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Inheritance of a Ring Chromosome 21 in a Couple Undergoing In Vitro Fertilization (IVF): A Case Report.

ABSTRACT: An amniotic fluid sample from an in vitro fertilized pregnancy was referred for cytogenetic analysis based on a Down syndrome screening risk of 1?:?21. Routine cytogenetic analysis showed a nonmosaic karyotype of 46,XX,r(21)(p11.2q22.3), with partial monosomy for chromosome 21 due to a ring chromosome replacing one of the normal homologues. Detailed ultrasound scanning for the remainder of the pregnancy did not reveal any unusual findings. Parental bloods showed that the mother was mosaic for the ring 21 with a karyotype of 46,XX,r(21)(p11.2q22.3)/46,XX and the father had an unrelated Robertsonian translocation, with a karyotype of 45,XY,rob(13;14)(q10;q10). Microarray analysis of cultured amniocytes determined the extent of the deletion of chromosome 21 material in the ring. The parents were given genetic counselling, and a phenotypically normal female baby was delivered at term. This case highlights the importance of karyotyping as an initial step in the management of couples referred for in vitro fertilization.

SUBMITTER: Mazzaschi RL

PROVIDER: S-EPMC3447255 | biostudies-literature | 2011

REPOSITORIES: biostudies-literature

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Inheritance of a Ring Chromosome 21 in a Couple Undergoing In Vitro Fertilization (IVF): A Case Report.

Mazzaschi Roberto L P RL Love Donald R DR Hayes Ian I George Alice A

Case reports in genetics 20110731

An amniotic fluid sample from an in vitro fertilized pregnancy was referred for cytogenetic analysis based on a Down syndrome screening risk of 1 : 21. Routine cytogenetic analysis showed a nonmosaic karyotype of 46,XX,r(21)(p11.2q22.3), with partial monosomy for chromosome 21 due to a ring chromosome replacing one of the normal homologues. Detailed ultrasound scanning for the remainder of the pregnancy did not reveal any unusual findings. Parental bloods showed that the mother was mosaic for th ...[more]

PMID: 23074672

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Project description:BackgroundInfertility is estimated to affect approximately 9-30% of reproductive-aged couples. Several conditions involving one or both partners may contribute to infertility. The aim of this study is to evaluate the role of asymptomatic genital tract infections in the outcome of In Vitro Fertilization (IVF) in couples with infertility.MethodsA total of 285 infertile couples were enrolled in the study. Vaginal/endocervical swabs and semen samples were collected and subjected to microbiological analysis. Spermiograms were carried out on semen specimens, and lactobacilli were quantified in vaginal swabs. Data were associated with IVF results and analysed by using non parametric tests and multivariate analysis.ResultsMicrobiological analysis showed that 46.3% of couples presented with an asymptomatic genital tract infection. Spermiogram results showed a significantly diminished motility of sperm cells in samples positive to microbiological testing compared to negative specimens. Enterococcus faecalis was the most prevalent species (11.6%) in positive semen samples and was found to negatively affect both sperm morphology (p = 0.026) and motility (p = 0.003). Analysis of genital swabs from females showed that the presence of E. faecalis (p<0.0001), Escherichia coli (p = 0.0123), Streptococcus agalactiae (p<0.0001), and Gardnerella vaginalis (p = 0.0003) was significantly associated to reduced levels of vaginal lactobacilli. Association of microbiological data with IVF outcome showed that 85.7% of IVF+ couples was microbiologically negative, while IVF was successful in just 7.5% of couples infected with E. faecalis and/or U. urealyticum and/or M. hominis (p = 0.02).ConclusionsThe results show the negative impact of E. faecalis on sperm quality and the association of definite bacterial pathogens with reduced levels of vaginal lactobacilli. The presence of E. faecalis and/or U. urealyticum and/or M. hominis in genital samples of infertile couples is predictive for a negative outcome of IVF.

Project description:BackgroundInfertility affects up to 15% of couples. In vitro fertilization (IVF) treatment has modest success rates and some factors associated with infertility and poor treatment outcomes are not modifiable. Several studies have assessed the association between female dietary patterns, a modifiable factor, and IVF outcomes with conflicting results. We performed a systematic literature review to identify female dietary patterns associated with IVF outcomes, evaluate the body of evidence for potential sources of heterogeneity and methodological challenges, and offer suggestions to minimize heterogeneity and bias in future studies.MethodsWe performed systematic literature searches in EMBASE, PubMed, CINAHL, and Cochrane Central Register of Controlled Trials for studies with a publication date up to March 2020. We excluded studies limited to women who were overweight or diagnosed with PCOS. We included studies that evaluated the outcome of pregnancy or live birth. We conducted an initial bias assessment using the SIGN 50 Methodology Checklist 3.ResultsWe reviewed 3280 titles and/or titles and abstracts. Seven prospective cohort studies investigating nine dietary patterns fit the inclusion criteria. Higher adherence to the Mediterranean diet, a 'profertility' diet, or a Dutch 'preconception' diet was associated with pregnancy or live birth after IVF treatment in at least one study. However, causation cannot be assumed. Studies were potentially hindered by methodological challenges (misclassification of the exposure, left truncation, and lack of comprehensive control for confounding) with an associated risk of bias. Studies of the Mediterranean diet were highly heterogenous in findings, study population, and methods. Remaining dietary patterns have only been examined in single and relatively small studies.ConclusionsFuture studies with rigorous and more uniform methodologies are needed to assess the association between female dietary patterns and IVF outcomes. At the clinical level, findings from this review do not support recommending any single dietary pattern for the purpose of improving pregnancy or live birth rates in women undergoing IVF treatment.

Dataset Information

Inheritance of a Ring Chromosome 21 in a Couple Undergoing In Vitro Fertilization (IVF): A Case Report.

Publications

Inheritance of a Ring Chromosome 21 in a Couple Undergoing In Vitro Fertilization (IVF): A Case Report.

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