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Dyssegmental dysplasia, Silverman-Handmaker type: A challenging antenatal diagnosis in a dizygotic twin pregnancy.

ABSTRACT: BACKGROUND:Dyssegmental dysplasia Silverman-Handmaker (DDSH; MIM 224410) type is an extremely rare skeletal dysplasia caused by functional null mutations in the perlecan gene. Less than forty cases are reported in the literature, of which only four were prenatally detected. METHODS:We report on a dizygotic twin pregnancy from consanguineous parents for which one of the twins presented prenatally with severe micromelia, limb bowing and scoliosis, and postnatally with clinical and radiological features compatible with a diagnosis of dyssegmental dysplasia. Molecular studies were undertaken to confirm the clinical diagnosis of DDSH. RESULTS:Molecular analysis results revealed a novel homozygous variant in the HSPG2 gene (MIM 142461), NM_005529.6(HSPG2):c.4029 + 1G>A, consistent with a diagnosis of DDSH. CONCLUSION:To the best of our knowledge, the current report is only the seventh molecularly confirmed case of DDSH.

SUBMITTER: Basalom S

PROVIDER: S-EPMC6014473 | biostudies-literature | 2018 May

REPOSITORIES: biostudies-literature

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Dyssegmental dysplasia, Silverman-Handmaker type: A challenging antenatal diagnosis in a dizygotic twin pregnancy.

Basalom Shuaa S Trakadis Yannis Y Shear Roberta R Azouz Michel E ME De Bie Isabelle I

Molecular genetics & genomic medicine 20180311 3

<h4>Background</h4>Dyssegmental dysplasia Silverman-Handmaker (DDSH; MIM 224410) type is an extremely rare skeletal dysplasia caused by functional null mutations in the perlecan gene. Less than forty cases are reported in the literature, of which only four were prenatally detected.<h4>Methods</h4>We report on a dizygotic twin pregnancy from consanguineous parents for which one of the twins presented prenatally with severe micromelia, limb bowing and scoliosis, and postnatally with clinical and r ...[more]

PMID: 29526034

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Project description:IntroductionTwin pregnancies have significantly higher rates of perinatal morbidity and mortality compared to singleton pregnancies; current attempts to reduce perinatal mortality have been less successful in twin pregnancies. The paucity of information about modifiable risk factors for adverse neonatal outcomes in twin pregnancies, as well as independent effects of chorionicity may have contributed to this outcome. This study aimed to explore the feasibility of an observational study to identify modifiable factors associated with adverse neonatal outcomes in twin pregnancies.Material and methodsPatients pregnant with twins at six UK hospitals between December 2019-March 2021 completed researcher-administered questionnaires at approximately 20-, 28- and 36-weeks' gestation, recording a wide range of self-reported social, lifestyle and demographic factors, alongside prospectively recorded clinical data from maternity records. Descriptive statistics were used to describe frequencies of exposures; logistic regression was used to determine whether factors were associated with a composite measure of adverse neonatal outcome.ResultsData were collected from 65% (181/277) of eligible participants. A total of 98% (175) of participants had positive views about their participation. Some exposures, including cigarette smoking, supine sleep position and reduced fetal movements were less frequent in twin pregnancies compared to singletons, whereas fertility treatment was more common. Furthermore, different patterns of exposure were seen between monochorionic and dichorionic twins. This pilot study found some associations with adverse neonatal outcomes including: low BMI (OR 8.36, 95% CI: 1.02-68.87), maternal age ≥41 years (OR 9.0 95% CI: 1.07-75.84), maternally perceived high-stress levels (OR 1.96, 95% CI: 1.03-3.75) and inadequate antenatal screening (OR 1.44, 95% CI: 1.01-2.06). Sleep duration ≥9 h and right-sided going to sleep position were more frequent among pregnancies with adverse outcomes. Participants who reported receiving no information on fetal movement and reduced maternal perception of movements were more likely to have an adverse outcome, but sample size prohibited analysis based upon chorionicity.ConclusionsAn observational study of modifiable factors in twin pregnancy is feasible. Differences in the frequencies of exposures between twin and singleton pregnancies highlight the need for twin-specific studies to identify modifiable factors and develop preventative strategies for morbidity and mortality in twin pregnancies.

Project description:Study questionDoes having a male co-twin influence the female twin's reproductive outcomes?Summary answerWomen with a male co-twin had the same chances of being pregnant and having children compared to same-sex twin pairs.What is known alreadyAccording to the twin testosterone transfer (TTT) hypothesis, in an opposite-sex twin pregnancy, testosterone transfer from the male to the female co-twin occurs. A large body of literature supports the negative impact of prenatal testosterone exposure on female's reproductive health in animal models; however, evidence from human studies remains controversial.Study design, size, durationThis cohort study included all dizygotic female twins in the Aberdeen Maternity and Neonatal Databank (Scotland) born before 1 January 1979. The 317 eligible women were followed up for 40 years for any pregnancies and the outcome of those pregnancies recorded in the same database.Participants/materials, setting, methodsFertility outcomes (number of pregnancies, number of livebirths and age at first pregnancy) were compared between women with a male co-twin (exposed group, n = 151) and those with a female co-twin (unexposed group, n = 166). Population averaged models were used to estimate odds ratios (OR) and 95% CI for all outcomes with adjusting for potential confounders.Main results and the role of chanceThere were no differences in chances of having pregnancies (adj. OR 1.33; 95% CI 0.72, 2.45) and livebirths (adj. OR 1.22; 95% CI 0.68, 2.18) between women from same-sex and opposite-sex twin pairs. Women with a male co-twin were more likely to smoke during pregnancy and, in the unadjusted model, were younger at their first pregnancy (OR 2.13; 95% CI 1.21, 3.75). After adjusting for confounding variables (year of birth and smoking status) the latter finding was no longer significant (OR 1.67; 95% CI 0.90, 3.20).Limitations, reasons for cautionThe dataset was relatively small. For women without a pregnancy recorded in the databank, we assumed that they had not been pregnant.Wider implications of the findingsDespite the evidence from animal studies concerning the adverse effects of prenatal testosterone exposure on female health, our results do not support the TTT hypothesis. The finding that women with a male co-twin are more likely to smoke during pregnancy highlights the importance of considering post-socialisation and social effects in twin studies.Study funding/competing interest(s)European Union's Horizon 2020 research and innovation programme under the Marie Skłodowska-Curie project PROTECTED (grant agreement No. 722634) and FREIA project (grant agreement No. 825100). No competing interests.Trial registration numberN/A.

Dataset Information

Dyssegmental dysplasia, Silverman-Handmaker type: A challenging antenatal diagnosis in a dizygotic twin pregnancy.

Publications

Dyssegmental dysplasia, Silverman-Handmaker type: A challenging antenatal diagnosis in a dizygotic twin pregnancy.

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