Omphalocele outcomes

I’ve been doing my best to understand what the likely outcomes are depending on what we find out.

Here’s an article that suggests that “Infants with associated anomalies and giant omphaloceles have the poorest outcomes”:

http://omphalocele.net/wordpress/wp-content/uploads/2010/03/omphalocele_article1.pdf

It notes:

·       In approximately 50 percent of all cases, the defect contains liver. 

·       Smaller omphaloceles (that contain only bowel) are associated with chromosomal abnormalities.

·       Sac rupture prior to delivery is reported in 10 to 18 percent of cases

·       Giant omphaloceles have an abdominal wall defect >5 cm in diameter, and the abdominal cavity in these infants is usually small and underdeveloped due to the absence of intestinal viscera in the abdominal cavity to stimulate growth

·       The amount of alpha-fetoprotein (AFP) secreted across the membrane is directly proportional to the size of the defect.

·       Elective pregnancy termination occurs in 29 to 51 percent of cases.

·       Omphaloceles that are 5 cm or less in diameter are usually good candidates for primary closure. This is a single procedure that closes the defective fascia in the operating room.

·       25% mortality rate for infants with giant omphaloceles and no other underlying anomalies

·       80% mortality rate for infants with omphaloceles and associated anomalies

·       Survival rates for those with isolated omphaloceles are reported at 75 to 95 percent. 

·       Feeding problems, GER, asthma, bronchomalacia, and recurrent respiratory infections have been reported in 40 to 80 percent of cases of giant omphalocele

One study went through survival rates from 1985-2005 of 90 omphalocele pregnancies, depending on the location of the omphalocele:

http://onlinelibrary.wiley.com/doi/10.1002/uog.1978/full

Omphaloceles can be hypogastric (below the umbilicus), central [most common], or epigastric (above the umbilicus). 

For 58 central omphaloceles:

·       Abnormal karyotype in 40/58 (69%)

·       89% of the normal karyotype had other anomalies

·       38 (66%) were terminated and 12 (21%) died during pregnancy or after delivery

·       Of eight survivals, only two were considered healthy while six had other anomalies and/or substantially impaired development

For 32 epigastric omphaloceles:

·       Abnormal karyotype 4/32 (12.5%)

·       71% of the normal karyotype had other anomalies

·       11 (34%) were terminated and 8 (25%) died during pregnancy or after delivery

·       Of 13 survivals, six were considered healthy and seven had other anomalies and/or substantial impairment

Trisomy 18 was the most frequent abnormality associated.  The conclusion of the article was that central omphaloceles are more strongly associated with abnormal karyotype than are epigastric omphaloceles, and the survival rate was low for both.

Here’s another study on outcomes of 124 patients from 1998-2007:

http://www.rcst.or.th/ejournal/files/Vol31_No2_48.pdf

·       Omphalocele defects ranged from 2 to 13 cm. in diameter (average 4.5 cm.).

·       45% of the babies were born premature.

·       2 of the babies were born with their sac ruptured.

Of the 124 babies that were born, 67 (54%) survived:

·       8 babies passed away before treatment.

·       22 had severe associated anomalies that were suspected incompatible with life.  They were conservatively treated by topical antiseptic therapy. 2 of the 22 (9%) survived. 

·       33 had omphalocele defect larger than 6 cm. in diameter.  They were managed by staged operations.  21 (63.6%) survived.  The duration from closure to the first oral feeding for these patients ranged from 8 to 20 days.

·       61 had omphalocele defect from 2 to 6 cm.  They were operated on via primary closure.  Forty-four of the 61 patients (72%) survived.  The duration from closure to the first oral feeding for these patients ranged from 7 to 14 days. 

The article suggested that vaginal delivery may be appropriate unless it is a giant omphalocele with the liver in it.

Here’s another article giving a sense of outcomes of 65 cases from 1988-2002:

http://www.ncbi.nlm.nih.gov/m/pubmed/19367563/

It broke them into three categories before birth:

(1) 14 isolated-no additional structural/karyotype anomalies

(2) 5 associated minor abnormality

(3) 46 major structural/karyotype abnormalities.

However, the article also noted that 1/4 of the cases with isolated or minor abnormalities, an additional major anomaly or BWS was identified after birth:

·       cardiac anomalies (2 cases)

·       tracheoesophageal atresia with cardiac anomaly (1 case)

·       Beckwith-Wiedemann syndrome (BWS) (2 cases)

It also noted that one-third were delivered preterm with a 50% rate of demise.  None of the full-term babies from (1) or (2) passed away.

