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Best Practice & Research. Clinical Obstetrics & Gynaecology

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https://www.readbyqxmd.com/read/28919160/polycystic-ovary-syndrome-in-adolescents
#1
REVIEW
Stephanie S Rothenberg, Rachel Beverley, Emily Barnard, Massoud Baradaran-Shoraka, Joseph S Sanfilippo
Polycystic ovary syndrome (PCOS) typically manifests with a combination of menstrual dysfunction and evidence of hyperandrogenism in the adolescent population. No single cause has been identified; however, evidence suggests a complex interplay between genetic and environmental factors. Polycystic ovary syndrome presents a particular diagnostic challenge in adolescents as normal pubertal changes can present with a similar phenotype. Management of PCOS in the adolescent population should focus on a multi-modal approach with lifestyle modification and pharmacologic treatment to address bothersome symptoms...
September 1, 2017: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28919159/host-control-of-human-papillomavirus-infection-and-disease
#2
REVIEW
John Doorbar
Most human papillomaviruses cause inapparent infections, subtly affecting epithelial homeostasis, to ensure genome persistence in the epithelial basal layer. As with conspicuous papillomas, these self-limiting lesions shed viral particles to ensure population level maintenance and depend on a balance between viral gene expression, immune cell stimulation and immune surveillance for persistence. The complex immune evasion strategies, characteristic of high-risk HPV types, also allow the deregulated viral gene expression that underlies neoplasia...
August 12, 2017: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28918099/role-of-hpv-dna-testing-in-modern-gynaecological-practice
#3
REVIEW
Guglielmo Ronco, Paolo Giorgi Rossi
The identification of some types of human papillomavirus (HPV) as necessary, but not sufficient, cause of cervical cancer has suggested the use of HPV testing in cervical cancer prevention. A large number of studies has provided evidence supporting its application (1) as primary screening test, (2) for triaging borderline cytology, (3) for follow-up after positive primary test but no abnormal histology and (4) as a test of cure. They also allowed a reasonably good definition of the appropriate policies and protocols, leading to the delivery of evidence-based guidelines resulting from a systematic review of the literature...
August 12, 2017: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28838829/childhood-and-adolescent-obesity-definitions-as-related-to-bmi-evaluation-and-management-options
#4
REVIEW
Nichole Tyson, Madelyn Frank
In North America, 30% of children are overweight or obese. Child obesity is a precursor to adult health risks. Diagnosis of childhood obesity is difficult. The best measurement is BMI percentile charts. Obesity in children and adolescents can be treated by diet and activity changes. Family involvement in healthy lifestyle changes is best for weight loss and prevention.
August 12, 2017: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28867655/cosmetic-genital-surgery-in-children-and-adolescents
#5
REVIEW
Paul L Wood
Clinicians are faced with increasing requests for female cosmetic genital surgery and prominent amongst these is labiaplasty. The implications of labiaplasty in adolescence are explored with emphasis on what is known about normal genital appearances, pubertal development, anatomy and physiology and the options for surgical intervention including risks and implications. Faced with what is known to date on female cosmetic genital surgery then such interventions should be avoided in adolescence in the absence of defined medical indications until at least the age of 18 years...
August 11, 2017: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28844405/genetic-and-epigenetic-risks-of-assisted-reproduction
#6
REVIEW
Ziru Jiang, Yinyu Wang, Jing Lin, Jingjing Xu, Guolian Ding, Hefeng Huang
Assisted reproductive technology (ART) is used primarily for infertility treatments to achieve pregnancy and involves procedures such as in vitro fertilization (IVF), intracytoplasmic sperm injection (ICSI), and cryopreservation. Moreover, preimplantation genetic diagnosis (PGD) of ART is used in couples for genetic reasons. In ART treatments, gametes and zygotes are exposed to a series of non-physiological processes and culture media. Although the majority of children born with this treatment are healthy, some concerns remain regarding the safety of this technology...
