by CHERUBS-The Association of Congenital Diaphragmatic Hernia Research, Advocacy, and Support

The following articles are compiled of results from our Congenital Diaphragmatic Hernia Research Survey and a study also conducted on the Parent Worksheets that we receive from our parent-members in order to join CHERUBS. These articles include 2 separate studies; the first based on the worksheet and the second based on our CDH Research Survey. Our original intention was to only include the results of very indept CDH Research Survey, but we decided to include the Worksheet survey to give a more "overall view". Participation in the CDH Research Survey was voluntary by members whose children were deceased or over one year of age. All surveys returned were included in this study. All questions on the survey and worksheets were answered to the best of the parents' knowledge. The accuracy of these studies depends on the accuracy of the parents' answers. Many of the members who participated in the survey are also included in the worksheet study. This study was conducted for the purpose of analyzing the medical histories of our members in order to find "coincidences" that may help the medical world find a cause, prevention, or better treatment of CDH. That is our goal and whether we succeed now or someday in the future, we thank all of members for their assis tance.

Results of our Parent Worksheet Study

Some parent worksheets were not included in this study, so the results of the study are not based on all our members. Worksheets not included in this study were omitted because of lack of information provided on forms, forms filled out by expectant parents, and forms returned to parents for updates at the time this study was conducted.

Polyhydramnios Over 15% of the mothers of our survivors suffered from ; all of the survivors being male. None of mothers of female survivors suffered from polyhydramnios. Over 41% (5) of our non-survivors suffered from polyhydramnios; 2 males and 3 females. Over 13% of our total members included in this survey suffered from polyhydramnios; with a higher number of males than females. According to medical research. Polyhydramnios is present in about 80% of with CDH1; this is drastically different from our findings, perhaps because so many of our members do not know what polyhydramnios is, many more of our members may have had this condition without knowing the medical term or being told by their doctors that it was present. It has been reported that the survival rate is 55% when polyhydramnios is present and 11% when it is not present2 . The cause of polyhydramnios is not known.

Sides and types of CDH

48 (76.19%) of our cherubs in this study had left-sided CDH; 15 (23.81%) had right-sided CDH; and 1 (1.59) had bilateral CDH. More survivors (27.45%) than non-survivors (8.33%) had right-sided CDH. Over 65% of our members included in this survey do not the type of CDH that their child has. Most answered "?" in the parent worksheet blank for "type of hernia", meaning that most of our members did not know their were different types of CDH. The medical world has classified CDH into different types to better identify the locations of the hernias. The location of the hernia is very important in diagnosing the probabilities of organs involved and survival rates. In most studies, 80% of posterolateral CDH have been reported to happen on the left side3 . Bilateral (both sides) posterolateral CDH is extremely rare, with only 11 reported cases4 . Morgagni (retrosternal) CDH accounts for only 2% of all diaphragmatic defects5 . Morgagni hernias are more common on the right side but are bilateral in 15% to 30% of cases.6 The percentage of Morgagni CDH (2.13%) in our survey very closely follows the norm; with the exception that 50% (1) of the Morgagni hernias in this survey were left-sided and the other 50% (1) were right-sided. Bilateral Comp lete agenesis of the diaphragm is rare and usually occurs with multiple other birth defects; the survival rate for this type of CDH is extremely low. We are fortunate to include a survivor of bilateral complete agenesis of the diaphragm in our membership. Absence of one hemi-diaphragm (half of the diaphragm), although rare, most commonly affects the left side. Over 12% of our cherubs included in this survey listed "agenesis" under "type of diaphragm" on our worksheet. The number of non-survivors, 4 (33.33%), was considerably higher than the rate of survivors, 3 (7.84%) with agenesis of the hemi- diaphragm. These numbers are extremely high in comparison to medical studies. This leads us to believe that these numbers are most likely inaccurate, probably due to misunderstanding more than misdiagnosis. Perhaps some of our parents heard "There is no diaphragm on the left/right side" when their surgeon said "There is hardly any diaphragm on the left/right side". Sometimes doctors list "agenesis" when their is actually a very large hole in the diaphragm but their is also a "rim" or ring of diaphragm muscle. Since we do not have the medical records of any of our members it is impossible for us know the true type of diaphragmatic hernia in any of our cherubs.

Family History

7 (11%) of our cherubs in this study had siblings affected by birth defects (1 spina bifida occulta, 1 anacephaly, 1 Cornelia de Lange Syndrome w/out CDH, 1 Down's Syndrome, 1 autism, 2 Fryn's Syndrome w/CDH (siblings). 2 members are twins (fraternal, siblings-normal). Also among the family members of our cherubs are; 1 father also diagnosed with CDH (Morgagni), 1 premature sibling, 1 stillborn sibling, 1 sibling diagnosed with cancer, and a set of parents with non-congenital mild mental retardation. 40% of our cherubs do not have siblings. Only one family had a 2nd child born with CDH; both babies also had Fryn's Syndrome, a genetic abnormality. Medical research has found a 2.5% chance of having more than one child with a . Our rate here is over 4 times that amount.

