Pathway of care for cloacal malformation: information for healthcare professionals

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The “pathway of care” for children with cloacal anomaly provides an insight into the complexity of the management of these patients. The guidance is based on contemporary and up to date literature for the work up, appropriate surgical reconstruction, monitoring and follow up required.

Parents and patients will have access to the summary version of this information empowering them to enter a partnership with the clinical team to facilitate appropriate monitoring and timely follow up. It also provides clarity into potential issues that may crop up during the patient journey and possible interventions that may be necessary. Protocolised management pathway will also aid prospective data collection, meaningful analysis, and robust, valuable lessons to be learnt in the management of these patients.

Antenatal counselling and/or intervention

 Advances in antenatal imaging modalities have led to increasing detection of congenital malformations. A cystic lesion within the fetal pelvis with or without upper urinary tract dilatation in a female or obvious hydrometrocolpos should raise the possibility of a cloacal malformation.  Appropriate counselling with the paediatric surgeon or paediatric urologist should be initiated by the feto-maternal unit. Counselling should include:  possible diagnoses  both antenatal and postnatal interventions  centre for delivery  timing and modes of delivery  Differential diagnoses include:  Vagina atresia  Imperforate hymen  Urogenital sinus anomaly  Cloacal malformation  Ovarian cyst  Duplication anomalies of hindgut  Families may be referred to Clinical Psychology Services for support and intervention as necessary.  Increasing size of the cyst, fetal ascites, anhydramnios or oligohydramnios and urinary tract dilatation may require tapping of contents or placement of shunts as deemed necessary.  Pulmonary hypoplasia as a consequence of reduced liquor may require postnatal respiratory support; therefore centre, timing and mode of delivery to meet this eventuality should be planned. Other emergency postnatal interventions to be addressed in the birth plan include drainage of an obstructed urinary tract and management of associated life threatening malformations.  Fetal MRI may be required in specific circumstances to aid diagnosis and plan possible interventions.

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Neonatal management

Aim to achieve within the first week of admission

1. Major or life threatening, associated anomalies are first addressed namely:  Pulmonary hypoplasia  Tracheo-oesophageal fistula/atresia.  Spinal dysraphism - open spinal defects. The spinal dysraphism associated with cloaca would usually be a closed dysraphic anomaly with a low-lying spinal cord. The dysraphic anomaly is important to diagnose in the neonatal period but would not be considered life threatening or in need of urgent surgical intervention.  Other intestinal atresias.  Urological - urinary tract obstruction from hydrocolpos. 2. Examination of the newborn - The diagnosis of a cloacal anomaly is a clinical one in a girl with a single perineal opening and imperforate anus. In some the genitalia may appear ambiguous and rarely the common channel may open more posteriorly which suggests a posterior cloacal anomaly. A thorough examination should include that of the spine, heart, limbs and abdomen. Particularly one should bear in mind the VACTERL association. 3. A nasogastric tube is inserted which may bring to light a choanal or oesophageal atresia. 4. Intravenous fluids & antibiotics are started. 5. Drainage of the urinary tract.  Prenatal findings of hydrocolpos and or upper urinary tract dilatation should raise the possibility of urinary tract obstruction, and immediate postnatal intervention is initiated. A catheter is inserted through the common channel, which may preferentially enter the vagina and thus drain the hydrocolpos. In most, drainage of hydrocolpos alone facilitates urinary drainage. It is not necessary to achieve catheter placement into the bladder. Failure to drain the urinary tract through the common channel may require a percutaneous drain through the anterior abdominal wall into the hydrocolpos under ultrasound guidance. Rarely suprapubic catheter placement into the bladder may be required. Effective or adequate drainage of the urinary tract is evidenced by improving dilatation of upper urinary tract on ultrasound, serum creatinine and urine output. There may initially be a diuretic phase following drainage, so fluid and electrolyte balance is closely monitored. 6. Initial investigations.  Ultrasound renal tract including pelvis - presence of both kidneys, hydronephrosis or hydroureter, duplex systems, distended bladder, hydrocolpos and ovaries are noted.  Ultrasound of spine for cord abnormalities or spinal dysraphisms. Spinal ultrasound in experienced hands is very sensitive and would be the initial neurosurgical investigation of choice. Ultrasound of the head is not indicated unless there is enlarged head circumference or additional other concerns e.g. intraventricular haemorrhage of prematurity. It is also important to document the absence of any presacral lesions and a request to the radiologist should include this query.  Lateral pelvic x-ray to document sacral ratio. Helps to prognosticate and stratify patients.  Echocardiogram to detect cardiac defects.

