To compare the incidence and type of heart disease found in association with 45X karyotype in fetal life with postnatal life and to examine the outcome after fetal diagnosis. Fifty-three fetuses with a 45X karyotype were examined echocardiographically over a 4-year period between 1999 and 2002. Of these, 47 were referred because of increased nuchal translucency (NT). A cardiac abnormality was detected in 33/53 (62.2%) fetuses. The most common diagnosis was coarctation of the aorta in 24/53 (45.3%) fetuses, followed by the hypoplastic left heart syndrome (HLHS) in 7/53 (13.2%) fetuses. The mean NT was significantly higher in fetuses with a heart defect than in those with normal echocardiography. Termination of pregnancy was carried out in 45/53 (84.9%) fetuses and intrauterine death occurred in six cases. Two of four fetuses with a mosaic karyotype are currently alive. Turner's syndrome is associated with a higher incidence of heart defects detected prenatally when compared to postnatal reports. The commonest associated heart defects detected prenatally are HLHS and coarctation of the aorta, in contrast to postnatal life where a bicuspid aortic valve is the most common diagnosis. The typical intrauterine presentation of Turner's...Continue Reading
The distribution of chromosomal genotypes associated with Turner's syndrome: livebirth prevalence rates and evidence for diminished fetal mortality and severity in genotypes associated with structural X abnormalities or mosaicism
Results of chromosomal analysis in fetuses with cardiac anomalies as diagnosed by first- and early second-trimester echocardiography
Congenital heart disease in patients with Turner's syndrome. Italian Study Group for Turner Syndrome (ISGTS)
Turner's syndrome: cardiologic profile according to the different chromosomal patterns and long-term clinical follow-Up of 136 nonpreselected patients
Cardiac malformations and hypertension, but not metabolic risk factors, are common in Turner syndrome
Cardiac malformations in first-trimester fetuses with increased nuchal translucency: ultrasound diagnosis and postmortem morphology
Cardiovascular anomalies in Turner syndrome: spectrum, prevalence, and cardiac MRI findings in a pediatric and young adult population
Genetics of congenital heart diseases in syndromic and non-syndromic patients: new advances and clinical implications
Delineation of an isodicentric Y chromosome in a mosaic 45,X/46,X,idic(Y)(qter-p11.3::p11.3-qter) fetus by SRY sequencing, G-banding, FISH, SKY and study of distribution in different tissues
Elevated second-trimester maternal serum β-human chorionic gonadotropin and amniotic fluid alpha-fetoprotein as indicators of adverse obstetric outcomes in fetal Turner syndrome
X chromosome monosomy restricted to the left ventricle is not a major cause of isolated hypoplastic left heart
Pregnancy outcomes of prenatally diagnosed Turner syndrome: a French multicenter retrospective study including a series of 975 cases
A population-based analysis of mortality in patients with Turner syndrome and hypoplastic left heart syndrome using the Texas Birth Defects Registry
Clinical experience with sex chromosome aneuploidies detected by noninvasive prenatal testing (NIPT): Accuracy and patient decision-making
Spectrum of aortic valve abnormalities associated with aortic dilation across age groups in Turner syndrome
Diagnosis and treatment of fetal cardiac disease: a scientific statement from the American Heart Association
Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting
Non-invasive prenatal testing for the prenatal screening of sex chromosome aneuploidies: A systematic review and meta-analysis of diagnostic test accuracy studies.
Aortic coarctation is a congenital condition characterized by narrowing of the aorta. Discover the latest research on this disease here.
Birth defects encompass structural and functional alterations that occur during embryonic or fetal development and are present since birth. The cause may be genetic, environmental or unknown and can result in physical and/or mental impairment. Here is the latest research on birth defects.