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It can occur through intrauterine transfer of hematopoietic cells between the fetuses via vascular anastomoses. Materials and Methods: Cytogenetic analysis of whole blood lymphocytes was performed twice - after delivery and at age of 6 months of the children. DNA was subsequently extracted from buccal cells and from suspensions of cultivated lymphocytes used for karyotyping.

DNA profiling was performed with a special attention on markers located on X and Y-chromosomes. Results: A demonstrable blood chimerism was detected by karioyping and DNA analysis after birth in both twins. DNA data from cultivated lymphocytes was in accordance with the cytogenetic results and confined the blood chimerism. This phenomenon was not detected by DNA analysis of buccal cells of both twins. Conclusions: An efficient use of both cytogenetic and molecular analysis techniques in this case of blood but not buccal cells chimerism was demonstrated.

In this case no genital anomalies are detected up to now. Hadjidekova: None. Staneva: None. Mihova: None. Zaharova: None. Introduction: Carrier screening is a genetic test used to determine if a healthy person is a carrier of a recessive genetic disease. The goal of carrier screening is to help individuals understand their risks of having a child with a genetic disorder and review the range of options available to guide pregnancy and family planning.

Adult-onset conditions and X-linked genes in males are not analyzed. Couples are offered complete screening for partner one and check for partner two genes with actionable variants. It can be especially used in couples from regions with high consanguinity as well as ethnicities with high incidence of certain genetic diseases even without any family history of genetic disease to understand their genetic risks. Vogel: A. Employment full or part-time ; Significant; Centogene AG.

Kishore: A. Kandaswamy: A. Weiss: A. Oprea: A. Rolfs: A. Bauer: A. We have designed a NGS next-generation sequencing amplicon-based panel testing key mutations of 77 genes which can influence reproductive health of prospective parents or can cause recessive disorders in offspring. We have developed a bioinformatic pipeline using local installation of Ensembl genomic database for annotation and SQL server variant database for data handling and clinical reporting.

A software tool developed for the application generates report semi-automatically. Results are grouped according to clinical impact: 1 mutations in genes associated with severe recessive disorders in offspring e. We analysed samples In the year couples in IVF programme individuals , gamete donors F , M 15 and individuals with a reproductive disorder without compatibility testing F 88, M Lhota: None.

Zembol: None. Soldatova: None. Stejskal: None. We report on three brothers and one sister born to non-consanguineous parents. The sister and two of the brothers suffer from hearing loss. In addition, the affected brothers, but not the sister, are infertile. However, both brothers conceived a child after ICSI. The sister and the unaffected brother each conceived children spontaneously. Conventional chromosomal analysis of the affected brothers demonstrated apparently normal karyotypes, whereas array-CGH revealed a homozygous loss of approximately 45 kb on chromosome 15q Homozygous microdeletions in 15q This homozygous loss was also demonstrated in the sister.

Both parents were heterozygous for this deletion. CKMT1B is translated to a mitochondrial creatine kinase. STRC encodes stereocilin, a protein required for the function ofthe outer hair cells in the inner ear. Functional analysis of sperm from one of the affected brothers demonstrated a lack of functional CatSper channels - this deficit explains the infertility and IVF failure Brenker et al.

Brenker: None. Hoffmann: None. Krallmann: None. Kliesch: None. Materials and Methods: Initial CfDNA screening was ordered by the referring physicians and performed by a variety of technologies. One-hundreds and eighteen confirmatory samples were sent to our lab following a high risk cfDNA test result. PPV stratified by maternal age was calculated for maternal age-dependent aneuploidies. Conclusions: The higher rate of confirmatory AF after a SCA high-risk result probably indicates that referring clinicians are aware of the proneness of sex chromosomes to generate confined placental mosaicism, therefore causing a decreased PPV when using CVS for SCAs.

A possible hypothesis for the higher PPV of CVS for non-mosaic trisomies might be the performance of an ultrasound-scan before the choice of confirmatory invasive procedure, whereby amniocentesis is preferred when no ultrasound anomalies are identified. Grati: None. Branca: None. Bajaj: None.

Gross: None. Ferreira: None. Genome-wide NIPT would greatly expand the range of chromosomal rearrangements detectable. In this study, we expanded conventional cfDNA-based NIPT to cover the entire genome in a large general population of pregnant women, in order to assess the incidence of chromosomal abnormalities not detectable by traditional NIPT. Method Sequencing data were analyzed using algorithms for common fetal aneuploidies, aneuploidies and subchromosomal aberrations.