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 Blood tests - FBC, UE, Creatinine, and Group and save if only a diversion colostomy is planned. 7. Surgery: The aim at this stage is to divert the stool from the malformation as this provides a safe period during which assessment of the newborn can be completed in preparation for definitive surgery or reconstruction. Diversion reduces contamination of the urinary tract with faecal contents, allows effective bowel evacuation, provides the avenue to perform distal colostogram and allows a clean environment for healing following definitive reconstruction.  Complete diversion of faeces entails a divided colostomy not beyond the splenic flexure. This is to make adequate distal bowel available for mobilisation, pull-through and any reconstruction necessary at the time of definitive repair. The divided stoma is to prevent spill over of faeces into the distal loop and thereby reduce the risk of urinary tract infections. The distal stoma (mucous fistula) is made as small as possible to reduce the risk of distal loop prolapse seen commonly with transverse colostomy. The other disadvantages of a transverse colostomy include dilatation, stasis, and hyperchloraemic acidosis due to reabsorption of urine within the redundant distal loop. Rarely the distal stoma may be closed to prevent recurrent and troublesome prolapse. It is not uncommon for urine to drain transiently via the distal stoma.  Acid-Base status and UE are routinely checked. Metabolic derangements may require drainage of the urinary tract more effectively with an indwelling catheter in the short term or CIC through the common channel in the medium term until definitive repair. Other options may include a suprapubic catheter, vesicostomy or even vaginostomy. Therefore siting of various stomas should be borne in mind and planned.  EUA - If the patient’s condition allows, the opportunity is taken at the time of the diversion colostomy to examine the cloaca more precisely using a cystoscope. Both the 0-degree and 30-degree telescopes may be necessary. Video/Still picture documentation will form an essential part of the information necessary for planning and categorisation. However in practice the yield at this stage is minimal. This may be carried out at a later date as a joint EUA before definitive surgery. Stents or catheters may be left in situ while under anaesthetic for further delineation of anatomy in the radiology suite using contrast medium. These tests include a cystogram and genitogram. The presence or absence of VUR is also documented.  The in-hospital stay varies between 5 and 10 days. This may be longer if there are other associated malformations that need fairly urgent attention. All parents of new babies will be met by Clinical Psychology to be introduced to available services and offered support. The newborn is discharged from hospital once the colostomy is clearly functioning, urinary tract is reliably and consistently drained, renal function has stabilised, feeding established and other urgent issues have been addressed. It is vital that the next few weeks or months are closely monitored to establish a thriving infant. This will need coordination with the local hospital, GP or Health visitor. 8. All patients will be commenced on prophylactic antibiotics. 9. A physiotherapy assessment to provide muscle charting of the lower limbs should be done if possible.

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Further work up

On an outpatient or day case basis

This is in preparation for definitive surgery or reconstruction. The aims are to understand the anatomy of the anomaly, establish or document baseline differential renal function and drainage, examine under anaesthesia including endoscopy of the cloaca if not already carried out. More than one imaging modality or procedure may be necessary to outline the anatomy.

