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Prenatal genetic diagnosis

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https://www.readbyqxmd.com/read/28715041/diagnostic-single-gene-analyses-beyond-sanger-economic-high-throughput-sequencing-of-small-genes-involved-in-congenital-coagulation-and-platelet-disorders
#1
Juliane Najm, Matthias Rath, Winnie Schröder, Ute Felbor
Molecular testing of congenital coagulation and platelet disorders offers confirmation of clinical diagnoses, supports genetic counselling, and enables predictive and prenatal diagnosis. In some cases, genotype-phenotype correlations are important for predicting the clinical course of the disease and adaptation of individualized therapy. Until recently, genotyping has been mainly performed by Sanger sequencing. While next generation sequencing (NGS) enables the parallel analysis of multiple genes, the cost-value ratio of custom-made panels can be unfavorable for analyses of specific small genes...
July 17, 2017: Hämostaseologie
https://www.readbyqxmd.com/read/28711366/-contribution-of-chromosomal-microarray-analysis-by-a-multidisciplinary-prenatal-diagnosis-center
#2
C Bartholmot, E Mousty, F Grosjean, Y Petrov, P Khau Van Kien, J Chiesa, V Letouzey
OBJECTIVE: Chromosomal analysis by array CGH is a cytogenetic technique that has opened its application to prenatal diagnosis in recent years. The main objective of the study was to analyze the contribution for couples using chromosomal analysis by array CGH in a CPDPN. METHODS: A retrospective cohort study was conducted in 2015 in a CPDPN. All the patients with array CGH analysis were included in the study. The analysis indications were CN≥3.5mm, ultrasound signs, intra-uterine growth retardation and fetal deaths...
July 12, 2017: Gynecologie, Obstetrique, Fertilite & Senologie
https://www.readbyqxmd.com/read/28711074/hereditary-renal-diseases
#3
Lakshmi Mehta, Belinda Jim
Hereditary kidney disease comprises approximately 10% of adults and nearly all children who require renal replacement therapy. Technologic advances have improved our ability to perform genetic diagnosis and enhanced our understanding of renal and syndromic diseases. In this article, we review the genetics of renal diseases, including common monogenic diseases such as polycystic kidney disease, Alport syndrome, and Fabry disease, as well as complex disorders such as congenital anomalies of the kidney and urinary tract...
July 2017: Seminars in Nephrology
https://www.readbyqxmd.com/read/28710942/parental-psychopathology-and-offspring-attention-deficit-hyperactivity-disorder-in-a-nationwide-sample
#4
Petteri Joelsson, Roshan Chudal, Jaakko Uotila, Auli Suominen, Dan Sucksdorff, David Gyllenberg, Andre Sourander
OBJECTIVE: To study the associations between a wide range of parental psychiatric disorders and offspring attention-deficit/hyperactivity disorder (ADHD). METHOD: This study is based on a nested case-control design. The association between parental registered psychiatric diagnoses and offspring ADHD was examined adjusting for socioeconomic and prenatal factors. Data was linked from Finnish nationwide registers. The cases (n = 10,409) were all the children born between years 1991 and 2005 in Finland and diagnosed with ADHD by the end of 2011...
July 4, 2017: Journal of Psychiatric Research
https://www.readbyqxmd.com/read/28706735/the-importance-of-copy-number-variation-in-congenital-heart-disease
#5
Gregory Costain, Candice K Silversides, Anne S Bassett
Congenital heart disease (CHD) is the most common class of major malformations in humans. The historical association with large chromosomal abnormalities foreshadowed the role of submicroscopic rare copy number variations (CNVs) as important genetic causes of CHD. Recent studies have provided robust evidence for these structural variants as genome-wide contributors to all forms of CHD, including CHD that appears isolated without extra-cardiac features. Overall, a CNV-related molecular diagnosis can be made in up to one in eight patients with CHD...
