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Prenatal genetic

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https://www.readbyqxmd.com/read/29141311/-study-on-mosaicism-of-scn1a-gene-mutation-in-parents-of-children-with-dravet-syndrome
#1
A J Liu, X X Yang, X J Xu, Q X Wu, X J Tian, X L Yang, X R Wu, L P Wei, Y H Zhang
Objective: To investigate the clinical phenotypes and the mutant allele proportion of parents with SCN1A gene mutation mosaicism of Dravet syndrome (DS) children, thus to provide guidance for family reproduction and prenatal diagnosis. Method: The clinical data and peripheral blood DNA samples of DS patients with a SCN1A gene mutation proved by Sanger sequencing were collected prospectively from February 2005 to November 2016 in Department of Pediatrics, Peking University First Hospital. The same mutation was searched in parents and other available relatives...
November 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29137034/uniparental-disomy-and-prenatal-phenotype-two-case-reports-and-review
#2
Xiaofei Li, Yan Liu, Song Yue, Li Wang, Tiejuan Zhang, Cuixia Guo, Wenjie Hu, Karl-Oliver Kagan, Qingqing Wu
RATIONALE: Uniparental disomy (UPD) gives a description of the inheritance of both homologues of a chromosome pair from the same parent. The consequences of UPD depend on the specific chromosome/segment involved and its parental origin. PATIENT CONCERNS: We report prenatal phenotypes of 2 rare cases of UPD. DIAGNOSES: The prenatal phenotype of case 1 included sonographic markers such as enlarged nuchal translucency (NT), absent nasal bone, short femur and humerus length, and several structural malformations involving Dandy-Walker malformation and congenital heart defects...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29132462/-familial-male-limited-precocious-puberty-due-to-asp578his-mutations-in-the-lhcgr-gene-clinical-characteristics-and-gene-analysis-in-an-infant
#3
Min Wang, Min Li, Yue-Sheng Liu, Si-Min Lei, Yan-Feng Xiao
The aim of the study was to provide a descriptive analysis of familial male-limited precocious puberty (FMPP), which is a rare inherited disease caused by heterozygous constitutively activating mutations of the luteinizing hormone/choriogonadotropin receptor gene (LHCGR). The patient was a ten-month-old boy, presenting with penile enlargement, pubic hair formation, and spontaneous erections. Based on the clinical manifestations and laboratory data, including sexual characteristics, serum testosterone levels, GnRH stimulation test, and bone age, this boy was diagnosed with peripheral precocious puberty...
November 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/29132460/-genetic-diagnosis-of-10-neonates-with-primary-carnitine-deficiency
#4
Jian-Qiang Tan, Da-Yu Chen, Zhe-Tao Li, Ti-Zhen Yan, Ji-Wei Huang, Ren Cai
OBJECTIVE: To study the gene mutation profile of primary carnitine deficiency (PCD) in neonates, and to provide a theoretical basis for early diagnosis and treatment, genetic counseling, and prenatal diagnosis of PCD. METHODS: Acylcarnitine profile analysis was performed by tandem mass spectrometry using 34 167 dry blood spots on filter paper. The SLC22A5 gene was sequenced and analyzed in neonates with free carnitine (C0) levels lower than 10 μmol/L as well as their parents...
November 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/29131922/prenatal-and-postnatal-genetic-testing-why-how-and-when
#5
Joan M Stoler
There have been major advances in genetic testing especially over the last 10 years. We have advanced from looking at simple chromosomes under a microscope to more sophisticated analysis of the DNA makeup of chromosomes and from testing a single gene to sequencing almost all of our genetic material. Similarly, in the field of prenatal testing we have made great strides in screening and diagnostic testing in the hope of detecting significant abnormalities in the fetus while decreasing the risk to the pregnancy...
November 1, 2017: Pediatric Annals
https://www.readbyqxmd.com/read/29129749/quantitative-proteomic-analysis-of-deciduous-molars-during-cap-to-bell-transition-in-miniature-pig
#6
Yang Li, Yiyi Gong, Xiaoshan Wu, Fu Wang, Yilin Xie, Zhao Zhu, Yingying Su, Jinsong Wang, Chunmei Zhang, Junqi He, Haiteng Deng, Songlin Wang
Taking advantage of genetic manipulation tools and accessibility, almost all molecular knowledge on vertebrate tooth development was obtained from rodent models that only have one dentition in their entire lives. Whether the tooth development in other vertebrates such as swine or human follows the same rules remains elusive. Rodent dentitions differ considerably from human dentitions, therefore limiting the application of knowledge from rodent tooth to human tooth. Signal-mediated communication between cells and complex gene and protein regulatory networks are key components of tooth development...