Prenatal Diagnosis

21 (33.33%) of our cherubs were diagnosed in utero; 18 were survivors (34.28%), 7 (58.31%) were non- survivors. 16 of the 25 not diagnosed had multiple birth defects. 3 members with polyhydramnios were not diagnosed with CDH in utero. The medical world reports that 58.3% of cases that underwent ultrasonography were prenataly diagnosed. This is twice the number that our survey found. In 6 cases, no ultrasound was performed. All prenataly-diagnosed cases were diagnosed by ultrasound. 47.7% (30) mothers had AFP test performed, only 1 was elevated; the rest were reported normal. 24 members had amniocentesis done; none were reported abnormal. Amniocentesis was not performed on any of our members with genetic abnormalities.

Medical Procedures

2 of our members underwent in utero procedures, neither survived. 32 (50%) of our members went on ECMO; 49% of survivors, 58% of non-survivors. We could not find the average percentage of CDH patients who receive ECMO support in medical journals, those most members report being told of a 50% ECMO rate. The average time our members spent on the ventilator 35.7 days (excluding those who are/were vent dependent. 5 (8%) members (all male survivors) are/were vent dependent (4 still use the ventilator at night). The shortest time spent on the vent is 1 day; the longest is 22 years. 18 (29%) members (17 survivors, 1 non-survivors) are/were oxygen dependent. Members were considered oxygen dependent if they spent more than 6 months on oxygen; 11 male, 7 female.

CHART DEFINITIONS

Types of Diaphragmatic Hernia

Bochdaleck CDH-(posterolateral) an opening through the left diaphragm between the chest cavity and abdominal cavity toward the back of the body. It is the most common form of diaphragmatic hernia and usually occurs on the left side.

Bilateral Agenesis of the Diaphragm- hernia affecting both sides of the diaphragm. This is an extremely rare condition.

Morgagni- (retrosternal) diaphragmatic hernia occurring near the front of the body, near the breastbone. Only 2% of CDH cases are Morgagni types.

Agenesis of the Diaphragm- complete absence of the diaphragm (there is absolutely no diaphragm at all on either side). This is extremely rare.

Agenesis of the Hemidiaphragm- absence of one side of the diaphragm; extremely uncommon.

Polyhydramnios- a condition of excess amounts of ; usually an indicator that something is could be wrong with the .

AFP- (alpha-fetoprotein) a test performed on pregnant women that can possibly identify fetal abnormalities by measuring the maternal serum level; usually performed at 16-18 weeks of gestation.

Mean-average

Agenesis - absence

Gestational age- age of child during (measured in weeks) Prematurity- a condition of giving birth before 37 weeks of pregnancy

Types of Surgical Repair-

Tissue/Muscle (some surgeries involve using tissue or muscle from other parts of the patients body to repair the hernia)

Synthetic Material (manufactured material used to repair the hernia; Gortex, Marlex, etc.)

Sutures only (surgical repair in which the hole in the diaphragm is so small only sutures are needed to repair the hernia)

CHART KEY y- years, d- days, w- weeks

PARENT WORKSHEET DATA

SURVIVORS NON-SURVIVORS

Total Total M F Total (%) M F

51 30 21 12 8 4

Location of Hernia

Left-Sided 37 21 15 11 (91.67) 8 3 (72.55)

Right-Sided 14 9 5 1 (8.33) 0 1 (27.45)

Bilateral 1 (1.96) 0 1 0 0 0 Type of CDH

Posterolateral 10 6 4 1 (8.33) 1 0 (19.61)

Morgagni 2 (3.92) 0 2 0 0 0

Agen. of Hemi-Diaphragm 4 (7.84) 4 0 4 (33.33) 2 2

Comp. Agen. of Diaphragm 1 (1.96) 0 1 0 0 0

Unknown 34 20 14 7 (58.33) 5 2 (66.66)

Pregnancy History

Polyhydramnios 8 (15.68) 8 0 5 (41.65) 2 3

Mean Mothers' Age 29.6y 29.5y 29.6y 28y 30.5y 24.3y

Mean Fathers' Age 31.7y 31.4y 32y 33.7y 34.8y 32y

Prenatal Tests

AFP Test 23 17 6 7 (58.31) 4 3 (45.08)

Ultrasound 46 27 19 11 (91.63) 7 4 (90.16)

Amniocentesis 16 12 4 8 (66.64) 5 3 (31.36)

Birth History

Mean 38.6w 38.4w 37w 37.4 37.8 36.6

Mean Birth Weight 6.71lbs 6.8lbs 6.74lbs 6.3lbs 6.2lbs 6.53lbs

Number Premature 8 (15.69) 6 2 4 (33.33) 2 2

Delivery

Vaginal Delivery 33 19 14 8 (66.64) 5 3 (64.68)

