Makiko Tsutsumi, Reiko Fujiwara, Haruki Nishizawa, Mayuko Ito, Hiroshi Kogo, Hidehito Inagaki, Tamae Ohye, Takema Kato, Takuma Fujii, Hiroki Kurahashi
Age-related decrease of meiotic cohesins in human oocytes.
PLoS One. 2014;9(5):e96710. doi: 10.1371/journal.pone.0096710. Epub 2014 May 7.
Abstract/Text
Aneuploidy in fetal chromosomes is one of the causes of pregnancy loss and of congenital birth defects. It is known that the frequency of oocyte aneuploidy increases with the human maternal age. Recent data have highlighted the contribution of cohesin complexes in the correct segregation of meiotic chromosomes. In mammalian oocytes, cohesion is established during the fetal stages and meiosis-specific cohesin subunits are not replenished after birth, raising the possibility that the long meiotic arrest of oocytes facilitates a deterioration of cohesion that leads to age-related increases in aneuploidy. We here examined the cohesin levels in dictyate oocytes from different age groups of humans and mice by immunofluorescence analyses of ovarian sections. The meiosis-specific cohesin subunits, REC8 and SMC1B, were found to be decreased in women aged 40 and over compared with those aged around 20 years (P<0.01). Age-related decreases in meiotic cohesins were also evident in mice. Interestingly, SMC1A, the mitotic counterpart of SMC1B, was substantially detectable in human oocytes, but little expressed in mice. Further, the amount of mitotic cohesins of mice slightly increased with age. These results suggest that, mitotic and meiotic cohesins may operate in a coordinated way to maintain cohesions over a sustained period in humans and that age-related decreases in meiotic cohesin subunits impair sister chromatid cohesion leading to increased segregation errors.
K H Nicolaides, G Azar, D Byrne, C Mansur, K Marks
Fetal nuchal translucency: ultrasound screening for chromosomal defects in first trimester of pregnancy.
BMJ. 1992 Apr 4;304(6831):867-9.
Abstract/Text
OBJECTIVE: To examine the significance of fetal nuchal translucency at 10-14 weeks' gestation in the prediction of abnormal fetal karyotype.
DESIGN: Prospective screening study.
SETTING: The Harris Birthright Research Centre for Fetal Medicine, King's College Hospital, London.
SUBJECTS: 827 fetuses undergoing first trimester karyotyping by amniocentesis or chorionic villus sampling.
MAIN OUTCOME MEASURE: Incidence of chromosomal defects.
RESULTS: The incidence of chromosomal defects was 3% (28 of 827 cases). In the 51 (6%) fetuses with nuchal translucency 3-8 mm thick the incidence of chromosomal defects was 35% (18 cases). In contrast, only 10 of the remaining 776 (1%) fetuses were chromosomally abnormal.
CONCLUSION: Fetal nuchal translucency > or = 3 mm is a useful first trimester marker for fetal chromosomal abnormalities.
Takako Takano, Michio Akagi, Haruyoshi Takaki, Ryo Inuzuka, Yoshitsugu Nogimori, Hiroshi Ono, Masahide Kaneko, Norifumi Hagiwara
Sex differences in congenital heart disease in Down syndrome: study data from medical records and questionnaires in a region of Japan.
BMJ Paediatr Open. 2019;3(1):e000414. doi: 10.1136/bmjpo-2018-000414. Epub 2019 Jun 26.
Abstract/Text
Reports indicate lower Down syndrome (DS) survival among females than among males in Australia, contrasting with female longevity in the general population. Using data on 1310 people with DS (626 females and 684 males) in Japan from five hospitals' medical records and questionnaires completed by parents of people with DS, we investigated sex differences in congenital heart disease (CHD), which may be related to mortality. The CHD rate was significantly higher for females (354, 57%) than for males (338, 49%; p=0.010). Significantly more females (199, 32%) than males (175, 26%) underwent surgery for CHD (p=0.018).
