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Essay 239 - Echogenic bowel

Posted by Idris O.
a) Explain to the patient that echogenic bowel are areas in the fetal bowel that looked white and may be due to the baby swallowing blood stained amniotic fluid. Most fetuses with echogenic bowel are normal. There is however a small risk of Down\'s syndrome(Trisomy 21) and cystic fibrosis. Others include meconium peritonitis with or without atresia and meconium ileus with intestinal malrotation. Check her result of nuchal or serum screening for Down\'s syndrome if available. Offer repeat anomaly scan by a fetal medicine specialist to confirm finding and exclude other soft tissue markers of Down\'s syndrome which increases the risk in this pregnancy(Golf ball, choroid plexus cyst and renal pyelectasis).
In view of her age related risk of Down\'s syndrome of about 1/100
offer amniocentesis to determine if the fetus is affected or not by determining the fetal karyotype using FiSH and PCR. Explore her attitude to an affected fetus.Informed of the failed culture rate of 0.5% and miscarriage rate of 0.5-1%. Informed initial result would be available in 48h and would be contacted when result available and final result in 1week. Offer anti-D if rhesus negative. Provide information leaflets and arrange follow up to determine patient\'s decision.

b) If fetal karyotype is normal, arrange growth scan at 28 and 34wks. If normal, manage the rest of the pregnancy normally and aim for vaginal delivery and c-section only for obstetric reasons.
If fetal karyotype is abnormal , explore attitude to an affected fetus. Offer TOP or continuing pregnancy.
If wishes to continue with the pregnancy, arrange paediatric review to discuss implications of an affected babyand postnatal management. Arrange growth scan at 28 and 34 weeks and aim for vaginal delivery with c-section only for obstetric indication.
Post partum can be referred to Down\'s syndrome support group and baby can be adopted if she wishes. Follow up would need to be arranged to plan future pregnancy.
If wishes for TOP, offer fetal intracardial KCL prior to commencement of medical TOP with misoprostol(mifepristone would have been given 36-48h before). Offer adequate analgesia and condolescences when the fetus is born. Offer firm breast support and or cabergoline to suppress lactation. Explore attitude to postmortem examination to check for other congenital anomalities in the fetus. Determine method of burial of the baby. Arrange follow up with bereavment counsellor and consultant follow up appointment to plan future pregnancy.
Posted by ratna N.
The sonlogical finding should be explained to her and she should be informed that such a finding can be a normal variant and occurs in 0.1% to 1.8% of pregnancies in the second and third trimester.It can be associated with meconium ileus which should trigger a search for cystic fibrosis as it can be found in 15% of neonates with cystic fibrosis.In addition ehogenic bowel is associated with bowel obstruction,viral infection, aneuploidyand fetal growth restriction.
She and her partner will need testing for cystic fibrosis and if one of them is a carrier fetus should be tested by amniocenetesis or cordocentesis.She should be told about all the mutations not being known however.
There is an increased risk of hydramnios and fetal ascites ,hence vigilance kept by serial ultrasound and this would warrant early intervention such as pretem delivery.In such cases impotance of pulmonary maturity by corticosteroids should be explained.However she should be reassured against intervention if the finding is only discrete that does not change, with no ascites or hydramnios.
She should be informed about the 5% risk of intrauterine death secondary to IUGR .
S he should be assured of continuing the pregnancy unless associated with aneuploidies.
She should be told about the neonatal surgical team involved during pregnancy.
Vaginal delivery usually appropriate ,C/S for obtetric reasons only.
Recurrence rate low except when secondary to cystic fibrosis.

