First trimester diagnosis of Pallister-Killian Syndrome in a fetus with suggestive abnormalities.
Summary of "First trimester diagnosis of Pallister-Killian Syndrome in a fetus with suggestive abnormalities."
Background: Pallister-Killian Syndrome is a rare, sporadic chromosomal disorder characterized by a tetrasomy 12p often in mosaic. It is only in 2000 that the first case of PKS was diagnosed in the first trimester further to an increased nuchal translucency Aim : Report a new case Case report : To our knowledge, we present the first case of early prenatal diagnosis of Pallister Killian Syndrome due to the presence of an increased nuchal translucency, a diaphragmatic hernia, a typical facial dysmorphism and a micromelia of a predominantly rhizomelic type . A chorionic cells biopsy showed a normal karyotype. The diagnosis was revealed on cytogenetic analysis of amniotic fluid sampling. Conclusion : The main ultrasound indicators of PKS seem to be: Hydramnios, congenital diaphragmatic hernia (CDH) and a micromelia of a rhizomelic type. The Hydrops fetalis, hygroma coli or increased nuchal translucency (INT), fetal overgrowth, ventriculomegaly and presence of a sacral appendix are less common. The amniocentesis with the study of the karyotype on amniotic cells is considered to be the gold standard for the diagnosis of PKS. A good morphological study during the first trimester in search of ultrasound abnormalities highly suggestive of PKS is able to direct the cytogenetic study.
Affiliation
Journal Details
This article was published in the following journal.
Name: La Tunisie médicale
ISSN: 0041-4131
Pages: 666-9
Links
- PubMed Source: http://www.ncbi.nlm.nih.gov/pubmed/20812182
- DOI: http://dx.doi.org/
Medical and Biotech [MESH] Definitions
Amniotic Fluid
A clear, yellowish liquid that envelopes the FETUS inside the sac of AMNION. In the first trimester, it is likely a transudate of maternal or fetal plasma. In the second trimester, amniotic fluid derives primarily from fetal lung and kidney. Cells or substances in this fluid can be removed for prenatal diagnostic tests (AMNIOCENTESIS).
Rubella Syndrome, Congenital
Transplacental infection of the fetus with rubella usually in the first trimester of pregnancy, as a consequence of maternal infection, resulting in various developmental abnormalities in the newborn infant. They include cardiac and ocular lesions, deafness, microcephaly, mental retardation, and generalized growth retardation. (From Dorland, 27th ed)
Erythropoiesis
The production of red blood cells (ERYTHROCYTES). In humans, erythrocytes are produced by the YOLK SAC in the first trimester; by the liver in the second trimester; by the BONE MARROW in the third trimester and after birth. In normal individuals, the erythrocyte count in the peripheral blood remains relatively constant implying a balance between the rate of erythrocyte production and rate of destruction.
Pallister-hall Syndrome
A pleiotropic disorder of human development that comprises hypothalamic HAMARTOMA; central and postaxial POLYDACTYLY; bifid EPIGLOTTIS; ANAL ATRESIA; and renal and other abnormalities. This disorder is associated with FRAMESHIFT MUTATIONS in the GLI3 gene which encodes the GLI3 protein, a KRUPPEL-LIKE TRANSCRIPTION FACTORS family member.
Chorionic Villi Sampling
A method for diagnosis of fetal diseases by sampling the cells of the placental chorionic villi for DNA analysis, presence of bacteria, concentration of metabolites, etc. The advantage over amniocentesis is that the procedure can be carried out in the first trimester.
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