Clinical outcomes were obtained in Results :Clinically relevant chromosomal abnormalities were detected in 1. The specificity for common aneuploidy, RAT and segmental aneuploidies was Conclusion: The results of this study demonstrate that genome-wide cfDNA analysis represents an enhanced screening tool for prenatal detection of chromosomal abnormalities, allowing identification of clinically relevant imbalances that are not detectable by conventional cfDNA testing.

This screening provides improved detection rate as compared to conventional NIPT, with no appreciable decrease in specificity. These findings provide substantial evidence for the feasibility of introducing genome-wide NIPT into routine prenatal diagnosis practice.

Fiorentino: None. Bono: None. Pizzuti: None. Polverari: None. Duca: None. Faieta: None. Baldi: None. Sessa: None. Diano: None. Spinella: None. Introduction: to investigate the incremental yield of detecting submicroscopic chromosomal abnormalities by genomic microarray compared to karyotyping in high risk fetuses after combined testing.

Materials and Methods: A total of fetuses, with a high risk after combined test, were tested by conventional CVS karyotyping. If the short-term cytogenetic analysis appeared to be normal, women were informed about CGH-array analysis. If the woman refused the CGH-array, a karyotype analysis was carried out using the long-term culture method. In these cases, karyotyping was completed with long-term culture methods confirming the chromosomal normality. Submicroscopic chromosomal abnormalities were detected only in two cases 1.

One was an incidental finding with the detection of a microdeletion causative of dystrophinopathy in a female fetus. In the other case, it was a pathogenic 22q Conclusions: CGH-array analysis, performed only after a multidisciplinary counselling, should also be part of the investigation in fetuses with biochemical high risk after a combined test. Ronzoni: None. Persico: None.

Sajeva: None. Silipigni: None. Guerneri: None. Alberico: None. Boito: None. Fabietti: None. Disegni: None. Lalatta: None. Objectives: To establish the frequency of pathogenic submicroscopic chromosome aberrations in fetuses that are not at increased risk for unbalanced structural chromosome aberrations, a systematic literature search was performed. The aim was to determine whether high resolution testing for submicroscopic aberrations is beneficial in a general pregnant population.

Methods: On 3rd June Embase and PubMed databases were systematically searched for all relevant articles on prevalence of pathogenic submicroscopic CNVs in fetuses tested due to advanced maternal age or parental anxiety. Relevant full text articles were analyzed and based on the extracted data the prevalence of submicroscopic CNVs was calculated.

The prevalence of early onset syndromic disorders due to a submicroscopic aberration was calculated to be , based on 0. Conclusions: This systematic review shows that a significant proportion of fetuses in a general pregnant population carry a submicroscopic pathogenic CNV. Based on these figures all women should be informed on their individual risk for all pathogenic chromosome aberrations and not only for common trisomies.

Srebniak: None. Joosten: None. Knapen: None. Arends: None. Polak: None. Go: None. Van Opstal: None. Chromothripsis is characterized by extensive genomic rearrangements consisting in multiple deletions and disordered orientation of the rearranged portions of one or few chromosomes. By whole genome sequencing WGS in three unrelated families, we demonstrated that in one parent of each family a balanced chromothripsis was present causing a genomic imbalance in the index case consisting in a deletion and a non-contiguous duplication within 3q In all parents-of-origin a small size fragment of the shattered chromosome was inserted into an additional chromosome.

Our findings strongly indicate that i both simple and complex unbalanced rearrangements, can in fact be recombinant chromosomes derived by a balanced chromothripsis present in one healthy parent; ii WGS investigations in the parent may reveal unexpected genomic complexity that are impossible to foresee by conventional and molecular cytogenetic approaches; iii insertional translocations cannot anymore be considered three breakpoints events but rather are the spy of more complex rearrangements.

Our partially novel and partially confirmatory data call for WGS as first tier genomic analysis in order to properly evaluate any possible risk for chromosome imbalances at following pregnancies. Kurtas: None. Zumerle: None. Leonardelli: None. Giussani: None. Pansa: None. Cardarelli: None. Bertini: None. Errichiello: None. Delledonne: None. Zuffardi: None. Introduction: Prenatal diagnostics has been impacted by technological changes in the past decade, which have affected the diagnostic yield.

The aim of this study was to evaluate the impact of SNP array and non-invasive prenatal testing NIPT on the diagnostic yield and the number of invasive tests in our center. Results: The introduction of microarray led to an additional yield of submicroscopic pathogenic chromosome aberrations in 1.

The introduction of NIPT led to a decrease of invasive tests, but also of the diagnostic yield. Because NIPT as a second screening has resulted in a decreased diagnostic yield it should be accompanied by an appropriate pre-test counseling in high risk pregnancies. Diderich: None. Heydanus: None. Dijkman: None.

