PubMed Health⌕ Search

Biomedical subjects

Rolv Terje Lie

Publications and source records attributed to Rolv Terje Lie.

9 recordsLinked to original sources
PubMed2007

Prevalence of duplications and deletions of the 22q11 DiGeorge syndrome region in a population-based sample of infants with cleft palate.

The prevalence of duplications and deletions of the 22q11.2 (DiGeorge syndrome) region was studied among babies born in Norway with open cleft palate without cleft lip (cleft palate only, CPO). During a 5-year period (1996-2001), there were 245 live births with CPO that were referred for surgery. DNA was available from 174 cases with overt cleft palate. DNA copy number was analyzed with the multiplex ligation-dependent probe amplification (MLPA) technique, and an unambiguous result was obtained in 169 (97%) of the samples. We found no 22q11.2 duplications, and one known, and two previously undiagnosed cases with 22q11.2 deletions. All three del22q11-syndrome cases also had heart malformations, which represent one-third of the 10 babies with heart malformations in our study population. The prevalence of del22q11-syndrome among babies with cleft palate with or without additional malformations was 1 of 57 (1.8%). Because the prevalence of CPO in the 35 22q11.2 duplication cases published was 20%, we also investigated if dup22q11-testing was warranted in this group. However, no 22q11.2 duplications were found, indicating that the duplication cases ascertained so far might not be representative of the dup22q11-group as a whole. We conclude that neither del22q11 nor dup22q11 testing is warranted in babies with overt cleft palate as the only finding.

Chromosome Deletion↗
PubMed2005

[Sense and sensibility in delivery care].

The organisation of delivery care engages both professional and laypersons. When the Norwegian princess Märtha Louise in 2005 chose to give birth at home instead of in hospital, the intensity of the debate in media increased. Some professionals claim with great persuasion that among selected low-risk women, birth at home or in small midwifery units is as safe as in larger delivery units in hospitals. The scientific evidence for this statement is, however, weak. The Norwegian National Advisory Committee for Maternal Care is an important contributor to this debate. The Committee should, however, pay more respect to the scientific disagreement within the field.

Delivery, Obstetric↗
PubMed2005

Recurrence of pre-eclampsia across generations: exploring fetal and maternal genetic components in a population based cohort.

OBJECTIVES: To assess the impact on risk of pre-eclampsia of genes that work through the mother, and genes of paternal origin that work through the fetus. DESIGN: Population based cohort study. SETTING: Registry data from Norway. PARTICIPANTS: Linked generational data from the medical birth registry of Norway (1967-2003): 438,597 mother-offspring units and 286,945 father-offspring units. MAIN OUTCOME MEASURES: Pre-eclampsia in the second generation. RESULTS: The daughters of women who had pre-eclampsia during pregnancy had more than twice the risk of pre-eclampsia themselves (odds ratio 2.2, 95% confidence interval 2.0 to 2.4) compared with other women. Men born after a pregnancy complicated by pre-eclampsia had a moderately increased risk of fathering a pre-eclamptic pregnancy (1.5, 1.3 to 1.7). Sisters of affected men or women, who were themselves born after pregnancies not complicated by pre-eclampsia, also had an increased risk (2.0, 1.7 to 2.3). Women and men born after pre-eclamptic pregnancies were more likely to trigger severe pre-eclampsia in their own (or their partner's) pregnancy (3.0, 2.4 to 3.7, for mothers and 1.9, 1.4 to 2.5, for fathers). CONCLUSIONS: Maternal genes and fetal genes from either the mother or father may trigger pre-eclampsia. The maternal association is stronger than the fetal association. The familial association predicts more severe pre-eclampsia.

Birth Order↗
PubMed2005

Cleft lip and palate versus cleft lip only: are they distinct defects?

Cleft lip defects are usually regarded as a single entity, with the assumption that an accompanying cleft palate represents the more severe form. The authors linked data from the Medical Birth Registry of Norway with medical records from two centralized centers to provide a population-based data set. They assessed the distribution of cleft lip only and cleft lip with cleft palate by covariate. Among 1.8 million Norwegian livebirths between 1967 and 1998, there were 1,572 cases of cleft lip with cleft palate and 1,122 cases with cleft lip only. Seventeen percent of those with cleft lip and palate had another defect compared with 9% of those with cleft lip only. For boys, the risk was greater for cleft lip and palate than for cleft lip only (odds ratio=2.4 vs. 1.8, p<0.001 for difference). The risk of cleft lip only, but not of cleft lip and palate, was increased for twins (odds ratio=1.6 vs. 1.1, p=0.11) and infants whose parents were first cousins (odds ratio=2.7 vs. 0.7, p=0.07). Although cleft lip with cleft palate may simply represent a more severe form of the defect, epidemiologic assessments of cleft lip should, when possible, include separate analyses of these two groups.

Abnormalities, Multiple↗
PubMed2004

Familial risk of urinary incontinence in women: population based cross sectional study.