1. Distal colostogram or loopograms may be necessary to delineate the rectal fistula but this is not always necessary. 2. Some long common channel cloacas may require 3D-CT reconstruction with contrast to better understand the anatomy. This requires prior discussion with the radiologist to maximise the yield from the investigation. Scenarios that may warrant this investigation usually are where the anatomy is uncertain; as to where the ureters join the lower tract, where does the rectal fistula enter the cloaca and what is its relationship to the vaginal moieties if there is Mullerian duplication. 3. Radio-isotope studies in the form of a DMSA or MAG3 renogram is performed to document baseline differential renal function. If drainage of the upper urinary tract is in question then MAG3 renogram is the investigation of choice. 4. MRI spine. A good quality normal ultrasound scan will obviate the need for MRI. If a lower spinal cord anomaly is identified on ultrasound then a spinal MRI should be planned. It should be aimed for between 3-6months of age. The MRI request should also include the query of a presacral mass. A referral for paediatric neurosurgery review should then be in place. 5. A useful investigation to outline anatomy is the endoscopic evaluation of the anomaly. Ideally this is done jointly by the paediatric surgeon and the paediatric urologist. Most aspects have been highlighted above however it is vital to document the length of the common channel, distance from the vaginal confluence to the bladder neck, position of the ureteric orifices, siting the rectal fistula, presence of Mullerian duplication if any or even inability to demonstrate the presence of a vagina. Rarely laparoscopy may be helpful to document uterine anomalies.

Definitive surgery or reconstruction

Aim to achieve in infancy when the child is clearly thriving.

1. Prerequisite:  Thriving child.  Clear understanding of anatomy. 2. Goals of treatment:  Restore anatomy - external and internal 3. Definitive Surgery: options depend on the type of anomaly.  PSARP + PUM – Urethra untouched. Usually for very short common channels.  PSARP + TUM. Usually for CC <3 cm.  PSARP + Extended TUM - abdomino-perineal approach. Mostly for CC >3cm.  Abdomino-perineal ARVUP (PSARP + Total separation of UG sinus into urethra and vagina – abdomino-perineal approach).

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 Additional manoeuvres that may be necessary:  Pubic carving  Vaginal switch  Vaginal augmentation or replacement  * All Mullerian structures are generally preserved and very rarely removed. 4. Hospital admission for definitive surgery is usually for a period ranging from 3 to 7 days. 5. Epidural analgesia is usually the preferred option for post-operative pain management unless precluded by spinal or cord anomalies. 6. Oral intake is commenced in 24 hours after surgery unless there has been extensive dissection by the abdomino-perineal approach or bowel anastomosis. 7. A urethral catheter to drain the bladder is left in-situ post-operatively and removed in about 2 to 3 weeks for trial voiding on the ward and emptying is confirmed by ultrasound scan. In some patients a suprapubic catheter is used in addition, to provide bladder drainage for longer periods if necessary. Failure to void on trial or large residuals would initiate CIC. Failure to catheterise may require an EUA and appropriate intervention. Provision of reliable bladder drainage on a long term basis will be in the form of a catheterisable conduit such as a Mitrofanoff.

Colostomy closure/reversal

Six to eight weeks following definitive repair, the colostomy is closed. This is carried out provided there has been good wound healing with no complications. An US of the renal tract is done to ensure there is no upper tact dilatation. The procedure begins with an examination under anaesthesia followed by anal calibration, cysto-urethroscopy and vaginoscopy. The desirable outcome at this stage is the confirmation of completely separate and adequate outlets for the urinary tract, vagina and intestinal tract with no stenosis or dehiscence. The in-patient stay is generally for a period of 3 to 5 days. With the onset of stooling through the neo-anus, it is common to get perineal/ perianal soreness and these are best managed by barrier creams. Ongoing perianal soreness is a sign of poor bowel management and this requires attention.

Follow-up

1. Family to report to CNS (telephone consult) regarding micturition and stooling pattern on a weekly basis at least for the first 4 weeks. This may be coordinated locally. All patients will have one point of contact with the MDT, which will then be channelled appropriately, and issues addressed. 2. Successful outcomes with the above will proceed to a clinic visit with a KUB ultrasound and BFA in 3 months following surgery. This is to ensure the absence of upper urinary tract dilatation and adequate bladder emptying. 3. Review in Cloaca MDT - This may be a discussion/update or a visit in 6 months. 4. Six monthly review/monitoring for the first 2 years:  US (KUB) - upper urinary tract status and bladder emptying.  S.Creatinine - renal function.  Stooling history, bowel management and bladder function is reviewed. 5. Yearly review following the first 2 years of life to include the above investigations and non- invasive bladder function assessment (BFA). Between the age of 1 and 2, invasive urodynamics is