Toolenaar: None. Knijnenburg: None. Galjaard: None. This condition is characterized by two pelvicalyceal units draining a single kidney. It can be either complete or partial. The objective of our study was to examine the rate for chromosomal aberrations in isolated prenatal sonographic finding. Data from all chromosomal microarray analyses CMA reported to the Ministry of Health between January and December were retrospectively obtained from a computerized database.

All pregnancies with sonographic diagnosis of isolated duplex renal collecting system and documentation of CMA result were included. Rate of abnormal CMA findings in these cases was compared to that of the general population risk, based on a systematic review encompassing cases with normal ultrasound, and a local data of pregnancies undergoing CMA due to maternal request. One pathogenic CMA finding was found amongst 98 pregnancies with double collecting system 1. In addition, two variants of unknown significance were demonstrated 2.

This is the first report describing the rate of chromosomal anomalies in pregnancies with isolated duplex renal collecting system. It is suggested that routine invasive prenatal testing with CMA analysis in such cases is no more useful than in the general population.

Prospective larger studies are needed to guide the optimal management of pregnancies with isolated duplex renal collecting system. Singer: None. Maya: None. Frumkin: None. Zeligson: None. Berger: None. Ben Shachar: None. Vinkler: None. Sagi-Dain: None. The fibrous sheath is a unique cytoskeletal structure located in the principle piece of the sperm flagellum with more than 13 protein components.

AKAP4 is the most abundant protein in the fibrous sheath, which interacts with at least 3 other proteins. The molecular structure and functionality of the fibrous sheath are largely unknown. We collected a clinic sample of sperms featured by dysplasia of fibrous sheath DFS , leading to a failure of natural conception. The sperm donor is an offspring of consanguineous family, and we identified an inherited homozygous truncating mutation in his genome by whole-exome sequencing. The affected protein is one of the components of fibrous sheath, and this mutation caused a shortened protein which lost part of the original functions.

The mice model with this mutation introduced by CRISPR-Cas9 technique showed similar phenotype to the human, with sperms of reduced number and lower motility due to flagellum malfunction. Microscopic observation of testis slices and in-situ hybridization showed abnormal cross-section of the seminal vesicles and disorganized progression from spermatogonia to spermatid, when comparing the knock-out mice model with the control ones.

Therefore, we concluded that this gene is of critical importance to normal spermatogenesis and testis development. Introduction: Whole exome sequencing is a diagnostic tool in postnatal settings for individuals with a suspected genetic condition.

Recently, its application in prenatal settings has increased and is sporadically used as a diagnostic tool. We present here our experience using this approach in a prenatal setting. Material and Methods: Exome sequencing was performed in 42 fetal samples carrying different ultrasound anomalies. In 10 of the samples previous prenatal CGH-array was performed with negative result.

Segregation studies were performed in cases with a candidate variant when possible. Results: Common reasons for referral were skeletal anomalies, polymalformated fetuses, cerebral anomalies or monogenic disorder suspicion Noonan syndrome. No pathogenic variants were found in polymalformated fetuses or fetuses with cerebral anomalies.

Conclusion: Exome sequencing is a valuable diagnostic tool in fetuses with ultrasound anomalies, especially when skeletal anomalies are present or Noonan syndrome is suspected. Segura-Puimedon: A. Campos: A. Datta: A. Banchs: A. Mattlin: A. Sarria: A. Abad: A. Ownership Interest stock, stock options, patent or other intellectual property ; Significant; Quantitative Genomic Medicine Laboratories, qGenomics.

Armengol: E. Introduction: In the past decade, NGS-based technologies have been disruptive in many areas of clinical genetics, mainly related to the diagnosis of known entities. Reproductive medicine has not been excluded from these advances, and expanded carrier screening ECS has become increasingly used, both for couples at risk and general population. Results: A pathogenic variant por G6PD X-linked haemolytic anemia was found in an apparently healthy man. ACMG guidelines are mainly focused on diagnosis of affected individuals, but variant classification for ECS must be based on data not related to the phenotype.

Menazzi: A. Fabbro: A. Lorenzi: A. Bilinski: A. Fernandez: A. Galain: A. Nicotra: A. Chekherdemian: A. Nodar: A. Papier: A. Introduction: Expanded carrier screening ECS has broadened in recent years from high risk population-targeted testing to general public screening.

Here we describe the ECS test developed at our department of Genetics and our initial results. Materials and Methods: Based on focus group discussions, we designed and implemented a couple-based ECS multi-gene test for 70 rare, early onset and serious recessive Mendelian conditions using NGS technologies. Concentrating on couple-based screening, emphasis was on the combined risk for having affected children. The a priori risk of being a carrier couple is approximately 1 in and increases for those referred for medical reasons e.

