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Tytuł:
Network meta-analysis of randomized controlled trials comparing the effectiveness of different treatments in reducing amniocentesis-associated pain and anxiety.
Autorzy:
Mahmoud AM; Faculty of Medicine, Menoufia University, Yassin Abdelghaffar Street From Gamal Abdelnaser Street, Shebin Al-Kom, Menoufia, Egypt.
Allam AR; Faculty of Medicine, Menoufia University, Yassin Abdelghaffar Street From Gamal Abdelnaser Street, Shebin Al-Kom, Menoufia, Egypt. .
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Źródło:
BMC pregnancy and childbirth [BMC Pregnancy Childbirth] 2023 Nov 21; Vol. 23 (1), pp. 807. Date of Electronic Publication: 2023 Nov 21.
Typ publikacji:
Meta-Analysis; Journal Article
MeSH Terms:
Acetaminophen*/therapeutic use
Amniocentesis*/adverse effects
Pregnancy ; Female ; Humans ; Network Meta-Analysis ; Randomized Controlled Trials as Topic ; Anxiety/etiology ; Anxiety/prevention & control ; Pain/etiology ; Pain/prevention & control
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Complete trisomy 9 detected by noninvasive prenatal testing and confirmed by amniocentesis.
Autorzy:
Huang F; Department of Traditional Chinese Medicine, Hangzhou Women's Hospital, Hangzhou, Zhejiang, China.
Zhou J; Department of gynecology, Obstetrics and Gynecology Hospital of Fudan University, Shanghai, China.
Xu Z; Zhejiang Chinese medical university, Hangzhou, Zhejiang, China.
Qi Q; Department of gynecology, Obstetrics and Gynecology Hospital of Fudan University, Shanghai, China.
Sun H; Department of gynecology, Obstetrics and Gynecology Hospital of Fudan University, Shanghai, China.
Chen L; Ultrasonography Department, Hangzhou Women's Hospital, Hangzhou, Zhejiang, China.
Wang L; Department of gynecology, Obstetrics and Gynecology Hospital of Fudan University, Shanghai, China.
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Źródło:
Drug discoveries & therapeutics [Drug Discov Ther] 2023 Nov 18; Vol. 17 (5), pp. 365-367. Date of Electronic Publication: 2023 Oct 11.
Typ publikacji:
Journal Article
MeSH Terms:
Amniocentesis*
Noninvasive Prenatal Testing*
Female ; Pregnancy ; Humans ; Trisomy/diagnosis ; Trisomy/genetics ; Chromosomes, Human, Pair 9
SCR Disease Name:
Chromosome 9, trisomy
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
The risk factors of procedure-related complications after amniocentesis in twin pregnancies: a retrospective analysis.
Autorzy:
Liu X; Department of Medical Genetics, West China Second University Hospital, Sichuan University, No. 20, Section 3, Renminnan Road, Chengdu, 610041, Sichuan, China.; Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu, 610041, Sichuan, China.; Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, 610041, China.
Wang J; Department of Medical Genetics, West China Second University Hospital, Sichuan University, No. 20, Section 3, Renminnan Road, Chengdu, 610041, Sichuan, China.; Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu, 610041, Sichuan, China.; Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, 610041, China.
Luo W; Department of Medical Genetics, West China Second University Hospital, Sichuan University, No. 20, Section 3, Renminnan Road, Chengdu, 610041, Sichuan, China.; Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu, 610041, Sichuan, China.; Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, 610041, China.
Wang Q; Department of Medical Genetics, West China Second University Hospital, Sichuan University, No. 20, Section 3, Renminnan Road, Chengdu, 610041, Sichuan, China.; Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu, 610041, Sichuan, China.; Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, 610041, China.
Liu Z; Department of Medical Genetics, West China Second University Hospital, Sichuan University, No. 20, Section 3, Renminnan Road, Chengdu, 610041, Sichuan, China.; Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu, 610041, Sichuan, China.; Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, 610041, China.
Wang H; Department of Medical Genetics, West China Second University Hospital, Sichuan University, No. 20, Section 3, Renminnan Road, Chengdu, 610041, Sichuan, China.; Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu, 610041, Sichuan, China.; Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, 610041, China.
Liu S; Department of Medical Genetics, West China Second University Hospital, Sichuan University, No. 20, Section 3, Renminnan Road, Chengdu, 610041, Sichuan, China.; Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu, 610041, Sichuan, China.; Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, 610041, China.
Hu T; Department of Medical Genetics, West China Second University Hospital, Sichuan University, No. 20, Section 3, Renminnan Road, Chengdu, 610041, Sichuan, China. .; Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu, 610041, Sichuan, China. .; Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, 610041, China. .