September 14, 2016: NPJ Genomic Medicine
https://www.readbyqxmd.com/read/28704707/a-founder-mutation-underlies-a-severe-form-of-phosphoglutamase-3-pgm3-deficiency-in-tunisian-patients
#6
Leila Ben-Khemis, Najla Mekki, Imen Ben-Mustapha, Karen Rouault, Fethi Mellouli, Monia Khemiri, Mohamed Bejaoui, Leila Essaddam, Saayda Ben-Becher, Lamia Boughamoura, Saida Hassayoun, Meriem Ben-Ali, Mohamed-Ridha Barbouche
Phosphoglucomutase 3 (PGM3) protein catalyzes the conversion of N-acetyl-d-glucosamine-6-phosphate (GlcNAc-6-P) to N-acetyl-d-glucosamine-1-phosphate (GlcNAc-1-P), which is required for the synthesis of uridine diphosphate N-acetylglucosamine (UDP-GlcNAc) an important precursor for protein glycosylation. Mutations in PGM3 gene have been recently shown to underlie a new congenital disorder of glycosylation often associated to elevated IgE. Herein, we report twelve PGM3 deficient patients. They belong to three highly consanguineous families, originating from a rural district in the west central Tunisia...
July 10, 2017: Molecular Immunology
https://www.readbyqxmd.com/read/28689883/currarino-syndrome-does-the-presence-of-a-genetic-anomaly-correlate-with-a-more-severe-phenotype-a-multicentre-study
#7
Sara Costanzo, Luigina Spaccini, Luca Pio, Girolamo Mattioli, Calogero Virgone, Patrizia Dall'Igna, Barbara Iacobelli, Alessandro Inserra, Giulia Brisighelli, Anna Maria Fagnani, Ernesto Leva, Giulia Giannotti, Maurizio Cheli, Paolo Frumento, Giovanna Riccipetitoni
BACKGROUND/PURPOSE: Currarino syndrome (CS) phenotype, initially described as the triad of hemisacrum, anorectal malformation (ARM) and presacral mass, can be extremely variable. The triad is often incomplete and 3 main CS phenotypical subtypes have been described: Complete, Mild and Minimal. Various associated malformations are often present. Mutations in the MNX1 gene are the main genetic background of CS, although they are not present in almost half of the cases. Aim of our study is to analyze the distribution of the 3 CS subtypes and the incidence of associated malformations in a large sample of patients and to add information about the role of the genetic testing in guiding the diagnostic and prognostic evaluation of CS patients...
June 24, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28676969/genetic-study-of-the-pah-locus-in-the-iranian-population-familial-gene-mutations-and-minihaplotypes
#8
Masoumeh Razipour, Elaheh Alavinejad, Seyede Zahra Sajedi, Saeed Talebi, Mona Entezam, Neda Mohajer, Golnaz-Ensieh Kazemi-Sefat, Jalal Gharesouran, Aria Setoodeh, Seyyed Mojtaba Mohaddes Ardebili, Mohammad Keramatipour
Phenylketonuria (PKU), one of the most common inborn errors of amino acid metabolism, is caused by mutations in the phenylalanine hydroxylase (PAH) gene (PAH). PKU has wide allelic heterogeneity, and over 600 different disease-causing mutations in PAH have been detected to date. Up to now, there have been no reports on the minihaplotype (VNTR/STR) analysis of PAH locus in the Iranian population. The aims of the present study were to determine PAH mutations and minihaplotypes in Iranian families with PAH deficiency and to investigate the correlation between them...
July 4, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28674770/choosing-between-higher-and-lower-resolution-microarrays-do-pregnant-women-have-sufficient-knowledge-to-make-informed-choices-consistent-with-their-attitude
#9
S L van der Steen, E M Bunnik, M G Polak, K E M Diderich, J Verhagen-Visser, L C P Govaerts, M Joosten, M F C M Knapen, A T J I Go, D Van Opstal, M I Srebniak, R J H Galjaard, A Tibben, S R Riedijk
Developments in prenatal testing allow the detection of more findings. SNP arrays in prenatal diagnosis (PND) can be analyzed at 0.5 Mb resolution detecting more clinically relevant anomalies, or at 5 Mb resolution. We investigated whether women had sufficient knowledge to make informed choices regarding the scope of their prenatal test that were consistent with their attitude. Pregnant women could choose between testing at 5 or at 0.5 Mb array. Consenting women (N = 69) received pre-test genetic counseling by phone and filled out the Measure of Informed Choice questionnaire designed for this study...
July 4, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28670533/mutational-analysis-of-androgen-receptor-gene-in-two-families-with-androgen-insensitivity
#10
Radha Ramadevi Akella
BACKGROUND: Androgen insensitivity syndrome (AIS) is a rare X-linked disorder due to mutations in the androgen receptor (AR) gene causing end-organ resistance to the androgenic hormone. SUBJECTS AND METHODS: Genetic studies were carried out in two families by karyotype and targeted exome sequencing of the AR gene. RESULTS: Two novel missense mutations were identified, p.L822P and p.P392S, in two families with complete androgen insensitivity (CAIS) and partial androgen insensitivity (PAIS), respectively...