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recommended to document baseline storage and voiding dynamics. This will be in the form of natural fill urodynamics through a single suprapubic 5CH catheter inserted under a general anaesthetic. This will be repeated at the age of 5 and when necessary to plan for any reconstruction. 6. Frequency of review will also depend on the clinical status of the patient and presence of risk factors such as upper urinary tract dilatation, recurrent UTI, deteriorating renal function and poor bowel management. 7. All patients are plotted on a growth chart. 8. Parents, Local teams (GP, Community Paediatrician and Referring Paediatrician/Neonatologist) will be fully informed of the pathway of care and updates of review, which includes the MDT clinic letter. 9. Equipping parents with information regarding the pathway of care is to achieve engagement and a partnership in timely follow-up including clinic reviews and investigations. 10. Clinical psychology will form part and parcel of the holistic care of all patients and families.

Monitoring until transition to adolescent care

Potential issues that need regular monitoring or intervention until transition to adolescent care include:

1. Renal function: Should be monitored on a yearly basis using either a formal or estimated GFR. (Estimate GFR at 2 years of age = 33 x Height (cm) / S.Creatinine (mmol/L)). 2. Recurrent UTI: Prophylactic antibiotics are routinely used to prevent this, as a large proportion have VUR or some element of bladder dysfunction. Recurrent pyelonephritis may be the manifestation of an unsafe bladder and will need investigating with video-urodynamics. A DMSA scan to monitor dysplastic or scarred kidneys may be necessary. 3. Upper renal tract dilatation: This ultrasound scan finding can be due to VUR, obstruction or the manifestation of an unsafe or hostile bladder. Worsening dilatation will need prompt work up to identify cause for timely intervention and preservation of renal function. A KUB ultrasound on a yearly basis should be the norm. 4. Bladder function: BFA on a yearly basis should include a frequency volume chart (FVC), Uroflowmetry and Post-void residuals. A detailed up to date account of micturition history is vital. Bladder function can only be accurately assessed in the background of good bowel management. Urinary continence will become relevant as the child gets older (>3). Depending on BFA several modalities may need to be tailored to the patient such as anticholinergics, CIC, injection of bulking agents to the bladder neck or even surgery. Non-invasive BFA will also identify candidates for more invasive urodynamics. Surgical intervention may become necessary to achieve dryness or a safe reservoir and includes bladder augmentation (cystoplasty), Mitrofanoff, and bladder neck repair or closure. Invasive video-urodynamics is a prerequisite to better understand storage and voiding dynamics to tailor the type of reconstruction to the patient if this becomes necessary. 5. Bowel function: The principal goal is to achieve predictable and near complete evacuation of stool from the distal bowel and remain clean. Effective bowel evacuation may require a combination of laxatives and bowel stimulants. This may include oral or rectal preparations and in some rectal washouts. This again needs to be tailored to individual needs. Failure with the

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above methods would require surgery to initiate antegrade continent enema (ACE). All the above would constitute the “bowel management programme”. Inadequate bowel management would have a significant impact on bladder function and increase the risk for urinary tract infections. Faecal impaction can occur at times which needs aggressive bowel management and at times may need disimpaction under an anaesthetic. Perianal soreness or excoriations may indicate inadequate bowel management. 6. Reconstructed bladders: When done for continence or for providing a safe urinary reservoir, need regular monitoring. Currently small bowel is used for augmentation (rarely colon), appendix for the Mitrofanoff (Appendix-Mitrofanoff) for drainage. In the absence of an adequate appendix, a Monti channel (Monti-Mitrofanoff) is fashioned from small bowel. Although these are the best currently available options, they are not without problems. Mucous production, stone formation and infection need addressing. Metabolic complications such as hyperchloraemia and acidosis are rare; however if ileum is used, vitamin B12 levels need monitoring. B12 deficiency can be minimised by preserving the terminal 45-60 cms. Essentially annual KUB x-ray and bloods for vit B12 levels should be sufficient in addition to other investigations mentioned above. Excessive mucous may need regular washouts and this may reduce the risk of stone formation and infection. Troublesome, recurrent infections may need instillation or washouts with antibiotics (e.g. Gentamicin) or antiseptics (e.g. Chlorhexidine). Larger bore catheters may facilitate better drainage of mucous and therefore urine. 7. Change in neurology: If a dysraphic abnormality of the lower spine is confirmed (US and subsequent MRI) then there is some risk that as the child grows the spinal cord will be subject to “stretching” or tethering. Tethered spinal cord is a clinical, not a radiological diagnosis. Typical presenting features include pain (spine or lower limbs), lower limb/foot weakness or deformity or sphincter deterioration. In children with cloacal anomaly the majority do not achieve continence and spontaneous voiding. This to some extent simplifies the monitoring and management. Prophylactic untethering is not usually advocated; rather patients remain under clinical review with a decision to untether the spinal cord in the event of clinical symptoms or signs. 8. Psychosocial wellbeing will be monitored through clinician and family contact (with referrals made where necessary) with Clinical Psychology services, and regular routine review appointment at ages 5 and 11 years.