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Źródło:
BMC pregnancy and childbirth [BMC Pregnancy Childbirth] 2023 Aug 15; Vol. 23 (1), pp. 587. Date of Electronic Publication: 2023 Aug 15.
Typ publikacji:
Journal Article; Twin Study
MeSH Terms:
Abortion, Spontaneous*/epidemiology
Amniocentesis*/adverse effects
Amniocentesis*/methods
Pregnancy Complications*/etiology
Premature Birth*/epidemiology
Premature Birth*/etiology
Female ; Humans ; Infant ; Infant, Newborn ; Pregnancy ; Gestational Age ; Placenta ; Pregnancy Outcome ; Pregnancy, Twin ; Retrospective Studies ; Risk Factors
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Experience in prenatal genetic testing and reproductive decision-making for monogenic disorders from a single tertiary care genetics clinic in a low-middle income country.
Autorzy:
Hanif A; Department of Paediatrics & Child Health, Aga Khan University (AKU) Hospital, Stadium Road, Karachi, Pakistan.
Akbar F; Department of Paediatrics & Child Health, Aga Khan University (AKU) Hospital, Stadium Road, Karachi, Pakistan.
Kirmani S; Department of Paediatrics & Child Health, Aga Khan University (AKU) Hospital, Stadium Road, Karachi, Pakistan.
Jaffarali A; Department of Paediatrics & Child Health, Aga Khan University (AKU) Hospital, Stadium Road, Karachi, Pakistan.
Zainab G; Department of Obstetrics & Gynaecology, Aga Khan University (AKU) Hospital, Karachi, Pakistan.
Malik A; Department of Obstetrics & Gynaecology, Aga Khan University (AKU) Hospital, Karachi, Pakistan.
Ansar Z; Section of Molecular Pathology, Department of Pathology and Laboratory Medicine, Aga Khan University (AKU) Hospital, Karachi, Pakistan.
Afroze B; Department of Paediatrics & Child Health, Aga Khan University (AKU) Hospital, Stadium Road, Karachi, Pakistan. .
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Źródło:
BMC pregnancy and childbirth [BMC Pregnancy Childbirth] 2023 Jun 10; Vol. 23 (1), pp. 431. Date of Electronic Publication: 2023 Jun 10.
Typ publikacji:
Journal Article
MeSH Terms:
Developing Countries*
Amniocentesis*
Pregnancy ; Child ; Female ; Humans ; Infant ; Tertiary Healthcare ; Chorionic Villi Sampling ; Genetic Testing
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Prenatal detection and molecular cytogenetic characterization of Xp deletion and Xq duplication: a case report and literature review.
Autorzy:
Lin Q; Center of Prenatal Diagnosis, Zhanjiang Maternity and Child Health Care Hospital, Zhanjiang, China. .
Liang C; Center of Prenatal Diagnosis, Zhanjiang Maternity and Child Health Care Hospital, Zhanjiang, China.
Du B; Guangzhou Jingke Biotechnology Co., Ltd, Guangzhou, P. R. China.
Li L; Center of Prenatal Diagnosis, Zhanjiang Maternity and Child Health Care Hospital, Zhanjiang, China.
Li H; Guangzhou Jingke Biotechnology Co., Ltd, Guangzhou, P. R. China.
Mai X; Center of Prenatal Diagnosis, Zhanjiang Maternity and Child Health Care Hospital, Zhanjiang, China.
Li S; Guangzhou Jingke Biotechnology Co., Ltd, Guangzhou, P. R. China.
Xu W; Center of Prenatal Diagnosis, Zhanjiang Maternity and Child Health Care Hospital, Zhanjiang, China.
Wu C; Center of Prenatal Diagnosis, Zhanjiang Maternity and Child Health Care Hospital, Zhanjiang, China.
Zeng M; Guangzhou Jingke Biotechnology Co., Ltd, Guangzhou, P. R. China.
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Źródło:
BMC medical genomics [BMC Med Genomics] 2024 Feb 21; Vol. 17 (1), pp. 57. Date of Electronic Publication: 2024 Feb 21.
Typ publikacji:
Review; Case Reports; Journal Article
MeSH Terms:
DNA Copy Number Variations*
Prenatal Diagnosis*
Pregnancy ; Female ; Infant, Newborn ; Humans ; Male ; Adult ; Amniocentesis ; Karyotyping ; Aneuploidy
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Prenatal diagnosis of non-typical Chiari malformation type I associated with de novo Nuclear Factor I A gene mutation: a case report.
