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Population-Based Analyses of Mortality in Trisomy 13 and Trisomy 18

Sonja A. Rasmussen, MD, MS*; Lee-Yang C. Wong, MS; Quanhe Yang, PhD*; Kristin M. May, PhD; and
J. M. Friedman, MD, PhD

ABSTRACT. Objective. Although trisomy 13 and tri- ABBREVIATIONS. MACDP, Metropolitan Atlanta Congenital De-
somy 18 are generally considered to be lethal, long-term fects Program; MCMF, Multiple-Cause Mortality Files; ICD-9-CM,
survival of patients has been reported. We sought to International Classification of Diseases, Ninth Revision, Clinical Mod-
evaluate mortality in people with trisomy 13 or 18 using ification; NDI, National Death Index; CI, confidence interval;
2 population-based strategies. ICD-9, International Classification of Diseases, Ninth Revision.
Methods. In the first analysis, infants who had tri-
somy 13 or 18 and were born during 1968 1999 were

T
identified using the Metropolitan Atlanta Congenital risomy 18 and trisomy 13 are, respectively, the
Defects Program, a population-based birth defects sur- second and third most commonly diagnosed
veillance system. Dates of death were documented using autosomal trisomies in liveborn infants. Al-
hospital records, Georgia vital records, and the National though these conditions are associated with a high
Death Index. In the second analysis, we used the Multi- degree of infant mortality,1 longer survival has been
ple-Cause Mortality Files compiled from US death cer- reported.216 Studies have reported median survival
tificates from 1979 through 1997. Using these 2 analyses, times varying from 2.5 days17 to between 1 and 4
we examined median survival time or median age at months18 in trisomy 13, and from 2.5 days19 to 70
death, survival beyond 1 year of age, and factors associ-
days20,21 in trisomy 18. Some of these studies ascer-
ated with longer survival.
Results. Using Metropolitan Atlanta Congenital De- tained patients through personal communication or
fects Program, we identified 70 liveborn infants with literature reports and this may have introduced a
trisomy 13 and 114 liveborn infants with trisomy 18. bias toward longer survival. A study based on ques-
Median survival time was 7 days (95% confidence inter- tionnaires that were sent to members of a support
val [CI]: 315) for people with trisomy 13 and 14.5 days group for families of people with trisomy 13 and 18
(95% CI: 8 28) for people with trisomy 18. For each con- reported even longer survival: 38% of people with
dition, 91% of infants died within the first year. Neither trisomy 13 and 42% with trisomy 18 were still alive at
race nor gender affected survival for trisomy 13, but for age 1 year. However, as acknowledged by the study
trisomy 18, girls and infants of races other than white authors, that study was likely to be strongly biased
seemed to survive longer. The presence of a heart defect
did not seem to affect survival for either condition. Using
toward longer survival, because families with infants
MCMF, we identified 5515 people with trisomy 13 and who died shortly after birth would be less likely to be
8750 people with trisomy 18 listed on their death certif- members of the support group. Although some of
icates. Median ages at death for people with trisomy 13 the reported variability in survival may be the result
and trisomy 18 both were 10 days; 5.6% of people with of differences in diagnosis or patient treatment,19
trisomy 13 and 5.6% of people with trisomy 18 died at age differences in case ascertainment methods also seem
1 year or greater. Race and gender seemed to affect sur- to play a significant role. Thus, studies that use pop-
vival in both conditions, with girls and blacks showing ulation-based methods of ascertainment can provide
higher median ages at death. much-needed accurate data on mortality of people
Conclusions. Although survival is greatly affected by
with trisomy 13 or 18.
trisomy 13 and trisomy 18, 5% to 10% of people with
these conditions survive beyond the first year of life. Information on factors associated with long-term
These population-based data are useful to clinicians who survival are limited, but several studies have sug-
care for patients with these trisomies or counsel families gested that girls with trisomy 13 or 18 live longer
with infants or fetuses who have a diagnosis of trisomy than boys.20 25 Factors other than gender have not
13 or 18. Pediatrics 2003;111:777784; trisomy 13, trisomy been well studied. For example, despite the recent
18, survival, mortality. finding that survival of people with Down syndrome
is greatly affected by race,26 the effects of race on
trisomy 13 or 18 survival have not been carefully
From the *National Center on Birth Defects and Developmental Disabilities, studied. Some authors have suggested that the ab-
Centers for Disease Control and Prevention, Atlanta, Georgia; Health sence of heart malformations may be associated with
Investigations Branch, Division of Health Studies, Agency for Toxic Sub-
a longer lifespan,2,27 but others have noted that the
stances and Disease Registry, Atlanta, Georgia; Department of Pediatrics,
Division of Medical Genetics, Emory University School of Medicine, At- types of heart defects most commonly associated
lanta, Georgia; and Department of Medical Genetics, University of British with these conditions would not be expected to be
Columbia, Vancouver, British Columbia, Canada. lethal in infancy, even if not surgically treated.28
Received for publication Apr 30, 2002; accepted Sep 4, 2002. Some authors18 have suggested that certain cytoge-
Reprint requests to (S.A.R.) 4770 Buford Hwy NE, CDC, MS F-45, Atlanta,
GA 30341. E-mail: skr9@cdc.gov
netic forms (translocations and mosaics) may be as-
PEDIATRICS (ISSN 0031 4005). Copyright 2003 by the American Acad- sociated with longer survival than free trisomies, but
emy of Pediatrics. others have not noted this difference for transloca-