Follow-up of isolated omphalocele found no long-term medical issues or learning disabilities except speech delay.

Diagnosing omphalocele

Omphaloceles can be diagnosed in the first trimester:

http://www.fetalultrasound.com/online/text/34-055.htm

This article gives some guidance on early diagnosis:

http://www.fetalsono.com/teachfiles/bowelher.lasso

It suggests, “an omphalocele should be considered when the following observations are made: 1) the soft-tissue mass is larger than 7mm prior to 10 weeks and larger than 10 mm between 10 and 12 weeks gestation and is homogeneous in texture (due to the liver) 2) the "mass" is round and is as large, if not larger, than the embryonic abdomen, 3) the mass persists beyond 12 weeks gestation, or 4) other malformations are identified.”

This one suggests that by the time a fetus is 44mm long, herniation should not be visible:

http://emedicine.medscape.com/article/404182-overview

Chorionic Villus Sampling

Sooo, I’m (probably) having a CVS procedure done on Friday.  Kinda feels like I should get a little more information about it….

This is a great “all you ever wanted to know about CVS but were afraid to ask” article:

https://www.rcog.org.uk/globalassets/documents/guidelines/gt8amniocentesis0111.pdf

Summary: 

·       CVS is carried out via a needle that takes a sample of the placental villi.

·       Can be done vaginally or abdominally, depending on location of baby.

·       If done abdominally, local anesthetic should be used.

·       The procedure should be done with simultaneous ultrasound.

·       CVS is usually performed between 11w0d and 13w6d.  Can be performed earlier (starting at 10w0d), but there’s a greater risk of complications / limb deformities. 

·       To be competent, a doctor should do 30 procedures/yr. 

·       Miscarriage rate is 0.5-1%.  More experienced docs tend to have lower complication rates.

The doctor doing our CVS procedure is (allegedly) the most experienced doctor in our high-risk OB’s office.  She does 25-30 procedures per year.  I decided to call around and see if any other doctors have more experience.  It turns out that high-risk OBs tend to have just 1-2 people in their office that even do the procedures.  Here’s what I found out about practitioners in Minnesota who do CVS procedures:

 

·       http://wellness.allinahealth.org/providers/3923 (25-30 procedures per year; no known complications)

·       http://www.mayoclinic.org/biographies/davies-norman-p-m-b-b-s-m-d/bio-20054685 (10-15 procedures in the first 4 months of the year; 100s over the past 7-8 years; complication rate of less than 0.5%)

·       https://www.mhealth.org/providers/prosentracy-1354467830 (still waiting on specific data; allegedly she has done “a lot”)

One comment—the customer service at Mayo was AMAZING.  The have it dialed in!

If you must have the most experienced practitioner in the country, consider going to Cedars-Sinai. They do approximately 2,000 procedures a year:

http://www.cedars-sinai.edu/Patients/Programs-and-Services/Prenatal-Diagnosis/Chrorionic-Villus-Sampling-CVS.aspx

Also, this article suggests that heavier women experience more pain from a CVS procedure:

http://www.ncbi.nlm.nih.gov/pubmed/19683693

Spinal abnormalities

Okay, I said I was not going to do much research on spinal abnormalities because it sounds like if there is one, there is no real hope.  Instead, I planned on just praying the spinal issue resolves (not sure that there is any real chance of that).  Of course, I managed to avoid doing any research for like 24 hours.  Then I went looking for my sliver of hope.

It’s not much, but here goes.  Ossification of the spine allegedly starts at 10-11 weeks:

https://books.google.com/books?id=32XyGeuwWyAC&pg=PA198&lpg=PA198&dq=11+weeks+pregnant+spine+ossification&source=bl&ots=C7ZePDJhrJ&sig=LxkyzGSGM6sLxK6Zv2Pd87xOqeo&hl=en&sa=X&ved=0ahUKEwjLveCIp6vMAhXCeCYKHd0HB_cQ6AEIMzAF#v=onepage&q=11%20weeks%20pregnant%20spine%20ossification&f=false

If that’s true, how can we diagnose a spinal issue at 11w5d? 