Autorzy:
Tomai XH; University of Alberta, Alberta, Canada.; University of Nam Can Tho, Can Tho, Vietnam.
Nguyen HT; University of Medicine and Pharmacy, Ho Chi Minh City, Vietnam. .; University Medical Center, Branch 2, Ho Chi Minh City, Vietnam. .
Nguyen Thi TT; University of Medicine and Pharmacy, Ho Chi Minh City, Vietnam.
Nguyen TA; University of Medicine and Pharmacy, Ho Chi Minh City, Vietnam.; University Medical Center, Branch 2, Ho Chi Minh City, Vietnam.
Nguyen TV; University of Sciences, Ho Chi Minh City, Vietnam.
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Źródło:
Journal of medical case reports [J Med Case Rep] 2024 Feb 13; Vol. 18 (1), pp. 90. Date of Electronic Publication: 2024 Feb 13.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Arnold-Chiari Malformation*/diagnosis
Arnold-Chiari Malformation*/genetics
Male ; Pregnancy ; Female ; Infant, Newborn ; Humans ; Adult ; NFI Transcription Factors/genetics ; Prenatal Diagnosis ; Amniocentesis ; Mutation ; Magnetic Resonance Imaging
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A prenatal case misunderstood as specimen confusion: 46,XY/46,XY chimerism.
Autorzy:
Chen L; Department of Medical Genetics / Prenatal Diagnostic Center, West China Second University Hospital, Sichuan University, Block 3 No. 20, Ren Min Nan Road, Wuhou District, Chengdu, 610041, China.; Key Laboratory of Birth Defects and Related Diseases of Women and Children, Sichuan University, Ministry of Education, Chengdu, 610041, China.
Wang L; Department of Medical Genetics / Prenatal Diagnostic Center, West China Second University Hospital, Sichuan University, Block 3 No. 20, Ren Min Nan Road, Wuhou District, Chengdu, 610041, China.; Key Laboratory of Birth Defects and Related Diseases of Women and Children, Sichuan University, Ministry of Education, Chengdu, 610041, China.
Zeng Y; Department of Medical Genetics / Prenatal Diagnostic Center, West China Second University Hospital, Sichuan University, Block 3 No. 20, Ren Min Nan Road, Wuhou District, Chengdu, 610041, China.; Key Laboratory of Birth Defects and Related Diseases of Women and Children, Sichuan University, Ministry of Education, Chengdu, 610041, China.
Yin D; Department of Medical Genetics / Prenatal Diagnostic Center, West China Second University Hospital, Sichuan University, Block 3 No. 20, Ren Min Nan Road, Wuhou District, Chengdu, 610041, China.; Key Laboratory of Birth Defects and Related Diseases of Women and Children, Sichuan University, Ministry of Education, Chengdu, 610041, China.
Tang F; Department of Medical Genetics / Prenatal Diagnostic Center, West China Second University Hospital, Sichuan University, Block 3 No. 20, Ren Min Nan Road, Wuhou District, Chengdu, 610041, China.; Key Laboratory of Birth Defects and Related Diseases of Women and Children, Sichuan University, Ministry of Education, Chengdu, 610041, China.
Xie D; Department of Medical Genetics / Prenatal Diagnostic Center, West China Second University Hospital, Sichuan University, Block 3 No. 20, Ren Min Nan Road, Wuhou District, Chengdu, 610041, China.; Key Laboratory of Birth Defects and Related Diseases of Women and Children, Sichuan University, Ministry of Education, Chengdu, 610041, China.
Zhu H; Department of Medical Genetics / Prenatal Diagnostic Center, West China Second University Hospital, Sichuan University, Block 3 No. 20, Ren Min Nan Road, Wuhou District, Chengdu, 610041, China.; Key Laboratory of Birth Defects and Related Diseases of Women and Children, Sichuan University, Ministry of Education, Chengdu, 610041, China.
Li L; Department of Medical Genetics / Prenatal Diagnostic Center, West China Second University Hospital, Sichuan University, Block 3 No. 20, Ren Min Nan Road, Wuhou District, Chengdu, 610041, China.; Key Laboratory of Birth Defects and Related Diseases of Women and Children, Sichuan University, Ministry of Education, Chengdu, 610041, China.
Wang J; Department of Medical Genetics / Prenatal Diagnostic Center, West China Second University Hospital, Sichuan University, Block 3 No. 20, Ren Min Nan Road, Wuhou District, Chengdu, 610041, China. hhwj_.; Key Laboratory of Birth Defects and Related Diseases of Women and Children, Sichuan University, Ministry of Education, Chengdu, 610041, China. hhwj_.