C-Section Delivery 13 9 4 3 (24.99) 2 1 (25.48)

Unanswered 5 (9.8) 2 3 1 (8.33) 1 0 Diagnosis

In Utero 18 13 5 7 (58.31) 3 4 (35.28)

At/ shortly after birth 33 17 16 5 (41.69) 5 0 (64.72)

Procedures

In-utero procedure 0 0 0 2 (16.7) 1 1

ECMO 25 (49) 16 9 7 (58.31) 4 3

Mean vent time 38d 40.2d 33.8 33.4d 44d 20.8d

Mean oxygen time 56.4d 69.2d 33.4d 64d 86.4d 32.3d

Vent dependency 5 (9.8) 5 0 0 0 0

Oxygen dependency 17 10 7 1 (8.33) 1 0 (33.33)

Surgical Repair

# Synthetic Patch Used 15 9 6 3 1 2

Tissue/Muscle Used 4 2 2 0 0 0

Only sutures used 7 6 1 1 0 1

Unknown 26 16 10 3 (25) 1 2 (50.98)

No Repair Performed 0 0 0 3 (25) 3 0

Multiple Repairs 7 (13.73) 4 3 1 (8.33) 1 0

Associated Anomalies

None 24 15 9 9 (75) 6 3 (47.06)

Multiple 27 15 12 3 (25) 2 1 (52.94)

Non-Chromosomal Syn. 1 (1.96) 1 0 2 (16.66) 1 1

Chromosomal Anomalies 1 (1.96) 1 0 0 0 0

Trisomies 2 (3.92) 1 1 0 0 0 Unknown 1 (1.96) 1 0 0 0 0

Feeding Problems 38 23 15 2 (16.66) 1 1 (74.51)

Developmental Delay

Known Delay 19 12 7 1 (8.33) 0 1 (37.25)

No Delay 20 11 9 0 0 0 (39.22)

Unanswered/unknown 12 6 6 11 (91.66) 8 3 (23.53)

Family History-CDH 2 (3.92) 0 2 2 (16.66) 1 1

Mean Hospital Stay 90.1d 98.3d 75.6d 77d 87d 70.75d

Mean Present 4.6y 3.6y 9.2y 96d 89.9d 108d Age

COMPLICATIONS (51%)

Feeding Problems 37 Severe Chronic Asthma 3

Developmental Delay 20 Seizure Disorders 2

Oxygen Dependency 19 Sight Impairment 2

Blood Infections 12 Cerebral Palsy/Brain Damage 2 Severe Reflux 10 BPD 2

Pneumonia 8 Ulcers 2

Repeat CDH Repairs 7 Recurrent Otitis Media 1

Vent Dependency 6 Mild Spastic Diplegia 1

Hearing Loss 4 RSV 1

Nephritis 4 GI Bleeding 1

Scoliosis 4 Cryptosporidium Gastritis 1

Bowel Adhesions 3 1

Intracranial Bleeding 3 Lymph Nodes Cut During Repair 1

Pulmonary Hemorrhage 3

49 (77.8%) of our members developed complications during or after their hospitalization. 14 members had no complications. Complications are fairly common in long hospitalizations and especially after such delicate surgery as CDH repair. Some infections such as blood infections and viruses can be avoided with hand washing and sterile environments. That is why we are required to wash our hands before we visit our children in the intensive care units. Doing this, and reminding doctors and nurses to do this also, has been proven to prevent many bacterial infections. Feeding problems and developmental delay are very hard to avoid after long hospitalizations but can be made easier through various types of therapies. Hopefully someday soon the medical world will find a way to repair CDH surgically with material(s) that will "grow" with our children; so many times the patches are torn during growth and organs reherniate into the chest cavity. Finding this would prevent repeat CDH repairs. Hearing loss and intracranial bleeding has been associated with the use of ECMO. It is hard to tell whether scoliosis is congenital or the result of manipulating organs and muscle. Cerebral palsy and brain damage are the results of traumatic assaults on the brain, such as the loss of oxygen. Always keep in mind the types of medication patients are on before testing for cerebral palsy and brain damage (some medications can "mask" the true abilities of the brain's functions). Sight impairment can also be caused by lack of oxygen.

Associated Birth Defects (46.77%)

Gastrointestinal 15 30 (47.6%) of our cherubs included in the Parent Worksheet survey had other birth defects along with CDH. This closely follows medical research of a 50% incidence of associated Craniofacial 9 anomalies (birth defects)5 . 33 of our cherubs only had CDH. 50% of survivors and 25% of non-survivors had associated anomalies. We urge all of our members to seek genetic Cardiovascular 8 counseling, especially when more than one birth defect is present. When there is more than one birth defects and all organs affected are formed during the same stage of Central 8 pregnancy, there is a chance that an environmental factor may the cause. Also, when a pattern of birth defects is found, the Skeletal 6 cause may be genetic. Only after a genetic counselor has reviewed medical records and examinations and testing have been done, can a diagnosis be made. 5 of our survivors and 2 Genitourinary 5 of our non-survivors in this study have been diagnosed with syndromes or chromosomal anomalies.