November 9, 2017: Journal of Proteomics
https://www.readbyqxmd.com/read/29125674/women-s-preference-for-non-invasive-prenatal-dna-testing-nipt-versus-chromosomal-microarray-after-screening-for-down-syndrome-a-prospective-study
#7
Yvonne Kwun Yue Cheng, Wing Cheong Leung, Tak Yeung Leung, Kwong Wai Choy, Rossa Wai Kwun Chiu, Tsz-Kin Lo, Ka Yin Kwok, Daljit Singh Sahota
OBJECTIVE: To examine preference for follow-up test in women screened high or intermediate risk in 1(st) or 2(nd) trimester Down syndrome screening. DESIGN: Prospective cohort study. SETTING: Three public hospitals in Hong Kong, China. SAMPLE: Women with term high risk ≥ 1:250 (HR) or intermediate risk 1:251-1:1200 (IR). METHODS: Women screened high risk were asked to decide among 1) an invasive test plus chromosomal microarray (CMA) to obtain more detailed fetal genetic information, 2) a non-invasive cell free prenatal DNA screening (NIPT) to detect trisomies 13, 18 and 21 to avoid procedure related miscarriage, and 3) decline further testing...
November 10, 2017: BJOG: An International Journal of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/29124982/pre-gestational-thalassemia-screening-in-mainland-china-the-first-two-years-of-a-preventive-program
#8
Fan Jiang, Gui-Lan Chen, Jian Li, Xing-Mei Xie, Jian-Ying Zhou, Can Liao, Dong-Zhi Li
In this study, we report the experience of a pre gestational thalassemia screening program at a single center in Southern China. Free thalassemia screening, genetic counseling and prenatal diagnosis (PND) for couples planning pregnancy were implemented over a 2-year period. Among a total of 83,062 screened individuals (41,531 couples), the allele frequencies of β-thalassemia (β-thal), - -(SEA) and - -(THAI) deletions were 3.79, 5.75 and 0.028%, respectively. Out of the 41,531 couples, 11,039 couples had at least one partner who had a positive screening test; of these, 455 at-risk couples (1...
November 10, 2017: Hemoglobin
https://www.readbyqxmd.com/read/29123545/identification-and-characterization-of-micrornas-in-the-goat-capra-hircus-rumen-during-embryonic-development
#9
Tao Zhong, Jiangtao Hu, Ping Xiao, Siyuan Zhan, Linjie Wang, Jiazhong Guo, Li Li, Hongping Zhang, Lili Niu
The rumen is an important digestive organ in ruminants. Numerous regulatory factors including microRNAs (miRNAs) are involved in embryonic organ development. In the present study, miRNAs expressed in the rumens of goats (Capra hircus) and their potential roles in the pathways involved in rumen development were identified using high-throughput sequencing. Histological morphology revealed a distinct difference in each layer of rumen during the period from embryonic day 60 (E60) to embryonic day 135 (E135). We determined the expression profiles of miRNAs in the goat rumen, and identified 423 known miRNAs and 559 potentially novel miRNAs in the E60 and E135 embryonic rumen, respectively...
2017: Frontiers in Genetics
https://www.readbyqxmd.com/read/29121877/a-systematic-survey-to-identify-lethal-recessive-variation-in-highly-managed-pig-populations
#10
Martijn F L Derks, Hendrik-Jan Megens, Mirte Bosse, Marcos S Lopes, Barbara Harlizius, Martien A M Groenen
BACKGROUND: Lethal recessive variation can cause prenatal death of homozygous offspring. Although usually present at low-frequency in populations, the impact on individual fitness can be substantial. Until recently, the presence of recessive embryonic lethal variation could only be measured indirectly through reduced fertility. In this study, we estimate the presence of genetic loci associated with both early and late termination of development during gestation in pigs from the wealth of genome data routinely generated by a commercial breeding company...