July 2017: Indian Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28659150/early-diagnosis-and-care-is-achieved-but-should-be-improved-in-infants-with-prader-willi-syndrome
#11
Céline Bar, Gwenaelle Diene, Catherine Molinas, Eric Bieth, Charlotte Casper, Maithé Tauber
BACKGROUND: PWS is a severe neurodevelopmental genetic disorder now usually diagnosed in the neonatal period from hypotonia and feeding difficulties. Our study analyzed the birth incidence and care of infants with early diagnosis. METHODS: Data were collected on 61 infants with a molecular diagnosis of PWS born in 2012 and 2013 in France. RESULTS: Thirty-eight infants with PWS were born in 2013. The median age at diagnosis was 18 days. Birth incidence calculated for 2013 was 1/21,000 births...
June 28, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28654730/promises-pitfalls-and-practicalities-of-prenatal-whole-exome-sequencing
#12
Sunayna Best, Karen Wou, Neeta Vora, Ignatia B Van den Veyver, Ronald Wapner, Lyn S Chitty
Prenatal genetic diagnosis provides information for pregnancy and perinatal decision-making and management. In several small series, prenatal whole exome sequencing (WES) approaches have identified genetic diagnoses when conventional tests (karyotype and microarray) were not diagnostic. Here, we review published prenatal WES studies and recent conference abstracts. Twenty-nine studies were identified, with diagnostic rates varying between 6.2% and 80%. Differences in inclusion criteria and trio versus singleton approaches to sequencing largely account for the wide range of diagnostic rates...
June 27, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28653809/a-prenatal-diagnosis-of-mosaic-trisomy-5-reveals-a-postnatal-complete-uniparental-disomy-of-chromosome-5-with-multiple-congenital-anomalies
#13
Andrew M Reittinger, Benjamin M Helm, Debra J Boles, Inder K Gadi, Samantha A Schrier Vergano
Mosaic trisomy 5 is a very rare condition in liveborns, with few cases reported in the last four decades. There are some reports of prenatally diagnosed mosaic trisomy 5 resulting in phenotypically normal offspring, suggesting a low level of mosaicism, but there are also reports associated with multiple congenital anomalies, cardiovascular malformations, and intrauterine growth restriction. We report an infant male diagnosed with mosaic trisomy 5 (5/15 cells) via amniocentesis. The patient was subsequently found to have uniparental disomy 5 (UPD5) by postnatal chromosome microarray, but high-resolution chromosome analysis on peripheral blood did not identify trisomy 5...
June 27, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28651360/novel-reproductive-technologies-to-prevent-mitochondrial-disease
#14
Lyndsey Craven, Mao-Xing Tang, Gráinne S Gorman, Petra De Sutter, Björn Heindryckx
BACKGROUND: The use of nuclear transfer (NT) has been proposed as a novel reproductive treatment to overcome the transmission of maternally-inherited mitochondrial DNA (mtDNA) mutations. Pathogenic mutations in mtDNA can cause a wide-spectrum of life-limiting disorders, collectively known as mtDNA disease, for which there are currently few effective treatments and no known cures. The many unique features of mtDNA make genetic counselling challenging for women harbouring pathogenic mtDNA mutations but reproductive options that involve medical intervention are available that will minimize the risk of mtDNA disease in their offspring...
June 23, 2017: Human Reproduction Update
https://www.readbyqxmd.com/read/28650953/de-novo-paternal-fbn1-mutation-detected-in-embryos-before-implantation
#15
Shuling Wang, Ziru Niu, Hui Wang, Minyue Ma, Wei Zhang, Shu Fang Wang, Jun Wang, Hong Yan, Yifan Liu, Na Duan, Xiandong Zhang, Yuanqing Yao
BACKGROUND Marfan syndrome (MFS) is an autosomal dominant disease caused by mutations in the Fibrillin (FBN)1 gene and characterized by disorders in the cardiovascular, skeletal, and visual systems. The diversity of mutations and phenotypic heterogeneity of MFS make prenatal molecular diagnoses difficult. In this study, we used pre-implantation genetic diagnosis (PGD) to identify the pathogenic mutation in a male patient with MFS and to determine whether his offspring would be free of the disease. MATERIAL AND METHODS The history and pedigree of the proband were analyzed...
