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.