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Congenital defects of the limbs in stillbirths Data from a population-based study.

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American Journal of M e d i c a l Genetics 46479-482 (1993)
Congenital Defects of the Limbs in Stillbirths:
Data From a Population-Based Study
Ursula G. R o s t e r and Patricia A. Baird
Klinik fur Frauenheilkunde und Geburtshilfe, Medizinische Universitiit zu Lubeck, Lubeck, Gerrnany (U.GE.);
Department of Medical Genetics, University of British Columbia, Vancouver,British Columbia, Canada (PAB.)
We analyzed limb deficiencies occurring in
stillbirths with congenital anomalies registered in the Health Surveillance Registry of
British Columbia between the years 1964 and
1984.Thirty stillborn infants presenting with
various defects of the limbs were found during this time, giving an incidence of 39.52 in
10,000stillbirths(1 :253).This incidence is s i g
nificantly higher t h a n the incidence among
liveborn individuals in the Province (5.97 in
10,OOO livebirths or 1:1,842). Most cases involved the upper limbs, and most frequently
the radius. Additional anomalies were present in 77% of cases, compared to 48% in liveborns. The study of stillbirths with congenital
anomalies provides important information regarding the spectrum of birth defects seen in
this group. This may be of relevance because
of improved survival possibilities due to advances in perinatal care. o 1993 Wiley-Lisa, Inc.
KEY WORDS: limb defects, stillbirths, epidemiology
MATERIALS AND METHODS
The data of this study were derived as part of an
ongoing study on limb deficiencies occurring in British
Columbia between the years 1952 to 1984.The study
was made possible through the existence of a Health
Surveillance Registery (Registry) which was established in 1952 and collects information on individuals
with congenital, genetic, and chronic disabilities in the
Province of B.C. Details on the organization of the Registry have been published previously [Baird, 19871. All
stillbirths noted to have congenital anomalies have
been registered since 1964. Sources are birth certificates or hospital admissiodseparation forms for all hospitals in the Province. Autopsy or pathology data are
also available for most (80%) cases in this study. The
definition of stillbirths remained constant over the total
period and stated: “stillbirth means the complete expulsion or extraction from its mother, after a t least 20 weeks
pregnancy, of a product of conception in which, after the
expulsion or extraction, there is no breathing, beating of
the heart, pulsation of the umbilical cord or unmistakable movement of voluntary muscle.”
Previously, defects of the upper and lower limbs in
livebirths were analyzed in detail. Maternal factors associated with limb defects in livebirths were also described with a special focus on identifying any patterns
of anomalies associated with particular factors [Roster
and Baird, 1992a,b,c, 19931.During the study period of
32 years (1952 to 1984) the incidence of limb defects
among liveborn infants was 5.97 per 10,000 [F’rosterIskenius and Baird, 19891.
The present study examines the frequency and patterns of limb defects of stillbirths and compares this to
our previously described data on livebirths.
INTRODUCTION
Detailed population-based studies on congenital anomalies in stillbirths are still rare. This is mostly due to a
lack of systematic and consistent registration of stillborn infants with congenital anomalies. The British
Columbia (B.C.) Health Surveillance Registry (Registry) has systematically collected data on stillbirths with
congenital anomalies since 1964.All those stillborn infants noted to have congenital abnormalities on the
birth certificate or on hospital admissiodseparation
RESULTS
forms are ascertained. It provides a useful source for
analysis of different birth defects and comparison with
A total of 30 cases with limb defects was found among
livebirths. These are also useful data in monitoringtrends 7,590stillborns registered over the period 1964to 1984.
over time in the occurrence of congenital anomalies.
There were 15 males and 13 female stillbirths, and two
of unidentifiable sex. Twenty-two of the 30 cases (73%)
Received for publication February 27, 1992; revision received had anomalies of other organs as well. In six cases (2M,
2F, 2 with ambiguous genitalia) there was total absence
February 1, 1993.
Address reprint requests to Dr. U.G. Froster, Klinik fur of one or more limbs. These cases were described in
Frauenheilkunde und Geburtshilfe, Medizinische Universitat zu detail in a previous study on amelia [F’roster-Iskenius
Lubeck, Ratzeburger Allee 160, 2400 Lubeck, Germany.
and Baird, 19901.The incidence of amelia in stillbirths
0 1993 Wiley-Liss, Inc.