(Although I read that female fetuses have earlier spinal ossification than males:http://www.ncbi.nlm.nih.gov/pubmed/15936488)

This says the same thing—ossification of the spine starts at 10 weeks and spreads through weeks 12-13:

https://books.google.com/books?id=pxy5AtKzjhMC&pg=RA1-PA39&lpg=RA1-PA39&dq=11+weeks+pregnant+spine+ossification&source=bl&ots=KNX5yR0RWA&sig=14lat_wDBwqApUbx5dpr39SFxzg&hl=en&sa=X&ved=0ahUKEwjLveCIp6vMAhXCeCYKHd0HB_cQ6AEIKDAC#v=onepage&q=11%20weeks%20pregnant%20spine%20ossification&f=false

Okay, the doctor said as much, which is why he wanted us to come back in a week, although he did not seem to think that enough would change in the 2 days from our 11w5d ultrasound appointment.

I was also worried about spina bifida (since we are at an increased risk for neural tube defects), but it sounds like it’s hard to diagnose spina bifida before 14-16 weeks (at least by looking at the spine):

http://onlinelibrary.wiley.com/doi/10.1002/uog.10128/full

Okay, so assuming the doctor is right and we do have a spinal ossification issue, what could it be?  My research has not turned anything really common up, so this seems rather rare.  (Notice a lot of my links are to “rarediseases.org”.)

Caudal regression syndrome

Very bad.  Abnormal development of the lower spine.  Often combined with lots of other bad stuff.  (Although nothing specifically mentioned omphalocele.)  Rare (1-5/100,000 live births).  Cause unknown, although it is common in diabetic mothers and there is a theory that it could be in part due to insufficient folic acid.  (Of course I’ve been on close to 5000mg folic acid—hardly insufficient.)  Can be diagnosed in utero as early as 11 weeks.  Associated abnormalities (e.g. gastrointestinal) are common.

http://rarediseases.org/rare-diseases/caudal-regression-syndrome/

https://en.m.wikipedia.org/wiki/Caudal_regression_syndrome

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC64494/

http://www.jultrasoundmed.org/content/21/10/1175.full.pdf

Whelp, this does not make me feel any better.  This suggests that the absence of the lower part of the spine (which is what we have) can be diagnosed pretty early.  BUT it also notes that a shorter crown to rump length is an indicator, as is a large nuchal translucency, neither of which we have.

Achondrogenesis

Also very bad.  Pretty rare (1/40,0000-60,000).  Most fetuses die in utero or shortly after birth.  Diagnosed as early as 12-15 weeks based on abnormal limb development (short limbs).

http://rarediseases.org/rare-diseases/achondrogenesis/

http://onlinelibrary.wiley.com/doi/10.1002/pd.1970130615/abstract

http://emedicine.medscape.com/article/941176-differential

Our doctor didn’t mention short limbs, but I’ll be sure to ask at the next appointment.

Osteogenesis imperfecta

Brittle bones, but not necessarily fatal (depending on the type).  1/20,000-60,000.  Diagnosis in utero based on short limbs and defective bone mineralization as early as 10-14 weeks.

https://en.wikipedia.org/wiki/Osteogenesis_imperfecta

http://www.jultrasoundmed.org/content/22/3/311.full.pdf

Osteochondrodysplasia

Group of over 350 bone disorders, includes osteogenesis imperfecta.

https://en.m.wikipedia.org/wiki/Osteochondrodysplasia

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2832320/

Hypophosphatasia

Very bad.  Stillbirth/death after birth common.  Diagnosis based on micromelia (deformed limbs).  Probably indistinguishable on ultrasound with achondrogenesis or osteogenesis imperfecta.  There are several types, but the really bad one includes abnormal bone ossification.  (That version is 1/100,000.)  It’s associated with an abnormal NT measurement.  Can be diagnosed as early as 12 weeks.

https://en.m.wikipedia.org/wiki/Hypophosphatasia

http://sonoworld.com/fetus/page.aspx?id=355

http://www.fetalsono.com/teachfiles/Hypophos.lasso

http://fetalmedicine.com/synced/fmf/2002_21.pdf

No one said anything about short limbs, but the abnormal ossification is a problem.  Of course our NT was normal.

