Prenatal diagnosis of Pallister-Killian syndrome in pregnancy with normal CVS result and abnormal ultrasound findings in the second trimester
Jazyk angličtina Země China (Republic : 1949- ) Médium print
Typ dokumentu kazuistiky, časopisecké články
PubMed
30342660
DOI
10.1016/j.tjog.2018.08.021
PII: S1028-4559(18)30188-8
Knihovny.cz E-zdroje
- Klíčová slova
- 2D-3D ultrasound, FISH, Micro-array, Pallister-Killian syndrome, Prenatal diagnosis,
- MeSH
- amniocentéza MeSH
- chromozomální poruchy diagnóza embryologie genetika MeSH
- dospělí MeSH
- druhý trimestr těhotenství MeSH
- genetické testování metody MeSH
- gestační stáří MeSH
- lidé MeSH
- lidské chromozomy, pár 12 genetika MeSH
- mozaicismus MeSH
- odběr choriových klků * MeSH
- prenatální diagnóza metody MeSH
- těhotenství MeSH
- ultrasonografie prenatální * MeSH
- Check Tag
- dospělí MeSH
- lidé MeSH
- těhotenství MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
OBJECTIVE: To highlight importance of detailed ultrasound examination in fetuses with known normal karyotype (and micro-array result) from CVS. In case of markedly abnormal ultrasound result repeated karyotyping by amniocentesis should be considered. Sample should be analyzed by routine cytogenetic techniques, however also micro-array and targeted FISH should be added in order to achieve most accurate diagnosis. CASE REPORT: We report prenatal diagnosis of Pallister-Killian Syndrome (PKS) at 18 gestational weeks. The mother asked us for second opinion scan in our centre due to finding of seven soft markers of chromosomal defects in fetus with normal CVS result. Our examination revealed asymmetrical fetal growth, normohydramnion, spastic fetal movements and several abnormalities: nuchal edema, mild bilateral hydronephrosis, omphalocoele and facial anomalies. We asked for targeted genetic analysis for PKS. Amniocentesis with repeated genetic analysis confirmed PKS (80% mosaicism of tetrasomy 12p). CONCLUSION: Diagnosis of PKS led mother to terminate pregnancy.
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