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Źródło:
BMC pregnancy and childbirth [BMC Pregnancy Childbirth] 2024 Feb 12; Vol. 24 (1), pp. 126. Date of Electronic Publication: 2024 Feb 12.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Chimerism*
DNA Copy Number Variations*
Female ; Humans ; Infant, Newborn ; Male ; Pregnancy ; Amniocentesis ; Karyotyping ; Phenotype
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Limited ability of increased sequencing depth in detecting cases missed by noninvasive prenatal testing: a comparative analysis of 3 clinical cases.
Autorzy:
Lu Y; Department of Clinical Laboratory, Yulin Women and Children Health Care Hospital, Yulin, 537000, Guangxi Zhuang Autonomous Region, People's Republic of China.
Zuo N; Department of Clinical Laboratory, Yulin Women and Children Health Care Hospital, Yulin, 537000, Guangxi Zhuang Autonomous Region, People's Republic of China.
Ning M; Department of Clinical Laboratory, Yulin Women and Children Health Care Hospital, Yulin, 537000, Guangxi Zhuang Autonomous Region, People's Republic of China.
Xie Y; Department of Clinical Laboratory, Yulin Women and Children Health Care Hospital, Yulin, 537000, Guangxi Zhuang Autonomous Region, People's Republic of China.
Liu W; Department of Obstetrics, Yulin Women and Children Health Care Hospital, Yulin, 537000, Guangxi Zhuang Autonomous Region, People's Republic of China.
Ning S; Department of Clinical Laboratory, Yulin Women and Children Health Care Hospital, Yulin, 537000, Guangxi Zhuang Autonomous Region, People's Republic of China.
Liang Y; Department of Clinical Laboratory, Yulin Women and Children Health Care Hospital, Yulin, 537000, Guangxi Zhuang Autonomous Region, People's Republic of China.
Chen X; Department of Eugenic Genetics, Yulin Women and Children Health Care Hospital, Yulin, 537000, Guangxi Zhuang Autonomous Region, People's Republic of China.
Zhang Y; Department of Eugenic Genetics, Yulin Women and Children Health Care Hospital, Yulin, 537000, Guangxi Zhuang Autonomous Region, People's Republic of China.
Feng J; Department of Child Healthcare, Yulin Women and Children Health Care Hospital, Yulin, 537000, Guangxi Zhuang Autonomous Region, People's Republic of China.
Qin Y; Department of Clinical Laboratory, Yulin Women and Children Health Care Hospital, Yulin, 537000, Guangxi Zhuang Autonomous Region, People's Republic of China. .
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Źródło:
Scientific reports [Sci Rep] 2024 Jan 27; Vol. 14 (1), pp. 2304. Date of Electronic Publication: 2024 Jan 27.
Typ publikacji:
Journal Article
MeSH Terms:
DNA Copy Number Variations*
Noninvasive Prenatal Testing*
Male ; Child ; Pregnancy ; Female ; Humans ; Retrospective Studies ; Aneuploidy ; Amniocentesis ; Prenatal Diagnosis
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Defining the scope of extended NIPS in Western China: evidence from a large cohort of fetuses with normal ultrasound scans.
Autorzy:
Chen, Lin (AUTHOR)
Wang, Li (AUTHOR)
Zeng, Yang (AUTHOR)
Yin, Daishu (AUTHOR)
Tang, Feng (AUTHOR)
Xie, Dan (AUTHOR)
Zhu, Hongmei (AUTHOR)
Liu, Hongqian (AUTHOR)
Wang, Jing (AUTHOR)
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Źródło:
BMC Pregnancy & Childbirth. 8/19/2023, Vol. 23 Issue 1, p1-10. 10p.
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Cytomegalovirus Infection in Pregnancy Prevention and Treatment Options: A Systematic Review and Meta-Analysis.
Autorzy:
Rybak-Krzyszkowska M; Department of Obstetrics, Perinatology University Hospital, 30-551 Kraków, Poland.; Hi-Gen Centrum Medyczne, 30-552 Kraków, Poland.
Górecka J; Department of Obstetrics, Perinatology University Hospital, 30-551 Kraków, Poland.
Huras H; Department of Obstetrics and Perinatology, Jagiellonian University Medical College, 30-551 Kraków, Poland.
Massalska-Wolska M; Clinical Department of Gynecological Endocrinology and Gynecology, University Hospital, 30-551 Kraków, Poland.