November 9, 2017: BMC Genomics
https://www.readbyqxmd.com/read/29121006/origin-and-clinical-relevance-of-chromosomal-aberrations-other-than-the-common-trisomies-detected-by-genome-wide-nips-results-of-the-trident-study
#11
Diane Van Opstal, Merel C van Maarle, Klaske Lichtenbelt, Marjan M Weiss, Heleen Schuring-Blom, Shama L Bhola, Mariette J V Hoffer, Karin Huijsdens-van Amsterdam, Merryn V Macville, Angelique J A Kooper, Brigitte H W Faas, Lutgarde Govaerts, Gita M Tan-Sindhunata, Nicolette den Hollander, Ilse Feenstra, Robert-Jan H Galjaard, Dick Oepkes, Stijn Ghesquiere, Rutger W W Brouwer, Lean Beulen, Sander Bollen, Martin G Elferink, Roy Straver, Lidewij Henneman, Godelieve C Page-Christiaens, Erik A Sistermans
PurposeNoninvasive prenatal screening (NIPS) using cell-free DNA in maternal blood is highly sensitive for detecting fetal trisomies 21, 18, and 13. Using a genome-wide approach, other chromosome anomalies can also be detected. We report on the origin, frequency, and clinical significance of these other chromosome aberrations found in pregnancies at risk for trisomy 21, 18, or 13.MethodsWhole-genome shallow massively parallel sequencing was used and all autosomes were analyzed.ResultsIn 78 of 2,527 cases (3...
October 2, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29120460/prenatal-reflex-dna-screening-for-trisomies-21-18-and-13
#12
Nicholas J Wald, Wayne J Huttly, Jonathan P Bestwick, Robert Old, Joan K Morris, Ray Cheng, Joe Aquilina, Elisabeth Peregrine, Devender Roberts, Zarko Alfirevic
PurposeThe purpose of the study was to determine the screening performance of prenatal reflex DNA screening for trisomies 21 (T21), 18 (T18), and 13 (T13) as part of a routine service at five hospitals.MethodsWomen who accepted screening had a first-trimester combined test (pregnancy-associated plasma protein A, free β-human chorionic gonadotropin, nuchal translucency interpreted with maternal age). Those with a risk of having an affected pregnancy ≥1 in 800 were reflexed to a DNA sequencing test using stored plasma from the original blood sample, thereby avoiding the need to recall them...
November 9, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29120459/informative-priors-on-fetal-fraction-increase-power-of-the-noninvasive-prenatal-screen
#13
Hanli Xu, Shaowei Wang, Lin-Lin Ma, Shuai Huang, Lin Liang, Qian Liu, Yang-Yang Liu, Ke-Di Liu, Ze-Min Tan, Hao Ban, Yongtao Guan, Zuhong Lu
PurposeNoninvasive prenatal screening (NIPS) sequences a mixture of the maternal and fetal cell-free DNA. Fetal trisomy can be detected by examining chromosomal dosages estimated from sequencing reads. The traditional method uses the Z-test, which compares a subject against a set of euploid controls, where the information of fetal fraction is not fully utilized. Here we present a Bayesian method that leverages informative priors on the fetal fraction.MethodOur Bayesian method combines the Z-test likelihood and informative priors of the fetal fraction, which are learned from the sex chromosomes, to compute Bayes factors...
November 9, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29118296/mismatch-between-fetal-sexing-and-birth-phenotype-a%C3%A2-case-of-complete-androgen-insensitivity-syndrome
#14
Keisuke Yoshii, Yasuhiro Naiki, Yumiko Terada, Maki Fukami, Reiko Horikawa
With advancing maternal age, the number of prenatal genetic tests is increasing in many countries. Prenatal genetic tests, such as amniocentesis, chorionic villus sampling and non-invasive prenatal testing, can disclose fetal chromosomal sex, although these tests were originally designed to prenatally diagnose chromosomal aneuploidies, such as trisomy 21, 18 and 13. Complete androgen insensitivity syndrome (CAIS) is an X-linked recessive disorder caused by an androgen receptor dysfunction leading to hormone resistance...