PEDIATRICS Vol. 111 No. 4 April 2003 777


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tions.29 Some have suggested that long-term survival admission records to local pediatric hospitals to determine the
of infants with trisomy 13 or 18 is associated with latest age that the person was documented as being alive.
For people with trisomy 13 or trisomy 18, we estimated the
more aggressive management and have proposed survival probability, including the median survival time, from
that the reason that recent studies show decreased birth by the Kaplan-Meier product-limit method35 for the entire
survival is because infants who have trisomy 13 or 18 study period. We also estimated median survival time and
and are born in recent years receive less aggressive Kaplan-Meier survival probability by period of birth (1968 1979,
1980 1989, and 1990 1999) and for possible prognostic factors,
care because caregivers expect them to die very including gender, race, and presence of a heart defect. We used
young.17,30 However, other authors have noted that Greenwoods method to calculate the 95% confidence intervals
long-term survivors have not received particularly (CIs) for the estimate of the survival probability and the sign test
aggressive or extraordinary care.31 Accurate descrip- method to calculate CIs for median survival time.36 We used the
tion of mortality and understanding of factors asso- log-rank test (SAS Institute, Cary, NC) to examine variation in
survival by period of birth and possible prognostic factors.
ciated with longer survival are important to clini-
cians who care for infants with these trisomies or
counsel families with fetuses or infants who have a MCMF
diagnosis of trisomy 18 or 13. We used MCMF data compiled by the National Center for
Health Statistics for 1979 through 1997. MCMF data include de-
We sought to evaluate mortality in people with mographic information and International Classification of Diseases,
trisomy 13 or trisomy 18 using 2 population-based Ninth Revision (ICD-9) codes for the underlying cause of death and
strategies. In the first, liveborn infants with trisomy up to 20 conditions listed on the death certificates of 40 million
13 or 18 were identified through a birth defects sur- people who died in the United States during this period.37 Death
certificates record death events only among live births; stillborn
veillance system, the Metropolitan Atlanta Congeni- infants are not included.38 MCMF data exist in entity axis format
tal Defects Program (MACDP). We calculated me- and record axis format. The entity axis format provides a separate
dian age of survival and assessed the impact of code for each disease listed on the death certificate whether it is an
factors such as race, gender, presence of heart defect, underlying cause or a contributory condition. The record axis
and period of birth. We compared these data with format uses linkage rules to combine some listings of conditions,
to determine the underlying cause of death and other contributory
those obtained from our second data source, Multi- conditions and their positions as listed on the death certificates.37
ple-Cause Mortality Files (MCMF), compiled from We selected all records that contained code 758.1 (trisomy 13) or
US death certificates. 758.2 (trisomy 18) anywhere in the record axis portion. From these
records, we excluded records that contained code 779.6 (pregnan-
cy termination).
METHODS We calculated median age at death over time for people with
trisomy 13 or with trisomy 18 by race (white, black, or oth-
MACDP er) and gender. An infant was classified as having a heart defect
We ascertained infants who were born with trisomy 13 or when any heart defect code (745.0 747.9) was listed on the death