June 26, 2017: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
https://www.readbyqxmd.com/read/28648921/karyomapping-a-single-centre-s-experience-from-application-of-methodology-to-ongoing-pregnancy-and-live-birth-rates
#16
Jara Ben-Nagi, Dagan Wells, Karen Doye, Kalliopi Loutradi, Holly Exeter, Emily Drew, Samer Alfarawati, Roy Naja, Paul Serhal
This study aimed to determine whether karyomapping can be applied to couples requiring preimplantation genetic diagnosis (PGD) for single gene disorder (SGD) and/or chromosomal rearrangement. 75/82 (91.5%) and 6/82 (7.3%) couples were referred for autosomal SGD and X-linked disease, respectively. One couple (1.2%) was referred for SGD and chromosomal rearrangement. Of 608 embryos, 146 (24%, 95% CI 21-28) day-3 and 462 (76%, 95% CI 72-79) blastocyst biopsies were performed. A total of 81 embryo transfers were performed; 16/81 (20%) were following day-3 embryo biopsy, 65/81 (80%) were following blastocyst biopsy and cryopreserved embryo transfer...
June 15, 2017: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/28648508/iodide-handling-disorders-nis-tpo-tg-iyd
#17
REVIEW
Héctor M Targovnik, Cintia E Citterio, Carina M Rivolta
Iodide Handling Disorders lead to defects of the biosynthesis of thyroid hormones (thyroid dyshormonogenesis, TD) and thereafter congenital hypothyroidism (CH), the most common endocrine disease characterized by low levels of circulating thyroid hormones. The prevalence of CH is 1 in 2000-3000 live births. Prevention of CH is based on prenatal diagnosis, carrier identification, and genetic counseling. In neonates a complete diagnosis of TD should include clinical examination, biochemical thyroid tests, thyroid ultrasound, radioiodine or technetium scintigraphy and perchlorate discharge test (PDT)...
March 2017: Best Practice & Research. Clinical Endocrinology & Metabolism
https://www.readbyqxmd.com/read/28638671/prenatal-diagnosis-of-atrioventricular-block-and-qt-interval-prolongation-by-fetal-magnetocardiography-in-a-fetus-with-trisomy-18-and-scn5a-r1193q-variant
#18
Lisheng Lin, Miho Takahashi-Igari, Yoshiaki Kato, Yoshihiro Nozaki, Mana Obata, Hiromi Hamada, Hitoshi Horigome
We report a case of fetal trisomy 18 with SCN5A R1193Q variant that presented with sinus bradycardia, 2 : 1 atrioventricular block (AVB), and QT interval prolongation. These complex arrhythmias were diagnosed by fetal magnetocardiography combined with ultrasound findings. Advanced AVB and ventricular arrhythmias were confirmed after birth. Genetic testing of the baby revealed a SCN5A R1193Q variant, which we considered could account for the various arrhythmias in this case.
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28636882/foxn1-italian-founder-mutation-in-indian-family-implications-in-prenatal-diagnosis
#19
Akella Radha Rama Devi, Nagesh Narayan Panday, Shaik Mohammad Naushad
The Forkhead box N1 (FOXN1) is a transcriptional factor regulating the development, differentiation and function of thymic epithelial cells; maintaining T-lineage progenitors in bone marrow; promoting terminal differentiation of epithelial cells of hair follicles. Mutation in FOXN1 was reported to cause a rare disorder characterized by rudimentary thymus gland, T-cell immunodeficiency, congenital alopecia and nail dystrophy within an Italian community. This is the first report of FOXN1 p.R255X mutation from India, outside this endogamous Italian community...
June 18, 2017: Gene
https://www.readbyqxmd.com/read/28635337/population-based-genetic-study-of-%C3%AE-thalassemia-mutations-in-mardan-division-khyber-pakhtunkhwa-province-pakistan
#20
Raj Muhammad, Muhammad Shakeel, Shoaib U Rehman, Muhammad A Lodhi
β-Thalassemia (β-thal) is the most prevalent hereditary blood disorder in Pakistan with a carrier rate of 5.0-8.0%. The homozygous affected children require frequent blood transfusions for their survival. This autosomal recessive disease can only be prevented through awareness programs, carrier screening, mutation detection, genetic counseling and prenatal diagnosis (PND). The present study aimed to determine the prevalence of various mutations causing β-thal and also to detect carriers of these mutations in families living in the Mardan Division, Khyber Pakhtunkhwa (KP) Province, Pakistan...
March 2017: Hemoglobin
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