Cystic fibrosis is ruled out by testing both the woman and her partner and if atleast one of them is a carrier fetus is tested by amniocentecesis or cordocentesis. Karyotyping for fetal aneuploidies can be done by amnicentesis.A TORCH screen and screening for parvovirusB19 infection should be carried out to rule
out infectious causes.Serial ultrasound should be carried out to detect hyramnios ,fetal ascites and IUGR.If fetal ascites and abdominal distension increases pretrm delivery may be warranted and antenatal cotcosteroids should be given for lung maturity.Drainage of fetal ascites if lung compression is associated with good prognosis and should involve neonatal surgeons.
Therapuetic amnioreduction for hydramnios is better than indomethacin.
Expectant management during labour and delivery in a tertiary centre with neonatal team around .Caesarean section for obstetric reasons.
Postnatally overall prognosis depends by success of either gastrograffin enema or surgery in reliving obstruction mainly but mainly by severity of cystic fibrosis present.
Posted by Mohammad H.

I will tell the paitent that the anomaly scan of her

fetus revealed an echogenic bowel where the intesine

shows the same echogenicity as surrounding bones or even

appear more bright . I will reassure her that echogenic

bowel alone is mostly not associated with abnormalities, but it may be associated with chromosomal

abnormalities or cystic fbrosis(CF).I will tell her that

there is a need for further investigations to rule out other

abnormalities.I will tell her also the fetus is at increased risk

of intrauterine growth restiction (IUGR) and intrauterine

fetal death (IUFD).Information leaflets should be given to

the patient and an appointment with a geneticist can be

arranged for further informations.

MANAGEMENT
Personal and family history of cystic fibrosis for the

patient and her partner to assess if the patient is at

increased risk of having afetus with CF.Family history of

chromosomal anomalies in patient\'s and partner\'s

families to give a clue about the risk of having a baby

with chromosomal anomalies .
Anomaly scan in a tertiary center to detect other structural anomalies.
Investigations to detect CF gene mutation in the patient
and her partner to assesss the risk of the fetus to have CF
and the risk of recurrence in subsequent pregnancies .

The patient is 40 years old ,so she has a risk of 1:100 of

having Down;syndrome fetus and diagnostic test can be

offered after counselling that can include a geneticist.

Amniocentesis with karyotyping for Down\' syndrome and

PCR testing for CF gene mutation can be offered.
As the fetus is at increased risk of IUGR and IUFD follow

up using serial growth scans , biophysical profile and

umblical artery Doppler study is indicated .The delivery

should be at hospital with a neonatologist attending the

delivery .Information leaflets should be given to the

patient.















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Posted by Dr Mamta D.
a) I would tell her that echogenic bowel is minor ultrasound abnormality in which gut of the fetus is more echgenic (than iliac bones) which may be associated with aneuploidy (chromosomal abnormality in fetus ) particularly Down?s syndrome. Echogenic bowel can be a normal variant and occurs in 0.1% to 1.8% of pregnancy in 2nd and 3rd trimester. Echogenic bowel is due to baby swallowing blood stained amniotic fluid and may be seen in cystic fibrosis, meconium peritonitis with or without atresia and with intestinal malrotation.

I would reassure her that there is no major structural abnormality on anomaly scan and echogenic bowel is a soft tissue marker with reported sensitivity of 7% to 12.5% for trisomy 21 but presence of other soft markers (raised nuchal thickness, absent nasal bone, echogenic cardiac focus, short femur and short humerous) increase the risk of trisomy21.

I would tell her that considering her age (40 years), the risk of having trisomy 21 is 1 in 100 and because of her advanced maternal age, invasive testing (amniocentesis) is indicated for confirmation of diagnosis of any chromosomal abnormality. She is explained about the background risk (1%) of fetal loss and the time taken for results to be available i.e. 2 weeks for amniocentesis and 48 hours for FISH.

I would provide her written information and arrange further appointment with her partner (if she wishes) for further discussion.

b) Subsequent management depends on the presence of other soft tissue markers and on whether any chromosomal abnormality is confirmed on invasive testing or not. So I would advise the woman a detailed level II anomaly scan by fetal medicine specialist and offer her invasive testing (amniocentesis for karyotype) to diagnose trisomy 21. I would ask the personal and family history of cystic fibrosis to assess the carrier status of woman and her partner and if there is a positive history I would advise her amniocentesis PCR testing for CF gene mutation.