trisomy 18 during 1968 1999 using MACDP, a population-based certificate. We used linear regression to test the trend of median
birth defects surveillance program. Since 1968, MACDP has ac- age at death by year and used the nonparametric median scores
tively monitored birth defects among fetal deaths and live infants method to test differences of median age at death by racial
who were born to women who resided within a 5-county metro- groups.39
politan Atlanta area. The program routinely collects clinical infor-
mation and demographic characteristics on infants with major RESULTS
birth defects. Trained abstractors collect information from birth
and pediatric hospitals, cytogenetic laboratories, and a referral Trisomy 13
center that provides services to children with congenital heart
MACDP
defects in the area. MACDP data include dates of death for some
people, primarily those who died while at a hospital in the During the period 1968 1999, 83 liveborn infants
5-county area. Additional details about MACDP have been pub- were coded as having trisomy 13. After review of the
lished elsewhere.32 cytogenetic data, we excluded 13 of these infants 6
To identify infants with trisomy 13 or 18, we used codes based
on the International Classification of Diseases, Ninth Revision, Clinical because their cytogenetic results were not available,
Modification (ICD-9-CM), 758.100 758.190 for trisomy 13 and 2 because they had mosaicism, and 5 because they
758.200 758.290 for trisomy 18. We reviewed available cytogenetic had other abnormalities involving chromosome 13.
data for all liveborn infants coded as having trisomy 13 or trisomy After these infants were excluded, we had data on 70
18 and included only infants whose diagnosis was cytogenetically
confirmed. Infants with free trisomy or a Robertsonian transloca-
liveborn infants, including 9 with Robertsonian
tion were included, but infants with mosaicism and those with translocations.
partial duplication of chromosomes 13 or 18 were excluded. We We identified the deaths of 69 of the 70 people
classified infants as having a heart defect when MACDP listed with trisomy 13. MACDP records captured 56
them as having a code for a heart defect (ICD-9-CM-based codes deaths, linkage with Georgia vital records identified
745.000 747.900). For our analyses, infants with minor cardiac
defects (eg, patent foramen ovale, patent ductus arteriosus, tricus- 12 additional deaths, and NDI linkage identified 1
pid insufficiency) or unconfirmed cardiac defects were not classi- additional death. Of the 70 people with trisomy 13,
fied as having a heart defect. 64 (91%) died during the first year of life. Five died at
When possible, we identified deaths using data from MACDP ages 1 year (383, 791, 818, 1000, and 1858 days). The
and from Georgia vital records. For people whose date of death
was unknown, we supplemented these data by linking MACDP
child for whom no date of death was available was
cases with deaths listed in the National Death Index (NDI), a last documented as being alive at 1117 days of age,
centralized index of death record information for 1979 through based on local pediatric hospital records.
1998, compiled by the National Center for Health Statistics. Details Among infants with trisomy 13, the estimated
on the NDI matching process are described elsewhere.33,34 For probability of survival to 1 month of age was 30.0%
people who had trisomy 13 or 18 and had no death record in
MACDP, Georgia vital records, or NDI, survival was censored at (95% CI: 19.3 40.7) and the cumulative survival
the end of the follow-up period on December 31, 1999. People for probability to 1 year of age was 8.6% (95% CI: 4.4
whom no date of death was found were searched for among 18.9; Fig 1). Median survival time was 7 days (95%