Chromosomal Anomalies 4

Limb and Extremeties 2

Non-Chromosomal Syndromes 2

Kidney 2

Spleen 1

Timing of Due Dates and Formation of CDH

(based on 63 Parent Worksheets)

no.

Information based on birth dates and gestational age at time of birth. A menstrual calendar was used to determine due dates and 8th weeks of pregnancy. The diaphragm is forms around the 8th week. The reason we compiled this information is to see if there were any seasonal trends. Some medical studies have researched the possibilities that CDH can be caused by pesticides. Most crops are sprayed with pesticides and herbicides early in spring and early in fall. Our results find the number of babies whose diaphragms were formed was slightly high in the fall, but low in the month of April. Another "guess" in the cause of CDH is high temperatures. This idea does not seem to correspond with our graph. One more "guess" is high amounts of stress. All of low months seem to correspond with major holidays, with the exception of February. Due dates seem to be fairly evenly distributed, with the exception of January.

Congenital Diaphragmatic Hernia Research Survey

Side Type Year Religous Prenatal Case Ethnic Group Pregnancy Length of Sex of of of Affiliation Vitamins no. (mom/dad) complications Pregnancy CDH CDH birth (mom/dad) Taken

FrenCan- anemia, poly, S1 M L Boch 1993 AmIn/ Scot- Cath/Meth threatened misc, N 38w Irish dehy

S2 F L Agen 1992 Germ/Croat Luth/Cath anemia N 42w

S3 F L Agen 1992 Germ/Czech Bapt/Meth 3-none Y 37w

S4 M R BPNA 1975 u-a/Germ-It u-a/u-a n/a Y u/a

gestational S5 M R u/a 1993 "white/white" Bapt/Bapt Y n/a diabetes S6 F R CAgen 1993 "Am/Am" SevD/SevD anemia Y 36w

Germ- S7 M L u/k 1992 Cath/Prot Y 37w Hn/Germ

S8 M L u/k 1995 u-a/u-a Meth/Meth N 42w

S9 M L u/k 1993 "white/white" Cath/Cath Y 34w

S10 F L Boch 1995 It/AmIn u-a/u-a Y 40w

Germ-Slov/ S11 M L u/a 1992 Cath/Cath poly,toxemia Y 39w Croat

S12 M L u/a 1995 "Am/Am" Luth/Cath Y 39w

S13 F L Boch 1995 "white/white" Epis/Meth Y 38w

S14 M R Boch 1995 "Am/Am" Prot/Prot Y 42w

S15 M L u/a 1992 "white/white" CharChrist/ u-a Y 39w

S16 M L u/a 1982 "Am/Am" Bapt/Bapt N 36w

S17 M L Boch 1995 Pol-Ir-Germ Christ/ Christ Y 42w

Ir-Germ/ Ir- S18 F L Agen 1993 Cath/Cath anemia Y 39w Germ

S19 F L u/a 1994 AsIn/AsIn Hindu/ Hindu anemia Y u/a

S20 F L Boch 1994 British/British ChEng/ ChEng Y 38w

S21 F L Agen 1997 "Am/Am" Meth/Bapt Y u/a

D1 M L u/a 1995 "Am/Am" Christ/ Christ anemia Y 32w

AmI-Eng- D2 F L Agen 1994 Germ It/It- Bapt/Cath poly N 38w Danish

AmI-Eng- D3 M L Agen 1995 Germ It/It- Bapt/Cath poly Y 34w Danish

poly,anemia, D4 M L Boch 1995 "Am/Am" SBapt/SBapt Y 37w PRM

D5 F R Agen 1995 "Am"/PR Cath/Cath poly, anemia N 32w

D6 M L u/a 1989 Eng-Germ/It Pres/Pres D/K 40w Hun

D7 M L Agen 1996 "Am/Am" Bapt/Bapt Y 38w

D8 F L u/a 1996 Can/Can SevD/SevD Y 34.5w

KEY

S5-survivor case #5, D5- deceased case #5, F-female, M-male, L-left, R-right, Y-yes, N-no, D/K-don't know, w-weeks, lbs-pounds, oz-ouncesAgen- Agenesis of the Hemi-Diaphragm, Boch- Bochdalek, CAgen- Complete Agenesis of the Diaphragm, Am-American, AmIn-American Indian, AsIn-Asian Indian, Can- Canadian, Croat-Croatian, Czech-Czechoslovacian, Eng-English, Fren-French, FrenCan-French Canadian, Germ-German, Hun Hungarian, Ir-Irish, It-Italian, PD-Pennsylvania Dutch, Pol-Polish, PR-Puerto Rican, Scot-Scottish, Slov-Slovinian, u-a-unanswered. Bapt-Baptist, Cath-Catholic, CharChrist-Charismatic Christian, Christ-Christian, ChEng-Church of England, Epis -Episcopalian, Luth-Lutheran, Pres- Presbyterian, Prot-Protestant, SevD-Seventh Day Adventist, SBapt-Southern Baptist, ua=unanswered poly- polyhydramnios, PRM-premature rupture of membranes, home-delivered at home

