Prenatal ultrasound is a powerful tool for the detection of structural abnormalities of fetuses in trisomy 13 pregnancies. This article provides a comprehensive review of the prenatal sonographic features of trisomy 13 fetuses in the second and third trimesters, including cystic hygroma and nuchal edema, congenital heart defects, hydrops fetalis, omphalocele, diaphragmatic hernia, urinary tract abnormalities, and abnormal extremities and polydactyly.
Fetal gastro-intestinal and abdominal wall defects: associated malformations and chromosomal abnormalities
Prenatal diagnosis of congenital diaphragmatic hernia: associated malformations and chromosomal defects
The frequency of aneuploidy in prenatally diagnosed congenital heart disease: an indication for fetal karyotyping
Prenatal diagnosis and management of congenital heart defect: significance of associated fetal anomalies and prenatal chromosome studies
Omphalocele and gastroschisis: a collaborative study of five Italian congenital malformation registries
Predicting aneuploidy in fetuses with cardiac anomalies: significance of visceral situs and noncardiac anomalies
Atrioventricular septal defects diagnosed in fetal life: associated cardiac and extra-cardiac abnormalities and outcome
Congenital malformations of the diaphragm: findings of the West Midlands Congenital Anomaly Register 1995 to 2000
Karyotype and outcome of fetuses diagnosed with cystic hygroma in the first trimester in relation to nuchal translucency thickness
Extracardiac lesions and chromosomal abnormalities associated with major fetal heart defects: comparison of intrauterine, postnatal and postmortem diagnoses
Monozygotic twins with trisomy 18 of paternal origin: prenatal diagnosis and molecular cytogenetic characterization in a pregnancy with one structurally abnormal living fetus and one intrauterine fetal demise
Prenatal diagnosis of fetal congenital cystic adenomatoid malformation of the lung using three-dimensional ultrasound: comparison between the 20th and 21st centuries
Using Akaike information criterion and minimum mean square error mode in compensating for ultrasonographic errors for estimation of fetal weight by new operators
Second-trimester molecular prenatal diagnosis of sporadic Apert syndrome following sonographic findings of mild ventriculomegaly and clenched hands mimicking trisomy 18
De novo unbalanced translocation resulting in monosomy for distal 5p (5p14.1 → pter) and 14q (14q32.31 → qter) associated with fetal nuchal edema, microcephaly, intrauterine growth restriction, and single umbilical artery: prenatal diagnosis and molecular cytogenetic characterization
Efficient fetal size classification combined with artificial neural network for estimation of fetal weight
Rapid aneuploidy diagnosis by multiplex ligation-dependent probe amplification and array comparative genomic hybridization in pregnancy with major congenital malformations
Double aneuploidy with Edwards-Klinefelter syndromes (48,XXY,+18) of maternal origin: prenatal diagnosis and molecular cytogenetic characterization in a fetus with arthrogryposis of the left wrist and aplasia of the left thumb
Clinical article: screening for trisomy 13 using traditional combined screening versus an ultrasound-based protocol.
First-trimester presentation of ultrasound findings in trisomy 13 and validation of multiparameter ultrasound-based risk calculation models to detect trisomy 13 in the late first trimester.
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.