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Prenatal genetic diagnosis

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https://www.readbyqxmd.com/read/28440418/two-novel-mutations-in-ercc6-cause-cockayne-syndrome-b-in-a-chinese-family
#1
Chunxia He, Mao Sun, Guoxia Wang, Ying Yang, Libo Yao, Yuanming Wu
Cockayne syndrome (CS) is a rare autosomal recessive disorder characterized principally by progressive growth failure, neurologic abnormality and premature aging. Mutations of excision repair cross‑complementation group 6 (ERCC6) and ERCC8 are predominantly responsible for CS, of which mutation of ERCC6 accounts for approximately two thirds of cases. The current report describes two siblings with severe neurologic abnormality and premature aging. Whole exome sequencing identified two novel mutations in ERCC6 that had not been previously reported...
April 20, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28439323/caudal-regression-syndrome-a-case-series-of-a-rare-congenital-anomaly
#2
Yogesh Kumar, Nishant Gupta, Kusum Hooda, Pranav Sharma, Salil Sharma, Puneet Kochar, Daichi Hayashi
BACKGROUND: Caudal regression syndrome is a rare, neural tube defect characterized by an abnormal development of the caudal aspect of the vertebral column and the spinal cord., It results in neurological deficits ranging from bladder and bowel involvement to severe sensory and motor deficits in the lower limbs. Maternal diabetes, genetic factors and some teratogens have been shown to be associated with its pathogenesis. Caudal regression syndrome is usually diagnosed initially by antenatal ultrasound with more definitive diagnosis made by antenatal or postnatal MRI...
2017: Polish Journal of Radiology
https://www.readbyqxmd.com/read/28437855/mild-fetal-cerebral-ventriculomegaly-prevalence-characteristics-and-utility-of-ancillary-testing-in-cases-presenting-to-a-tertiary-referral-center
#3
Alison J Mehlhorn, Cara E Morin, Jade J Wong-You-Cheong, Stephen A Contag
OBJECTIVE: Ventriculomegaly is the most common fetal brain anomaly identified during prenatal anatomy ultrasound. The aim of our study was to characterize cases of mild ventriculomegaly and investigate the utility of ancillary tests. METHOD: We reviewed 121 cases of mild ventriculomegaly, defined as lateral ventricle diameter of 10-15 mm. Characteristics of the ventricular dilation as well as each pregnancy were investigated. Ancillary tests performed included follow-up MRI, chromosomal abnormality testing, and maternal serologic infection screening...
April 24, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28437579/mosaic-trisomy-1q-a-recurring-chromosome-anomaly-that-is-a-diagnostic-challenge-and-is-associated-with-a-fryns-like-phenotype
#4
Kathleen M Bone, Judy E Chernos, Renee Perrier, A Micheil Innes, Francois P Bernier, Ross McLeod, Mary Ann Thomas
OBJECTIVE: Trisomy of the long arm of chromosome 1 is a very rare cytogenetic anomaly that is difficult to diagnose due to tissue-limited mosaicism. This study aimed to further characterize the prenatal and postnatal findings associated with this anomaly, including the first reported chromosomal microarray finding. METHOD: This is a retrospective study of 6 cases of mos 46,X,der(Y)t(Y;1)(q12;q21)/46,XY diagnosed both pre- and postnatally. Detailed clinical features and pregnancy outcome were documented...
April 24, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28420901/discrepancy-between-non-invasive-prenatal-genetic-testing-nipt-and-amniotic-chromosomal-test-due-to-placental-mosaicism-a-case-report-and-literature-review
#5
Kei Hayata, Yuji Hiramatsu, Hisashi Masuyama, Eriko Eto, Takashi Mitsui, Shoko Tamada
We experienced a case of advanced maternal age in which a fetus was found to be positive for trisomy 18 at re-examination following indeterminate non-invasive prenatal genetic testing (NIPT), the amniotic fluid chromosomal test revealed a normal karyotype, and confined placental mosaicism (CPM) was observed in an SNP microarray analysis of the placenta. The child was born with no defects or complications. In the present case, the result of the original NIPT at week 15 of pregnancy was indeterminate and the subsequent re-examination result was positive; since the definitive normal diagnosis was not reported until the latter half of week 21, the pregnant patient was subjected to psychological stress for a long period of time...
