Genetics for Obstetricians and Gynaecologists – Multiple Choice Questions for Vol. 42
1. A woman presents with a Sertoli Leydig cell tumour of the ovary. She is also at risk of which of the following? a) Adenoma malignum of the cervix b)…
Epithelial Ovarian Cancer – Multiple Choice Answers for Vol. 41
1. a) F b) F c) T d) T e) T The addition of a third agent to platinum-taxane combination therapy has not been shown to improve outcomes in the…
Genetics of gynaecological cancers
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…
Genetics of gynaecological disorders
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…
Obstetric care in women with genetic disorders
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…
Chromosomal mosaicism in the fetoplacental unit
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…
Microarrays in prenatal diagnosis
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…
Book: Genetics for obstetricians and gynaecologists
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…
Noninvasive prenatal testing for fetal aneuploidy and single gene disorders
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…
Genetics of recurrent miscarriage and fetal loss
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…