Pentalogy of Cantrell

For complete pentalogy of Cantrell, 5 defects must be present: breastbone (sternum), the muscle that separates the chest cavity from the abdomen and aids in breathing (diaphragm), the thin membrane that lines the heart (pericardium), the abdominal wall (including omphalocele), and the heart.  If only some are present it is incomplete pentalogy of Cantrell.  It can also include spinal issues like spina bifida.  Extremely rare (5.5/1,000,000).  Can be diagnosed as early as 10 weeks based on the omphalocele and heart outside of the chest.  Seems like most people with this diagnosis terminate.

http://rarediseases.org/rare-diseases/pentalogy-of-cantrell/

http://sonoworld.com/fetus/page.aspx?id=995

This seems so rare, it’s hard to believe it’s what we have.  (Famous last words?)  Also, there was no indication her heart was outside of her chest (ectopia cordis).

Diastematomyelia

Very rare.  Part of the spinal cord is split, can be associated with spina bifida. 

https://en.m.wikipedia.org/wiki/Diastematomyelia

http://www.ncbi.nlm.nih.gov/pubmed/10776019

This doesn’t sound like what we have.

Obviously I’ve just scratched the surface on spinal abnormalities, but from what I’m reading, the doctor’s suggestion that IF there is abnormal ossification of the spine there is no real hope is appearing to be true.  

I’ll just keep praying the spinal issue is a misdiagnosis.

Umbilical cord cyst

The umbilical cord cyst was nothing more than a passing mention in our ultrasound appointment, clearly far less of a concern than the other two major issues.

But, of course, I wanted to read a little more about umbilical cord cysts to understand more about them. 

The good news is that there can be an isolated umbilical cord cyst without any fetal abnormalities:

http://www.scielo.br/scielo.php?pid=S0100-39842008000300006&script=sci_arttext&tlng=en

On the other hand, the article notes that there is a correlation between umbilical cord cysts and anomalies, in up to 50% of cases, particularly in findings occurring at the second and third trimesters of gestation.  (In the first trimester, the cysts can be transitory, and most children with them will be normal, so there is not as much of a concern.)  Prevalence of umbilical cord cysts sonographically found at different gestational ages ranges between 0.4% and 3.4% (the more prevalent number was found in a high-risk population).

The article explains that “true umbilical cord cysts” develop in the fetal end of the umbilical cord and are associated with gastrointestinal and geniturinary tracts abnormalities (omphalocele, persistence of the urachus and obstructive uropathy).  So, for us, the umbilical cord cyst likely associated with the omphalocele.  “Pseudo-cysts,” on the other hand, do not present an epithelial lining (embryonic structures), and “originate from a focal edema of the Wharton’s jelly or from its absence because of degenerative alterations.”  They are more frequent than the “true” ones and have been found in cases of omphalocele and trisomy 18.  The article notes that differentiation between true and pseudo-cysts cannot be achieved by means of ultrasonography, only by means of a histopathologic study (i.e. a study of the tissue).

The article considers nine cases of isolated umbilical cord cysts found over a 10 year period, two found in the first trimester and the remainder found in the second and third trimester.  In all cases, the babies were chromosomally normal and born healthy.

This article suggests that 20% of cases with cord cysts also have structural/chromosomal abnormalities:

http://emedicine.medscape.com/article/262470-overview#a6

It suggests that for patients with large cysts, they may need to have a c-section to avoid rupture of the cyst during labor.

And here’s a baby center Q&A with lots of happy outcomes with umbilical cord cysts:

http://www.babycenter.com/400_umbilical-cord-cysts_2320485_656.bc?sortFieldName=

Looking for a sliver of hope

My mind is still spinning, so it has been hard to focus enough to even decide what more I would want to know.  (My initial post was based on the documentation and information we got from the doctor’s office, which at times was somewhat in conflict.)

I have not done a ton of research about the spinal issue because, from what the doctor said, if the baby is missing its spinal cord there is no real hope.  So for now I’m just hoping she’s a late bloomer and we will see more ossification next week.  

I have also not read much about the umbilical cord cyst.  It sounds like it can be something to be worried about, but there’s not much that can be done one way or the other, and it’s certainly the least of our problems.

I’ve really been focusing my intellectual energy on the omphalocele.  And a lot of what I have read is pretty disheartening.  (Including the obituary for a kid that eventually succumbed to complications when she was 2 years old.)

So far, I have only read one medical journal article that gave me any real hope:

http://pubs.rsna.org/doi/pdf/10.1148/radiol.2321030795

Some doctors in Israel did endovaginal (in the vagina with the wand) ultrasounds in 43,896 pregnancies in women at 12-16 weeks gestation.  Omphalocele was diagnosed in 38 of the pregnancies.  Those women were offered amniocentesis to determine fetal karyotype, and follow-up transabdominal ultrasounds were performed at 20-24 weeks gestation.