April 2017: Acta Medica Okayama
https://www.readbyqxmd.com/read/28420511/prenatal-diagnosis-and-molecular-cytogenetic-characterization-of-concomitant-familial-small-supernumerary-marker-chromosome-derived-from-chromosome-4q-4q11-1-q13-2-and-5q13-2-microdeletion-with-no-apparent-phenotypic-abnormality
#6
Chih-Ping Chen, Schu-Rern Chern, Yen-Ni Chen, Shin-Wen Chen, Peih-Shan Wu, Chien-Wen Yang, Chen-Chi Lee, Meng-Shan Lee, Chen-Wen Pan, Wayseen Wang
OBJECTIVE: We present prenatal diagnosis and molecular cytogenetic characterization of concomitant familial small supernumerary marker chromosome 4 [sSMC(4)] derived from 4q11.1-q12 and q13.2, and 5q13.2 microdeletion with no apparent phenotypic abnormality. MATERIALS AND METHODS: A 32-year-old woman underwent amniocentesis at 21 weeks of gestation because of absent nasal bone on fetal ultrasound. Amniocentesis revealed a karyotype of 47,XX,+mar[13]/46,XX[3]. Array comparative genomic hybridization analysis on the cultured amniocytes revealed a 2...
April 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28417514/enlarged-cavum-septi-pellucidi-and-vergae-in-the-fetus-a-cause-for-concern
#7
Yoona K Ho, Michelle Turley, Krishelle L Marc-Aurele, Marilyn C Jones, Elise Housman, Dawn Engelkemier, Lorene E Romine, Paritosh C Khanna, Dolores H Pretorius
OBJECTIVES: To investigate fetal cases identified at our institution to determine whether an enlarged cavum septi pellucidi or cavum vergae is associated with other fetal abnormalities and whether its presence warrants more detailed investigation of the fetus. METHODS: In a retrospective study, 15 high- and low-risk patients undergoing prenatal sonography who had an enlarged cavum septi pellucidi or cavum vergae identified were reviewed. Data were collected for the sonographic study indication, gestation age at diagnosis of a prominent cavum, and associated anomalies...
April 18, 2017: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/28407396/a-further-family-of-stromme-syndrome-carrying-cenpf-mutation
#8
Ferda Ozkinay, Tahir Atik, Esra Isik, Zeliha Gormez, Mahmut Sagiroglu, Ozlem Atan Sahin, Nergul Corduk, Huseyin Onay
Stromme syndrome is a rare genetic disorder characterized by microcephaly, anterior ocular chamber anomalies, and "apple peel" type jejunal atresia. Here, we report a Stromme syndrome family with two affected siblings with a homozygous truncating frameshift mutation in CENPF. A 3-month-old girl was hospitalized due to prenatally diagnosed microcephaly, microphthalmia, and dysmorphological features. The history of a previous child with the same findings in addition to "apple peel" intestinal atresia had been noted...
April 13, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28401070/simple-and-easy-to-perform-preimplantation-genetic-diagnosis-for-%C3%AE-thalassemia-major-using-combination-of-conventional-and-fluorescent-polymerase-chain-reaction
#9
Rasoul Salehi, Sharifeh Khosravi, Mansour Salehi, Majid Kheirollahi, Hossein Khanahmad
BACKGROUND: Thalassemias are the most common monogenic disorders in many countries throughout the world. The best practice to control the prevalence of the disease is prenatal diagnosis (PND) services. Extensive practicing of PND proved effective in reducing new cases but on the other side of this success high abortion rate is hided, which ethically unfair and for many couples, especially with a previous experience of a therapeutic abortion, or moral concerns, is not a suitable choice...
2017: Advanced Biomedical Research
https://www.readbyqxmd.com/read/28397838/mapping-autosomal-recessive-intellectual-disability-combined-microarray-and-exome-sequencing-identifies-26-novel-candidate-genes-in-192-consanguineous-families
#10
R Harripaul, N Vasli, A Mikhailov, M A Rafiq, K Mittal, C Windpassinger, T I Sheikh, A Noor, H Mahmood, S Downey, M Johnson, K Vleuten, L Bell, M Ilyas, F S Khan, V Khan, M Moradi, M Ayaz, F Naeem, A Heidari, I Ahmed, S Ghadami, Z Agha, S Zeinali, R Qamar, H Mozhdehipanah, P John, A Mir, M Ansar, L French, M Ayub, J B Vincent
Approximately 1% of the global population is affected by intellectual disability (ID), and the majority receive no molecular diagnosis. Previous studies have indicated high levels of genetic heterogeneity, with estimates of more than 2500 autosomal ID genes, the majority of which are autosomal recessive (AR). Here, we combined microarray genotyping, homozygosity-by-descent (HBD) mapping, copy number variation (CNV) analysis, and whole exome sequencing (WES) to identify disease genes/mutations in 192 multiplex Pakistani and Iranian consanguineous families with non-syndromic ID...
