지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2020.1
- 수록면
- 330 - 336 (7page)
이용수
초록· 키워드
오류제보하기
Objective22q11.2DS (deletion syndrome) is one of the common serious anomalies resulting in high perinatal morbidity andmortality rate. Nevertheless, prenatal diagnosis of 22q11.2DS in Southeast Asia has never been described and itsprevalence in prenatal series has never been explored. The objective of this study was to describe the experience ofprenatal diagnosis of 22q11.2DS in the Thai population and to determine its prevalence among fetuses prenatallydiagnosed with abnormalities of the great arteries. MethodsA prospective study was conducted on pregnant Thai women prenatally diagnosed with abnormalities of thegreat arteries in the second trimester. The recruited cases were investigated for fetal 22q11.2 deletion by in situhybridization with a probe specific to the DiGeorge/VCFS TUPLE 1 region located on chromosome 22 for the locusD22S75, and 22qter for a telomere specific sequence clone as the control region. ResultsFive out of the 42 (11.9%) fetuses with abnormalities of the great arteries meeting the inclusion criteria were provento have 22q11.2DS. The most common abnormalities were the tetralogy of Fallot (or variants) and right-sided aorticarch, followed by a thymic hypoplasia. ConclusionAs observed in the western countries, we have documented that, among pregnant Thai women, 22q11.2DS is highlyprevalent in fetuses with abnormalities of the great arteries (approximately 12%). This information is important whencounselling couples to undergo prenatal testing for 22q11.2DS, since this information is vital in the patients' decisionof termination or continuation of pregnancy and in a well-prepared management of the affected child.
목차
등록된 정보가 없습니다.
참고문헌 (26)
참고문헌 신청
Bassett AS / 2011 / Practical guidelines for managing patients with 22q11. 2 deletion syndrome / J Pediatr 159:332~339.e1
Besseau-Ayasse J / 2014 / A French collaborative survey of 272 fetuses with 22q11. 2 deletion : ultrasound findings, fetal autopsies and pregnancy outcomes / Prenat Diagn 34:424~430
Noël AC / 2014 / Fetal phenotype associated with the 22q11 deletion / Am J Med Genet A 164A:2724~2731
Schindewolf E / 2018 / Expanding the fetal phenotype : Prenatal sonographic findings and perinatal outcomes in a cohort of patients with a confirmed 22q11. 2 deletion syndrome / Am J Med Genet A 176:1735~1741
Nickel RE / 1996 / Neural tube defects and deletions of 22q11 / Am J Med Genet 66:25~27
Besseau-Ayasse J / 2014 / A French collaborative survey of 272 fetuses with 22q11. 2 deletion : ultrasound findings, fetal autopsies and pregnancy outcomes / Prenat Diagn 34:424~430
Noël AC / 2014 / Fetal phenotype associated with the 22q11 deletion / Am J Med Genet A 164A:2724~2731
Schindewolf E / 2018 / Expanding the fetal phenotype : Prenatal sonographic findings and perinatal outcomes in a cohort of patients with a confirmed 22q11. 2 deletion syndrome / Am J Med Genet A 176:1735~1741
Nickel RE / 1996 / Neural tube defects and deletions of 22q11 / Am J Med Genet 66:25~27
함께 읽어보면 좋을 논문
논문 유사도에 따라 DBpia 가 추천하는 논문입니다. 함께 보면 좋을 연관 논문을 확인해보세요!
-
Prenatal diagnosis of 5p deletion syndrome: A case series report
Journal of genetic medicine
2017 .01
-
Korean physicians' attitudes toward the prenatal screening for fetal aneuploidy and implementation of non-invasive prenatal testing with cell-free fetal DNA
Journal of genetic medicine
2018 .01
-
Prenatal diagnosis of 4p deletion syndrome: A case series report
Journal of genetic medicine
2017 .01
-
결혼이주여성의 임신·출산 지원서비스 이용 및 서비스 요구도 관련 요인
보건의료산업학회지
2017 .01
-
Various Psychiatric Manifestation in DiGeorge Syndrome (22q11.2 Deletion Syndrome): A Case Report
Clinical Psychopharmacology and Neuroscience
2020 .01
-
Pregnancy, Prenatal Care, and Delivery of Mothers with Disabilities in Korea
Journal of Korean Medical Science
2015 .01
-
Nanostructures in non-invasive prenatal genetic screening
Biomedical Engineering Letters (BMEL)
2022 .02
-
산전초음파 선별검사
대한의사협회지
2015 .01
-
Developing a community-based, multicultural-friendly prenatal education pilot program
지역사회간호학회지
2024 .09
-
Prenatal ultrasonography of craniofacial abnormalities
ULTRASONOGRAPHY
2019 .01
-
Second-hand smoke exposure during pregnancy intensifies the harmful effect of prenatal cadmium exposure on birth weight
환경독성보건학회 심포지엄 및 학술대회
2015 .10
-
Long-term prenatal stress increases susceptibility of N-methyl-D-aspartic acid-induced spasms in infant rats
Clinical and Experimental Pediatrics
2018 .01
-
Advantages of the single nucleotide polymorphism-based noninvasive prenatal test
Journal of genetic medicine
2015 .01
-
Effect of environmental Prenatal Education Program on Pregnant Women’s Environmental Health Behaviors in Korea
성인간호학회 학술대회
2021 .08
-
The clinical usefulness of non-invasive prenatal testing in pregnancies with abnormal ultrasound findings
Journal of genetic medicine
2018 .01
-
DiGeorge syndrome who developed lymphoproliferative mediastinal mass
Clinical and Experimental Pediatrics
2015 .01
-
The Importance of Multidisciplinary Management during Prenatal Care for Cleft Lip and Palate
Archives of plastic surgery : APS
2016 .01
-
고위험 임신의 외래 산전진찰시 고려사항
Perinatology
2023 .06
-
Utilization and Content Evaluation of Mobile Applications for Pregnancy, Birth, and Child Care
Healthcare Informatics Research
2016 .01
이 논문의 저자 정보
최근 본 자료
댓글(0)
0