Chromosomal anomalies are associated with considerable morbidity and mortality. The protocol for identifying these fetuses had for many years included a single clinical criterion of maternal age. Advances in biochemical screening combined with the excellent display of fetal dysmorphology afforded by technological advances in ultrasound equipment have resulted in a paradigm shift in the diagnosi...

OBJECTIVE To determine the prevalence of termination of pregnancy for fetal anomaly (TOPFA) after 23 weeks of gestation in European countries, and describe the spectrum of anomalies for which late TOPFA is recorded. DESIGN Population-based study. SETTING Twelve European countries. POPULATION Nineteen registries of congenital anomaly in 12 European countries between 2000 and 2005. The numb...

Female breast cancer remains one of the major problems in medical practice because the physician lacks understanding of the etiology and, in the absence of such information, resorts to therapy that may be inadequate in some patients. This volume summarizes in almost abstract form, papers delivered at an international conference in mid-1976. It is timely and represents diverse viewpoints from ma...

Veterinary cytogenetics is an area of genetics that deals with normal or abnormal chromosomes of animals. Chromosome abnormalities in cattle can cause significant adverse effects on fertility through failure of production of viable gametes or early embryonic death that consequently leads to great economic loss. Chromosomal aberrations can occur as numerical errors or structural rearrangements u...

A limited body of data over the past 35 years has suggested that autoimmunity may be responsible for some cases of aneuploidy. The role of diabetes mellitus in the etiology of chromosomal anomalies has been infrequently studied. This study was designed to compare the prevalence of chromosome abnormalities among the offspring of women with gestational diabetes and the offspring of women without ...

Correspondence: Dr. C.A. Ionescu e-mail: antoniuginec@ yahoo.com After numerous clinical validation studies, non-invasive prenatal testing for fetal aneuploidy detection is now a clinical reality. While non-invasive prenatal testing was accepted due to the high accuracy for fetal trisomy (21, 18 and 13) detection, recent research showed that genome-wide analysis is able to detect other fetal an...

OBJECTIVES To determine the excess risk of non-chromosomal congenital anomaly (NCA) among teenage mothers and older mothers. DESIGN AND SETTING Population-based prevalence study using data from EUROCAT congenital anomaly registers in 23 regions of Europe in 15 countries, covering a total of 1.75 million births from 2000 to 2004. PARTICIPANTS A total of 38,958 cases of NCA that were live bir...

A new classification of microphthalmos and coloboma is proposed to bring order to the complexity of clinical and aetiological heterogeneity of these conditions. A phenotypic classification is presented which may help the clinician to give a systematic description of the anomalies. The phenotype does not predict the aetiology but a systematic description of ocular and systemic anomalies improves...

Prenatal diagnostic testing is a rapidly advancing field. An accurate diagnosis of structural anomalies and additional abnormalities in fetuses with structural anomalies is important to allow "triage" and designation of prognosis. This will allow parents to make an informed decision relating to the pregnancy. This review outlines the current tests used in prenatal diagnosis, focusing particular...

Congenital anomalies are a major cause of fetal and neonatal death and of childhood morbidity. Chromosomal and other genetic abnormalities, environmental teratogens and some nutritional deficiencies account for some congenital anomalies but the majority are of unknown etiology. The hypothesis is here proposed that a significant proportion of congenital anomalies and cerebral palsy of unknown et...