778 MORTALITY IN TRISOMY 13 AND TRISOMY 18


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others.40 The overall median age at death for the 5515
people with trisomy 13 was 10 days (5th percentile, 1
day; 25th percentile, 1 day; 75th percentile, 30 days;
95th percentile, 1365 days). Of trisomy 13-associated
deaths, 1677 (30.4%) occurred at 1 month or greater
and 309 (5.61%) occurred at age 1 year or greater. The
median age at death decreased from 10 days in 1979
to 6 days in 1997 ( standard error 0.67 0.23;
P .056). The median age at death was significantly
higher for girls than for boys (10 days vs 5 days; P
.0001; Fig 2), and blacks had a higher median age at
death (17 days) than whites (6 days) or people of
races other than white or black (5 days; P .0001).
The median age at death was not significantly dif-
Fig 1. Kaplan-Meier survival curve (solid line) and 95% CIs ferent between whites and people of other races (ex-
(dashed lines) for children with trisomy 13, metropolitan Atlanta, cluding blacks). Median age at death was higher for
1968 1999 (truncated at 1 year). people with a heart defect noted on the death certif-
icate (10 days) than for those without a heart defect
noted (6 days; P .0001).
CI: 315) and did not vary significantly by any of the
selected clinical or demographic factors (Table 1).
Probabilities of survival to 1 month and 1 year did Trisomy 18
not vary significantly by gender, race, or presence of MACDP
heart defect (Table 2). However, the 1-month sur- For 1968 through 1999, MACDP coded 124 live-
vival probabilities varied significantly by birth pe- born infants as having trisomy 18. After reviewing
riod, from 40% (1968 1979) to 47% (1980 1989) to the cytogenetic data, we excluded 10 of these in-
17% (1990 1999). One-year survival probabilities did fants3 because cytogenetic results were not avail-
not vary significantly between time periods. able, 3 because they had mosaicism, and 4 because
they had other abnormalities involving chromosome
MCMF
18. After these infants were excluded, 114 liveborn
MCMF contain records for 40 591 313 deaths dur- infants with trisomy 18 remained for study, includ-
ing 1979 1997, 5553 of which listed trisomy 13 on the ing 4 infants who also had sex chromosome aneu-
death certificate. Of these, we excluded 6 records that ploidy (3 with 48, XXY, 18 and 1 with 48, XXX,
also listed the code for pregnancy termination, 30 18) and 2 with free trisomy 18 and an additional
that listed codes for both trisomy 13 and 18, and 2 apparently balanced chromosomal rearrangement.
that were missing values for age at death. The final We identified deaths in 106 of the 114 people with
analytical death cohort for trisomy 13 was 5515, in- trisomy 18. MACDP records captured 83 deaths,
dicating that 1 in 7362 deaths was associated with linkage with Georgia vital records identified 22 ad-
trisomy 13. ditional deaths, and NDI linkage identified 1 addi-
The racial distribution among trisomy 13-associ- tional death. Of the 114 people with trisomy 18, 104
ated deaths was 78.7% white, 18.4% black, and 3.5% (91%) died during the first year of life. Two people
others, whereas the racial distribution of all births for with trisomy 18 died at ages 1 year (414 days and
1980 1997 was 79.9% white, 15.9% black, and 4.2% 1081 days). Of the 8 children with trisomy 18 for
whom no date of death was available, 5 were last
TABLE 1. Median Survival Time of People With Trisomy 13 documented by pediatric hospital records as being
by Selected Demographic and Clinical Characteristics, Atlanta, alive at ages 410, 810, 1332, 1848, and 3203 days. For
1968 1999 the other 3 (1 born in 1997 and 2 in 1999), no addi-
Characteristics No. of Births No. of Deaths Median Survival tional information was available.
(n 70) (% Died) Time For liveborn infants with trisomy 18, the estimated
(Day; 95% CI) probability of survival to 1 month of age was 38.6%
Race* (95% CI: 29.7 47.5) and to 1 year of age was 8.4%
White 35 35 (100) 7 (226) (95% CI: 3.213.6; Fig 3). Median survival time was
Black 33 32 (97) 10 (219) 14.5 days (95% CI: 8 28). Analysis of median sur-
Hispanic 1 1 (100) vival time showed significantly longer survival for
Gender
Male 36 36 (100) 10 (519) girls (27 days) compared with boys (3 days). The
Female 33 32 (97) 7 (223) median survival time was longest for Hispanic peo-
Heart defect ple, compared with black or white people. The me-
Present 32 32 (100) 10 (526) dian survival time of infants with trisomy 18 in-
Absent 38 37 (97) 6 (215)
Period of birth
creased from 10 days (1968 1979) to 14 days (1980
19681979 15 15 (100) 10 (242) 1989) and then to 19 days (1990 1999), but this
19801989 21 21 (100) 26 (559) increase was not statistically significant. The pres-
19901999 34 33 (97) 2.5 (211) ence of a congenital heart defect was not associated
* One person of unknown race. with significantly shorter lifespan (Table 3). Analysis
One person of unknown gender. of 1-month survival probabilities for infants with