Only results with high predictive value regarding affected offspring were reported in the combined result. Results: A total of couples were tested, 52 potential high-risk couples and general public couples as part of an population-based implementation study.

Five couples, referred for diagnostic reasons, shared carriership of one of the diseases tested. All remaining couples tested normal. Reporting times averaged at 38 days, and in some cases even within 2 weeks. Conclusions: Our combined approach for ECS testing allows for a fast, simplified procedure to report a combined risk to couples, forestalling the burden of individual findings. Broader implementation e.

Future international discussions will guide further development of such important screening tests. Abbott: None. Dijkhuizen: None. Veldhuis: None. Schuurmans: None. Sinke: None. Introduction: Genomic sequencing is emerging as an important tool in the diagnosis of lethal fetal disorders and structural malformations. We sought to determine the clinical utility of genomic sequencing as an adjunct to standard antenatal imaging and fetal autopsy, as well as the impact of molecular diagnosis on clinical care.

Materials and Methods: We performed a retrospective review of perinatal cases referred to the Monash Genetics Unit between and in the setting of structural malformations or fetal-death-in-utero. Testing comprised either a targeted panel or whole exome sequencing in a clinically accredited laboratory. Conclusion: Genomic sequencing enhances the diagnostic yield of standard fetal imaging and autopsy and improves patient care. Objective: The elective genetic testing for structurally abnormal fetuses is chromosomal microarray analysis CMA.

We investigated the value of next generation sequencing NGS studies in fetuses with selected structural anomalies and normal CMA. Finally, clinical exome sequencing was performed in recurrent or multisystem anomalies with no specific syndrome suspicion. Borrell: None. Pauta: None. Borobio: None.

Badenas: None. Objective: To explore the indications and diagnostic outcomes of fetal exomes in a single referral center. Methods: 77 unrelated fetal samples underwent exome sequencing between Indications, turnaround time, diagnostic rates, and pregnancy outcomes were analyzed. Proband-only cases received a diagnosis more often than trio exomes. Conclusion: Exome sequencing has the potential to provide molecular diagnoses in cases where conventional prenatal cytogenetic testing is negative.

A referral bias of consanguineous cases could account for the high diagnostic rate for proband-only sequencing. Syndrome-specific prognostic information enables parents to make informed decisions, whereas challenges include time limitations and variant interpretation in the setting of non-specific fetal findings. As we report only established disease-gene associations, further segregation and functional studies in a research setting are expected to significantly increase the diagnostic yield.

Of these cases, 48 Retrospective application of FFBR demonstrated that these cases could have been identified as at-risk at time of SNP-based NIPT, allowing for a more informed genetic counseling and prenatal management. Krinshpun: A. Employment full or part-time ; Significant; Natera, Inc. DiNonno: A. McKanna: A. Ryan: A. Martin: A. Introduction: One of the most significant features of the human genome is high variability. Genomic variations occur during ontogenesis in various tissues and organs leading to the tissue-specific mosaicism.

However, phenomenon and mechanisms of a low-level gonosomal mosaicism in women of reproductive age have not been properly described and clarified. Materials and Methods: preparations from buccal smear 34 and peripheral venous blood 32 each woman had at least one healthy child. Three groups were formed that included woman of different ages: years 1 , years 2 and years 3.

FISH-analysis with centromeric probes on chromosomes X and 18 in accordance with the standard protocol. Results: The study found that in the blood of healthy women there is a physiological low-level mosaicism with a clear trend in increased proportion of abnormal cells associated with the increasing age to 1. The buccal smear also exhibited physiological pattern of a low-level mosaicism, however, the level of mosaicism was statistically insignificant in different age groups and, on average, was 4.

It is shown that mosaicism in buccal smear is represented by two cell lines: one is with disomy and another one includes monosomy on chromosome X. Conclusion: The obtained data can be a reference for the evaluation of low-level mosaicism in fertile women.

Tarlycheva: None. Markova: None. Volkova: None. Shilova: None. Introduction: Hypergonadotropic hypogonadism HH is characterized by hypogonadism due to an impaired response of the gonads to gonadotropins Gn and a secondary lack of sex steroid production and elevated Gn levels. HH can be caused by environmental factors and congenital disorders that affect ovarian development and function, as well as syndromic and non-syndromic single gene disorders.

However, in most cases of gonadal dysfunction the molecular etiology remains an enigma. Subjects and Methods: To identify novel molecular causes in HH we applied whole exome sequencing WES to 33 affected female individuals from 30 unrelated families including 22 with parental consanguinity. In seven unrelated families, we identified likely pathogenic variants in candidate disease genes. In three of these families, each with one apparently sporadic case, biallelic variation in IGSF10 was found.