480
Roster and Baird
TABLE I. Upper Limb Defects in Stillbirths
Case
1
2
YOB
1964
1971
1973
1973
Sex
m
f
f
m
Limb defect
It, radii, ulnae, r, le
Tt, radius, ulna, r
Tt. humeri, femora
T1; radii, r;le
11, fibula, r, le
Other anomalies
-
encephalocele, absence of eyes, nose
anencephalus
46,XY
cleft palate, VSD, pulmonary stenosis 0s sacrum hypoplastic, renal
microcysts, congenital cirrhosis
11, radius, r
polycystic kidney, single umbilical artery
5
1975 m
It, radius, ulna, r
hypoplastic ear, le
6
1978 m
single umbilical artery
f
T1, radius, ulna, r
7
1978
T1, thumb, le
small placenta
f
T1, radius, r
imperforate anus, omphalocele, mother: diabetes
8
1979
46,XY
9
1980 m
T1, radius, r
hydrocephalus, CHD, esophageal cyst, single umbilical artery, splenomegaly
syndactyly II/III (toes), low set ears, 32 weeks-1,150 g (<loth percentile)
10
1983 m
11, radius, le
Abbreviations: T, Terminal; I, intercalary; t, transverse; 1, longitudinal; r, right;le, left; YOB, year of birth; VSD, ventricularsepta1defect; CHD,
3
4
congenital heart disease
DISCUSSION
was 7.9/10,000stillbirths, compared t o 0.15/10,000livebirths. This is significantly higher (X' = 229.58; P <
The total number of stillbirths between the years
0.001).The malformation seen most often in addition in
the group of amelia was abdominal wall defects [F'roster- 1964, when registration of stillbirths started, and the
Iskenius and Baird, 19901. There was one case each of end of 1983 inclusive, was 7,590 cases. A tabulation of
sirenomelia, and one case with amniotic band sequence. numbers of stillbirths over the years was given in the
Leaving aside the above already described 8 cases (6 study of cases with amelia [Roster-Iskenius and Baird,
cases with amelia, one case with sirenomelia, and one 19901. There were 13.5 stillbirths per 1,000 liveborn
case with amniotic band sequence),the remaining cases infants in 1964, while this rate dropped to 7/1,000 in
were subdivided and analyzed, according to the classi- 1984 [Roster-Iskenius and Baird, 19901. In this period
fication system used previously with the data on live- of time (1964 to 1984))there were 30 cases with limb
born infants [Roster and Baird, 1992al. The findings defects, which gives an incidence of 39.53/10,000 stillamong these remaining 22 cases in stillbirths (9F, 13M) births, or 1: 253. This incidence is significantlyhigher
than among liveborns, where an incidence of 5.97/10,000
are summarized in Tables 1-111.
In 16 cases, defects of the upper limbs were found, cases was calculated. In both these calculations, all cases
while defects of the lower limbs only were present in the are included, while in the more detailed analysis cases
remaining 6 cases. In most cases (80%), an autopsy with a known cause, such as amniotic bands, were
report or detailed hospital reports were available to de- excluded.
scribe the clinical findings so that the documentation of
Radius defects account for the largest subgroup
defects can be regarded as reliable. Chromosomestudies among stillborn infants with limb defects (Table I);nine
were done successfully in only four cases and gave nor- of the 22 cases (40.9%)had radius defects; six of them
were longitudinal and three transverse. All of them had
mal results in all of them.
TABLE 11. Defects of the Hand and Phalanges*
Case
1
2
YOB
1974
1977
Sex
m
m
3
1978
m
4"
1979
f
Tt, handr, le
Tt, tarsals, r
Tt,phal 111-V, r, le
5
6
1981
1982
f
f
11, thumb, le
T1, phal I and V, r, le
Limb defect
T1, thumb, r
T1, phal. 111, le
* Abbreviations as in Table I.
Other anomalies
encephalocele, VSD, aplasia lung, r
syndactyly 1/11, le, (fingers)
VSD, horseshoe-kidney, hydroureter
-
maternal alcohol abuse
17 weeks-400 g
41 weeks-2,250 g ( 4 0 t h percentile)
syndactyly IIVIV, r, le (fingers)
microcephaly, CHD, esophageal aplasia, thyroid, adrenal aplasia, single
umbilical artery, absent sternum, 12th rib, truncal edema
22 weeks-410 g
chromosomal analysis failed; twin pregnancy twin sister: CHD
* This case was previously detailed in the study on maternal alcohol abuse [Roster and Baird, 1992bl.