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TABLE 2. 1-Month and 1-Year Survival Probabilities of People With Trisomy 13 by Selected
Demographic and Clinical Characteristics, Atlanta, 1968 1999
Characteristics 1-Month Survival P Value for 1-Year Survival P Value for
Probability 1-Month Probability 1-Year
(95% CI) Survival (95% CI) Survival
Race*
White 0.31 (0.160.47) .5322 0.085 (0.00 .9780
0.18)
Black 0.27 (0.120.42) 0.09 (0.000.42)
Gender
Male 0.31 (0.160.46) .7513 0.08 (0.000.17) .6842
Female 0.30 (0.170.46) 0.09 (0.000.19)
Heart defect
Present 0.31 (0.150.47) .5541 0.16 (0.040.27) .4785
Absent 0.32 (0.190.46) 0.0 (0.000.00)
Period of birth
19681979 0.40 (0.150.64) 0.06 (0.000.19)
19801989 0.47 (0.260.68) .0310 0.14 (0.000.29) .0849
19901999 0.17 (0.050.30) 0.06 (0.000.14)
* One person of unknown race.
One person of unknown gender.

Fig 2. Median age at death among 5514 liveborn indi-


viduals with trisomy 13 by gender, MCMF data, 1979
1997.

TABLE 3. Median Survival Time of People With Trisomy 18


by Selected Demographic and Clinical Characteristics, Atlanta,
1968 1999
Characteristics No. of Births No. of Deaths Median Survival
(n 114) (% Died) Time
(Day; 95% CI)
Race
White 59 56 (95) 4 (218)
Black 51 48 (94) 24 (1343)
Hispanic 3 1 (33) 275 (62414)
Asian 1 0 (0)
Gender
Male 40 37 (93) 3 (18)
Female 74 69 (93) 27 (1439)
Heart defect
Present 67 61 (91) 14 (628)
Fig 3. Kaplan-Meier survival curve (solid line) and 95% CIs Absent 47 45 (96) 20 (434)
(dashed lines) for children with trisomy 18, metropolitan Atlanta, Period of birth
1968 1999 (truncated at 1 year). 19681979 20 20 (100) 10 (361)
19801989 46 45 (98) 14 (734)
19901999 48 41 (85) 19 (343)
trisomy 18 by selected demographic and clinical
characteristics revealed significant differences asso- Hispanic people were excluded. Girls were signifi-
ciated with race and gender (Table 4). The 1-month cantly more likely to survive 1 month than boys,
survival probability was significantly higher for although no significant gender difference was noted
blacks than for whites (P .0213) when the three for 1-year survival probabilities.

