Causal Hypothesis for Some Congenital Anomalies

Pharoah, P. O. D.

doi:10.1375/twin.8.6.543

Cited by 31 publications

(26 citation statements)

References 39 publications

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“…It has been proposed that the form of cerebral impairment may vary depending on the timing of feto–fetal transfusion episodes. The damage to the brain may lead to neuronal migration abnormalities, porencephaly, multicystic encephalopathy, subcortical leucomalacia and other cerebral pathologies 12. Some of these pathologies may manifest clinically as CP, other clinical manifestations may not present with motor disability and will not be diagnosed as CP.…”

Section: Discussionmentioning

confidence: 99%

Prevalence and pathogenesis of congenital anomalies in cerebral palsy

Pharoah

2007

Archives of Disease in Childhood - Fetal and Neonatal Edition

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Section: Discussionmentioning

confidence: 99%

Prevalence and pathogenesis of congenital anomalies in cerebral palsy

Pharoah

2007

Archives of Disease in Childhood - Fetal and Neonatal Edition

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“…However, the significant difference between same-and opposite-sex twins when neonatal and postneonatal mortality are separately examined, suggests that the role of zygosity in some subsets of twin SIDS should be reassessed. Monozygous twins are always same-sex and are at significantly increased risk of infant mortality and severe morbidity, particularly neurological impairment, in those who survive (Pharoah, 2005). The neurological abnormalities include holoprosencephaly, schizencephaly, hydranencephaly, porencephaly and multicystic encephalomalacia (Scheller & Nelson, 1992).…”

Section: Sudden Infant Death Syndrome In Twins and Singletonsmentioning

confidence: 99%

Sudden Infant Death Syndrome in Twins and Singletons

Pharoah¹,

Platt

2007

Twin Res Hum Genet

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T wins compared with singletons and monozygous (MZ) compared with dizygous (DZ) twins are at increased risk of fetal and infant death, cerebral palsy and many congenital anomalies. The aim of this study is to investigate whether zygosity is a risk factor for the sudden infant death syndrome (SIDS). Birth registration data and draft infant death certificates for all multiple births in England and Wales 1993 to 2003 were provided by the Office for National Statistics. As a partial proxy for zygosity, same-sex was compared with opposite-sex twins for birthweight-specific mortality and mortality attributed to SIDS. Data on singleton infants were obtained by subtraction of multiple births from routinely published population births and infant deaths. SIDS mortality among low birthweight infants was significantly less in twins than singletons. The twin-singleton relative risk was reversed in infants of normal birthweight. Among infants of normal birthweight, neonatal SIDS was significantly more common in same-compared with opposite-sex pairs. Among infants of low birthweight, postneonatal SIDS was significantly more common in same-compared with opposite-sex pairs. The difference in birthweight distribution of same-compared with opposite-sex twins for neonatal SIDS suggests that zygosity is a risk factor for SIDS. As congenital cerebral anomalies are a feature of many monozygous twin conceptions, a detailed macro-and microscopical examination of the brain in twin SIDS may indicate an otherwise unrecognised pathology.The association of increased risk of Sudden Infant Death Syndrome (SIDS) with environmental factors such as sleeping position and over-heating from swaddling is well known. Public education about these risks has contributed to a decreasing trend in the incidence of SIDS. Pre-term or low birthweight has an independent effect from sleeping position on the risk of SIDS (Blair et al., 2006;Thompson et al., 2006). The crude relative risk is also greater in twins compared with singletons and adjustment should be made for the confounding effect of low birthweight (Malloy & Freeman, 1999).We previously reported on the epidemiology of SIDS in twins and singletons in England and Wales 1993 to 1998, confirmed that twins compared with singletons were at significantly increased risk and observed that in both twins and singletons the risk of SIDS increased with decreasing birthweight. The higher crude relative risk in twins was attributable to the higher proportion of twins that were of low birthweight. The hypothesis that some SIDS deaths in twins may have been attributable to unrecognized prenatally acquired cerebral impairment associated with monozygotic monochorionic twinning was tested using, as a partial proxy for zygosity, a comparison of same-and opposite-sex twin SIDS mortality. No significant difference was found and it was concluded that zygosity was not an important factor (Platt & Pharoah, 2003).The study now reported complements the earlier one by extending the analysis to cover the years 1993 to 2003. The a...

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“…Omission of these fetal deaths will have only a marginal effect on stillbirth and perinatal mortal rates. It has been hypothesized that the early demise of an embryo or fetus that is unrecognized or unregistered is the cause of many congenital anomalies, including cerebral palsy, in singleton births (Pharoah, 2005). Numerous reports highlight the serious adverse prognosis for a twin whose co-twin died in utero.…”

Section: Discussionmentioning

confidence: 99%

Fetal Death Registration in Multiple Births: Anomalies and Clinical Significance

Pharoah¹

2006

Twin Res Hum Genet

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Trends in the civil registration of fetal death in multiple gestations that has occurred before, but expelled from the womb after, 24 weeks' gestation are examined using England and Wales 1993-2004 registration obtained from the Office for National Statistics. Count was made of fetal death registrations in which fetus papyraceous, fetal death before 24 weeks' gestation or fetocide before 24 weeks' gestation was recorded. There were 3700 fetal death registrations among 217,595 twin, triplet and higher order multiple births in England and Wales between 1993 and 2004. In 354 (9.6%) of these fetal deaths, death was recorded as having occurred before 24 weeks' gestation. There has been a three-fold increase in such fetal death registrations. It is a legal requirement of parents to register a fetal death. The definition of a fetal death that meets formal registration criteria is that the fetus is expelled from the womb after 24 weeks' gestation. However, if the fetal death occurs before 24 weeks, there is confusion, nationally and internationally, whether or not registration is legally required. Fetal death in a multiple gestation has serious clinical implications for a surviving co-conceptus and failure to inform parents of an early death in a multiple gestation may have important repercussions. Legal definition for the registration of fetal death requires international agreement and application.

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Causal Hypothesis for Some Congenital Anomalies

Cited by 31 publications

References 39 publications

Prevalence and pathogenesis of congenital anomalies in cerebral palsy

Prevalence and pathogenesis of congenital anomalies in cerebral palsy

Sudden Infant Death Syndrome in Twins and Singletons

Fetal Death Registration in Multiple Births: Anomalies and Clinical Significance

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