August 3, 2017: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28684328/genetics-of-gynaecological-disorders
#7
REVIEW
Dragana J Josifova
From genomic imbalances associated with developmental abnormalities of the female genital tract to the molecular mechanisms underpinning endometriosis and uterine leiomyomatosis, new technologies have allowed the exploration of the genetic contribution and mapping the molecular pathways underpinning common and rare gynaecological conditions. While some of these conditions have historically been considered sporadic, recent research has demonstrated their potentially heritable nature linked to single genes or copy number variants...
July 2017: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28533154/preconception-and-prenatal-genetic-counselling
#8
REVIEW
Adonis S Ioannides
Identifying individuals at risk of having children affected by genetic conditions or congenital anomalies allows counselling that aims to inform reproductive decisions. This process takes place either at the preconception or early prenatal stage, although more options are available if risks are identified before the pregnancy. Preconception counselling covers issues that can affect the health of the mother and baby including folic acid supplementation. Carrier screening for autosomal recessive diseases, such as beta thalassaemia, has resulted in a significantly reduced incidence in many countries...
July 2017: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28533152/preface-volume-42-genetics-for-obstetricians-and-gynaecologists
#9
EDITORIAL
Adonis S Ioannides
No abstract text is available yet for this article.
July 2017: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28456373/book-genetics-for-obstetricians-and-gynaecologists-chapter-genetic-markers-on-ultrasound-scan
#10
REVIEW
Janani Sivanathan, Basky Thilaganathan
Prenatal diagnosis is a rapidly evolving speciality. Screening for aneuploidy begins with non-sonographic features of background risk of maternal age and past and family history. It is possible to diagnose major structural defects in the foetus using second trimester scans. Serum biochemistry markers in the early second trimester were added to increase the detection rate of aneuploidy. However, as some of these abnormalities were amenable to detection earlier in the first trimester, newer modalities were introduced...
July 2017: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28412101/genetics-of-recurrent-miscarriage-and-fetal-loss
#11
REVIEW
M H Tur-Torres, C Garrido-Gimenez, J Alijotas-Reig
Despite years of research, miscarriage, particularly when recurrent, continues to pose a medical challenge. An embryo chromosomal error is responsible for 50-60% of recurrent cases; however, up to 30-50% remains an enigma. Successful pregnancy involves different maternal physiologic changes and certain complex interactions between the fetus and the mother by cytokines, angiogenic mediators and hormones. To date, research lines have focused on genetic and epigenetic polymorphisms related mainly to immune response and inflammatory mediators, and have yielded a significant relationship between recurrent miscarriage and immune mechanisms...
July 2017: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28392223/obstetric-care-in-women-with-genetic-disorders
#12
REVIEW
Shilpa Chetty, Mary E Norton
The management of pregnant women who are themselves affected with genetic diseases is an increasingly relevant and important issue. Improvements in early diagnosis and management of genetic disease, as well as advances in assisted reproductive technology have impacted pregnancy rates in a cohort of women who may not have otherwise been able to conceive. A multidisciplinary approach is key to the management of pregnant women with complex health conditions, including genetic diseases. Pertinent issues should be addressed in the preconception, antepartum, intrapartum and postpartum periods to optimize maternal and fetal health...
July 2017: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28342726/noninvasive-prenatal-testing-for-fetal-aneuploidy-and-single-gene-disorders
#13
REVIEW
Hannah Skrzypek, Lisa Hui
Our concept of nucleic acid biology has advanced dramatically over the past two decades, with a growing appreciation that cell-free DNA (cfDNA) fragments are present in all body fluids including plasma. In no other field has plasma DNA been as rapidly translated into clinical practice as in noninvasive prenatal testing (NIPT) for fetal chromosome abnormalities. NIPT is a screening test that requires confirmation with diagnostic testing, but other applications of cfDNA provide diagnostic information and do not require invasive testing...