780 MORTALITY IN TRISOMY 13 AND TRISOMY 18


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TABLE 4. 1-Month and 1-Year Survival Probabilities of People With Trisomy 18 by Selected
Demographic and Clinical Characteristics, Atlanta, 1968 1999
Characteristics 1-Month Survival P Value of 1-Year Survival P Value of
Probability 1-Month Probability 1-Year
(95% CI) Survival (95% CI) Survival
Race
White 0.28 (0.170.40) 0.04 (0.000.10)
Black 0.45 (0.310.59) .0211 0.08 (0.010.15) .0113
Hispanic 1.00 (1.01.0) 0.66 (0.131.00)
Asian 1.00 (1.01.0) 1.00 (1.01.0)
Gender
Male 0.28 (0.170.41) .0035 0.09 (0.000.19) .0695
Female 0.45 (0.330.56) 0.08 (0.020.14)
Heart defect
Present 0.37 (0.260.49) .9089 0.12 (0.040.20) .5960
Absent 0.40 (0.260.54) 0.04 (0.000.10)
Period of birth
19681979 0.35 (0.140.55) 0.00 (0.000.00)
19801989 0.37 (0.230.51) .8960 0.04 (0.000.10) .3562
19901999 0.42 (0.280.56) 0.17 (0.060.27)

MCMF blacks had a higher median age at death (17 days)


MCMF for 1979 1997 contained 8797 death certif- than whites (10 days) or people of other races (10
icate records that listed trisomy 18. Of those, we days; P .0001; Fig 4). The median age at death for
excluded 15 that also listed the code for pregnancy people with trisomy 18 with a heart defect noted on
termination, 30 that listed codes for both trisomy 13 the death certificate was higher (17 days) than for
and 18, and 2 that were missing values for age at those without a heart defect noted (10 days; P
death. The final analytical death cohort for trisomy .0001).
18 was 8750, indicating that 1 in 4639 deaths was
associated with trisomy 18. DISCUSSION
The racial distribution among people with trisomy We used 2 different population-based strategies to
18 was 78.9% white, 16.5% black, and 4.6% other study mortality in trisomy 13 and trisomy 18. The 2
races. Among people with trisomy 18, the overall data sets used in this study have important strengths.
median age at death was 10 days (5th percentile, 1 Both are population-based, which decreases the se-
day; 25th percentile, 2 days; 75th percentile, 60 days; lection bias that has been observed in some studies.
95th percentile, 1365 days). Among trisomy 18-asso- Because MACDP has been in operation since 1968,
ciated deaths, 3316 (37.9%) occurred at 1 month or these data made it possible for us to evaluate changes
greater and 487 (5.57%) occurred at age 1 year or in survival among people ascertained with identical
greater. The median age at death decreased from 17 criteria over a period of 32 years. In addition,
days in 1979 to 10 days in 1997 ( standard error MACDPs multiple ascertainment sources, including
0.62 0.17; P .0003). The median age at death data from cytogenetic laboratories,41 allowed us to
was significantly higher among girls than among exclude people whose condition was not cytogenet-
boys (17 days vs 5 days, respectively; P .0001), and ically confirmed. In most cases, exclusions were

Fig 4. Median age at death among 8750 liveborn indi-


viduals with trisomy 18 by gender, MCMF data, 1979
1997.

