal procedures (e.g. laser therapy for foetal tumors, balloon valvuloplasty).

Invasive Procedures relating to termination of a pregnancy:
• Multifoetal pregnancy reduction.
• Fetocide (selective or LSCS Scar Ectopic).
• Cord occlusion in monochorionic twins.
• Intrafoetal laser ablation or radiofrequency ablation in twin reversed arterial perfusion (TRAP) sequence.
• Late surgical termination of pregnancy.

Assessment and management of complicated twin pregnancies and high order multiple pregnancies (three or more):
• All invasive diagnostic tests in twins or higher order multiple pregnancies.
• Antenatal surveillance and management of all triplet and higher order multiple pregnancies.
• Dichorionic twins with discordant/concordant anomaly.
• Dichorionic twins with a small foetus and/or discordant foetal growth under 32 weeks gestation.
• Monochorionic twins between 16-32 weeks gestation at high risk of complications, including TTTS.
• Monochorionic twins with discordant nuchal translucency at 11-14 weeks gestation.
• Monochorionic twins with a small foetus and/or discordant growth.
• Monochorionic twins with discordant/concordant anomaly.
• Suspected or confirmed TRAP sequence.
• Monochorionic twins where there has been a single foetal death.

5. Infrastructure and Multidisciplinary Assessment:
• Multidisciplinary assessments and counselling includes interrelated discussions with the Congenital Anomaly Management Board (CAMB) which includes other specialities e.g. complex child and adolescent gynaecology, neonatology, paediatric surgery, clinical genetics, paediatric cardiology, paediatric nephrology/urology, paediatric neurology, radiology, virology and microbiology.

• Medical genetic services (all ages): laboratory testing for Down’s syndrome, other pre-pregnancy and antenatal genetic problems and pre-implantation genetic diagnostic services.

• High end dedicated Ultrasound equipment with subspecialist consultants, who provide prenatal diagnostic and foetal therapeutic services in collaboration with other specialist services as listed above.

6. Applicable Service Standards

a. NICE Clinical Guidelines and Quality Standards:
• Antenatal Care Quality Standards, NICE, 2012.
• Multiple pregnancy, NICE, 2011.
• Antenatal care: Routine care for the healthy pregnant woman, NICE Clinical Guidelines CG62, NICE, 2008.
• Diabetes in pregnancy: management of diabetes and its complications from preconception to the postnatal period, NICE Clinical Guidelines CG63, NICE 2008.
• Antenatal and postnatal mental health, NICE Clinical Guidelines, CG45, NICE 2007.

b. NICE Interventional Procedure Guidelines:
• Foetal vesico-amniotic shunt for lower urinary tract outflow obstruction, NICE Interventional Procedures Guidelines IPG 22, NICE, 2006.
• Intrauterine laser ablation of placental vessels for treatment of twin-to-twin transfusion syndrome, NICE Interventional Procedures Guidelines IPG 198, NICE, 2006.
• Therapeutic amnioinfusion for oligohydramnios during pregnancy (excluding labour) NICE Interventional Procedures Guidelines IPG192, NICE, 2006.
• Insertion of pleuro-amniotic shunt for foetal pleural effusion, NICE Interventional Prococedures Guidelines IPG 190, NICE, 2006.
• Percutaneous laser therapy for foetal tumours, NICE Interventional Procedures Guidelines IPG 180, NICE, 2006.
• Percutaneous laser therapy for foetal tumours, NICE Interventional Procedures Guidelines, IPG 180, NICE, 2006.
• Percutaneous foetal balloon valvuloplasty for pulmonary atresia with intact ventricular septum, NICE Interventional Procedures Guidelines IPG 176, NICE, 2006.

c. Royal College of Obstetricians and Gynaecologists (RCOG) Guidelines:
• Termination of Pregnancy for Foetal Abnormality in England, Scotland and Wales, RCOG, 2010.
• Management of monochorionic twin pregnancy, Green Top Guidelines 51, RCOG, December 2008.
• Amniocentesis and chorionic villus sampling, Green Top Guidelines 8, RCOG, 2005.
• Ultrasound screening for foetal abnormalities, report of the RCOG Working Party (1997) and Supplement (2000), RCOG 1997 and 2000.

7. Key Service Outcomes:
• Provide a tertiary service to support women requiring specialist support before, during and after pregnancy.
• Planned and mapped care for women with a foetal medicine problem.
• Social, economic and psychological benefits for the families.
• Care and information should be appropriate and the woman’s cultural practices should be taken into account. All information should be provided in a form that is accessible to women, their partners and families, taking into account any additional needs, such as physical, cognitive or sensory disabilities.

• Women and their families should always be treated with kindness, respect and dignity. The views, beliefs and values of the woman, her partner and her family in relation to her care and that of her baby should be sought and respected at all times.

• The service will be flexible and responsive, adapting to the individual needs of the baby and the family.
• The provider will provide a service that is based on the principle of equal access for all and one that is responsive to diverse needs and is free from stereotyping and discriminatory practices.