Staśkiewicz M; Department of Obstetrics, Perinatology University Hospital, 30-551 Kraków, Poland.
Gach A; Department of Genetics, Polish Mother's Memorial Hospital-Research Institute, 93-338 Łódź, Poland.
Kondracka A; Department of Obstetrics and Pathology of Pregnancy, Medical University of Lublin, 20-081 Lublin, Poland.
Staniczek J; Department of Gynecology, Obstetrics and Gynecological Oncology, Medical University of Silesia, 40-055 Katowice, Poland.
Górczewski W; Obstetrics and Gynecology Ward, Independent Public Health Care Facility 'Bl. Marta Wiecka County Hospital', 32-700 Bochnia, Poland.
Borowski D; Clinic of Obstetrics and Gynecology, Provincial Combined Hospital in Kielce, 25-736 Kielce, Poland.
Jaczyńska R; Department of Obstetrics, Perinatology and Gynecology, Medical University of Warsaw, 02-091 Warsaw, Poland.
Grzesiak M; Department of Perinatology, Obstetrics and Gynecology, Polish Mother's Memorial Hospital-Research Institute, 93-338 Łódź, Poland.; Department of Gynecology and Obstetrics, Medical University of Łódź, 93-338 Łódź, Poland.
Krzeszowski W; Department of Perinatology, Obstetrics and Gynecology, Polish Mother's Memorial Hospital-Research Institute, 93-338 Łódź, Poland.; Salve Medica, 91-210 Lodz, Poland.
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Źródło:
Viruses [Viruses] 2023 Oct 24; Vol. 15 (11). Date of Electronic Publication: 2023 Oct 24.
Typ publikacji:
Meta-Analysis; Systematic Review; Journal Article; Review
MeSH Terms:
Pregnancy Complications, Infectious*/diagnosis
Pregnancy Complications, Infectious*/prevention & control
Cytomegalovirus Infections*/diagnosis
Cytomegalovirus Infections*/drug therapy
Cytomegalovirus Infections*/prevention & control
Pregnancy ; Infant ; Female ; Humans ; Amniocentesis ; Infectious Disease Transmission, Vertical/prevention & control
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Evaluation of the clinical effects of non-invasive prenatal screening for diseases associated with aneuploidy and copy number variation.
Autorzy:
Zhu S; Medical Genetic Centre, Gansu Maternity and Child-Care Hospital, Lanzhou, China.; Gansu Provincial Clinical Research Center for Birth Defects and Rare Diseases, Lanzhou, China.
Jia C; Medical Genetic Centre, Gansu Maternity and Child-Care Hospital, Lanzhou, China.
Hao S; Medical Genetic Centre, Gansu Maternity and Child-Care Hospital, Lanzhou, China.; Gansu Provincial Clinical Research Center for Birth Defects and Rare Diseases, Lanzhou, China.
Zhang Q; Medical Genetic Centre, Gansu Maternity and Child-Care Hospital, Lanzhou, China.; Gansu Provincial Clinical Research Center for Birth Defects and Rare Diseases, Lanzhou, China.
He J; Medical Genetic Centre, Gansu Maternity and Child-Care Hospital, Lanzhou, China.
Wang X; Gansu Provincial Clinical Research Center for Birth Defects and Rare Diseases, Lanzhou, China.
Lin P; Gansu Provincial Clinical Research Center for Birth Defects and Rare Diseases, Lanzhou, China.
Guo Y; Gansu Provincial Clinical Research Center for Birth Defects and Rare Diseases, Lanzhou, China.
Li Y; Gansu Provincial Clinical Research Center for Birth Defects and Rare Diseases, Lanzhou, China.
Feng X; Medical Genetic Centre, Gansu Maternity and Child-Care Hospital, Lanzhou, China.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2023 Sep; Vol. 11 (9), pp. e2200. Date of Electronic Publication: 2023 Jun 24.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
DNA Copy Number Variations*
Aneuploidy*
Female ; Humans ; Pregnancy ; Prospective Studies ; Prenatal Diagnosis/methods ; Amniocentesis
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Mosaic Trisomy 12: Prenatal Diagnosis at Amniocentesis and Molecular Genetic Analysis on Fetal Tissues.
Autorzy:
Bonasoni P; Pathology Unit, Azienda Unità Sanitaria Locale - IRCCS di Reggio Emilia, Reggio Emilia, Italy.
Tonni G; Department of Obstetrics & Gynaecology, Azienda Unità Sanitaria Locale - IRCCS di Reggio Emilia, Reggio Emilia, Italy.