Patient Type of Birth Ultrasounds Age at No. of Type(s) of Time on Time on no. Delivery Weight Done time of CDH CDH repairs ECMO vent (No./Findings) diagnosis repairs

S1 V-forceps 6lbs9oz 2-none birth 5 abdwl mus-1x none 2.5 years lung tis -1x Gortex-3x

S2 V 7lbs 1-none birth 1 spleen mus 2 weeks 2.5 weeks

S3 V-forceps 5lbs 3-none birth 1 mesh 20 days 5 months

S4 V 5lbs10oz u/a birth 1 u/k none 22 years

S5 V 9lbs9oz 20-CDH 28w iu 1 sutures 10 days 6 weeks

S6 C 7lbs1oz 2-none birth 1 Gortex none 29 days

S7 C 5lbs13oz 5-CDH 26w iu 1 sutures none u/a

S8 V 9lbs6oz 0 birth 1 u/k 21 days 32 days

S9 V 4lbs11oz 2-none birth 1 u/k 2 days 2 weeks

S10 V-home, 8lbs15oz 2-none birth 3 Gortex u/k u/a br

S11 C 6lbs1oz 8-CDH 30w iu 1 Gortex 8 days 1 month S12 V 7lbs8.5oz 3-CDH 28w iu 1 sutures none 2.5 weeks

S13 C 6lbs11oz 3-CDH 36w iu 1 Gortex 17 days 2 weeks

S14 V-forceps 8lbs 2-none birth 1 sutures 6 days 3 weeks

S15 V-forceps 8lbs13oz 6-CDH 16w iu 3 Gortex 10 days 4 years

S16 V 4lbs11oz 0 birth 1 u/k u/k u/a

S17 V-forceps 8lbs5oz 3-none birth 1 Gortex 3 days 1.5 weeks

S18 C 8lbs5oz 12-CDH 16w iu 1 sutures 6 days 28 days

S19 C 5lbs 2-none birth 1 u/k 10 days 3.5 weeks

S20 V 6lbs7oz 2-CDH 22w 1 Gortex none u/a

S21 V 7lbs13oz 0 birth 1 groin mus none none

D1 C 4lbs4oz 3-CDH 18w iu 2 Gortex 8 days 3 months

D2 V-forceps 6lbs15oz 30-CDH 32w iu 1 Gortex none 2.5 months

D3 V 6lbs13oz 6-CDH 16w iu 0 Gortex u/k 1.5 hours

D4 C-att 5lbs15oz 2-bl poly birth 0 11 days 12 hours u/a .forceps

D5 V-suction 6lbs6oz 5-CDH 32w iu 1 u/k 3.5 weeks 3.5 weeks

D6 V 6lbs11oz 7-none birth 0 u/k u/a u/a

D7 V-suction 7lbs7oz 0 birth 1 u/k 1 week 7 days

D8 C 4lbs13oz 20-CDH 16w iu 1 Gortex 21 days 27 days

KEY suction-suction used to remove baby, C-Cesearean Section, V-Vaginal, blpoly-borderline poluhydramnios, w iu weeks in utero, birth-within 24 hours of birth, tis -tissue, mus-muscle, abdwol-abdominal wall, u/k- unknown, mesh (Gortex, Marlex, etc.: synthetic patches)

Patient Time on Time spent in Feeding Develop- Multiple Compli- Cost of Age at no. oxygen hospital problems mental birth cations medical time of delay defects care death

S1 2.5 years 10months yes yes yes yes $4,000,000

S2 2.5 years 6 months yes yes no yes $500,000

S3 1.5 years 3 months yes no yes yes $350,000

S4 22 years 2 years yes no no yes $1,500,000

S5 6 months 5 weeks yes yes yes yes $300,000

S6 31 days 4 months yes yes yes yes d/k

S7 u/a 24 days no no no yes $52,000

S8 5 months 8 weeks yes no no yes $500,000

S9 2 weeks 3.5 weeks yes yes no yes $500,000

S10 u/a 14 days no yes yes yes $200,000

S11 2 month 3 months yes yes yes yes d/k

S12 1 day 4 weeks no yes no no $500,000

S13 1.5 years 7 months yes yes yes yes $800,000

S14 4 weeks 7 weeks no no yes yes $300,000

S15 4 years 3 months yes yes yes yes $1,500,000

S16 1 month 1 month no no no no $3,500,000

S17 4 weeks 5.5 weeks yes no no yes $275,000

S18 30 days 48 days yes no no no d/k

S19 2 years 2 months yes no no yes d/k

S20 u/a 5 weeks yes yes yes yes d/k

S21 none 10 days yes no yes no d/k

D1 4.5 months 4.3 months yes u/k no yes $1,500,000 143 days D2 2 months 7 months yes yes yes yes $2,500,000 360 days