If the fetus is found to be affected with trisomy21, a detailed information is provided to the couple and long term implications are explained to them. The couple is explained that though it is not incompatible with life but is associated with long term morbidity, low IQ & reduced life span. The attitude of parents towards affected fetus is noted. If she wishes TOP, offer fetal intracardiac KCL prior to commencement of medical TOP. Medical TOP can be done with misoprostal (Mifepristene would have been given 36-48 hours before). Offer adequate analgesia and explore attitude to postpartum examination to check for other congenital anomalies in fetus. Burial of baby is arranged and bereavement counseling is done and consultant follow up appointment is arranged. Written information is provided and follow up is arranged.

If the fetus is affected but the couple wants to continue pregnancy, contact number of support groups are provided. If fetal karyotype is normal routine and regular antenatal care is provided during pregnancy. Regular growth scans at 28 and 34 weeks are arranged. In postpartum period, can be referred to Down?s syndrome support group and baby can be adopted if she wishes. Vaginal delivery is aimed unless obstetrical indications supervene. New born should be examined by neontologist after delivery. Breast feeding is encouraged.

At time of discharge contraceptive options are discussed with woman and recurrence risk and age related risk of developing aneuploidy is explained to her.






Posted by Saad A.
It is explained to the patient that this is a soft marker which is present in less than 1% of the pregnancies. In 85% of cases there is no associated pathology. It is associated with chromosomal abnormalities in 3% of cases especially Down?s syndrome. It can be seen in 13% of cases with cystic fibrosis. Her serum screening test (Down?s syndrome) should be reviewed as risk of Down at 40 years is 1:100. The spectrum of disorder of down should be discussed with the patient that it is associated with other structural abnormalities like cardiac, upper GI defects and other soft markers and long term implications associated with down like learning disabilities and mental retardation. It is associated with IUGR. The detailed history is obtained from the patient and any family history of abnormal foetus especially Down?s syndrome is enquired. Since age is over 40 years I would explain the need of pre natal diagnostic test for diagnosis of trisomy 21, 18 and 13 by karyotyping (FISH). The risk associated with amniocentesis/ CVS is discussed with the patient as there is risk of 0.5-1% miscarriage with amniocentesis and 0-2% with CVS and there is risk of culture failure and rhesus isoimmunisation. I would explore the attitude of patient towards TOP or continuation of pregnancy before advice. Information leaflets and details of support groups are provided.
b. The patient needs multi disciplinary care. She should be referred to a tertiary care centre for diagnostic testing (CVS, amniocentesis for karyotyping). There is a need of a detailed ultrasound scan to exclude other abnormalities like cardiac or upper GI defects and other soft tumours like choriod plexus cyst. The patient is also advised for foetal cardiac scan as in Down?s syndrome there is 40% risk of cardiac anomaly. Serial growth scan is required as there is risk of IUGR. The patient should be informed about the complications associated with CVS/amniocentesis. If patient desires TOP the option of giving KCL for foetal death is advised. Post mortem of the foetus is offered. The patient and her partner should have bereavement counselling and should be referred to SATFA (support around termination of foetal abnormalities). Follow up appointment is given. The GP and community midwife is informed. Recurrence rate is low.
If the patient opts for continuation of pregnancy then neonatologist should be informed. Long term implications should be discussed. The patient is explained the possibility of PND in next pregnancy and referral for genetic counselling.
Posted by Natalie P C.
A The first thing that I will tell her is that most of the time this is just a normal varient but there are small risks or other things. About 5 % babies have an aneuploidy such as Down?s syndrome. There is a possibility of viral infection such as Cytomegalovirus CMV, toxoplasmosis or parvovirus. About 10-20% babies are found to have cystic fibrosis (CF). Meconium ileus is another cause. Bleeding may also cause that appearance to the bowel.