Two of the three families had reported parental consanguinity. IGSF10 encodes a amino-acid member of the immunoglobulin superfamily that is likely involved in controlling early migration of neurons expressing gonadotropin-releasing hormone. Colombo: None. Jolly: None. Bayram: None.

Karaca: None. Di Simone: None. Scambia: None. Tos: None. Jhangiani: None. Akdemir: None. Posey: None. Lupski: None. Isodicentric chromosome 21 is an extremely rare chromosomal aberration. Only several cases have been reported worldwide. The phenotype of patients with 46,idic 21 q We report a girl born in th week from first pregnancy; prenatal screening USG and a double test performed in th week of gestation predicted a 6-fold increased risk of Down syndrome.

Noninvasive prenatal testing using cffDNA from mother's blood did not show increased risk of trisomy 21 in fetus. Invasive prenatal testing was not performed. After birth, phenotypic features of trisomy 21 were observed in the child. Cytogenetic testing performed from the periferal blood revealed an unbalanced karyotype 46,XX,idic 21 q Microarray additionally revealed a terminal microdeletion sized Both parents were tested and confirmed negative for any chromosomal aberration from blood and fibroblasts and they have been informed about phenomena of germinal mosaicism in gonadal DNA.

Further studies are needed to assess sensitivity of NIPT in the cases of Down syndrome, not caused by simple trisomy We conclude that invasive prenatal diagnosis should be proposed in all pregnancies with increased trisomy risk, even if NIPT results are negative. High resolution microarray testing can be helpful in identification of microdeletions in patients with idic 21 and could delineate genotype -phenotype correlations.

Pietrzak: None. Wleczyk: None. Bernatowicz: None. Kashyap: None. Studniak: None. Bonda: None. Kossowski: None. Previous methods of detecting disease-related genes included large family studies. In disorders, such as infertility, natural selection prevents transmission of mutations, and therefore many genes whose mutations cause infertility are not yet known. Materials and Methods: In order to investigate potential roles of de novo mutations in male infertility we performed trio whole exome re-sequencing in 13 infertile males and their parents.

All infertile males were diagnosed with idiopathic azoospermia. Results: We identified de novo mutations in three infertile males. Previous studies have shown that NEURL4 contributes to germ cell formation in Drosophila, while the BRD2 is essential for chromatin remodeling during spermatogenesis in mice.

The third gene with de novo mutation SEMA5A has not yet been implicated in reproduction, but it shows expression in testis. Conclusions: We identified potentially new genes and mechanisms involved in the pathogenesis of male infertility. Maver: None. Zorn: None. Plaseska-Karanfilska: None. Peterlin: None. Karyotyping has an important role in the genetic work-up of POC specimens, since approximately one half of miscarriages are due to chromosomal imbalances. Each of these methods has its advantages and disadvantages.

Additionally, the TAT is significantly long. The targeted FISH, only covers chromosomes and therefore provides incomplete information. It cannot detect any structural abnormalities. Prenatal diagnosis by karyotype determination is done mostly to provide assurance, since majority of the pregnancies would have a normal karyotype.

Therefore, fast and accurate information is highly critical for management of the pregnancy. However, the same limitations mentioned for POC also apply to prenatal diagnosis. However, with a proper workflow, results can be delivered in less than 2 hours.

Bhattacharya: A. Employment full or part-time ; Significant; Dr. Lal PathLabs Ltd. Lal: A. Lal PathLabs Ltd.. Genetic work-up may lower the uncertainty, acknowledge the recurrence risks and enable wiser management of future pregnancies. Microarray technology CMA plays a major role in identifying genetic etiology of prenatal and postnatal pathologies, raising detection rate compared with karyotyping. The CMA chip includes copy number and singe nucleotide polymorphism probes, enabling identification of small copy number changes, mosaicism and homozygous regions throughout the genome.

Methods: We performed CMA on placental tissue of IUFD, gathered information regarding mothers and fetuses charachteristics, and compared with information of women who underwent prenatal diagnosis during the same period. The chance of finding a pathogenic aberration in in IUFD with congenital anomalies was higher than other women.

Homozygosity analysis had no advantage over CNV analysis. Lobel: None. Bar Meir: None. Michaelson- cohen: None. Koka: None. Schwed: None. Samueloff: None. Weiss: None. Ben Uziyahu: None. Levy-Lahad: None. Segel: None. Male infertility is a clinically and genetically highly heterogeneous disease, mostly caused by spermatogenetic failure. The most severe form is non-obstructive azoospermia NOA.

First, the routine chromosomal and AZF analyses were performed. In a second step, sequence analysis of three genes was carried out. Chromosomal analyses were performed in patients of whom 60 AZF deletions were found in 1. Potentially pathogenic variants were identified in 6 patients 4.