D3 1.5 hours 1.5 hours u/k u/k yes yes $8,000 1 day

D4 u/k 12 days u/k u/k no yes $145,000 12 days

D5 3.5 weeks 29 days u/k u/k no yes d/k 29 days

D6 u/k 1 day u/k u/k no yes d/k 1 day

D7 u/a 1 week u/k u/k yes yes $125,000 7 days

D8 27 days 27 days u/k u/k no yes d/k 27 days

KEY

u/a-unanswered, d/k-don't know

We studied the ethnic groups, religious affiliations, and parental ages of our members in our CDH survey for one reason; some ethic and religious groups are more prone to genetic disorders. The Jewish community has a high incidence of Tay Sachs, people of African descent have a higher incidence of Sickle Cell Anemia, some European groups have a high rate of Thalasemia Major, the incidence of Down's Syndrome is much higher in babies born to older mothers, etc.. In the charts below; 1 set of parents are counted twice because they have 2 children included in this survey and parents with mixed ancestry are counted in the all the ethnic groups they listed.

Parental Ages Parental Ethnicity Parental Religious Affiliations

(years) mothers fathers mothers fathers mothers fathers 19 1 "American" 9 8 Baptist 6 4

20 1 American 3 1 Catholic 6 8 Indian

23 2 Asian Indian 1 1 Charismatic 1 Christian 24 3 Canadian 1 1 "Christian" 2 2

25 1 1 Croatian 2 Church of England 1 1

26 3 2 Czechoslovakian 1 Episcopalian 1

27 1 2 Danish Hindu 1 1

28 3 2 English (British) 4 1 Lutheran 2

29 1 1 French 1 Methodist 2 4

30 1 2 French Canadian 1 Presbyterian 1 1

31 3 2 German 8 4 Protestant 1 2

32 1 1 Hungarian 1 1 Seventh Day 2 2 Adventist

33 1 3 Irish 2 2 Southern Baptist 1 1

34 2 1 Italian 3 4 Unanswered 2 3 35 2 2 Pennsylvania 1 Dutch 36 2 Polish 1

37 1 2 Puerto Rican 1

38 3 2 Scottish 1

39 1 Slovinian 1

41 1 "White" 4 4

45 1 Unanswered 2 1

We studied the occupations of parents and grandparents to learn about levels of stress and environmental exposures on the job. The category of clerical wok includes book-keepers, secretaries, bank tellers, office assistants, accountants, office managers, etc.. "Military" includes all branches and all fields of the military. "Metal work" includes welders, tool grinders, etc.. "Transportation" includes car mechanics, body shop workers, train conductors, bus drivers, truckers, etc.. "Construction" includes architects, surveyors, boat builders, woodworkers, engineers, construction workers, (anyone exposed to building materials), etc.. "Medical" includes doctors, nurses, and therapist. "Computer" includes computer operators, computer repair, etc.. "Security Enforcement" includes civilian police, detectives, security guards, lawyers, etc.."Education" includes school teachers and day care teachers. "Chemistry" includes, chemists, chemical sales, etc.."Botanical Work" includes plant nursery workers, farmers, etc..

Number of pregnancies, , Occupations of Parents and Grandparents Family Medical Histories mothers fathers grandparents Survivors (21) Abnormal Ears- 1s, 1f

Airplane Pilot 1 Siblings 20 Abnormal Ovary- 1m

Botanical Work 1 2 Miscarriages 14 Anorexia- 1m

Chemistry 1 1 Stillbirths 1 Asthma- 1c, 2gp, 3m, 3u, 1a

Clergy 2 Premature 1 Autism- 1s, 1u Births

Clerical Work 9 2 21 Nonsurvivors (8) Beta Thalassemia Minor- 1u

Computer 2 1 Siblings 7 Bulemia- 1a Work

Construction 7 8 Miscarriages 4 Cancer- 3m, 3a, 1u, 15gp

Cosmetics 1 Stillbirths 1 Diaphragmatic Hernia- 2s, 1a Custodial Work 4 M-Grandmothers (29) Diabetes- 1gp, 1m-gestational