B I would start with a full detailed Ultrasound scan for other anomalies and liquor volume as this may point to infection or Down?s syndrome. I would offer to do CF screening on both parents to see if they are carriers of CF. I would do a viral infection screen on the mother IgM (recent infection) and IgG (old infection) as the infection could have occurred earlier in pregnancy. I would offer amniocentesis for fetal karyotype to detect Down?s syndrome, for CF screening and to test for viral infection in the fetus. Is all these are normal I will reassure the parents but still offer regular follow up of scans as there is an increased risk of intrauterine growth restriction.
Posted by Valerie T.
A healthy 40 year old primigravida attends for anomaly scan at 20 weeks gestation. The fetus is noted to have echogenic bowel. (a) What will you tell her about this finding? [8 marks] (b) Justify your subsequent management [12 marks]

a) First, I will explain to the patient what is an echogenic bowel. I will tell her that on ultrasound scan, an echogenic bowel is a bright area on the intestines. Most babies with this finding do not develop any problems. It may be a normal finding. It may be due to immaturity of the bowel or the fetus may have swallowed some blood, which will not cause harm to the fetus. However, it is also associated with cystic fibrosis, trisomy 21, viral infections such as cytomegalovirus infection, IUGR and low birth weight. This finding of echogenic bowel is not a diagnosis, it is only a marker which tells us that we should try to identify diesases associate with it. This finding can be further investigated by amniocentesis which involves taking some amniotic fluid from around the baby to be tested for chromosomal abnormalities, cystic fibrosis and infections.

b)
First, I would take an obstetric history to identify any fetal infections, IUGR, low birth weight or stillbirths. I would take a family history to identify a history of cystic fibrosis, trisomy 21 or infections.

I would offer parental testing for cystic fibrosis. This would indicate whether the fetus has a risk of developing cystic fibrosis. Since CMV is associated with echogenic bowel, I would offer a maternal test for CMV. I would offer amniocentesis a definitive diagnosis of trisomy 21, cystic fibrosis or CMV. I would offer serial ultrasound scans at 28, 32 and 36 weeks to assess the growth and liquor volume. Microcephaly may be caused by CMV infection. Assymetrical or symmetrical growth retardation is associated with echogenic bowel. I would also offer an ultrasound scan aiming to identify any anomalies that were not present at the 20 week scan since there is an increased risk of other anomalies in the fetus.

If cystic fibrosis or trisomy 21 is identified, I would ask the neonatologist and paediatrician to speak to the parents about the management of the condition as a neonate and a child.

I would provide leaflets with written information on echogenic bowel and of any condition that is identified with further investigations.
Posted by Malar R.
She should be informed that this is a feature seen in about 1% of fetuses at this stage in pregnancy. It is a finding where the bowel contents appear prominent and bright on the USS. There is an association with cystic fibrosis in the baby and this finding and therefore they will be offered investigations to exclude this. It is also recommended to repeat the anomaly scan by a senior sonographer to exclude any other structural abnormalities in the baby. She should be told that if there are any other abnormalities on the USS, she will be offered amniocentesis and checking the baby\'s chromosomes. She should be offered leaflets about the finding if available. She should also be informed that if all the recommended investigations as described later are normal, this finding is not going to be of any major significance to her baby\'s health.

The USS should be repeated by a senior sonographer or a fetal medicine doctor if available to look for structural abnormalities (cardiac, limbs, brain) suggestive of aneuploidy such as trisomy 18.This lady is 40 yrs old and her risk of aneuploidy is high.If there are other structural abnormalities on the USS, then she should be offered amniocentesis and karyotyping to confirm the diagnosis.