Limb Defects in Stillbirths
Case
YOB
Sex
1
1966
1969
m
2
3
1973
4
1973
5
6
m
f
m
1974
f
76
m
481
TABLE 111. Defects of the Lower Limbs in Stillbirth*
Limb defect
Other anomalies
Tt, foot, r, le
It, femur, r
polydactyly right foot, imperforate anus, single umbilical artery
Tt, fibula, tibia, r
syndactyly (not specified)
syndactyly IIVIV, le (fingers and toes)
Tt,foot, r
T1, toe IV, le
Tt, foot, r, le
13 ribs, 24 weeks
mother: myxedema
horseshoe kidney, syndactyly IIIIV, r, le (fingers)
micrognathia, cleft palate, bifid nose, low set ears, hypertelorism, syndactyly
hands, r, le
* Abbreviations as in Table I.
other additional organ anomalies. No side or sex preference could be identified. Comparing this to the results in
liveborn cases, where 112 cases with radius defects were
found among a total of 547 cases with limb defects, after
excluding the specific categories (20.4%),radius defects
are significantly more frequent among stillbirths than
among liveborns (X2= 5.27; P < 0.025).
Defects of the upper limbs affecting the hand and
fingers made up 52% of the liveborn cases (285/547),
while it was present in just 27% (6/22) of the stillbirths
(X2= 5.22; P < 0.025) [Roster andBaird, 1992al. Lower
limb defects were found in 27% of the stillborns (61221,
which is comparable to the findings in livebirths
(1301547; 23%) [Froster and Baird, 19931.
In case 9 (Table I), a pattern combination comparable
to the X-linked type of VACTERL-hydrocephalus syndrome was found [Evans et al., 1989; Froster-Iskenius
and Meinecke, 19921and is a likely diagnosis. This syndrome appears to be fairly common. In other subgroups
of the complete study, we identified other cases with a
spectrum comparable with this diagnosis. There were
three cases with a similar pattern of anomalies in the
study on liveborn infants [Roster and Baird, 1992al.
One further case with a compatible pattern of anomalies, who had a brother with an imperforate anus, which
might be a minimal expression of the syndrome [F’rosterIskenius and Baird, 19901, was detailed in the group of
stillborn infants with amelia. Furthermore, the pattern
of anomalies in case 7 could represent a case of triploidy,
and case 5 (TableI) might be a case oftrisomy 18.Among
the possible identifiable conditions which are common
in stillborn infants, we found one case each of severe
alcohol exposure (case 4, Table 111,and one case of maternal diabetes (case 8, Table I).
In five cases (22%), a single umbilical artery was
found, an otherwise fairly rare anomaly, occurring in
about 1 in 200 newborns [Benirschke and Driscoll,
19671. Single umbilical arteries were found in cases
with cardiovascular anomalies [Page et al., 19811. Absence of one umbilical artery can be the result of either
agenesis or early degeneration of this vessel. It also is a
frequent finding among monozygotic twins and in chromosomally abnormal fetuses. Among stillbirths with
limb defects, it might indicate early vascular disruption
as a possible pathogenesis.
Miller and Poland [19701pointed out the importance
of monitoring abortuses for congenital anomalies. In a
study inB.C. covering the years 1965to 1968,they found
an increase among abortuses of limb defects (gestational
age ranging from 77 to 103 days) for the years 1968169.
This increase could not be confirmed by the data on
stillbirths covered in this study.
In summary, radial defects were more frequent in
stillborn than in liveborn individuals with limb defects.
This difference is statistically significant (X2= 7.64; P
< 0.01) if the categories of multiply malformed infants
in the liveborn and stillborn individuals are compared
(9/22 stillbirth and 60/348 liveborns). Interestingly, defects affecting the hands and fingers were less common
in stillborns. It is likely that this lower frequency was
due to underascertainment, as most cases did not have
X-rays and detailed description of digits.
Most stillborn individuals had additional defects and
in particular, a single umbilical artery was much more
common than in liveborn individuals, raising the possibility of early vascular disruption as a mechanism.
ACKNOWLEDGMENTS
Dr. Ursula F’roster was partly supported by a grant
from the Deutsche Forschungsgemeinschaft (Fr
653/1-2). Dr. Patricia Baird is supported by the Medical
Research Council of Canada (MA-9279).The authors are
grateful to Mrs. Betty MacDonald, Manager, Health
Surveillance Registry, and Miss J. Dyrland, Assistant
Director, Division of Vital Statistics, Ministry of Health,
for their assistance with this study. Strict conditions of
confidentiality are maintained with respect to the B.C.
Health Surveillance Registry data.
REFERENCES
Baird PA (1987):Measuring birth defects and handicapping disorders
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Evans JA, Stranc LC, Kaplan P, Hunter AGW (1989): VACTERL with
hydrocephalus: Further delineation of the syndrome(s).Am J Med
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Roster UG, Baird PA (1992a): Congenital defects of the upper limbs
and associated malformations: A population based study. Am J Med
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Roster UG, Baird PA (1992b): Congenital defects of the limbs and
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Maternal factors, medications and drug
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Roster-Iskenius UG, Baird PA (1989):Limb reduction defects in over
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fioster-Iskenius UG, Meinecke P (1992):Encephalocele, radial defects,
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