Twins-twice More Trouble?

Santolaya, Joaquín; Faro, Revital

doi:10.1097/grf.0b013e3182446f51

Cited by 19 publications

(18 citation statements)

References 39 publications

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“…We excluded babies for whom birthweight was not recorded (182, 2.3%), gender was not recorded (20, 0.26%), and babies with improbable gestational age and birthweight combinations (72, 0.93%). We excluded the twins as they carry higher risk of prematurity and mortality compared to the singletons . After exclusion of twins (251, 3.2%), 7225 singleton remained for primary analysis.…”

Section: Resultsmentioning

confidence: 99%

“…We excluded the twins as they carry higher risk of prematurity and mortality compared to the singletons. 19 After exclusion of twins (251, 3.2%), 7225 singleton remained for primary analysis. There were 184 deaths during the neonatal period (neonatal mortality rate = 25.5/1000 live births) and 291 deaths during first year (infant mortality rate = 40.3/1000 live births).…”

Section: Resultsmentioning

confidence: 99%

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The Contribution of Preterm Birth and Intrauterine Growth Restriction to Infant Mortality in Tanzania

Sania

Spiegelman

Rich‐Edwards

et al. 2013

Paediatric Perinatal Epid

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Background: Our objectives were to examine the associations of neonatal and infant mortality with preterm birth and intrauterine growth restriction (IUGR), and to estimate the partial population attributable risk per cent (pPAR%) of neonatal and infant mortality due to preterm birth and IUGR. Methods: Participants were HIV-negative pregnant women and their infants enrolled in Dar es Salaam, Tanzania. Gestational age calculated from date of last menstrual period was used to define preterm, and small for gestational age (SGA) was used as proxy for IUGR. Survival of infants was ascertained at monthly follow-up visits. Cox proportional hazard models were used to estimate the associations of preterm and SGA with neonatal and infant mortality. Results: Study included 7225 singletons, of whom 15% were preterm and 21% were SGA; majority of preterm or SGA babies had birthweight ≥2500 g. Compared to term and appropriately sized babies (AGA), relative risks (RR) of neonatal mortality among preterm-AGA was 2.6 [95% CI 1.8, 3.9], RR among term-SGA was 2.3 [95% CI 1.6, 3.3], and the highest risk was among the preterm-SGA babies (RR 15.1 [95% CI 8.2, 27.7]). Risk associated with preterm was elevated throughout the infancy, and risk associated with SGA was elevated during the neonatal period only. The pPAR% of neonatal mortality for preterm was 22% [95% CI 17%, 26%] and for SGA it was 26% [95% CI 16%, 36%]. Conclusions: Preterm and SGA birth substantially increased the risk of mortality. Interventions for prevention and management of these conditions are likely to reduce of infant mortality in Tanzania.

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

The Contribution of Preterm Birth and Intrauterine Growth Restriction to Infant Mortality in Tanzania

Sania

Spiegelman

Rich‐Edwards

et al. 2013

Paediatric Perinatal Epid

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“…The propositus was the product of a dizygotic twin pregnancy with a pre‐term 29‐week gestation presumably due to the fact that at least 60% of all twins are born before the 37th week of pregnancy and account for 15% of all preterm births in the United States. [Santolaya and Faro, ]. Bronchopulmonary dysplasia resolved by age 5 months.…”

Section: Resultsmentioning

confidence: 99%

“…Extensive follow‐up on the family showed that the twin sister was diagnosed with cerebral palsy, a common complication in a twin pregnancy, and is the likely cause of her developmental delay [Santolaya and Faro, ]. Further investigation uncovered four relatives with intellectual disability, three males and one female.…”

Section: Discussionmentioning

confidence: 99%

Maternal FMR1 premutation allele expansion and contraction in fraternal twins

Alfaro¹

2013

American J of Med Genetics Pt A

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Fragile X syndrome results from an expansion of the CGG trinucleotide repeat in the 5' untranslated region of the Fragile X Mental Retardation 1 (FMR1) gene. Expansion of a maternal premutation allele is the mechanism by which a full mutation allele arises; contraction of a maternal premutation allele is rare. Here we report on both an expansion and contraction of a maternal FMR1 premutation allele in fraternal twins. The propositus was the product of a 29-week gestation twin pregnancy and was referred for FMR1 testing due to developmental delay. A FMR1 full mutation with complete methylation was observed on Southern blot analysis. Evaluation of the maternal FMR1 gene by PCR revealed a normal and premutation allele with CGG repeat numbers of 30 and 93, respectively. Subsequent FMR1 testing on the twin sister of the propositus detected CGG repeat numbers of 30 and 54. The FMR1 CGG repeat number of the reproductive partner was 30. The FMR1 CGG repeat 30 allele in the twin sister was determined to be of paternal origin and the FMR1 allele with a CGG repeat number of 54 was of maternal origin. This observation is particularly interesting not only because of the concomitant donation of a FMR1 expanded and contracted premutation allele in a twin pregnancy but also because of the significant degree of contraction (39 repeats) of the maternal premutation allele.

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“…Early sonographic evaluations in twin pregnancies allows for accurate estimation of the expected due day, chorionicity and placenta location/s [2]. Ultrasound imaging also allows for assessment of the relationships between the amniotic sac/s and the cervix and to rule out major fetal structural abnormalities [3][4][5]. Compared to singleton gestations, twins also have an increased risk for chromosomal abnormalities [6,7].…”

Section: Introductionmentioning

confidence: 99%

Screening for Down syndrome in dichorionic twin pregnancies conceived by in vitro fertilization (IVF): a clinical pilot study to confirm the laboratory methods

Francois

Kugler

Santolaya

et al. 2013

J Assist Reprod Genet

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Purpose The corrections necessary to estimate the risk for Down syndrome in twin pregnancies have been pointed out. We performed a nested controlled study to evaluate the validity of these corrections in dichorionic twins conceived by IVF. Methods Detailed clinical data was collected from the medical records. Twins were matched with a contemporaneous cohort of spontaneously conceived singleton pregnancies that serve as reference in a 1 to 4 ratio. All patients had their entire obstetrical care at our Hospital. The Student t-test was used for group comparisons and a p-value <0.05 was considered significant. Results Nineteen sets of normal twins concordant in size and with appropriate weight for gestational age were matched with 80 normal and mature newborns. Significant differences between groups were found for maternal age, gestational age at delivery and newborn weight (all p <0.01). No statistical differences were noted for the levels of the biochemical markers expressed as multiples of the median. However, a 15 % closer approximation to the laboratory median for PAPP-A and a 10 % closer approximation to the laboratory median for free β-hCG was evident in twins when compared to the reference group. Conclusions These findings support the methods used to estimate the risk for Down syndrome in dichorionic twin pregnancies conceived after IVF. A future study with a larger sample size could confirm if the laboratory corrections done on the combined screening test improve the predictability of Down syndrome in dichorionic twin pregnancy conceived by IVF when compared to singleton pregnancies.

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Twins-twice More Trouble?

Cited by 19 publications

References 39 publications

The Contribution of Preterm Birth and Intrauterine Growth Restriction to Infant Mortality in Tanzania

The Contribution of Preterm Birth and Intrauterine Growth Restriction to Infant Mortality in Tanzania

Maternal FMR1 premutation allele expansion and contraction in fraternal twins

Screening for Down syndrome in dichorionic twin pregnancies conceived by in vitro fertilization (IVF): a clinical pilot study to confirm the laboratory methods

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