One mutation in TEX11 c. In conclusion, the basic genetic analyses in men with NOA by conventional cytogenetic analysis and AZF screening revealed the expected number of aberrations. Stratis: None. Hankamp: None. Burkhardt: None. Dreier: None. Ruckert: None. Gromoll: None. Wieacker: None. Considering the complexity of spermatogenesis, it is likely that a substantial proportion of this uncharacterised aetiology may be explained by unknown genetic factors.

Currently, the role of genomic copy number variants CNVs in male infertility is not well defined. We aimed to characterise genome-wide profile of CNVs among Estonian men with idiopathic infertility. Cases comprised of idiopathic non-obstructive azoospermia or oligozoospermia patients.

Controls represented partners of pregnant women. Results: Infertility patients and fertile men did not differ in their overall CNV load. However, an enrichment of asymptomatic carriers of known microdeletions and microduplications was observed among patients. Additionally, a novel recurrent CNV overlapping an uncharacterized testis-specific gene, was detected solely in seven infertility cases.

Replication analysis for its association with male infertility is ongoing in a larger Estonian cohort. Conclusions: Diagnostic yield for the patients with impaired spermatogenesis may be increased via introducing profiling of genome-wide genomic rearrangements into clinical routine.

Punab: None. Kasak: None. Laasik: None. Valdner: None. Laan: None. Meckel-Gruber syndrome MKS is a lethal autosomal recessive disorder characterized by a classic ultrasound triad of occipital encephalocele, polycystic kidneys and postaxial polydactyly. In this case report, a prenatal sample from a fetus with MKS clinical features was screened for 21 genes using a targeted next-generation sequencing panel using a Ion PGM System Thermo Fisher Scientific.

Two novel pathological variants, both resulting in stop codons, p. Sanger sequencing confirmed the carrier status of the parents. Our results show that our Meckel-Gruber targeted next-generation sequencing gene panel is an effective tool for the identification of pathological variants involved in this syndrome and confirms the possibility of obtaining a faster and accurate prenatal genetic diagnosis.

Izquierdo Alvarez: None. Miramar Gallart: None. The incidence of congenital anomalies in ART babies is higher than that of babies born with spontaneous pregnancy. The cause of this situation is unknown. Three mechanisms are known to cause congenital anomalies in ART pregnancies: point mutation, chromosomal disorders, epigenetic abnormalities. An important factor in epigenetics is microRNA. Studies have shown microRNAs are associated with fertility and development.

The aim of this study to demonstrate whether infertility-related miRNAs are different in children born with spontaneous pregnancy compared to those born with ART. The other aim of the study to show whether miRNAs are associated with anomalies and dysmorphic findings in patients. A total of 38 term newborns included the study. In Akdeniz University Hospital, a baby born with 21 ART and 17 spontaneous pregnancies within one year was included in the study.

Plasma samples were taken from newborns. Quantitative real time -PCR was performed with specific primers for miR reference gene and miR, 21, 23, 92, , , , target genes. REST software was used for the normalization of relative expression values. In our preliminary results signed that infertility-causing miRNAs in parents might be cause of congenital anomalies in newborns.

Project code:TTU Gozum: None. Toylu: None. Nur: None. Sakinci: None. Clark: None. Mihci: B. Research Grant principal investigator, collaborator or consultant and pending grants as well as grants already received ; Significant; Akdeniz University Scientific Research Projects Foundation. Preimplantation genetic diagnosis PGD is an alternative procedure to prenatal diagnosis for couples at-risk to have children affected with a severe genetic disease, such as a mitochondrial DNA mtDNA disorder.

PGD relies on the genetic analysis of one or a few cells sampled from in-vitro fertilized embryos, between day 3 and day 5 of development. In the case of mtDNA disorders, quantification of the mutant load on these cells is performed in order to assess the risk for the embryo to develop a severe mitochondrial disease, either in utero or in childhood.

Our year experience supports the reliability of such procedure. Overall 15 heteroplasmic patients were included in our PGD program. A total of 26 cycles were started, 25 oocytes retrievals and 16 embryo transfers were performed, resulting in 3 pregnancies and birth of 3 children. PGD remains a cumbersome procedure with a low success rate, which cannot be applied to homoplasmic or critically homoplasmic patients. There is therefore a strong need to develop alternative procedures such as nuclear transfer.

Steffann: None. Monnot: None. Gigarel: None. Rotig: None. Rio: None. Frydman: None. Hesters: None. Munnich: None. Bonnefont: None. Introduction: Mosaicism is characterized by a normal and an abnormal cell-line. Test results on cell-free DNA cfDNA in maternal plasma can be compromised as the fraction of abnormal cells may be too low for detection. We wanted to explore the detection rate of both confined placental and fetal mosaicism using cfDNA sequencing on maternal plasma.