Peri-pubertal and adolescent care

The onset of thelarche (breast buds/Tanner stage 2) is the first sign of puberty in girls and predates menarche by 6 to 18 months. This stage should initiate closer monitoring of mullerian structures for early signs of obstructed menstrual flow. If menstrual egress is impeded in anyway then menstruation can be medically suppressed until further evaluation and definitive treatment.

1. Pelvic ultrasound is recommended at 6 monthly intervals. Up to 30% of girls with cloaca will have a Mullerian anomaly. These anomalies include uterine agenesis. Uterine agenesis can be difficult to confirm prior to puberty and care should be taken not to assume normal uterine function and potential prior to puberty. Unexplained cyclical pain in the presence of normal menstruation should raise the possibility of uterine duplication with an obstructed non- communicating uterine horn.

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2. Examination Under Anaesthesia will form part of the assessment and review by the Gynaecologist and Adolescent Urologist. The main aim of the EUA at this stage is to confirm the presence of a vaginal passageway for menstrual flow at menarche. The urological anatomy and its relationship with the vagina are also important observations. In addition an assessment can be made as to the likelihood of further reconstructive surgery prior to sexual intercourse. However, as long as menstruation is possible, further reconstructive surgery should be deferred until later in adolescence to allow full pubertal development and also involvement of the patient in the decision-making process and consent. 3. For more complex anatomy an MRI scan will be required to plan any reconstruction. 4. If surgical reconstruction is required, the choice of operative procedure will depend on the urogenital configuration, previous surgery, scarring and the presence or absence of a uterus. Post-operative vaginal dilation may be required immediately after surgery to prevent stenosis but is not usually required long term. 5. Renal, bladder and bowel function will always form part of the review process in this period. This will include yearly review of medications, micturition, stooling and menstrual history, GFR /eGFR, KUB ultrasound and BFA. 6. Change in neurology with regard to spinal dysraphism is discussed above. 7. Psychosocial wellbeing and readiness for transition to adult services will be monitored through clinician and family contact with Clinical Psychology services (with referrals made where necessary), and a regular routine review appointment at age 15.

Adulthood

The priorities at this stage will be to optimise potential for sexual and reproductive function.

1. Sexual Function: It is likely that the condition and its treatment will have a detrimental impact on the physical and psychological aspects of sexual function although there is little research in this area. Vaginal stenosis is common and can make sex impossible or painful. It occurs in at least 50% of women with cloaca and may require surgical revision. Perineal scarring from previous surgery may reduce sexual sensitivity and sexual satisfaction. Psychological factors affecting sexual function include poor body esteem and the impact of chronic illness. Urinary incontinence has also been associated with sexual anxiety. It is important that these concerns are anticipated and addressed appropriately by the MDT including psychology input. 2. Fertility: There are no data on fertility in this group. However, infertility rates are likely to be high due to several factors including the presence of Mullerian anomalies, damage to the fallopian tubes from inflammation, repeated abdominal surgery and the impact of chronic ill health. Vaginal stenosis preventing intercourse will prevent conception. If conception occurs, the risks of miscarriage and preterm birth are significantly increased in the presence of Mullerian anomalies although the exact magnitude is uncertain. Once a pregnancy is desired, referral to a specialist reproductive medicine unit for assessment should be considered. If pregnancy is not possible or too hazardous for the patient, other alternatives such as surrogacy and adoption may be considered. 3. Pregnancy and Delivery: There are very few reports of successful pregnancies in women with cloacal anomalies. Patients should be managed on an individual basis by a specialised team including high-risk obstetrics and urology. Potential risks include miscarriage, preterm birth and