OBJECTIVE: To determine whether there is an increased risk of urinary incontinence in daughters and sisters of incontinent women. DESIGN: Population based cross sectional study. SETTING: EPINCONT (the epidemiology of incontinence in the county of Nord-Trøndelag study), a substudy of HUNT 2 (the Norwegian Nord-Trøndelag health survey 2), 1995-7. PARTICIPANTS: 6021 mothers, 7629 daughters, 332 granddaughters, and 2104 older sisters of 2426 sisters. MAIN OUTCOME MEASURES: Adjusted relative risks for urinary incontinence. RESULTS: The daughters of mothers with urinary incontinence had an increased risk for urinary incontinence (1.3, 95% confidence interval 1.2 to 1.4; absolute risk 23.3%), stress incontinence (1.5, 1.3 to 1.8; 14.6%), mixed incontinence (1.6, 1.2 to 2.0; 8.3%), and urge incontinence (1.8, 0.8 to 3.9; 2.6%). If mothers had severe symptoms then their daughters were likely to have such symptoms (1.9, 1.3 to 3.0; 4.0%). The younger sisters of female siblings with urinary incontinence, stress incontinence, or mixed incontinence had increased relative risks of, respectively, 1.6 (1.3 to 1.9; absolute risk 29.6%), 1.8 (1.3 to 2.3; 18.3%), and 1.7 (1.1 to 2.8; 10.8%). CONCLUSION: Women are more likely to develop urinary incontinence if their mother or older sisters are incontinent.

Adult↗
PubMed2004

Maternal and fetal variants of genetic thrombophilias and the risk of preeclampsia.

BACKGROUND: A woman's thrombophilic genes may increase her risk of preeclampsia in pregnancy. Vascular conditions of the placenta related to thrombophilic genes of the fetus could also be relevant for preeclampsia. The case-parent triad study design provides separate estimation of maternal and fetal genes. METHODS: We recruited 92 mother-father-child triads of preeclamptic pregnancies from a birth clinic in Stavanger, Norway. All parents were of Norwegian origin. Maternal, paternal, and fetal DNA were genotyped for the methylenetetrahydrofolate reductase (MTHFR) C677T and Factor V Leiden (FVL) G1691A SNPs. Estimation of the relative risk (RR) associated with fetal and maternal genetic variants was performed by log-linear models. RESULTS: There was no indication of an effect of the child's FVL alleles on preeclampsia risk. For case babies with 2 copies of the variant allele, the association with the MTHFR variant was inconclusive (RR = 1.6; 95% confidence interval [CI] = 0.6-4.3). Case mothers who were homozygous for the MTHFR variant had a relative risk of 2.0 (CI = 1.0-4.1) assuming a recessive gene effect. A 2.5-fold risk (CI = 1.1-5.7) of preeclampsia was estimated when the mother carried one copy of the FVL. Among mothers homozygous for the MTHFR variant, the relative risk of the FVL variant was 4.6-fold (CI = 1.0-21). CONCLUSIONS: We found little evidence of an effect of the child's MTHFR or FVL alleles on the risk of preeclampsia. Our estimates of effects of maternal MTHFR and FVL alleles were consistent with estimates from case-control studies. The case-parent triad design may be a useful tool for studies of pregnancy complications such as preeclampsia.

Adult↗
PubMed2004

Ultrasound estimates of gestational age among perinatally demised: a population-based study.

BACKGROUND: Correct estimation of gestational age may improve the quality of obstetric care. We hypothesize that significant differences between traditional and alternative estimates by ultrasound are evident among perinatal deaths. METHODS: Population-based case series with data linkage between autopsy records and The Medical Birth Registry of Norway, including perinatally demised singletons who were examined by autopsy and post-mortem radiography, having antenatal estimates of gestational age both by the calendar method, as calculated from the first day of the last menstrual period preceding the pregnancy (GAlmp), and by mid-second-trimester ultrasound (GAus), N = 380. The main outcome measure was the distribution of GAlmp and GAus within weight strata. RESULTS: Mean GAus was 1 week less than mean GAlmp (t-test, p < 0.001). The degree of apparent growth restriction manifest after death, as expressed by both birthweight and by post-mortem radiographic measurements, was fairly well correlated with the degree of downward adjustment of age by ultrasound in the early second trimester (Pearson's correlation, r = - 0.599, p < 0.001). The degree of discrepancy between the ultrasound and the calendar methods was associated both with placenta findings (Kruskal-Wallis test, chi2 = 20.95, p = 0.007) and with the main cause of death (Kruskal-Wallis test, chi2 = 27.65, p = 0.004). CONCLUSION: Among infants who died perinatally, gestational age seemed to be systematically downward adjusted by mid-second-trimester screening ultrasound, particularly among those who were the most growth retarded at the time of death.

Case-Control Studies↗
PubMed2003

Residence near power lines and the risk of birth defects.

BACKGROUND: There has been some concern that exposure to electromagnetic fields may cause birth defects. We studied risks of birth defects by residential exposure to 50-Hz magnetic fields from power lines. METHODS: We estimated the distance between residence and power lines for 161,844 Norwegian residences, and their corresponding magnetic fields in the period 1980 to 1997. Risks of 24 categories of birth defects were compared across exposure levels, adjusting for social and demographic variables. RESULTS: Among those living near power lines, the greatest reductions in risk were for cardiac defects (odds ratio = 0.5; 95% confidence interval = 0.3-0.9) and respiratory defects (0.4; 0.2-0.9). The largest increase in risk was for esophageal defects (2.5; 1.0-5.9). Other associations were weaker and had wide confidence intervals. CONCLUSIONS: There was little evidence that residence near power lines affected the risk of birth defects. The observed decreased risks of cardiac and respiratory defects and the increased risk of esophageal defects should be interpreted with caution given the number of endpoints, the imprecision in the calculations of the distance from the residence to the power line, and the limited information on pregnant women's change of residence.

Abnormalities, Radiation-Induced↗