Comitini G; Department of Obstetrics & Gynaecology, Azienda Unità Sanitaria Locale - IRCCS di Reggio Emilia, Reggio Emilia, Italy.
Barbieri V; Medical Genetics Laboratory, Azienda Unità Sanitaria Locale - IRCCS di Reggio Emilia, Reggio Emilia, Italy.
Rinaldini M; Medical Genetics Laboratory, Azienda Unità Sanitaria Locale - IRCCS di Reggio Emilia, Reggio Emilia, Italy.
Marinelli M; Medical Genetics Laboratory, Azienda Unità Sanitaria Locale - IRCCS di Reggio Emilia, Reggio Emilia, Italy.
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Źródło:
Fetal and pediatric pathology [Fetal Pediatr Pathol] 2022 Apr; Vol. 41 (2), pp. 299-305. Date of Electronic Publication: 2020 Jul 01.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Amniocentesis*
Trisomy*/diagnosis
Trisomy*/genetics
Adult ; Female ; Fetus ; Humans ; Molecular Biology ; Mosaicism ; Pregnancy ; Prenatal Diagnosis
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
The application of late amniocentesis: a retrospective study in a tertiary fetal medicine center in China.
Autorzy:
Li Y; Department of Obstetrics and Gynecology, Department of Fetal Medicine and Prenatal Diagnosis, Key Laboratory for Major Obstetric Diseases of Guangdong Province, The Third Affiliated Hospital of Guangzhou Medical University, 63 Duobao Road, Liwan District, Guangzhou, China.
Yan H; Department of Obstetrics and Gynecology, Department of Fetal Medicine and Prenatal Diagnosis, Key Laboratory for Major Obstetric Diseases of Guangdong Province, The Third Affiliated Hospital of Guangzhou Medical University, 63 Duobao Road, Liwan District, Guangzhou, China.
Chen J; Department of Obstetrics and Gynecology, Department of Fetal Medicine and Prenatal Diagnosis, Key Laboratory for Major Obstetric Diseases of Guangdong Province, The Third Affiliated Hospital of Guangzhou Medical University, 63 Duobao Road, Liwan District, Guangzhou, China.
Chen F; Department of Obstetrics and Gynecology, Department of Fetal Medicine and Prenatal Diagnosis, Key Laboratory for Major Obstetric Diseases of Guangdong Province, The Third Affiliated Hospital of Guangzhou Medical University, 63 Duobao Road, Liwan District, Guangzhou, China.
Jian W; Department of Obstetrics and Gynecology, Department of Fetal Medicine and Prenatal Diagnosis, Key Laboratory for Major Obstetric Diseases of Guangdong Province, The Third Affiliated Hospital of Guangzhou Medical University, 63 Duobao Road, Liwan District, Guangzhou, China.
Wang J; Department of Obstetrics and Gynecology, Department of Fetal Medicine and Prenatal Diagnosis, Key Laboratory for Major Obstetric Diseases of Guangdong Province, The Third Affiliated Hospital of Guangzhou Medical University, 63 Duobao Road, Liwan District, Guangzhou, China.
Ye X; Department of Obstetrics and Gynecology, Department of Fetal Medicine and Prenatal Diagnosis, Key Laboratory for Major Obstetric Diseases of Guangdong Province, The Third Affiliated Hospital of Guangzhou Medical University, 63 Duobao Road, Liwan District, Guangzhou, China.
Li Y; Department of Obstetrics and Gynecology, Department of Fetal Medicine and Prenatal Diagnosis, Key Laboratory for Major Obstetric Diseases of Guangdong Province, The Third Affiliated Hospital of Guangzhou Medical University, 63 Duobao Road, Liwan District, Guangzhou, China.
Li N; Department of Obstetrics and Gynecology, Department of Fetal Medicine and Prenatal Diagnosis, Key Laboratory for Major Obstetric Diseases of Guangdong Province, The Third Affiliated Hospital of Guangzhou Medical University, 63 Duobao Road, Liwan District, Guangzhou, China.
Chiu PCN; Department of Obstetrics and Gynecology, the University of Hong Kong, Hong Kong, China.; Shenzhen Key Laboratory of Fertility Regulation, the University of Hong Kong-Shenzhen Hospital, Shenzhen, China.
Chen M; Department of Obstetrics and Gynecology, Department of Fetal Medicine and Prenatal Diagnosis, Key Laboratory for Major Obstetric Diseases of Guangdong Province, The Third Affiliated Hospital of Guangzhou Medical University, 63 Duobao Road, Liwan District, Guangzhou, China. .
