Prenatal diagnosis
-
Comparative Study
A comparison of prenatal versus postnatal karyotyping for the investigation of intrauterine fetal death after the first trimester of pregnancy.
Aneuploidy is an important cause of intrauterine fetal death (IUFD) after the first trimester. Determination of the fetal karyotype of these pregnancies is commonly done in most units from solid tissues. Results from such techniques are disappointing. The aim of this audit was to compare the results of karyotyping IUFD by invasive testing (amniocentesis or chorionic villus sampling) and solid tissues (skin biopsy). ⋯ Invasive testing has a much higher success rate of karyotyping in cases of IUFD and should, therefore, be offered to women presenting with this complication irrespective of gestational age.
-
We intend to review our experience with the investigation and management of foetal arrhythmia on the basis of superior vena cava/ascending aorta (SVC/AA) Doppler flow velocity recordings. Irregular rhythms n = 307. Premature atrial and ventricular contractions were easily identified and generally self-limited in time. ⋯ The arrhythmia responded well to propanol, and no recurrence was recorded after birth. Precise prenatal identification of arrhythmia type can be achieved with the SVC/AA Doppler approach. Such information allows for a better management and a rational choice of appropriate anti-arrhythmic drug.
-
Ullrich congenital muscular dystrophy (UCMD) is a recessively inherited condition characterised by proximal joint contractures, marked distal joint hyperextensibility, rigidity of the spine and early respiratory failure. Recently, mutations in the genes encoding the subunits of collagen VI have been identified in this disease. We undertook two prenatal diagnoses for UCMD in a consanguineous family where the disease was consistent with linkage to the COL6A3 locus and immunolabelling of collagen VI in the proband's skeletal muscle was severely reduced. ⋯ These findings demonstrate that haplotype analysis in combination with immunocytochemistry is a rapid and reliable method for prenatal diagnosis of UCMD, provided the family is genetically informative and reduced collagen VI expression in the proband has been demonstrated.
-
We report a de novo translocation between chromosome 15 and 18 resulting in monosomy 18p in prenatal diagnosis. The patient was referred for amniocentesis due to increased nuchal translucency (INT) (5 mm) at 13.6 weeks of gestation. ⋯ Molecular cytogenetic findings using CGH and FISH confirmed the del(18p) with dicentromeres from both chromosome 15 and 18. The present study shows that the INT at first trimester was the only prenatal finding for the fetus with del(18p) syndrome and that molecular cytogenetic methods are useful for detecting chromosomal aberrations precisely.
-
Ultrasound scans in the mid trimester of pregnancy are now a routine part of antenatal care in most European countries. With the assistance of Registries of Congenital Anomalies a study was undertaken in Europe. The objective of the study was to evaluate prenatal detection of congenital heart defects (CHD) by routine ultrasonographic examination of the fetus. ⋯ Prenatal diagnosis of CHD is significantly higher if associated malformations are present. Cardiac defects affecting the size of the ventricles have the highest detection rate. Mean gestational age at discovery was 20-24 weeks for the majority of associated cardiac defects.