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  • Author: Lech Dudarewicz x
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Double aneuploidy with karyotype 48,XXY,+18 in first trimester fetus - case report


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


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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Prenatal diagnosis of Wolf-Hirshhorn syndrome – case report


Wolf-Hirschhorn syndrome (WHS, MIM 194190) is caused by the loss of the genetic material of the distal segment of chromosome 4p. We present a case of the fetus diagnosed in the second trimester of pregnancy by genetic amniocentesis which was prompted by abnormalities detected on ultrasound.

Open access
Is Subtelomeric MLPA Test (Multiplex Ligation-Dependent Probe Amplification) Useful in Prenatal Diagnosis?


Objective of the study:

At the moment of study design, there was no data available on prevalence of subtelomeric imbalanced rearrangements in fetuses with abnormal phenotype assessed by ultrasound and with normal classical karyotype, consequently this study was initiated to fill in this gap.

Material & Method:

Amniotic fluid samples or chorionic villi from:

137 fetuses with abnormalities in two or more organ systems

96 fetuses with nuchal translucency above 3.5 mm (99th centile),

85 apparently healthy fetuses (control group) were studied by subtelomeric MLPA, using two kits (P036 and P070) in all cases. Confirmation of a rearrangement was obtained by means of fluorescence in situ hybridization (FISH) studies.


In the group of fetuses with abnormalities in two or more organ systems, one subtelomeric deletion (de novo deletion (del1p36).) was detected, yielding the detection rate of cryptic subtelomeric imbalances in these pregnancies of 0.84%. In the control group and in the group of fetuses with NT measurement above 3.5 mm, no abnormalities were found.


The low detection rate of subtelomeric rearrangements in the studied group, together with the low robustness of the method (only one sequence per telomere is studied in one experiment) and necessity to confirm the pathological findings with another method, imply low usefulness of the method in the prenatal setting. In the current era, there are genome-wide methods, like CGH-arrays or SNP-array, which are better-suited for prenatal diagnosis, because of higher yields and lack of necessity of confirmation of the pathological results.

Open access