22 of the fetuses (58%) had associated structural abnormalities.  11 of them also had chromosomal abnormalities (based on the 18 that had further testing).  19 of 22 of these pregnancies were terminated via abortion.  Two of the pregnancies ended in miscarriage, and in the pregnancy that went to term the omphalocele disappeared at 21 weeks gestation.  (That child ended up being completely healthy.  Its omphalocele was small and contained only a few intestinal loops.)  In this group of 22, herniation of the liver into the omphalocele was detected in five of these 22 fetuses; cardiac anomalies were detected in 13; cystic hygroma in 13; limb anomalies in 8; and renal anomalies in 7.

The second group of 16 fetuses (42%) has no other abnormalities (including normal chromosomes).  In half of these pregnancies (8 of them), the omphalocele disappeared at 20-24 weeks gestation, and the babies were born healthy.  In each of these 8 pregnancies where the omphaloceles resolved, the omphaloceles were small and contained only a few intestinal loops.  In 6 of the pregnancies, the omphaloccele remained at delivery, all of which were treated surgically.  One of the pregnancies miscarried, and one was aborted.  Herniation of the liver was not observed in any of the isolated omphalocele fetuses.

The article notes that there were no false-negative diagnosis of omphalocele.

The study’s conclusion was that an isolated omphalocele (i.e. chromosomally normal, no other abnormalities) diagnosed early in pregnancy may resolve if it is small.  That’s really good news and not something I’d read in any other article.  The authors recognize that their conclusions are not consistent with other published studies, and suggest that this may be because they were diagnosing relatively early with transvaginal ultrasound, so they were picking up even very small defects that an abdominal ultrasound might not pick up.  Also, the omphaloceles that did not resolve by 24 weeks did not resolve by delivery.  So for women who do not have their first ultrasound until 20 weeks, they may not even know that there was an issue early on, because the omphalocele resolved by the time they were checked.

The article notes that the incidence in literature of omphalocele varies from 0.8 to 3.9 cases per 10,000 births.  It also notes that associated structural anomalies have been noted in 27% to 91% of fetuses (large range!).  It also notes that chromosomal abnormalities have been observed in 20%–50% of cases (also a large range).  (I suspect these variations may depend on when the omphalocele is diagnosed?)  It also notes some of the 52 syndromes that are associated with omphalocele: Beckwith-Wiedemann syndrome, pentalogy of Cantrell, and omphalocele exstrophy imperforate anus spinal defects syndrome.

The occurrence of omphalocele in the study was 1/1,155, which is higher than other reported studies (usually around 1/4,900), likely because they were picking up some incidences that later resolved and may not have been diagnosed without the early transvaginal ultrasounds.  In other words, if your omphalocele is diagnosed after 20 weeks, it’s probably not resolving.  If the omphalocele is large (containing more than a few loops of intestines), it’s probably not going away.  The study also showed that 29% (11/38) had chromosomal abnormalities.  BUT, removing the omphaloceles that resolved,  38% (11/29) had chromosomal abnormalities.  58% of the omphaloceles (22/38) diagnosed had associated structural abnormalities.  BUT, removing the omphaloceles that resolved, 76% (22/29) had associated structural abnormalities.  (These differences might explain the wide range in the literature of incidence and association with other abnormalities.)

The article also acknowledges that it may not be possible to detect all abnormalities in utero.

The charts from the article were also super interesting, and are reproduced below.

TABLE 1

Characteristics of Fetuses with Omphalocele Associated with Other Structural Anomalies Detected Early in Pregnancy