November 9, 2017: Endocrine Journal
https://www.readbyqxmd.com/read/29115496/prenatal-diagnosis-and-genetic-counseling%C3%A2-for-waardenburg-syndrome-type%C3%A2-i-and-ii-in-chinese-families
#15
Li Wang, Litao Qin, Tao Li, Hongjian Liu, Lingcao Ma, Wan Li, Dong Wu, Hongdan Wang, Qiannan Guo, Liangjie Guo, Shixiu Liao
Waardenburg syndrome (WS) is an auditory‑pigmentary disorder with varying combinations of sensorineural hearing loss and abnormal pigmentation. The present study aimed to investigate the underlying molecular pathology and provide a method of prenatal diagnosis of WS in Chinese families. A total of 11 patients with WS from five unrelated Chinese families were enrolled. A thorough clinical examination was performed on all participants. Furthermore, patients with WS underwent screening for mutations in the following genes: Paired box 3 (PAX3), melanogenesis associated transcription factor (MITF), SRY‑box 10, snail family transcriptional repressor 2 and endothelin receptor type B using polymerase chain reaction sequencing...
October 25, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/29108167/testimony-in-support-of-indiana-senate-bill-334-a-bill-to-prohibit-prenatal-discrimination-by-prohibiting-abortion-based-on-sex-selection-or-genetic-abnormality
#16
https://www.readbyqxmd.com/read/29105741/epidemiology-of-huntington-disease-in-cyprus-a-20-year-retrospective-study
#17
C A Demetriou, A Heraclides, C Salafori, G A Tanteles, K Christodoulou, Y Christou, E Zamba-Papanicolaou
Huntington disease (HD) is most prevalent among populations of western European descent and isolated populations where founder effects may operate. The aim of this study was to examine the epidemiology of HD in Cyprus, an island in southern Europe with extensive western European colonization in the past. All registered HD patients in the Cyprus Republic, since 1994, were included. Detailed pedigrees and clinical information were recorded and maps, showing the geographic distribution of HD, were constructed...
November 6, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/29105298/prenatal-cocaine-exposure-disrupts-the-dopaminergic-system-and-its-postnatal-responses-to-cocaine
#18
Elizabeth Riley, Valerie Maymi, Stephanie Pawlyszyn, Yu Lili, Irina V Zhdanova
Impaired attention is the hallmark consequence of prenatal cocaine exposure (PCE), affecting brain development, learning, memory and social adaptation starting at an early age. To date, little is known about the brain structures and neurochemical processes involved in this effect. Through focusing on the visual system and employing zebrafish as a model, we show that PCE reduces expression of dopamine receptor Drd1, with levels reduced in the optic tectum and other brain regions, except the telencephalon. Organism-wide, PCE results in a 1...
November 3, 2017: Genes, Brain, and Behavior
https://www.readbyqxmd.com/read/29105053/conversations-with-french-medical-geneticists-a-personal-perspective-on-the-origins-and-early-years-of-medical-genetics-in-france
#19
REVIEW
P S Harper
The history of the beginnings of medical genetics in France is discussed, based on the personal perspective provided by recorded interviews with 16 early French workers in the field. The weakness of French genetics overall up to the beginning of the Second World War meant that post-war medical genetics had to start from new, with its origins largely derived from the medical fields of child health and the prevention of genetic disorders, rather than from basic science. The key people responsible for initiating these developments were Robert Debré and Maurice Lamy at Hôpital Necker in Paris and those interviewed included a number of their colleagues and successors, including Jean Frézal, Pierre Maroteaux, Josué Feingold, André and Joelle Boué, and Jean-Claude Kaplan...
November 3, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/29101864/decision-making-about-prenatal-genetic-testing-among-pregnant-korean-american-women
#20
Myunghee Jun, Vipavee Thongpriwan, Jeeyae Choi, Kyung Sook Choi, Gwen Anderson
OBJECTIVE: to understand the prenatal genetic testing decision-making processes among pregnant Korean-American women. DESIGN: a qualitative, descriptive research design. PARTICIPANTS: referrals and snowball sampling techniques were used to recruit 10 Korean-American women who had been recommended for amniocentesis during pregnancy in the United States (U.S.). All participants were born in Korea and had immigrated to the U.S. The number of years living in the U...
October 6, 2017: Midwifery
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