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Double aneuploidy with karyotype 48,XXY,+18 in first trimester fetus - case report

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Dudarewicz L., Wysocka U., Jakubowski L.
Prenatal Cardiology
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2014
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vol. 4
|
issue 2
24-28
EN
Double anueploidy, involving both trisomy 18 and Klinefelter syndrome at the same time, is a rare event, in which the features of Edwards syndrome dominate the clinical picture. We describe a patient, who was diagnosed in the 8th gestational week with a seemingly normal intrauterine pregnancy with “chorionic bump”. In the 12th week the following abnormalities were diagnosed by ultrasound: Increased nuchal translucency (4.7 mm), increased anteroposterior diameter of the fourth ventricle and increased diameter of the third ventricle of the brain, mesocardia and cardiomegaly. The CVS karyotype revealed 48,XXY,+18 karyotype. In our opinion, the increased anteroposterior diameter of the fourth ventricle of the brain in this fetus was probably an early manifestation of the Dandy-Walker malformation (unproven because of early pregnancy termination), which is typical of Edwards syndrome fetuses. We consider the increased anteroposterior diameter of the fourth ventricle of the brain in the first trimester fetus as an indication for fetal karyotyping and further detailed imaging studies.
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Postnatal Outcomes of Children with Prenatally Diagnosed Congenital Heart Disease Combined with Congenital Diaphragmatic Hernia

76%
Więckowska K., Dudarewicz L., Moczulska H., Słodki M., Pietrzak Z., Respondek-Liberska M.
Prenatal Cardiology
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2014
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vol. 4
|
issue 4
23-27
EN
The primary aim of this study was to determine the predictive value of prenatal ultrasound and echocardiography for prognosis in congenital heart disease (CHD) with coexisting diaphragmatic hernia (DH) in a tertiary care center. Eleven records from the database of the Department for Diagnoses and Prevention of Congenital Malformations, Polish Mother’s Memorial Hospital Research Institute, were reviewed. The mean maternal age was 29,2 ± 5,1 years, and the mean gestational age at the time of diagnosis was 28,4 ± 6,7 weeks. No information was available for children discharged from hospital. Data of eight cases of prenatal DH and complex heart disease from the literature were also analyzed. Three fetuses survived the neonatal period. In each of these, CHD was other than the urgent or critical type, defined as not requiring cardiac surgical intervention in the first day or month of life. Both sets of data collected from our center and the published literature confirmed the unfavorable prognosis for fetuses with severe or critical CHD with coexisting DH.
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