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worsening of renal function. Although vaginal birth has been reported, Caesarean Section with a urologist in attendance is usually the recommended mode of delivery. Although there are currently no available guidelines, pregnancy care could sensibly be based on the guidelines for the multidisciplinary management of pregnancy in women with bladder exstrophy previously published by this team (Appendix 1). 4. Bladder, Bowel and Renal function need periodic review. Surveillance of augmented bladders is important, as long-term issues include metabolic changes, stone formation, infections and the potential risk of malignancy. Other complications include bladder perforation, intestinal obstruction and a high risk of further surgery. Reabsorption of ammonium and chloride from the urine can cause hyperchloraemic acidosis, however the risk of a clinically significant acidosis is small with normal renal function. The main concern with acidosis is the risk of osteopenia. Chronic bacteriuria and mucusuria are other issues that may need patient education and careful management. None of the studies have shown screening cystoscopy for cancer to offer any advantage. However, the emergence of new bladder symptoms should instigate cystoscopy, cytology and KUB ultrasound. New bladder symptoms include haematuria, more frequent UTI, difficult catheterising or even changes in continence. Although there is no evidence-based guidance on this, a reasonable start of this protocol could be from the age of 20 or 10 years after an augment. Up to 50% have renal impairment in childhood and 15-20% progress to ESRD needing renal replacement therapy.

Online resource

A summary version of this “pathway of care” document is available online for families and patients to fully inform them of what care, investigations and follow up is expected. This is available at http://www.gosh.nhs.uk/medical-information/search-for-medical-conditions/cloacal- malformation/cloacal-malformation-information/ This gains engagement in a partnership to provide excellent and high quality care. It is also envisaged that in the next 2 years we will also publish our outcome data from our centre.

Annual review/audit

As part of good medical practice, the team will conduct a review of its pathway of care and audit its outcomes on an annual basis.

Appendix 1

Clinical Recommendations: Obstetric Management in Women with Bladder Exstrophy

Reference: Deans R, Banks F, Liao LM, Wood D, Woodhouse C, Creighton SM 2012 Reproductive outcomes in women with classic bladder exstrophy: an observational cross sectional study. Am.J.Obsts.Gynecol. Jun: 206(6).e1-6

Antenatal Care:

 Once pregnancy confirmed, patients should book in a unit that provides surgical back up for delivery, and comprehensive neonatal services.  Shared antenatal care between obstetric and urological services.

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 Early and accurate ultrasound to confirm gestation, identify multiple pregnancy and exclude anomalies.  Booking visit should include a renal US, creatinine, (eGFR, and urine culture, and these tests should be repeated every 6 weeks in the second and third trimesters. If renal deterioration is noted, consideration should be given to upper tract drainage by stenting or nephrostomy.  Asymptomatic bacteriuria is common and, in the context of a reconstructed bladder should not be treated. Symptomatic infections require appropriate antibiotic therapy. Persistent urinary tract infection (UTI) should prompt investigation for a urological complication such as obstruction or stones. Occasionally prophylactic antibiotics may be needed.  Women should be counselled about catheterisation difficulties. In the third trimester, particularly, catheterisation may become difficult. Some women may prefer to have an indwelling catheter either on free drainage or with a ‘flip flow tap’.  Mitrofanoff channels may become stretched and a longer catheter therefore required.  Bladder control may deteriorate in the third trimester and some women become completely incontinent. In almost all, it returns to normal after delivery.  Regular blood pressure and urinary dipstick monitoring according to standard antenatal protocols.

Delivery:

 Elective Caesarean should be planned in the majority of cases at 37 weeks with urology team in theatre.  Vaginal delivery should only be considered when the pregnancy is uncomplicated and a senior obstetrician and urologist should be available for emergency delivery.  Delivery in a unit with maternal and neonatal high dependence and intensive care.  Blood should be cross-matched for delivery especially where there is abnormal placentation.

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