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Best Practice & Research. Clinical Obstetrics & Gynaecology

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https://www.readbyqxmd.com/read/28655494/preface-volume-43
#1
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
#2
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
#3
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/28684328/genetics-of-gynaecological-disorders
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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/28602522/role-of-robotic-surgery-in-ovarian-malignancy
#14
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
https://www.readbyqxmd.com/read/28601348/genetic-diagnostics-of-male-infertility-in-clinical-practice
#15
REVIEW
Ryan Flannigan, Peter N Schlegel
Approximately 15% of couples are infertile. Male factors contribute to infertility in over 50% of cases. Identifiable genetic abnormalities contribute to 15%-20% of the most severe forms of male infertility, azoospermia. In this chapter, we explore known genetic causes of male infertility such as Klinefelter syndrome, XYY men, Kallmann syndrome, y-microdeletions, Robertsonian translocations, autosomal inversions, mixed gonadal dysgenesis, x-linked and autosomal gene mutations, and cystic fibrosis transmembrane conductance regulator abnormalities...
May 10, 2017: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28566135/how-to-set-up-a-robotic-assisted-laparoscopic-surgery-center-and-training-of-staff
#16
REVIEW
John P Lenihan
The use of computers to assist surgeons in the operating room has been an inevitable evolution in the modern practice of surgery. Robotic-assisted surgery has been evolving now for over two decades and has finally matured into a technology that has caused a monumental shift in the way gynecologic surgeries are performed. Prior to robotics, the only minimally invasive options for most Gynecologic (GYN) procedures including hysterectomies were either vaginal or laparoscopic approaches. However, even with over 100 years of vaginal surgery experience and more than 20 years of laparoscopic advancements, most gynecologic surgeries in the United States were still performed through an open incision...
May 10, 2017: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28576390/genetic-basis-of-eugonadal-and-hypogonadal-female-reproductive-disorders
#17
REVIEW
Tatiana Trofimova, Daria Lizneva, Larisa Suturina, Walidah Walker, Yen-Hao Chen, Ricardo Azziz, Lawrence C Layman
This review discusses the current state of our understanding regarding the genetic basis of the most important reproductive disorders in women. For clarity, these disorders have been divided into eugonadal and hypogonadal types. Hypogonadal disorders have been further subdivided according to serum gonadotropin levels. Our review focuses on historical and recent data regarding the genetics of the hypothalamic-pituitary-gonadal axis dysfunction, as well as the development and etiology of eugonadal disorders including leiomyomata, endometriosis, spontaneous ovarian hyperstimulation syndrome, polycystic ovarian syndrome, mullerian aplasia, and steroid hormone resistance syndromes...
May 9, 2017: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28277307/pathology-of-borderline-and-invasive-cancers
#18
REVIEW
Jaime Prat
Epithelial ovarian tumors are heterogeneous neoplasms primarily classified according to cell type. They are further subdivided into benign, borderline, and malignant (carcinomas), and this subdivision is very important as it correlates with behavior. Borderline ovarian tumors show epithelial proliferation higher than that seen in their benign counterparts and variable nuclear atypia; however, in contrast to carcinomas, there is no destructive stromal invasion, and their prognosis is much better. Ovarian carcinomas are the most common ovarian cancers and the most lethal gynecological malignancies...
May 2017: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28262552/preface-volume-41
#19
EDITORIAL
Neville F Hacker
No abstract text is available yet for this article.
May 2017: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28254144/hereditary-ovarian-cancer-and-risk-reduction
#20
REVIEW
Lesley Andrews, David G Mutch
Mutations in BRCA1 and BRCA2 account for hereditary breast and ovarian cancer syndrome in a majority of families and 14% of epithelial ovarian cancer cases. Despite next-generation sequencing, other identified genes (Lynch Syndrome, RAD51C, RAD51D, and BRIP1) account for only a small proportion of cases. The risk of ovarian cancer by age 70 is approximately 40% for BRCA1 and 18% for BRCA2. Most of these cancers are high-grade serous cancers that predominantly arise in the fimbriae of the fallopian tube. Ovarian screening does not improve outcomes, so women at high risk are recommended to undergo risk-reducing salpingo-oophorectomy around the age of 40, followed by hormone replacement therapy (HRT)...
May 2017: Best Practice & Research. Clinical Obstetrics & Gynaecology
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