No.	Mom Age (y)	Gest Age (wk)	Associated Anomalies*	Karyotype†	Outcome
1	34	14	Hydronephrosis, horseshoe kidney, nonseptated cystic hygroma, short limbs, VSD	Trisomy 18	Abortion
2	24	14	Horseshoe kidney, septated cystic hygroma, tetralogy of Fallot	Trisomy 18	Abortion
3	40	15	AVSD, cleft lip and palate, IUGR	Trisomy 18	Abortion
4	32	15	Diaphragmatic hernia, horseshoe kidney	Trisomy 18	Miscarriage
5	36	14	Abdominal cyst, AVSD, horseshoe kidney, septated cystic hygroma	Trisomy 18	Abortion
6	39	14	Coarctation of aorta, hydronephrosis, oligohydramnios, nonseptated cystic hygroma	Trisomy 21	Abortion
7	28	15	Nonimmune hydrops, septated cystic hygroma, short limbs	Trisomy 21	Abortion
8	39	15	Bilateral clubfoot, hydrocephaly, IUGR, tetralogy of Fallot	Trisomy 13	Abortion
9	30	12	Holoprosencephaly, oligohydramnios, proboscis, septated cystic hygroma	Triplody	Abortion
10	29	16	Horseshoe kidney, septated cystic hygroma, trigonocephaly	Triplody	Abortion
11	34	16	Dysplastic kidney, nonimmune hydrops, septated cystic hygroma	45, XO	Abortion
12	26	14	Clubfoot, hydrocephaly, tetralogy of Fallot	Normal	Abortion
13	21	15	Clubfoot, hydrocephaly, tetralogy of Fallot	Normal	Abortion
14	23	15	Clubfoot, hydrocephaly, tetralogy of Fallot	Normal	Abortion
15	24	14	Hyperechogenic cortex, IUGR	Normal	Abortion
16	26	16	Dandy-Walker malformation, oligohydramnios, septated cystic hygroma, severe heart malformation, short limbs	Normal	Abortion
17	30	16	Hydrops fetalis, septated cystic hygroma	Normal	Abortion
18	37	13	Anophthalmos, AVSD, holoprosencephaly, polydactyly, proboscis, septated cystic hygroma	Not performed	Abortion
19	33	13	Septated cystic hygroma, severe heart malformation	Not performed	Abortion
20	33	14	Arthrogryposis, clenched hands, DOLV, microtia	Not performed	Abortion
21	32	15	Septated cystic hygroma	Not performed	Miscarriage
22	36	15	Nonseptated cystic hygroma	Normal	Normal, omphalocele and other abnormality resolved at 21 weeks

AVSD = atrioventricular septal defect, DOLV = double-outlet left ventricle, IUGR = intrauterine growth restriction, VSD = ventricular septal defect

Fetuses 7, 10, 15, 19, and 20 also had liver herniation in the omphalocele.

Wanna hear something terrible?  Fetuses 12-14 were siblings.  Some poor woman had THREE affected pregnancies.  Awful.

Okay, HERE’s the good news:

TABLE 2

Characteristics of Fetuses with Isolated Omphalocele Detected Early in Pregnancy

No.	Mom Age (y)	Gest Age (wk)	Outcome
1	30	15	Omphalocele surgically treated, healthy newborn
2	26	15	Omphalocele surgically treated, healthy newborn
3	22	16	Omphalocele surgically treated, healthy newborn
4	25	16	Omphalocele surgically treated, healthy newborn
5	27	16	Omphalocele surgically treated, healthy newborn
6	28	16	Omphalocele surgically treated, healthy newborn
7	27	14	Miscarriage
8	26	15	Abortion
9	28	14	Normal, omphalocele disappeared at 20 weeks gestation
10	32	15	Normal, omphalocele disappeared at 20 weeks gestation
11	26	15	Normal, omphalocele disappeared at 20 weeks gestation
12	32	15	Normal, omphalocele disappeared at 22 weeks gestation
13	19	15	Normal, omphalocele disappeared at 22 weeks gestation
14	29	15	Normal, omphalocele disappeared at 23 weeks gestation
15	36	16	Normal, omphalocele disappeared at 24 weeks gestation
16	35	15	Normal, omphalocele disappeared at 22 weeks gestation, small umbilical hernia at birth

Babies 1, 6, 13, and 16 were each one half of a twin set.

So, what does this tell me?  Well, that there is some (small?) reason to be hopeful IF the omphalocele is small, detected early, and isolated.  It also tells me that in the case of additional abnormalities, these patients were being counseled about their baby’s chances of a healthy happy life and were almost universally choosing termination.  I think my husband and I are in the same boat. If we just have an isolated omphalocele (especially a small one), we will likely try to carry and hope things work out.  If we have a chromosomal abnormality, or other syndrome, or other abnormalities, we will likely terminate.

We will have to wait until next week to see if we have reason to have any hope.  Obviously the fact that it appears there are two other abnormalities—one of which (the spinal issue) appears to be an independent reason to terminate—are not good.  But hope springs eternal.