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Prenatally diagnosed submicroscopic familial aberrations at 18p11.32 without phenotypic effect.

ABSTRACT: BACKGROUND:Recent development of MLPA (Multiplex-Ligation-dependent Probe Amplification, MRC-Holland) and microarray technology allows detection of a wide range of new submicroscopic abnormalities. Publishing new cases and case reviews associated with both clinical abnormalities and a normal phenotype is of great value. FINDINGS/RESULTS:We report on two phenotypically normal foetuses carrying a maternally-inherited interstitial submicroscopic abnormality of chromosome 18p11.32. Both abnormalities were found with the aneuploidy MLPA kit P095 during rapid aneuploidy detection, which was offered along with conventional karyotyping. Foetus 1 and its mother have a 1,7 Mb deletion and foetus 2 and its mother have a 1,9 Mb duplication. In both cases normal babies were born. We used the HumanCytoSNP-12 array of Illumina to visualize the CNVs and map the breakpoints. CONCLUSIONS:We suggest that a CNV at 18p11.32 (528,050-2,337,486) may represent a new benign euchromatic variant.

SUBMITTER: Srebniak MI

PROVIDER: S-EPMC3287247 | biostudies-literature | 2011 Dec

REPOSITORIES: biostudies-literature

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Prenatally diagnosed submicroscopic familial aberrations at 18p11.32 without phenotypic effect.

Srebniak Malgorzata I MI Boter Marjan M Verboven-Peerden Carla Ma CM Looye-Bruinsma Gerda Ag GA Oudesluijs Gretel G Galjaard Robert-Jan H RJ Van Opstal Diane D

Molecular cytogenetics 20111202 1

<h4>Background</h4>Recent development of MLPA (Multiplex-Ligation-dependent Probe Amplification, MRC-Holland) and microarray technology allows detection of a wide range of new submicroscopic abnormalities. Publishing new cases and case reviews associated with both clinical abnormalities and a normal phenotype is of great value.<h4>Findings/results</h4>We report on two phenotypically normal foetuses carrying a maternally-inherited interstitial submicroscopic abnormality of chromosome 18p11.32. Bo ...[more]

PMID: 22136596

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Project description:Importance:Parents who receive a prenatal diagnosis of congenital heart disease may experience more short- and long-term stress than those who receive a postnatal diagnosis. To identify potential interventions to ameliorate that stress, the longitudinal emotional experience of parents must first be understood. Objective:To better understand parents' accounts of their own prenatal experience, particularly aspects they found to be stressful or challenging, and to identify strategies to improve support. Design, Setting, and Participants:This qualitative study included analysis of transcripts of audio recorded telephone interviews with pregnant mothers and their support persons, as applicable, who were referred to and seen at the Fetal Cardiology Clinic at Vanderbilt Children's Hospital from May 2019 to August 2019 with an initial likely diagnosis of complex congenital heart disease at any gestational age. Data analysis was conducted from August 2019 to November 2019. Main Outcomes and Measures:An applied thematic analysis approach was used to code and analyze professionally transcribed interviews. Coding and codebook revisions occurred iteratively; intercoder reliability was assessed and confirmed routinely. One author coded all transcripts; a second author independently reviewed one-fifth of the transcripts at fixed intervals to ensure that interrater reliability remained greater than 80%. Results:Twenty-seven individuals from 17 families participated in 42 phone interviews during pregnancy, 27 conducted at the first time point after the initial prenatal cardiology consultation and 15 at the second time point after a follow-up prenatal cardiology visit. Most interviewees were mothers (16 interviewees [59%]; median [interquartile range] age, 30.0 [27.3-34.8] years) or fathers (8 interviewees [30%)], with a few support individuals (3 interviewees [11%]) (median [interquartile range] age of family member or support individual, 30.0 [26.0-42.0] years). Initial fetal diagnoses included a range of severe congenital heart disease. Uncertainty was identified as a pervasive central theme and was related both to concrete questions on scheduling, logistics, or next steps, and long-term unknown variables concerning the definitiveness of the diagnosis or overall prognosis. Practitioners helped families through their framing of uncertainty at various time points including before, during, and after the clinic visit. Conclusions and Relevance:Families walk an uncertain path following a fetal diagnosis of severe congenital heart disease. The challenges faced by the cardiologists caring for them overlap in many ways with those experienced by pediatric palliative care practitioners. Potential future interventions to improve parental support were identified in the areas of expectation setting before the referral visit, communication in clinic, and identity formation after the new diagnosis.

Project description:OBJECTIVE:Whether the use of assisted reproductive technologies (ART) affects the outcome of twin pregnancies is still a matter of debate. Previous studies have evaluated the association between birth weight and ART, without a clear distinction between fetal growth restriction (FGR), a condition at higher risk of adverse outcome, and constitutionally small for gestational age (SGA) fetuses. The aim of this study was to determine whether dichorionic (DC) twin pregnancies obtained by ART have a greater risk of developing FGR, defined by accurate ultrasound criteria, than those spontaneously conceived (SC), and to compare the severity of ultrasound features in the growth restricted fetuses. METHODS:A retrospective study was conducted on DC twin pregnancies delivered between 2010 to 2018 at a tertiary hospital. Twin pregnancies conceived spontaneously were compared with those obtained via in vitro fertilization (IVF) or intracytoplasmic sperm injection (ICSI), after exclusion of cases with major fetal or uterine malformations. The primary outcome was the incidence of FGR. Secondary outcome was the rate of SGA neonates, defined by a birth weight less than the 10th percentile. The ultrasound characteristics of the growth restricted fetuses in the two groups were also compared. The groups were compared using univariate and multivariate analyses. RESULTS:Six hundred and seventy-eight DC twin pregnancies were identified. Of these, 367 (54.1%) conceived via IVF/ICSI and 311 (45.9%) conceived spontaneously. The incidence of FGR was not significantly different between the ART and the SC groups (7.9% vs 8.4% respectively, p = 0.76, adjusted OR 0.84, 95% CI 0.53-1.32). Growth restricted fetuses of the two groups showed similar occurrence of an estimated fetal weight less than the 3rd percentile, similar abnormalities in Doppler studies and similar gestational age at diagnosis. There was no difference in the incidence of delivery of an SGA neonate (p = 0.47) or in the rate of maternal complications and preterm delivery between the groups. CONCLUSIONS:Twin pregnancies conceived by assisted reproductive technologies do not have a higher risk of ultrasound-diagnosed FGR than spontaneously conceived twin pregnancies, and fetuses diagnosed with growth restriction in the two groups show similar severity of the ultrasound findings.

Dataset Information

Prenatally diagnosed submicroscopic familial aberrations at 18p11.32 without phenotypic effect.

Publications

Prenatally diagnosed submicroscopic familial aberrations at 18p11.32 without phenotypic effect.

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