April 11, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28397548/pre-natal-diagnosis-of-thalassaemia-in-sri-lanka-a-ten-year-review
#11
Kalinga Khemal Nanayakkara, Undugodage Ganganath Rodrigo, Kuda Liyanage Nandika Perera, Chinthani Deepthi Nanayakkara
Thalassaemia is the commonest monogenic disease in Sri Lanka, affecting over 3500 children and half-a-million thalassaemia carriers. This is a review of 82 amniocenteses performed from 2006 to 2016, in the largest prenatal diagnoses study for thalassaemia carried out in Sri Lanka. Amniocenteses were performed between 11 and 12 weeks of ultrasonically confirmed gestation, on mothers with previous thalassaemia major children pregnant for the second time and nulliparous thalassaemia trait women married to trait partners...
April 11, 2017: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/28397227/-prenatal-diagnosis-and-follow-up-of-a-case-with-lowe-syndrome-caused-by-interstitial-deletion-of-xq25-26
#12
Xiangyu Zhu, Jie Li, Tong Ru, Ruifang Zhu, Chenyan Dai, Wanjun Wang, Yali Hu
OBJECTIVE: To report on a sporadic case of Lowe syndrome diagnosed prenatally with ultrasound examination and genetic testing. METHODS: Detailed sonographic fetal screening was performed by an experienced sonographer at 32 weeks of gestation. Fetal cranial magnetic resonance imaging (MRI) was applied to detect potential brain abnormality. Chromosomal microarray analysis (CMA) was conducted on amniotic fluid sample from the fetus and peripheral blood sample from the mother...
April 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28397225/-clinical-features-and-genetic-analysis-of-a-case-with-carnitine-palmitoyltransferase-1a-deficiency
#13
Dong Cui, Yuhui Hu, Dan Shen, Gen Tang, Min Zhang, Jing Duan, Pengqiang Wen, Jianxiang Liao, Dongli Ma, Shuli Chen
OBJECTIVE: To analyze the clinical and molecular features of a child with carnitine palmitoyltransferase 1A (CPT1A) deficiency. METHODS: Clinical data of the child was collected. Blood acylcarnitine was determined with tandem mass spectrometry. DNA was extracted from the child and his parents. All exons and flanking regions of the CPT1A gene were analyzed by PCR and Sanger sequencing. RESULTS: Analysis showed that the patient carried compound heterozygous mutations c...
April 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28397220/-mutation-analysis-for-a-chinese-family-affected-with-escobar-syndrome-by-whole-exome-sequencing
#14
Lin Hu, Huanzheng Li, Zhaotang Luan, Xueqin Xu, Chong Chen, Ke Wu, Shaohua Tang
OBJECTIVE: To carry out mutation analysis for a Chinese family affected with Escobar syndrome. METHODS: Whole exome sequencing (WES) was employed to detect potential mutation in the proband. Suspected mutations were validated by combining clinical data and result of Sanger sequencing. RESULTS: A homozygous missense mutation c.715C>T (p.R239C) was detected in the proband and his brother who was also affected. The parents and the daughters of the proband carried the heterozygous mutation c...
April 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28397213/-analysis-of-genome-wide-copy-number-variations-among-fetuses-with-abnormalities-detected-by-prenatal-ultrasouography
#15
Ke Wu, Shaohua Tang, Chong Chen, Huanzheng Li, Lili Zhou, Jianxin Lyu
OBJECTIVE: To explore the genetic etiology of fetal abnormalities detected by prenatal ultrasound through single nucleotide polymorphism (SNP array) analysis. METHODS: Two hundred and eight fetuses were tested with SNP array and conventional karyotyping. Complex copy number variations (CNVs) were verified with fluorescence in situ hybridization (FISH), multiplex ligation-dependent probe amplification (MLPA) and quantitative fluorescence polymerase chain reaction (QF-PCR)...