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Źródło:
BMC pregnancy and childbirth [BMC Pregnancy Childbirth] 2021 Mar 30; Vol. 21 (1), pp. 266. Date of Electronic Publication: 2021 Mar 30.
Typ publikacji:
Journal Article
MeSH Terms:
Aneuploidy*
Amniocentesis/*statistics & numerical data
Congenital Abnormalities/*diagnosis
Genetic Testing/*statistics & numerical data
Ultrasonography, Prenatal/*statistics & numerical data
Abortion, Eugenic/statistics & numerical data ; Adolescent ; Adult ; Age of Onset ; Amniocentesis/adverse effects ; China/epidemiology ; Congenital Abnormalities/epidemiology ; Congenital Abnormalities/genetics ; Female ; Genetic Counseling ; Humans ; Middle Aged ; Pregnancy ; Reproducibility of Results ; Retrospective Studies ; Tertiary Care Centers ; Time Factors ; Exome Sequencing ; Young Adult
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
New insights on partial trisomy 3q syndrome: de novo 3q27.1-q29 duplication in a newborn with pre and postnatal overgrowth and assisted reproductive conception.
Autorzy:
Serra, Gregorio (AUTHOR)
Antona, Vincenzo (AUTHOR)
Cimador, Marcello (AUTHOR)
Collodoro, Giorgia (AUTHOR)
Guida, Marco (AUTHOR)
Piro, Ettore (AUTHOR)
Schierz, Ingrid Anne Mandy (AUTHOR)
Verde, Vincenzo (AUTHOR)
Giuffrè, Mario (AUTHOR)
Corsello, Giovanni (AUTHOR)
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Źródło:
Italian Journal of Pediatrics. 2/9/2023, Vol. 49 Issue 1, p1-8. 8p.
Czasopismo naukowe
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Tytuł:
Monozygotic twins discordant for homologous Robertsonian translocation trisomy 21 of 46, XX, + 21, der (21;21) (q10; q10) in a twin-to-twin transfusion syndrome, case report.
Autorzy:
Cao D; Department of Obstetrics and Gynecology, Department of Fetal Medicine and Prenatal Diagnosis, Key Laboratory for Major Obstetric Diseases of Guangdong Province, The Third Affiliated Hospital of Guangzhou Medical University, 63 Duobao Road, Liwan District, Guangzhou, 510150, China.
Sun J; Department of Obstetrics and Gynecology, Department of Fetal Medicine and Prenatal Diagnosis, Key Laboratory for Major Obstetric Diseases of Guangdong Province, The Third Affiliated Hospital of Guangzhou Medical University, 63 Duobao Road, Liwan District, Guangzhou, 510150, China.
Li N; Department of Obstetrics and Gynecology, Department of Fetal Medicine and Prenatal Diagnosis, Key Laboratory for Major Obstetric Diseases of Guangdong Province, The Third Affiliated Hospital of Guangzhou Medical University, 63 Duobao Road, Liwan District, Guangzhou, 510150, China.
Li Z; Department of Obstetrics and Gynecology, Department of Fetal Medicine and Prenatal Diagnosis, Key Laboratory for Major Obstetric Diseases of Guangdong Province, The Third Affiliated Hospital of Guangzhou Medical University, 63 Duobao Road, Liwan District, Guangzhou, 510150, China.
Liu W; Department of Obstetrics and Gynecology, Department of Fetal Medicine and Prenatal Diagnosis, Key Laboratory for Major Obstetric Diseases of Guangdong Province, The Third Affiliated Hospital of Guangzhou Medical University, 63 Duobao Road, Liwan District, Guangzhou, 510150, China.
Chen M; Department of Obstetrics and Gynecology, Department of Fetal Medicine and Prenatal Diagnosis, Key Laboratory for Major Obstetric Diseases of Guangdong Province, The Third Affiliated Hospital of Guangzhou Medical University, 63 Duobao Road, Liwan District, Guangzhou, 510150, China. .
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Źródło:
BMC pregnancy and childbirth [BMC Pregnancy Childbirth] 2021 Jan 30; Vol. 21 (1), pp. 101. Date of Electronic Publication: 2021 Jan 30.