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made because another cytogenetic abnormality or nancy terminations. Our study using MCMF data
mosaicism was diagnosed, not because of lack of included earlier years, a time when prenatal diagno-
cytogenetic data. Use of NDI to provide information sis and pregnancy termination would have been less
on people whose date of death was not available frequent. The birth prevalence of trisomy 13 or tri-
from hospital records or Georgia death certificates is somy 18 in Hawaii would have been 1 in 6205 and 1
another strength of our study because previous stud- in 2503, respectively, if elective terminations were
ies have shown that information obtained from NDI included. Another reason for the higher frequency of
data is accurate and that this source identifies a high trisomy 13 and trisomy 18 in MCMF data may be that
proportion of deaths.42 44 MCMF data allowed us to results of chromosome analyses were not available
assess much larger numbers of people than previous when the death certificates were completed, so some
studies. infants may have been incorrectly classified as hav-
Both data sets also impose limitations. The biggest ing 1 of these conditions.
limitation with MACDP data is that people with Another limitation of our analyses is that we have
trisomy 13 or 18 for whom no date of death was no information on the types of medical interventions
available in the hospital records, Georgia vital provided to people with trisomy 13 or 18 in either
records, or NDI were assumed to be alive, but this data set, although it is likely that a wide range of
assumption may be incorrect. Linkage to Georgia medical interventions were provided. Because of
vital records depended on name; thus, name changes this, we are unable to address whether people who
complicated this linkage. However, nearly all people have trisomy 13 or 18 and survive longer receive
for whom no date of death was found were born more aggressive care.
during the time period for which NDI data are avail- Despite these limitations, the 2 data sets showed
able, and NDI uses several factors for linkage. In similar results for median survival time (MACDP)
addition, local pediatric hospital records docu- and median age at death (MCMF). The median sur-
mented 6 of the 9 people with an unknown date of vival time for infants with trisomy 13 was 7 days
death as being alive after the age of 1 year. Finally, using MACDP data, and the median age at death
median age of survival is unlikely to be severely was 10 days using MCMF data. The median survival
affected by these few people. Another limitation of time for infants with trisomy 18 was 14.5 days using
MACDP data is that, because it considered only in- MACDP data, and the median age at death was 10
fants whose conditions were cytogenetically con- days using MCMF data. These findings were similar
firmed, it missed infants who had trisomy 13 or 18 to those obtained from other unselected studies of
and died before blood or other samples were ob- mortality, which reported median survival of 2.517
tained for cytogenetic analysis. Thus, our use of these and 428 days for people with trisomy 13 and median
data may skew our findings toward longer survival. survival ranging from 2.5 to 6 days for people with
The major limitation of MCMF data is that they are trisomy 18.17,19,21,24,25
based on death certificates, which previous studies Using data from MACDP, we found that 91% of
have demonstrated to be incomplete and, in some infants with trisomy 13 or with trisomy 18 died
instances, inaccurate.45,46 In this data set, we were within the first year of life. This is also similar to
unable to confirm diagnoses of trisomy 13 or 18 by previous unselected studies. The range in previous
cytogenetic analysis, so other conditions may have studies for trisomy 13 was 89.5% to 100%,17,28,47 and
been incorrectly diagnosed and recorded as trisomy for trisomy 18 was 74.3% to 100%.17,19,24,47 One of
13 or 18. This problem is highlighted by the finding these studies showed lower rates of death in the first
that 30 records listed both trisomy 13 and trisomy 18 year of life47; however, this study may have under-
on the death certificate (these records were excluded estimated infant mortality because deaths that oc-
from our analysis). Another limitation is that we curred out of state may have been underascertained.
could not exclude people with mosaicism, who may Like our study, previous studies have suggested
be expected to have a longer survival. In addition, that girls with trisomy 13 or 18 survive longer than
people who had trisomy 13 or 18 and were not boys.20 25 Using MCMF data, we observed signifi-
diagnosed before their death certificates were com- cantly higher median age at death for girls than for
pleted would not be included in MCMF data. Data boys with either trisomy 13 or trisomy 18. Similarly,
on the presence of a heart defect are limited by our using MACDP data, we found that girls with trisomy
use of death certificates as the source of information. 18 had longer median survival and significantly bet-
We were unable to assess the accuracy of ascer- ter 1-month survival probability than boys. Longer
tainment of trisomy 13 or 18 in the MCMF data. In a survival in girls was not seen in trisomy 13 using
study from Hawaii, the prevalence of trisomy 13 MACDP data.
among liveborns was 1 in 12 083 and for trisomy 18 A recent study of Down syndrome mortality using
was 1 in 655927; MACDP data for 1968 1999 show death certificates showed a substantial racial dispar-
the frequency of cytogenetically confirmed cases to ity, with white people surviving longer than people
be 1 in 14 700 for trisomy 13 and 1 in 9026 for trisomy of other races.26 In contrast, both of the data sets that
18. These figures for frequency of trisomy 13 and we used showed that blacks with trisomy 13 or 18
trisomy 18 are lower than those reported on death survived longer than whites, although the differ-
certificates. One reason for this may be that the Ha- ences did not reach statistical significance using
waii study included pregnancy terminations; during MACDP data. The reasons for this association are
the study period (1986 1997), nearly 40% of trisomy unknown. A possible relationship between black
13 and almost 50% of trisomy 18 cases were preg- race and better survival of people with trisomy 13