日本耳科学会、日本耳鼻咽喉科学会編：小児滲出性中耳炎診療ガイドライン2015年版、金原出版、71-75、2015.
森雅亮, 森尾友宏, 伊藤秀一, 森本哲, 太田節雄, 水田耕一, 岩田力, 原寿郎, 佐地勉：免疫不全およびダウン症候群におけるパリビズマブ使用の手引き. 小児リウマチ 2014: 5(1):5-8.
American Academy of Pediatrics. Committee on Genetics
American Academy of Pediatrics: Health supervision for children with Down syndrome.
Pediatrics. 2001 Feb;107(2):442-9.
Abstract/Text
These guidelines are designed to assist the pediatrician in caring for the child in whom the diagnosis of Down syndrome has been confirmed by karyotype. Although the pediatrician's initial contact with the child is usually during infancy, occasionally the pregnant woman who has been given the prenatal diagnosis of Down syndrome will be referred for counseling. Therefore, these guidelines offer advice for this situation as well.
George T Capone, Brian Chicoine, Peter Bulova, Mary Stephens, Sarah Hart, Blythe Crissman, Andrea Videlefsky, Katherine Myers, Nancy Roizen, Anna Esbensen, Moya Peterson, Stephanie Santoro, Jason Woodward, Barry Martin, David Smith, Down Syndrome Medical Interest Group DSMIG-USA Adult Health Care Workgroup
Co-occurring medical conditions in adults with Down syndrome: A systematic review toward the development of health care guidelines.
Am J Med Genet A. 2018 Jan;176(1):116-133. doi: 10.1002/ajmg.a.38512. Epub 2017 Nov 12.
Abstract/Text
Adults with Down syndrome (DS) represent a unique population who are in need of clinical guidelines to address their medical care. The United States Preventive Service Task Force (USPSTF) has developed criteria for prioritizing conditions of public health importance with the potential for providing screening recommendations to improve clinical care. The quality of existing evidence needed to inform clinical guidelines has not been previously reviewed. Using the National Library of Medicine (NLM) database PubMed, we first identified 18 peer reviewed articles that addressed co-occurring medical conditions in adults with DS. Those conditions discussed in over half of the articles were prioritized for further review. Second, we performed detailed literature searches on these specific conditions. To inform the search strategy and review process a series of key questions were formulated a priori. The quality of available evidence was then graded and knowledge gaps were identified. The number of participating adults and the design of clinical studies varied by condition and were often inadequate for answering all of our key questions. We provide data on thyroid disease, cervical spine disease, hearing impairment, overweight-obesity, sleep apnea, congenital heart disease, and osteopenia-osteoporosis. Minimal evidence demonstrates massive gaps in our clinical knowledge that compromises clinical decision-making and management of these medically complex individuals. The development of evidence-based clinical guidance will require an expanded clinical knowledge-base in order to move forward.
© 2017 Wiley Periodicals, Inc.
Marilyn J Bull, Committee on Genetics
Health supervision for children with Down syndrome.
Pediatrics. 2011 Aug;128(2):393-406. doi: 10.1542/peds.2011-1605. Epub 2011 Jul 25.
Abstract/Text
These guidelines are designed to assist the pediatrician in caring for the child in whom a diagnosis of Down syndrome has been confirmed by chromosome analysis. Although a pediatrician's initial contact with the child is usually during infancy, occasionally the pregnant woman who has been given a prenatal diagnosis of Down syndrome will be referred for review of the condition and the genetic counseling provided. Therefore, this report offers guidance for this situation as well.
T Takano, H Takaki, H Kawano, K Nonaka
Early menarche in Japanese Down syndrome.
Pediatrics. 1999 Apr;103(4 Pt 1):854-5.
Abstract/Text
高橋尚人： NIPT新指針に対する日本小児科学会の考えと対応. 周産期医学 2021：51(5):742-746.
