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Open access

Lech Dudarewicz, Urszula Wysocka and Lucjusz Jakubowski

Abstract

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.

Open access

Hanna Moczulska, Małgorzata Piotrowicz, Katarzyna Janiak, Lucjusz Jakubowski and Maria Respondek-Liberska

Abstract

Noonan syndrome is a frequent genetic disorder with autosomal dominant transmission. It is mainly characterized by congenital heart defects, short stature, and a variable degree of developmental delay. Its symptoms can be observed during fetal life, but most of them are not specific for Noonan syndrome. Cardiac symptoms such as pulmonary stenosis or hypertrophic cardiomyopathy seems to be the most specific. We present a case of Noonan syndrome monitored during fetal live using prenatal echocardiography with a brief review of the literature.

Open access

Lech Dudarewicz, Lucjusz Jakubowski, Tatiana Chilarska, Nina Wieczorek-Cichecka, Wanda Hawuła, Magdalena Kozłowska, Mariusz Grzesiak and Piotr Hincz

Abstract

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

Lech Dudarewicz, Anna Krzymińska, Wanda Hawuła, Magdalena Kozłowska, Urszula Laskowska, Agnieszka Gach, Maciej Borowiec, Wojciech Młynarski, Wojciech Ałaszewski and Lucjusz Jakubowski

Abstract

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.

Results:

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.

Conclusion:

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

Maria Respondek-Liberska, Jerzy Węgrzynowski, Przemysław Oszukowski, Ewa Gulczyńska, Elżbieta Nykiel, Lucjusz Jakubowski, Mariusz Grzesiak, Ewa Czichos and Hanna Romanowicz

Abstract

This is a case report about very rare findings in 2nd half of pregnancy (after normal 1 trimester scan ) at 18th week of gestation fetal macrosomia was detected unrelated to maternal diabetes, and acceleration fetal growth later on with unusual cardiac abnormalities (fetal cardiomegaly, cardiomyopathy, partial abnormal venous connection ). Progressive features of congestive heart failure with polyhydramnios in a fetus with estimated 5500 g predicted a poor outcome and severe neonatal condition, which was presented and discussed with the parents to be. Casearean section was performed at 33rd weeks of gestation due to maternal dyscomfort, severe legs edema and her tachypnoe. Baby boy was delivered with birth weight of 5050g, Apgar 4 with mutiple tumors. Conservative care was introduced and neonated died on the 3rd day. Differential diagnosis was discussed with special attention to Costello syndrome however without proved by genetic make-up from neonatal blood.