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The purpose of our study was to compare the incidence of chromosomal abnormalities of fetuses with isolated fetal ventriculomegaly (VM) to that of fetuses with the sole risk factor of being born to mothers of advanced age.
This article was published in the following journal.
Name: Molecular genetics & genomic medicine
To explore the chromosomal analysis for fetuses with nasal bone absence or hypoplasia. This was a retrospective study on 29 pregnancies nasal bone absence or hypoplasia which underwent prenatal diagn...
The aim of this study is to evaluate the diagnostic utility of prenatal diagnosis using Chromosomal Microarray Analysis (CMA) for fetuses presenting with isolated or associated Intrauterine Growth Res...
Congenital heart defects (CHD), as the most common congenital anomaly, have been reported to be associated with chromosomal abnormalities. Currently, patients with CHD are routinely offered karyotypin...
To evaluate the usefulness and incremental diagnostic yield of chromosomal microarray analysis (CMA) compared to standard karyotyping in fetuses with congenital anomalies of the kidney and urinary tra...
Prenatal diagnosis of a familial 15q11.2 (BP1-BP2) microdeletion encompassing TUBGCP5, CYFIP1, NIPA2 and NIPA1 in a fetus with ventriculomegaly, microcephaly and intrauterine growth restriction on prenatal ultrasound.
We present prenatal diagnosis of a 15q11.2 (BP1-BP2) microdeletion encompassing TUBGCP5, CYFIP1, NIPA2 and NIPA1 in a fetus with ventriculomegaly, microcephaly and intrauterine growth restriction (IUG...
Isolated mild fetal ventriculomegaly is a common finding in fetal ultrasound examinations. When the ventricular diameter is more than 15 mm it is usually considered as severe and connecte...
This is the first study with a real diagnostic and prognostic focus in prenatal. In addition to this innovative aspect, the identification of cryptic imbalances in fetuses with malformativ...
This diagnostic test is aimed to compare the Karyotyping, CMA and NIPT for prenatal diagnosing chromosomal anomalies. Pregnant women who needed prenatal genetic diagnosis meted the study c...
Clubfoot is one of the most common birth defects, with a prevalence in Europe estimated between 1 and 4.5 for 1000 live birth. It is useful to distinguish the forms of isolated clubfoot, ...
Corpus callosum malformation (CCM) is the most frequently detected cerebral defect diagnosed in the prenatal setting. The most common CCM is corpus callosum agenesis (CCA) which is found i...
Selective abortion of one or more embryos or fetuses in a multiple gestation pregnancy. The usual goal is to improve the outcome for the remaining embryos or fetuses.
Care provided the pregnant woman in order to prevent complications, and decrease the incidence of maternal and prenatal mortality.
Transmission of gene defects or chromosomal aberrations/abnormalities which are expressed in extreme variation in the structure or function of the eye. These may be evident at birth, but may be manifested later with progression of the disorder.
Congenital abnormalities in which the HEART is in the normal position (levocardia) in the left side of the chest but some or all of the THORAX or ABDOMEN viscera are transposed laterally (SITUS INVERSUS). It is also known as situs inversus with levocardia, or isolated levocardia. This condition is often associated with severe heart defects and splenic abnormalities such as asplenia or polysplenia.
The presence of four sets of chromosomes. It is associated with ABNORMALITIES, MULTIPLE; and MISCARRAGES.
Radiology is the branch of medicine that studies imaging of the body; X-ray (basic, angiography, barium swallows), ultrasound, MRI, CT and PET. These imaging techniques can be used to diagnose, but also to treat a range of conditions, by allowing visuali...