Methods and Material: We retrieved data on invasive samples from mosaic pregnancies obtained from to The mean level of mosaicism in the invasive samples was It seems that the level of mosaicism in the invasive samples predicts whether or not cfDNA testing is able to detect the abnormal cell-line; however a high-level mosaicism of trisomy 21 was missed.

In the future, we need to learn more about placental mosaicism in general and in particular the comparability between the detection rates of the new non-invasive methods. Lund: None. Vestergaard: None. Becher: None. Lildballe: None. Schelde: A. Employment full or part-time ; Significant; Arcedi Biotech Aps. Hatt: A. Singh: A.

Petersen: None. Uldbjerg: None. Vogel: None. Despite recent progresses in molecular diagnosis, the etiology of POI remains idiopathic in most cases. Exon trapping experiments showed that the splice-site mutation induced skipping of exon At the protein level, the mutation p. Carlosama: None. Elzaiat: None. Mateus: None. Veitia: None. Laissue: None. NeoBona is the first test using such approach, we evaluated its performance by screening a large cohort of consecutive average risk gestations.

NeoBona test was used to determine the likelihood of aneuploidy Tscore based on FF, counting statistics and cfDNA size distribution where cut-offs were applied to classify normal and aneuploid cases. Test results were provided in Vanishing twins of discrepant sex were suspected in 5 cases and 4 maternal X aneuploidies were identified.

Removing the need of a lower FF limit allowed cfDNA analysis to be successful on a high proportion of clinical cases extending the benefits of cfDNA screening to a larger population of pregnancies. Cirigliano: None. Rueda: None. Nicolas: None. Grau: None.

Castilla: None. Puertollano: None. Lechuga: None. In our institute we processed more than samples over a 6 month period. Our in house NIPT workflow allows the identification of trisomies involving chromosome 13, 18 and 21 but also trisomies affecting other autosomes as well as sex chromosomes aneuploidies. Intrachromosomal rearrangements are also investigated using a 1 Mb sliding window approach. This allowed us to identify fetal rearrangements in a number of cases but also maternal rearrangements with an unpreceded power.

Indeed given the prevalence of maternal cfDNA in purified cfDNA prepared from the blood of pregnant mothers, some rather small rearrangements can be pin-pointed quite reliably. Maternal CNVs can usually be distinguished from fetal ones by the level of significance of the intrachromosomal Z-score.

The majority of these CNVs are duplications 68 duplications and 43 deletions some of which overlap syndromic genes. Some correspond to large known CNVs. However, some large CNVs ranging from 1 to 5 Mb seem to be rare familial deletions or duplications probably not associated with any pathogenic phenotype.

Marichal: None. Grisart: None. Billard: None. Feret: None. Hougardy: None. Rombout: None. Hilbert: None. Meunier: None. Simonis: None. Dahan: None. Introduction: To deliver a high standard of laboratory testing, external quality assessment EQA is required to provide important information for clinicians, laboratories and patients, demonstrating that accurate testing is being performed and reported. The delivery and results of a large international pilot EQA for laboratory NIPT for aneuploidy using maternal plasma samples is described.

Results: Ninety-five laboratories from 30 countries participated. The use of maternal plasma allowed any testing methods to be applied. Two critical errors were reported; one false positive and an incorrect high-risk trisomy 18 result. Reports lacked details of methods, limitations, and many formats made it difficult to identify key clinical recommendations. Conclusions: Growing international demand for participation demonstrates the clinical need for an independent evaluation of NIPT practice.

The genotyping accuracy was good but review of the large number of reports submitted highlighted the need for further standardisation and guidance on NIPT reporting. Deans: None. Khawaja: None. Hastings: None. Rack: None. Patton: None. Gutowska-Ding: None. Jenkins: None. Allen: None. Chitty: None. Sistermans: None. Introduction: Currently used approaches for determination of fetal sex in noninvasive prenatal testing NIPT have shown limitations in correct prediction of fetal sex in cases of twin pregnancies.

Aim: To test the feasibility and to validate the new bioinformatic algorithm called SCAR to predict sex of both fetuses in twin pregnancies with utilisation of whole genome coverage genomic scan of circulating DNA from pregnant plasma. Materials and Methods: Low coverage whole genome sequencing analysis was performed on MiSeq and NextSeq platforms on circulating DNA of 76 pregnant women with twins according to previously published protocol. For each of the fetuses sex determination algorithm SCAR predicted the most probable combination of twin sexes: girl-girl; girl-boy or boy-boy according to fetal fraction counted from fragment lengths and reads mapped on Y chromosome.

