Contingent triple-screening for Down syndrome in the second trimester is not a cost-effective prenatal screening strategy in Mainland Chinese population

2010 ◽  
Vol 30 (5) ◽  
pp. 493-493 ◽  
Author(s):  
Dong-Zhi Li
Keyword(s):  
Down Syndrome ◽  
Chinese Population ◽  
Prenatal Screening ◽  
Cost Effective ◽  
Screening Strategy ◽  
Second Trimester ◽  
Mainland Chinese ◽  
Mainland Chinese Population

scholarly journals The role of genetics in Parkinson’s disease: a large cohort study in Chinese mainland population

Brain ◽  
2020 ◽  
Vol 143 (7) ◽  
pp. 2220-2234 ◽  
Author(s):  
Yuwen Zhao ◽  
Lixia Qin ◽  
Hongxu Pan ◽  
Zhenhua Liu ◽  
Li Jiang ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Chinese Population ◽  
Autosomal Recessive ◽  
Age At Onset ◽  
Mainland China ◽  
Mainland Chinese ◽  
Pathogenic Variants ◽  
Disease Associated Genes ◽  
Mainland Chinese Population

Abstract This study aimed to determine the mutational spectrum of familial Parkinson’s disease and sporadic early-onset Parkinson’s disease (sEOPD) in a mainland Chinese population and the clinical features of mutation carriers. We performed multiplex ligation-dependent probe amplification assays and whole-exome sequencing for 1676 unrelated patients with Parkinson’s disease in a mainland Chinese population, including 192 probands from families with autosomal-recessive Parkinson’s disease, 242 probands from families with autosomal-dominant Parkinson’s disease, and 1242 sEOPD patients (age at onset ≤ 50). According to standards and guidelines from the American College of Medical Genetics and Genomics, pathogenic/likely pathogenic variants in 23 known Parkinson’s disease-associated genes occurred more frequently in the autosomal-recessive Parkinson’s disease cohort (65 of 192, 33.85%) than in the autosomal-dominant Parkinson’s disease cohort (10 of 242, 4.13%) and the sEOPD cohort (57 of 1242, 4.59%), which leads to an overall molecular diagnostic yield of 7.88% (132 of 1676). We found that PRKN was the most frequently mutated gene (n = 83, 4.95%) and present the first evidence of an SNCA duplication and LRRK2 p.N1437D variant in mainland China. In addition, several novel pathogenic/likely pathogenic variants including LRRK2 (p.V1447M and p.Y1645S), ATP13A2 (p.R735X and p.A819D), FBXO7 (p.G67E), LRP10 (c.322dupC/p.G109Rfs*51) and TMEM230 (c.429delT/p.P144Qfs*2) were identified in our cohort. Furthermore, the age at onset of the 132 probands with genetic diagnoses (median, 31.5 years) was about 14.5 years earlier than that of patients without molecular diagnoses (i.e. non-carriers, median 46.0 years). Specifically, the age at onset of Parkinson’s disease patients with pathogenic/likely pathogenic variants in ATP13A2, PLA2G6, PRKN, or PINK1 was significantly lower than that of non-carriers, while the age at onset of carriers with other gene pathogenic/likely pathogenic variants was similar to that of non-carriers. The clinical spectrum of Parkinson’s disease-associated gene carriers in this mainland Chinese population was similar to that of other populations. We also detected 61 probands with GBA possibly pathogenic variants (3.64%) and 59 probands with GBA p.L444P (3.52%). These results shed insight into the genetic spectrum and clinical manifestations of Parkinson’s disease in mainland China and expand the existing repertoire of pathogenic or likely pathogenic variants involved in known Parkinson’s disease-associated genes. Our data highlight the importance of genetic testing in Parkinson’s disease patients with age at onset < 40 years, especially in those from families with a recessive inheritance pattern, who may benefit from early diagnosis and treatment.

Prenatal Screening Strategies for Down Syndrome: Many Options but Few Answers

1998 ◽  
Vol 4 (3) ◽  
pp. 229
Author(s):  
Euan M. Wallace
Keyword(s):  
Down Syndrome ◽  
Prenatal Screening ◽  
New South ◽  
South Australia ◽  
Nuchal Translucency ◽  
Second Trimester ◽  
Mental Handicap ◽  
South Wales ◽  
Screening Strategies ◽  
Serum Screening

Down syndrome is the single most common cause of severe mental handicap in Australia. Prenatal screening for Down syndrome is therefore an important component of modern antenatal care. However, while effective second trimester serum screening for Down syndrome has been available in Australia for almost a decade it appears that the majority of Australian women, particularly those outside South Australia and New South Wales, are still not offered it. Newer methods of screening have been recently described and are already being offered in routine clinical practice. These methods, including nuchal translucency, will afford results earlier in pregnancy than second trimester serum screening and so are attractive to women. However, available evidence suggests that nuchal translucency may not perform as well as second trimester serum screening and further evaluation of the newer screening strategies in an Australian population is urgently required. Alteration of practice prior to such an evaluation is simply not warranted at this time.

Effect of smoking status on inhibin-A in second-trimester prenatal screening for Down syndrome

2014 ◽  
Vol 34 (4) ◽  
pp. 406-407
Author(s):  
Wayne Huttly ◽  
Jonathan Bestwick ◽  
Nicholas Wald
Keyword(s):  
Down Syndrome ◽  
Prenatal Screening ◽  
Smoking Status ◽  
Second Trimester ◽  
Inhibin A
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