In the absence of other abnormalities, as echogenic bowel is associated with cystic fibrosis, both the patient and her partner should be offered screening for delta F508, which is present in 1:20 caucasians. If they both test positive for this mutation , then they should be counselled that the fetus has a 1:4 chance of being affected with cystic fibrosis and offered amniocentesis. If they are both negative for this mutation, they should be informed that the fetus is unlikely to be affected as the other gene mutations for cystic fibrosis are rare. The couple should also be reassured if only one of them tests positive for delta F508 as the baby\'s chance of being affected is very small.

In the presence of confirmed aneuploidy, it is important to support the patient and her partner and establish their views concerning continuing pregnancy.If they opt for termination, their views should be respected and the process arranged.If they continue with the pregnancy, their midwife and GP should be informed for ongoing care. They should receive detailed information about the relevant condition affecting the baby and prognosis. The neonatologist might be involved at this stage.The pregnancy should be monitored according to the aneuploidy and USS arranged accordingly with a fetal medicine centre if possible.

If Cystic fibrosis is confirmed, the baby\'s growth needs to be monitored regularly with USS. USS can also detect progression of the echogenicity and pick up bowel dilatation and perforation. The fetal medicine unit should be involved if possible.The neonatologist needs to be involved for baby\'s aftercare in view of need for enzyme supplementation, failure to thrive and recurrent infections. The patient should be counselled about cystic fibrosis and leaflets given if available with the relevant support groups.

If all the investigations show no cause for echogenic bowel and the baby is otherwise structurally normal, the parents should be reassured. No further USS or monitoring is needed but might be performed for reassurance. The neonatologist can be informed at delivery for monitoring of feeds and bowel actions.
Posted by AMNA  K.
a)This finding is likely to generate maternal anxiety so a detailed explanation that this is a bright area in the baby,s intestine which in most of the cases (67%) is a variant of normal but in few cases its presence is associated with a chromosomal defect(Down,s sndrom(DS), genetic disease, (cystic fibrosis(CF)and viral infection(cytomrgalovirus and toxoplasmosis)in the baby. She will be told that with this finding there is a possibility that baby is growth restricted (8%) or may die (10%). She will be explained that this finding requires a careful survey of other structural abnormalities including gastrointestinal tract(duodenal atresia) and cardiovascular system(atrioventicular defects) on the ultrasound as this will increase the risk of chromosomal abnormality in the baby and if no abnormalities are found then in view of her age related risk which is 1/100 for DS she will be offered diagnostic test amniocentesis. She will be told that amniocentesis is associated with miscarriage risk of 0.5 to 1% above background and and if she is Rh-ve then there is risk of Rh isoimmunization.Amniocentesis and FISH provide results in 48 -72 hrs and confirmation (karyotype) 2-3 weeks later. She will also be told that her blood will also be tested for viral infections and she and her partner ( putative father) will be screened for the CF gene and risk of baby having CF will depend upon their screening results. Leaflet to support verbal discussion will be given and will be documented in her antenatal record. Furth appointment will be arranged.
b)Detailed personal and family history of chromosomal abnormality and medical history of repeated chest infection and diabetes for CF will be explored and serological test will be sent for toxoplasmosis and cytomegalovirus. Further management will depend upon result of karyotype and presence or absence of structural defects on ultrasonography suggestive of DS(duodenal atresia, heart defects(ASD)),or CMV (microcephely, intracranial calcification) .
If karyotyping indicates DS then mothers view regarding continuation or termination of pregnancy(TOP) must be enquired .Should she continues pregnancy then prognosis of DS baby must be told her that it is a severe learning disability with long term survival(50-55yrs) and 50% of these babies have structural problems involving GIT and CVS systems.Long term problems (leukemia , alzaheimar disease) and need of special education should also be told her .If she opts for TOP then methods of termination (intracardiaKCL+mifepriston +misopristol and oxytocin) will be discussed. Normal karyotype is reassuring. On the other hand if maternal serology is positive for CMV and toxoplasmosis and uss features are suggestive of CMV(intracranial calcification and microcephely) then prognosis of fetus can be mild or more severe -handicap with problems of nerve deafness, cataract and intellectual handicap and this should be discussed with her. If both partners are carriers of cystic fibrosis mutation then amniocentesis will also provide information about carrier status of fetus (although not in all cases as not all mutations are discovered yet).If no parental mutations are found then risk of baby having CF is approximately 1/2500 and baby can be screened after birth.
Serial uss will be offered as echogenic bowel is associated with increased risk of intrauterine growth restriction (8-10%) and Doppler study of umbilical artery will be advised if features are suggestive of IUGR .Normal vaginal delivery will be anticipated and CS is only for obstetric indications . Neonatologist will be present at the time of delivery to examine baby.
Risk of recurrence(cystic fibrosis and DS) and contraception is discussed and breast feeding is encouraged .In case if baby has DS then support group(Downs syndrom association) contact and leaflets about bringing up downsyndromic baby should be given .