July 2017: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28284509/chromosomal-mosaicism-in-the-fetoplacental-unit
#14
REVIEW
Francesca Romana Grati, Francesca Malvestiti, Lara Branca, Cristina Agrati, Federico Maggi, Giuseppe Simoni
Cytogenetic prenatal diagnosis on chorionic villi (CV) can be complicated by the detection of "chromosomal mosaicism." This is one of the main issues of first-trimester cytogenetic prenatal diagnosis as it can involve different types of chromosomal abnormalities, and the prediction of the fetal involvement is challenging because the detected abnormal mosaic cell line is not necessarily extended to fetal tissues. In addition, because the cell-free fetal DNA that is targeted by the new technologies for fetal aneuploidy risk assessment is mainly derived from the CV cells, the same challenges related to chromosomal mosaicism can be transferred into this new clinical field...
July 2017: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28215395/microarrays-in-prenatal-diagnosis
#15
REVIEW
Beatrice Oneda, Anita Rauch
In prenatal diagnosis, chromosomal microarray (CMA) has not yet fully replaced conventional karyotyping but has rapidly become the recommended test in pregnancies with ultrasound abnormalities. In this review, we provide an overview of the published data concerning this technology and the controversies concerning its use in the prenatal setting. There is abundant evidence indicating the added detection of pathogenic abnormalities with CMA in comparison to the traditional karyotyping, especially in fetuses with multiple or isolated ultrasound abnormalities such as congenital heart disease, increased nuchal translucency, or oral cleft...
July 2017: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28202331/genetics-of-gynaecological-cancers
#16
REVIEW
Panayiotis Constantinou, Marc Tischkowitz
Gynaecological cancers accounted for 16.3% of all cancers and 13.9% of all cancer deaths in women globally in 2012. Cancer of the cervix is the most common gynaecological cancer, followed by cancers of the uterus and the ovary. Although cervical cancer is almost exclusively triggered by human papilloma virus infection, approximately 5% of all uterine cancers and 20% of all ovarian cancers are caused by germline mutations in cancer predisposition genes. A number of genetic syndromes are associated with rarer gynaecological tumours...
July 2017: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28655494/preface-volume-43
#17
EDITORIAL
Frank A Chervenak, Laurence B McCullough
No abstract text is available yet for this article.
June 20, 2017: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28694057/planned-home-birth
#18
REVIEW
James Johnston Walker
With increasing medical advances and the ability to rescue the mother and her baby, there has been a growth in the number of women who deliver in hospital facilities. This allows full care to be provided if required [1]. Maternal and perinatal mortality has fallen accordingly. This improvement in mother and baby outcomes has produced a conception of maternity safety in the developed world and a call for the return to home birth. This has concerned the obstetricians and particularly the paediatricians who feel that this produces unacceptable risk to the mother and her baby...
June 19, 2017: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28687174/pre-implantation-hla-matching-the-production-of-a-saviour-child
#19
REVIEW
Georgia Kakourou, Christina Vrettou, Maria Moutafi, Joanne Traeger-Synodinos
Pre-implantation genetic diagnosis (PGD) requires the use of assisted reproductive technology (ART) to create several pre-implantation-stage embryos, followed by biopsy of embryonic cells for genetic testing and transfer of selected embryos to the womb to establish a pregnancy. HLA typing of ART-created embryos was first reported in 2001. The aim is to establish a pregnancy that is HLA-compatible with an affected sibling who requires haematopoietic stem cell transplantation. HLA-typing can be performed with or without PGD for the exclusion of a single-gene disorder...
June 16, 2017: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28602522/role-of-robotic-surgery-in-ovarian-malignancy
#20
REVIEW
A Lucidi, V Chiantera, V Gallotta, A Ercoli, G Scambia, A Fagotti
As part of minimally invasive surgery, robotic-assisted approach is becoming increasingly popular in gynecologic oncology. It has been shown to be effective and feasible for staging and treating endometrial and cervical cancer, but its role in the context of primary and recurrent ovarian cancers is presently debated. Scanty data are available in the literature, and the level of evidence supporting its use in ovarian cancer is quite low. However, from a retrospective case-control series, robotic surgery seems to be safe and feasible for early-stage ovarian cancer...
May 10, 2017: Best Practice & Research. Clinical Obstetrics & Gynaecology
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