Typ publikacji:
Case Reports; Journal Article; Review
MeSH Terms:
Amniocentesis*
Down Syndrome/*genetics
Fetofetal Transfusion/*genetics
Pregnancy, Twin/*genetics
Twins, Monozygotic/*genetics
Adult ; Chromosomes, Human, Pair 21/genetics ; Down Syndrome/diagnosis ; Female ; Fetofetal Transfusion/diagnosis ; Humans ; Infant, Newborn ; Karyotyping ; Nuchal Translucency Measurement ; Oligohydramnios ; Pregnancy ; Pregnancy Reduction, Multifetal ; Ultrasonography, Prenatal
Czasopismo naukowe
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Tytuł:
Prenatal diagnosis of BACs-on-Beads assay in 1520 cases from Fujian Province, China.
Autorzy:
Wang Y; Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Maternity and Child Health Hospital, Affiliated Hospital of Fujian Medical University, Fuzhou, China.
Zhang M; Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Maternity and Child Health Hospital, Affiliated Hospital of Fujian Medical University, Fuzhou, China.
Chen L; Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Maternity and Child Health Hospital, Affiliated Hospital of Fujian Medical University, Fuzhou, China.
Huang H; Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Maternity and Child Health Hospital, Affiliated Hospital of Fujian Medical University, Fuzhou, China.
Xu L; Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Maternity and Child Health Hospital, Affiliated Hospital of Fujian Medical University, Fuzhou, China.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2020 Oct; Vol. 8 (10), pp. e1446. Date of Electronic Publication: 2020 Aug 07.
Typ publikacji:
Evaluation Study; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Amniocentesis/*methods
Chromosome Disorders/*diagnosis
Genetic Testing/*methods
Adult ; Amniocentesis/economics ; Amniocentesis/standards ; Chromosome Aberrations ; Chromosome Disorders/genetics ; Comparative Genomic Hybridization/economics ; Comparative Genomic Hybridization/methods ; Comparative Genomic Hybridization/standards ; Costs and Cost Analysis ; Female ; Genetic Testing/economics ; Genetic Testing/standards ; Humans ; In Situ Hybridization, Fluorescence/economics ; In Situ Hybridization, Fluorescence/methods ; In Situ Hybridization, Fluorescence/standards ; Karyotyping/economics ; Karyotyping/methods ; Karyotyping/standards ; Pregnancy ; Sensitivity and Specificity
Czasopismo naukowe
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Tytuł:
Prenatal diagnosis of a rare β-thalassemia gene －90 (C>T) (HBB: c.-140 C>T) mutation associated with deletional Hb H disease (-- ).
Autorzy:
Qian H; The Medical Genetics & Molecular Diagnosis Laboratory, Shenzhen, China.; Prenatal Diagnosis Center, Shenzhen, China.; Department of Obstetrics, Shenzhen Second People's Hospital/the First Affiliated Hospital of Shenzhen University Health Science Center, Shenzhen, China.
Huang J; The Medical Genetics & Molecular Diagnosis Laboratory, Shenzhen, China.; Prenatal Diagnosis Center, Shenzhen, China.; Department of Obstetrics, Shenzhen Second People's Hospital/the First Affiliated Hospital of Shenzhen University Health Science Center, Shenzhen, China.
Xu J; The Medical Genetics & Molecular Diagnosis Laboratory, Shenzhen, China.; Prenatal Diagnosis Center, Shenzhen, China.; Department of Obstetrics, Shenzhen Second People's Hospital/the First Affiliated Hospital of Shenzhen University Health Science Center, Shenzhen, China.
Zhao W; Prenatal Diagnosis Center, Shenzhen, China.; Department of Obstetrics, Shenzhen Second People's Hospital/the First Affiliated Hospital of Shenzhen University Health Science Center, Shenzhen, China.
Ye X; The Medical Genetics & Molecular Diagnosis Laboratory, Shenzhen, China.; Prenatal Diagnosis Center, Shenzhen, China.; Department of Obstetrics, Shenzhen Second People's Hospital/the First Affiliated Hospital of Shenzhen University Health Science Center, Shenzhen, China.
Liu W; The Medical Genetics & Molecular Diagnosis Laboratory, Shenzhen, China.; Prenatal Diagnosis Center, Shenzhen, China.; Department of Obstetrics, Shenzhen Second People's Hospital/the First Affiliated Hospital of Shenzhen University Health Science Center, Shenzhen, China.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2020 Nov; Vol. 8 (11), pp. e1472. Date of Electronic Publication: 2020 Sep 03.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Amniocentesis*
Genetic Testing*
Hemoglobins, Abnormal/*genetics
alpha-Thalassemia/*genetics
beta-Thalassemia/*genetics
Female ; Humans ; Mutation ; Pregnancy ; Young Adult ; alpha-Thalassemia/diagnosis ; beta-Thalassemia/diagnosis
Czasopismo naukowe
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