Posted by Reena M.
I will tell her , echogenic bowel is one which appears bright as neighbouring bone . It may be benign , it is associated with meconium ileus, m.peritonitis. . malrotation of gut.It occurs around 0.8-1.8% of pregnancies . Some may resolve spontaneously. It can be due to swallowing of blood stained amniotic fluid after invasive procedure or abruption .It is a soft marker and is seen in aneuploidies.

The patient is 40yrs and she already has a risk of 1/100 for Down\'s syndrome . Detailed ultrasound to find other major markers will be done .Mostly it is associated with meconium ileus , which is seen in cystic fibrosis. Enquire about family histoty of cystic fibrosis. Both parents need to be screened for cystic fibrosis mutation .Karyotyping will be offered to rule out aneuplodies . and results informed to her
There is risk of iugr and unexplained iufd , hence she needs close monitoring of fetal growh. .
Normal delivery is expected C.section for obstetric indications only. Neonate should be seen by pediatrician , and examination required . Breast feeding advised once initial pediatric examination is fine
Posted by Fahima A.
a) I will first explain to her that this is a ultrasound marker where echogenecity of bowel is equal to or greater than adjacent fetal bone (iliac crest) with the same machine setting. The bowel ischaemia is thought to the reason behind it.
She should be told that about 67% cases it is a normal finding. However it may be associated with chromosomal anomaly like Down?s syndrome. Echogenic bowel may also be seen in cystic fibrosis or cytomegalovirus (CMV) infection. It has an association with intrauterine growth restriction (8%) & intra uterine death. Patient should be given information leaflet about it.
b) The lady should be sent to tertiary fetal medicine centre for high resolution ultrasound scan to exclude any congenital anomaly or any other soft marker for chromosomal aneuploidy. Her serum screening for Down?s syndrome early ultrasound scan for nuchal translucency should also be reviewed. In absence of a second marker or if screening test is not indicated karyotyping is not usually recommended. But at 40 years her age related risk of Down?s syndrome is 1:100. Therefore she can be offered amniocentesis. Her wishes about termination of pregnancy should also be discussed. She should also be told that amniocentesis is an invasive test & it has risk of miscarriage (about 0.5- 1 in100).
Both her & her partner?s family history of cystic fibrosis should also be discussed. If history suggestive she & her partner can be tested for common mutation of cystic fibrosis. Neonatal screening for cystic fibrosis should also be done after delivery.
An enquiry should be made about any recent history of viral infection. Serum screening for TORCH infection should also be bone.
In absence of any pathology regular growth scan should be done to detect IUGR. If IUGR is detected follow up should be done with umbilical artery doppler, CTG and biophysical profile. Steroid should be given to mother to mature the fetal lung if preterm delivery is necessary.
Time and mode of delivery will depend on obstretic situation. Echogenic bowel is not an indication for caesarean section. Neonatologist should be present at delivery.