BACKGROUND Studies on the risk of chromosomal abnormalities in early spontaneous abortion after assisted reproductive technology (ART) are relatively controversial and insufficient. Thus, to obtain a more precise evaluation of the risk of embryonic chromosomal abnormalities in first-trimester miscarriage after ART, we performed a meta-analysis of all available case-control studies relating to t...

The objective of the present study was to determine the frequency of somatic chromosomal anomalies and Y chromosomal microdeletions (azoospermia factor genes, AZF) in infertile males who seek assisted reproduction. These studies are very important because the assisted reproduction techniques (mainly intracytoplasmic sperm injection) bypass the natural selection process and some classical chromo...

Chromosomal aberrations are a common cause of multiple anomaly syndromes that include growth and developmental delay and dysmorphism. Novel high resolution, whole genome technologies, such as array based comparative genomic hybridisation (array-CGH), improve the detection rate of submicroscopic chromosomal abnormalities allowing re-investigation of cases where conventional cytogenetic technique...

OBJECTIVE To determine the need for fetal karyotyping in cases of an isolated single umbilical artery (SUA) identified during the second-trimester routine anomaly scan. METHODS All patients booked for antenatal care and delivery in our hospital are offered two ultrasound scans in pregnancy, one at 11-13 weeks' gestation as part of screening for chromosomal defects and another at 20-23 weeks f...

AIMS To describe trends in total and live birth prevalence, regional differences in prevalence, and outcome of pregnancy of selected congenital anomalies. METHODS Population based registry study of 839,521 births to mothers resident in five geographical areas of Britain during 1991-99. Main outcome measures were: total and live birth prevalence; pregnancy outcome; proportion of stillbirths du...

The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is characterized by congenital aplasia of the uterus and the upper part (2/3) of the vagina in women showing normal development of secondary sexual characteristics and a normal 46, XX karyotype. It affects at least 1 out of 4500 women. MRKH may be isolated (type I) but it is more frequently associated with renal, vertebral, and, to a lesser ext...

Ultrasonographic evaluation, as a routine component of antenatal care, has significantly contributed to in utero assessment of pregnancy status. The detection of fetal abnormalities by ultrasound, however, has raised clinical questions and created parental dilemmas concerning the outcomes of such pregnancies. A relatively frequent anomaly observed on routine ultrasonographic examination is the ...

Although trisomy 18 (Edwards' syndrome) or the terminal deletion syndromes of 18p and 18q have been occasionally detected, pseudoisodicentric chromosome 18 is a very rare constitutional chromosomal abnormality. We describe a case of pseudoisodicentric chromosome 18q without mosaicism, which was confirmed from fetal cells in the amniotic fluid used for prenatal diagnosis of multiple congenital a...

PURPOSE To assess the regional patterns of infant mortality due to lethal congenital anomalies, and the potential reasons for the regional patterns. METHOD The study analyzed 2,507 infant deaths due to lethal congenital anomalies among 1,178,452 live births in 9 of the 12 Canadian provinces and territories from 1990 to 1995 recorded in Statistics Canada's live birth and death data bases. RE...