The contribution of uniparental disomy to congenital development defects in children born to mothers at advanced childbearing age

Ginsburg, Claudia; Fokstuen, Siv; Schinzel, Albert

doi:10.1002/1096-8628(20001218)95:5<454::aid-ajmg9>3.0.co;2-o

Cited by 41 publications

(17 citation statements)

References 25 publications

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“…Another possible factor related to unfavorable impact is fetal uniparental disomy (UPD). In fact, contribution of maternal UPD for chromosome 7 to growth retardation in the prenatal and postnatal period is known as one of the genetic causes of Silver–Russell syndrome . In our case, UPD testing on genomic DNA was not available as the parents declined it.…”

Section: Discussionmentioning

confidence: 86%

“…In fact, contribution of maternal UPD for chromosome 7 to growth retardation in the prenatal and postnatal period is known as one of the genetic causes of Silver-Russell syndrome. 6 In our case, UPD testing on genomic DNA was not available as the parents declined it. However, UPD itself, even if our case had it, may have little impact on the occurrence of observed abnormality in the pregnancy, because previous UPD molecular studies have shown that FGR in CPM2 occurs, regardless of the presence of UPD.…”

Section: Discussionmentioning

confidence: 91%

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Placental abnormalities detected by ultrasonography in a case of confined placental mosaicism for trisomy 2 with severe fetal growth restriction

Nagamatsu

Kamei

Yamashita

et al. 2013

J of Obstet and Gynaecol

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Clinical outcome of confined placental mosaicism (CPM) is varied, from normal pregnancy to intrauterine fetal death. It has been suggested that CPM for trisomy 2 is less likely to cause serious adverse effect on pregnancy. We hereby report a case of CPM for trisomy 2, which presented severe fetal growth restriction (FGR) and placental abnormalities. A 30-year-old woman was referred to our hospital at 17⁺² weeks because of marked FGR. Ultrasonography demonstrated prominent placental hypertrophy with multiple focal defects without any fetal structural abnormalities. Amniocentesis at 18⁺³ weeks revealed normal karyotype. Fetal growth rate worsened with gestational weeks, reaching -7 standard deviation at 36 weeks. At 37 weeks, the fetal condition suddenly deteriorated, ending in a stillbirth of a 756-g female baby. Postnatal cytogenetic analysis by array comparative genomic hybridization revealed trisomy 2 of the chorionic villi, and CPM for trisomy 2 was suggested as the cause of FGR and placental abnormalities.

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Section: Discussionmentioning

confidence: 86%

Section: Discussionmentioning

confidence: 91%

Placental abnormalities detected by ultrasonography in a case of confined placental mosaicism for trisomy 2 with severe fetal growth restriction

Nagamatsu

Kamei

Yamashita

et al. 2013

J of Obstet and Gynaecol

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“…In contrast, mechanisms mediating the effect of advancing maternal age on ASD risk have not been frequently investigated. Advancing maternal age has been associated with chromosomal changes 32, 33 and genomic modifications. 34 …”

Section: Discussionmentioning

confidence: 99%

Autism risk associated with parental age and with increasing difference in age between the parents

et al. 2015

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Advancing paternal and maternal age have both been associated with risk for autism spectrum disorders (ASD). However, the shape of the association remains unclear, and results on the joint associations is lacking. This study tests if advancing paternal and maternal ages are independently associated with ASD risk and estimates the functional form of the associations. In a population-based cohort study from five countries (Denmark, Israel, Norway, Sweden and Western Australia) comprising 5 766 794 children born 1985–2004 and followed up to the end of 2004–2009, the relative risk (RR) of ASD was estimated by using logistic regression and splines. Our analyses included 30 902 cases of ASD. Advancing paternal and maternal age were each associated with increased RR of ASD after adjusting for confounding and the other parent's age (mothers 40–49 years vs 20–29 years, RR=1.15 (95% confidence interval (CI): 1.06–1.24), P-value<0.001; fathers⩾50 years vs 20–29 years, RR=1.66 (95% CI: 1.49–1.85), P-value<0.001). Younger maternal age was also associated with increased risk for ASD (mothers <20 years vs 20–29 years, RR=1.18 (95% CI: 1.08–1.29), P-value<0.001). There was a joint effect of maternal and paternal age with increasing risk of ASD for couples with increasing differences in parental ages. We did not find any support for a modifying effect by the sex of the offspring. In conclusion, as shown in multiple geographic regions, increases in ASD was not only limited to advancing paternal or maternal age alone but also to differences parental age including younger or older similarly aged parents as well as disparately aged parents.

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“…Lindor et al investigated 25 cases with a broad spectrum of multiple congenital anomalies, short stature, mental retardation, and various dysmorphic features [27]. Ginsburg et al [28] found one case with maternal UPD 14, one with paternal UPD 15, and one with maternal UPD 16 associated with a 46,XY/46,XY,der(1)(1;16) karyotype [29] in a group of 45 children with various congenital defects born to mothers older than 35 years. In both studies IUGR or primordial growth retardation was not an obligatory feature.…”

Section: Discussionmentioning

confidence: 99%

No evidence of uniparental disomy 2, 6, 14, 16, 20, and 22 as a major cause of intrauterine growth retardation

Kotzot

Iw²,

Méhes

et al. 2000

Clinical Genetics

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Intrauterine growth retardation (IUGR) is defined as length and/or weight below the 10th percentile. Etiology and, consequently, long-term outcome are extremely heterogeneous with chromosomal abnormalities found in up to 7%. Recently, uniparental disomy (UPD), i.e. the inheritance of both homologues of one pair of chromosomes from only one parent, was found in an increasing number of children with IUGR. Particularly, UPD of chromosome 7 was found in up to 10% of patients with IUGR and/or a phenotype of primordial growth retardation or Silver-Russell syndrome (SRS), but also UPD of chromosomes 2, 6, 14, 16, 20, and 22 was reported in single cases with IUGR. To evaluate impact and relevance of UPD in children with IUGR we investigated 23 sporadic cases with IUGR subsequently diagnosed as primordial growth retardation (n = 13) or SRS (n = 10) by molecular methods for UPD of chromosomes 2, 6, 14, 16, 20, and 22. No instance of UPD was found. Inheritance of all chromosomes investigated was biparental in all cases. Therefore, we conclude that UPD of these chromosomes is not a major cause of IUGR.

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The contribution of uniparental disomy to congenital development defects in children born to mothers at advanced childbearing age

Cited by 41 publications

References 25 publications

Placental abnormalities detected by ultrasonography in a case of confined placental mosaicism for trisomy 2 with severe fetal growth restriction

Placental abnormalities detected by ultrasonography in a case of confined placental mosaicism for trisomy 2 with severe fetal growth restriction

Autism risk associated with parental age and with increasing difference in age between the parents

No evidence of uniparental disomy 2, 6, 14, 16, 20, and 22 as a major cause of intrauterine growth retardation

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