782 MORTALITY IN TRISOMY 13 AND TRISOMY 18


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was previously suggested when 2 black children 4. Smith A, Silink M, Ruxton T. Trisomy 18 in an 11 year old girl. J Ment
Defic Res. 1978;22:277286
with trisomy 13 were documented to have survived
5. Surana RB, Bain HW, Conen PE. 18-Trisomy in a 15-year-old girl. Am J
into the second decade of life.30 Dis Child. 1972;123:7577
MACDP data suggest that the presence of a heart 6. Karayalcin G, Shanske A, Honigman R. Wilms tumor in a 13-year old
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ACKNOWLEDGMENTS
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olyn Sullivan, Karen Thornton, and Tineka Yowe. Their constant Jr. Congenital malformations surveillance: two American systems. Int J
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MEDICAL DIVERSIONS

Every country in the developing world is increasing its expenditure on health


care in. . . an unattainable battle against death, pain, and sickness. More and more
of lifes processes and difficulties birth, death, sexuality, aging, unhappiness,
tiredness, loneliness, (and) perceived imperfections in our bodies are being medi-
calized. Medicine cannot solve these problems. It can sometimes help, but often at
a substantial cost. People become patients. Stigma proliferates. Large sums are
spent. The treatments may be poisonous and disfiguring. Worst of all, people are
diverted from what may be much better ways to adjust to their problems.

Smith R. Spend (slightly) less on health and more on arts. BMJ. 2002;325:14321433

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784 MORTALITY IN TRISOMY 13 AND TRISOMY 18


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Population-Based Analyses of Mortality in Trisomy 13 and Trisomy 18
Sonja A. Rasmussen, Lee-Yang C. Wong, Quanhe Yang, Kristin M. May and J. M.
Friedman
Pediatrics 2003;111;777
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PEDIATRICS is the official journal of the American Academy of Pediatrics. A monthly


publication, it has been published continuously since 1948. PEDIATRICS is owned, published,
and trademarked by the American Academy of Pediatrics, 141 Northwest Point Boulevard, Elk
Grove Village, Illinois, 60007. Copyright 2003 by the American Academy of Pediatrics. All
rights reserved. Print ISSN: 0031-4005. Online ISSN: 1098-4275.

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Population-Based Analyses of Mortality in Trisomy 13 and Trisomy 18
Sonja A. Rasmussen, Lee-Yang C. Wong, Quanhe Yang, Kristin M. May and J. M.
Friedman
Pediatrics 2003;111;777

The online version of this article, along with updated information and services, is
located on the World Wide Web at:
/content/111/4/777.full.html

PEDIATRICS is the official journal of the American Academy of Pediatrics. A monthly


publication, it has been published continuously since 1948. PEDIATRICS is owned,
published, and trademarked by the American Academy of Pediatrics, 141 Northwest Point
Boulevard, Elk Grove Village, Illinois, 60007. Copyright 2003 by the American Academy
of Pediatrics. All rights reserved. Print ISSN: 0031-4005. Online ISSN: 1098-4275.

Downloaded from by guest on June 26, 2017