All predictions were verified after delivery. Results: Among 76 twin pregnancies, 70 were identified correctly and 6 cases were found as uninformative. Minarik: None. Lateral and AP skull radiographs showed large cranium in relation to the face, severe demineralization of the calvaria and the skull bones associated with large hypomineralized anterior fontanel and hypoplastic mandible.

AP hand radiographs showed flexion contractures of the interphalangeal joints with short broad metacarpals and phalanges and overlapping of the fingers, duplication of the fifth finger bilaterally, defective ossification of the first fingers with subsequent development of delta phalanges of the first, second, and fifth metacarpophalanges. The metacarpophalanges are broad and short with hypoplastic and bowing of the radius and ulna, and sub-luxated elbows.

AP chest radiograph showed thoracic hypoplasia, delayed ossification of the vertebral bodies, coronal clefts, and dysplastic clavicles with gracile, wavy, and thin ribs. AP radiograph of the lower limbs at the age of 1 year showed severe anatomical distortion of the acetabulofemoral structures with subsequent dislocation associated with delayed ossification of the pubic bones and sacroiliac hypoplasia with bowing of the femora, there is bilateral bowing of the tibiae and bilateral fibular aplasia remnants of fibular cartilaginous anlage causing effectively the development of bilateral dislocated ankle joints and the feet are in vulgus position.

Lateral skull radiographs of the mother unusual ossification and bossing of the frontal sinus arrow , calcification of the calvaria but wormain bones along the posterior skull aspect were present arrow head. AP feet radiograph showed bilateral fusion of the cuboid with the lateral cuneiform arrow bone with subsequent development of metatarsus varus with dysplastic distal phalanges and broad first ray of the great toe, though the 2, 3, 4, and 5th toes are dysplastic.

The results were validated by PCR amplification of selected exons followed by bidirectional fluorescent direct sequencing Sanger Mutation c. The reconstruction of the lower limbs will be performed via operation of tibia with resection of the fibular cartilagineous anlage.

This will take place in June in Speising orthopaedic hospital. Of course, no interventions until a dynamic cervical spine MRI assesses the dysplastic C Additional surgical procedures are warranted, but are not planned at this point. Both Hips and ankle joints need further observation and assessment. Preis et al. The mother of one of the boys manifested a large skull with prominent forehead, hypertelorism, low-set ears, high-arched palate, and retrogenia. She also had hearing loss and mild flexion contracture of the right elbow.

On radiologic examination, the maxillary sinuses were absent, and the bone density of the skull bones and long bones was increased. They found reports of 20 fully affected patients and 9 partially affected mothers, including their patient 9.

Interestingly, multiple joint dislocations of elbows, hips, knees and ankle joints were notable. In addition there was bilateral and symmetrical fibular aplasia with remnants of fibular cartilaginous anlage causing valgus position of the feet, noteworthy features in the mother include; short stature, semipugilistic face, nasal tonation, small hands, and feet.

Radiographs of the mother showed bilateral fusion of the cuboid with the lateral cuneiform bone with subsequent development of metatarsus varus with dysplastic distal phalanges and broad first ray of the great toe, through the 2, 3, 4, and 5th toes were dysplastic.

Her skull radiographs showed unusual ossification of the mastoids, wormian bones, and paranasal bossing. The overall clinical and radiographic phenotypes in our patients are to certain extent expanding the clinical spectrum in the OPD II syndrome. The specific missense mutation encountered appears not to have been reported before but is located in the calponin homology domain 2 CH2 and affects an Aspartic Acid residue conserved in all three filamin paralogs in humans and is not reported in controls of different variant databases Exome Variant Server;dbSNP.

We thank L. Read article at publisher's site DOI : To arrive at the top five similar articles we use a word-weighted algorithm to compare words from the Title and Abstract of each citation. Clin Genet , 45 3 , 01 Mar Cited by: 8 articles PMID: Genet Couns , 6 3 , 01 Jan Cited by: 6 articles PMID: J Hum Genet , 52 4 , 31 Jan Cited by: 7 articles PMID: Stoll C , Alembik Y.

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Abstract We describe additional phenotypic features in a boy and his mother. The mother's radiographs showed wormian bones of the skull, and paranasal bossing, her feet showed bilateral fusion of the cuboid with the lateral cuneiform bone with subsequent development of metatarsus varus associated with dysplastic distal phalanges. Free full text. Clin Case Rep. Published online Aug PMID: Author information Article notes Copyright and License information Disclaimer.

Funding Information No sources of funding were declared for this study. This is an open access article under the terms of the Creative Commons Attribution-NonCommercial License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes. Go to:. Open in a separate window. Figure 1. Figure 2. Figure 3. Figure 4.

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