Education 5 6 Miscarriages 8 Cornelia deLange Syndrome-1c

Electricians 4 Stillbirths 6 Displaced Anus- 1s

Factory Work 1 4 Premature 4 Down's Syndrome- 3c

Fireman 1 P-Grandmothers (29) Ectodermal Dysplasia- 1c

Food service 1 1 Miscarriages 8 Epstein's 1c

Homemakers 8 24 Stillbirths 1 Fryn's Syndrome- 2s

Logging 1 Heart Murmurs-3m, 2gp, 3u, 3c

Medical 3 4 *Number of brothers and sisters High Blood Pressure- 21gp of patients; patients not Metal Work 2 included. Hirchsprung's Disease- 1s

Military 5 3 Hypoplasic Nails - 2s

Postal Work 1 Lyme's Disease- 2f, 1m

Sales 2 8 Manic Depression- 1m

Security/Police 1 2 1 "Multiple Birth Defects"- 1c

Telephone Repair 1 5 Oral Clefts- 2s

Transportation 3 8 Rubella-Menieres Disease- 1m

Unanswered 5 Septated - 1m

Strokes- 11gp, 2m

Tilted Uterua- 2m

KEY: m-mother, f-father, gp-grandparent, s-sibling, c-cousin, a-aunt, u-uncle, m- Un-named Chromosomal Anomaly- 1c grandmother= maternal grandmother, p-grandmother= paternal grandmother

Additional Birth Defects

Additional birth defects were listed as written on CDH surveys by parents. They were divided into categories according to organ systems. The medical problems were included only if they were present at birth and not the result of complications.

Complications

Complications were listed in order of frequency. These medical problems are listed as complications if they occured after birth. Many of these problems can be avoided with sterile environments, handwashing, and avoiding persons with viruses; though most of these complications are the results of long and traumatic hospitalizations. We did not include lung hypoplasia because we thought the results were drastically off. Lung hypoplasia means that there is not 100% of lung tissue in both lungs. Less than half of the surveys listed lung hypoplasia, a very common of CDH. It is the result of abdominal organs pressing into the chest cavity which stunt lung growth. With so many members listing agenesis of the hemi- diaphragm under "Type of CDH", the numbers should have been much higher. It is fairly uncommon for a baby to have CDH and 2 full lungs.

Ventilator and oxygen dependency were listed if the patient spent more than 6 months on support. The number of repeated CDH repairs listed is the number of surgeries after the first CDH repair, not the total number of members who had more than 1 repair; some members had more than 2 repairs.

Organs Located In The Chest Cavity At The Time Of Repair

These numbers are the total number of organs in first and subsequent repairs. Not all of our nonsurviving members underwent CDH repairs.

Pregnancy History

This includes information about only the pregnancies of our cherubs, not the mothers' total pregnancies. It was studied to see if their were any "coincidences" about our pregnancies that could give us a clue that something is wrong. We asked the question about fetal hiccups because the diaphragm is the muscle that causes hiccups. Most of the other questions are about typical pregnancy symptoms and complications.

Additional Birth Defects

(in 14 of 29 babies with CDH) Pregnancy History very often yes no don't Cardiovascular 9 often remember Atrial Septal Defect 3 Prenatal Care 29