April 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28397212/-application-of-single-nucleotide-polymorphism-array-for-the-identification-of-pathogenic-copy-number-variations-in-fetuses-with-malformations-and-women-with-an-adverse-reproductive-history
#16
Jing Liu, Hui Xi, Hua Wang, Zhenjun Jia, Yuchun Zhou, Lingqian Wu
OBJECTIVE: To apply single nucleotide polymorphism microarray (SNP array) for the detection of genome-wide copy number variations(CNVs) in fetuses with malformations and women with an adverse reproductive history, and to explore the correlation of rare CNVs with the clinical manifestations. METHODS: Amniotic fluid and umbilical cord blood samples were collected from 314 women with singleton pregnancy. SNP array was performed on samples where chromosomal abnormalities were excluded after G-banding analysis...
April 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28397151/identification-of-novel-atp7a-mutations-and-prenatal-diagnosis-in-chinese-patients-with-menkes-disease
#17
Binbin Cao, Xiaoping Yang, Yinyin Chen, Qionghui Huang, Ye Wu, Qiang Gu, Jiangxi Xiao, Huixia Yang, Hong Pan, Junya Chen, Yu Sun, Li Ren, Chengfeng Zhao, Yanhua Deng, Yanling Yang, Xingzhi Chang, Zhixian Yang, Yuehua Zhang, Zhengping Niu, Juli Wang, Xiru Wu, Jingmin Wang, Yuwu Jiang
Menkes disease (MD) is a fatal X-linked multisystem disease caused by mutations in ATP7A. In this study, clinical and genetic analysis was performed in 24 male MD patients. Development delay, seizures, kinky coarse hair, and dystonia were found in 24, 22, 24, and 24 patients, respectively. Serum ceruloplasmin/copper tested in 19 patients was low. Abnormal classic features of MD presented in the MRI/MRA of 19 patients. Seventeen mutations of ATP7A were identified in 22 patients. Twelve were novel mutations including three small deletion/insertion, one missense mutation, two nonsense mutations, three splicing-site mutations, and three gross deletions...
April 10, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28392734/proficiency-testing-of-maternal-serum-prenatal-screening-in-second-trimester-in-china-2015
#18
Xiaoyan Zhang, Wei Wang, Falin He, Kun Zhong, Shuai Yuan, Zhiguo Wang
INTRODUCTION: Prenatal screening and diagnosis is important for the detection of birth defects and genetic diseases. The nationwide proficiency testing (PT) of maternal serum prenatal screening in second trimester in China has been launched since 2003 and partly reflected the performance of screening laboratories. This study analysed the 2015 PT results to examine the performance of clinical laboratories and different platforms. MATERIALS AND METHODS: Fifteen lyophilized samples with different concentrations divided into three panels, were distributed to 613 clinical laboratories in 2015...
February 15, 2017: Biochemia Medica: časopis Hrvatskoga Društva Medicinskih Biokemičara
https://www.readbyqxmd.com/read/28392223/obstetric-care-in-women-with-genetic-disorders
#19
REVIEW
Shilpa Chetty, Mary E Norton
The management of pregnant women who are themselves affected with genetic diseases is an increasingly relevant and important issue. Improvements in early diagnosis and management of genetic disease, as well as advances in assisted reproductive technology have impacted pregnancy rates in a cohort of women who may not have otherwise been able to conceive. A multidisciplinary approach is key to the management of pregnant women with complex health conditions, including genetic diseases. Pertinent issues should be addressed in the preconception, antepartum, intrapartum and postpartum periods to optimize maternal and fetal health...
March 18, 2017: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28385057/a-comprehensive-molecular-investigation-of-%C3%AE-thalassemia-in-an-iranian-cohort-from-different-provinces-of-north-iran
#20
Hajar Eftekhari, Ahmad Tamaddoni, Hassan Mahmoudi Nesheli, Mohsen Vakili, Sadegh Sedaghat, Ali Banihashemi, Mandana Azizi, Reza Youssefi Kamangar, Haleh Akhavan-Niaki
α-Thalassemia (α-thal) is the most common monogenic disease that is caused by the absence or reduced expression of α-globin genes. The aim of this study was to investigate common α-globin mutations and their associated haplotypes in four northern provinces of Iran (Gilan, Mazandaran, Golestan, Khorasan). One thousand, one hundred and ninety-one persons were tested for α-thal mutations by gap-polymerase chain reaction (PCR), reverse dot-blot hybridization, restriction fragment length polymorphism (RFLP) analysis and sequencing...
April 7, 2017: Hemoglobin
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