The International Federation of Gynecology and Obstetrics (FIGO) initiative on pre-eclampsia: A pragmatic guide for first-trimester screening and prevention
Publication in refereed journal


The family with sequence similarity 175 member A gene (FAM175A; also known as ABRAXAS1, CCDC98 and ABRA1), a member of the DNA repair family, contributes to the BRCA1 (BRCA1 DNA repair associated)-dependent DNA damage response and is associated with age at natural menopause. However, it remains poorly understood whether sequence variants in FAM175A are causative for premature ovarian insufficiency (POI). The aim of this study was to investigate whether mutations in the gene FAM175A were present in patients with POI.

A total of 400 women with idiopathic POI and 498 control women with regular menstruation (306 age-matched women and 192 women over 40 years old) were recruited. After Sanger sequencing of FAM175A, functional experiments were carried out to explore the deleterious effects of the identified variation. DNA damage was subsequently induced by mitomycin C (MMC), and DNA repair capacity and G2-M checkpoint activation were evaluated by examining the phosphorylation level of H2AX (H2A histone family, member X) and the percentage of mitotic cells, respectively.

One rare single-nucleotide polymorphism, rs755187051 in gene FAM175A, c.C727G (p.L243V), was identified in two patients but absent in the 498 controls. The functional experiments demonstrated that overexpression of variant p.L243V in HeLa cells resulted in a similar sensitivity to MMC-induced damage compared with cells transfected with wild-type FAM175A. Moreover, after treatment with MMC, there were no differences in DNA repair capacity and G2-M checkpoint activation between the mutant and wild-type genes.

Our results suggest that the p.L243V variant of FAM175A may not be causative for POI. The contribution of FAM175A to POI needs further exploration.
著者Poon LC, Shennan A, Hyett JA, Kapur A, Hadar E, Divakar H, McAuliffe F, Costa FD, von Dadelszen P, McIntyre HD, Kihara AB, Di Renzo GC, Romero R, D'Alton M, Berghella V, Nicolaides KH, Hod M
期刊名稱International Journal of Gynecology and Obstetrics
詳細描述The Erratum to this article has been published in International Journal of Gynecology and Obstetrics 2019 146(3):390-391 - "The International Journal of Gynecology and Obstetrics regrets that, in the above article, an error appeared in the 5.3.4 Measurement of uterine artery pulsatility index section on page 17, 5th paragraph, second last sentence:

The first‐trimester abnormal UTPI is defined as less than the 90th percentile, achieving a detection rate of 48%, at 8% false‐positive rate, for the identification of early‐onset PE.

should have been:

The first‐trimester abnormal UTPI is defined as greater than the 90th percentile, achieving a detection rate of 48%, at 8% false‐positive rate, for the identification of early‐onset PE.

Affiliation of the author, Mary D'Alton has been corrected to the following:

Obstetrician and Gynecologist in‐Chief, Columbia University Irving Medical Center, NewYork‐Presbyterian

The online version is corrected with the above changes after first online publication.

The authors would like to replace the paragraph in Universal Screening under the Executive Summary on page 6 with the following:

Universal Screening: All pregnant women should be screened for preterm PE during early pregnancy in the first trimester with maternal risk factors and blood pressure. Biomarkers offer a potential for early diagnosis and effective treatment; however, the global community recognizes that further evidence for their applicability in all populations and ethnic groups is required at this stage. While several studies have evaluated the role of biomarkers or a combination of physical and chemical measurements, further studies are needed to define their additional role in improving early prediction of preterm PE. FIGO encourages all countries and its member associations to adopt and promote strategies to ensure quality research and eventual consensus. Global consensus regarding specific parameters can be impacted both by population characteristics and resource settings. Current research is investigating mean arterial pressure (MAP), serum placental growth factor (PLGF), uterine artery pulsatility index (UTPI) and pregnancy‐associated plasma protein A (PAPP‐A).

The above correction was identified and added on 28 October 2019, after the first publication of this erratum.

We apologize for the inconvenience caused."
期次Suppl. 1
出版社Wiley: 12 months
頁次1 - 33
Web of Science 學科類別Obstetrics & Gynecology;Obstetrics & Gynecology

上次更新時間 2021-23-02 於 01:28