Supraventricular Tachycardia 1 Sleeping Problems 3 2 15 8 1

Mildly Malformed Microvalve 1 Morning Sickness 5 4 10 10

Malformed Subaortic Valve 1 Colds 19 10

Pulmonary Sequestration 1 1 2 15 9 2

Bronchopulmonary Dysplasia 2 Food Cravings 2 5 9 11 2

Gastrointestinal 8 Fetal Hiccups 3 5 8 9 3

Hirschsprung's Disease 1 Reduced Sex Drive 2 2 10 14 1

Partial Organoaxial Volvulus 1 Mood Swings 2 2 12 12 1

Short Esophagus 1 Heart Burn 3 2 9 12 5

Pyloric Stenosis 1 Dental Work 10 19

Displaced Anus 1 Fatique 4 5 17 3

Abnormal Rectal Nerve Ganglia 1 Breathing Problems 2 7 18 2

Organoaxial Twist 1 Polyhydramnios 3 1 4 18 3

Small 1 Anemia 2 2 4 20 3

Genitourinary 7 Bleeding Gums 1 5 23

Undescended Testes 3 Hot/Cold Sensitivity 1 5 19 4

Hypospadius 1 Flu 6 23

Chordee 1 Night Sweats 5 24

Hydronephrosis 1 Depression 5 24 Inguinal Hernia 1 Dehydration 4 25

Skeletal 3 Low Blood Pressure 1 1 2 24 1

Hemivertebra T3 1 Hair Loss 2 2 24 1

Chest Pectis 1 Hair Dye 4 25

Hypoplastic Nipples 1 Hair Permanent 4 24 1

Craniofacial 6 Unexplained Itching 1 1 1 25 1

Microcephaly 1 Allergies 1 2 25 1

Abnormal Ears 2 Unexplained Rashes 1 2 26

Brood Nose 1 Hyperemesis 1 1 22 5

Short Neck 1 2 27

Micrognathia 1 STDS 2 27

Oral Clefts 4 Time in a Hot Tub 1 1 27

Cleft Palate 1 High Blood Pressure 1 26 2

Soft and Hard Cleft Palate 1 Threatened 1 28

Soft Palate Into Esophagus 1 Premature Rupture of Membranes 1 28

Tracheoesophageal Cleft 1 Toxemia 1 28

Chromosomal Anomalies 4

Partial Trisomy 22 1

Partial Trisomy 14 1

Monosomal (yet un-named) 1

Possible TAS Syndrome 1

Limbs 2

Hypoplastic Nails 2

Non-Chromosomal Syndromes 2

Fryn's Syndrome 2

Spleen 1 Accessory Spleen 1

Complications (in 25 of 29 babies with CDH)

Blood Infections 38 Cerebral Palsy 3

Feeding Problems 18 Seizures 3

Pneumonia 14 Kidney Infections 3

Developmental Delay 12 Sight Impairment 3

Oxygen Dependency 10 Hydrocephalus 2

Repeated CDH Repairs 9 Pulmonary 2 Hemorrhage

Chronic Lung Disease 6 Clotted Superior 1 Vena Cava

Hearing Impairment 5 Mastitis 1

Ventilator Dependency 5 Bronchitis 1

Viruses 5 Perirectal Abcess 1

Chronic Asthma 5 Congestive Heart 1 Failure

Urinary Tract Infections 4

Organs Located In Chest Cavity At Time of Surgery (in 35 CDH Repairs)

Intestines 28

Stomach 25

Spleen 16

Liver 11

Kidney 2

Colon 2

Unknown 5

Parental Exposures Pregnancy Exposures

Before Conception During Pregnancy Vitamins 21 mother father mother Caffeine 19

X-rays 13 12 3 Prescription 14 Drugs

Natural Gas 12 11 15 Allergy 12 Medication Stress 17 14 15 Antacids 10

Computers 8 12 10 Tylenol 8

Aerosol Sprays 17 17 17 Painkillers 6 Solvents 6 7 8 Antibiotics 6

DEET 4 7 2 Aspirin 6

Paint 3 4 5 Anti- 4

Marijuana 5 5 1 Alcohol 4

Asbestos 4 5 1 Vaginal 4 Medications Agriculture Spraying 6 5 2 Laxatives 3

High Temperatures 4 5 3 Anaethesia 2

Diazanon 5 3 Artificial 2

Fiberglass 3 5 Asthma 1 Medication Insect Repellant 3 5 1 Thyroid 1 Medication Diesel Fuel 7 Diabetes 1 Medication

Glues 2 5 5 Contraceptives 1

Rubella 3 4

Industrial Chemicals 2 5 2

Organic Solvents 2 2 1

Steroids 2 3

Muscle Relaxers 2 3

Chlordane 4 1

Photography Chemicals 3 1 1

Printing Inks 2 1 2

DDT 3 1

Lindane 3 1

Professional Spraying 1 2 1 References

Damaged Microwaves 2 2 2 PCBs 2 1 1

Xylene 2 1

Trichlorethylene 1 2 1. Adzick NS, Harrison MR, et al. Diaphragmatic Chemical Warfare 3 hernia in the fetus: prenatal diagnosis and outcome in 94 cases. J. Pediatr Surg 1985;20:357-61. Coal 2 1 2. Harrison MR, Adzick NS, et al. Fetal Benzocaine Sulfur 1 1 1 diaphragmatic hernia: fatal but fixable. Semin Perinatal 1985;30:206-14. Mercury 1 1 3. Puri P. Congenital Diaphragmatic Hernia. Curr Prob Surg 1994;31:785-856. Lead 1 1 4. Furuta Y, Nakamura Y, Miyamota K. Bilateral 2 congenital posterolateral diaphagmatic hernia. J Peditar Surg 1987;22:182-3. Uranium 1 1 5. David TJ, Illingworth CA. Diaphragmatic hernia Phenmetrazine 2 in the south-west of England. J Med Genet 1976;13:253-62. Heptachlor 2 6. Irving IM, Booker PD. Congenital Heptachlor Epoxy 2 diaphragmatic hernia. In: Lister J, Irving IM, eds. Neonatal Surgery. 3rd ed. London: Butterworths, Hashish 1 1990:199-220.

Aluminum 1 7. Torfs CP, Curry CJR, et al. A population-based study of congenital diaphragmatic hernia. Sodium Chloride 1 1 1 Teratology 1992;46:555-565.

Cocaine 1 8. Lewis D, Bowerman R, Hirschl R. Prenatal ultrasound frequently fails to diagnosed congenital diaphragmatic hernia. 27th Annual Meeting of the American Pediatric Surgical Association; 1996; poster exhibit.

1998 CDH Survey Results

1999 CDH Survey Results