Article

Prenatal diagnosis of polysplenia syndrome associated with increased nuchal translucency.

Prenatal Diagnosis (Impact Factor: 2.68). 10/2010; 30(10):1005-6. DOI: 10.1002/pd.2594
Source: PubMed
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    ABSTRACT: Nuchal translucency (NT) measurement in first trimester screening between 11 and 14 weeks' gestation has now been clearly identified as a marker for aneuploidies and in particular for trisomy 21. Even in the absence of aneuploidy increased fetal nuchal translucency has been shown to be a marker for fetal heart malformations and numerous other fetal defects and genetic syndromes when the measure is>or=95th centile which is around 3,5 mm for each gestational age. Fetuses with NT thickness above the 99th centile and normal karyotype have a high risk of adverse prenatal outcome and this increase in risk is exponential as the nuchal translucency measurement increases. However, among children born alive with normal ultrasound at 22 weeks of gestation, there was no significant association between NT thickness and development at 2 years as assessed by clinical examination and ASQ scores, when with a control population. Counselling should emphasize that when the karyotype is normal and no fetal structural malformation was missed prenatally following resolution of nuchal thickening, the prognosis is not impaired at the age of 2.
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    ABSTRACT: Increased fetal nuchal translucency thickness at 10-14 weeks of gestation is a common phenotypic expression of fetal chromosomal defects, structural abnormalities and genetic syndromes. This study reports on the prevalence of structural abnormalities and genetic syndromes in 4116 chromosomally normal pregnancies with increased fetal nuchal translucency thickness and reviews the relevant literature. In fetuses with increased nuchal translucency thickness, the prevalence of major cardiac defects, diaphragmatic hernia, exomphalos, body stalk anomaly and fetal akinesia deformation sequence is substantially higher than expected in the general population. In addition, there may be an association between increased nuchal translucency thickness and a wide range of rare skeletal dysplasias and genetic syndromes that are usually found in less than one in 10,000 pregnancies; however, the number of affected cases, both in the present and in previous series of fetuses with increased nuchal translucency thickness, is too small for definite conclusions to be drawn. The rates of miscarriage and perinatal death increase, whereas the rate of survival and the prevalence of live births with no obvious abnormalities decrease with increasing nuchal translucency thickness.
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    ABSTRACT: The study examines a possible association between increased nuchal translucency thickness at 10-14 weeks of gestation in monochorionic twin pregnancies and the subsequent development of severe twin-to-twin transfusion syndrome (TTS). In 132 monochorionic twin pregnancies, including 16 that developed severe TTS at 15-22 weeks of gestation and 116 that did not develop TTS, crown-rump length, nuchal translucency thickness and fetal heart rate were measured at 10-14 weeks. In those that developed severe TTS, the prevalence of nuchal translucency thickness above the 95th centile of the normal range and the intertwin difference in nuchal translucency thickness and fetal heart rate were significantly higher than in the non-TTS group; there were no significant differences between the groups in the inter-twin difference in crown-rump length. For fetal nuchal translucency above the 95th centile, the positive and negative predictive values for the development of TTS were 38% and 91%, respectively; the likelihood ratios of nuchal translucency above or below the 95th centile for the development of severe TTS were 4.4 (1.8-9.7) and 0.7 (0.4-0.9), respectively. These findings demonstrate that the underlying hemodynamic changes associated with TTS may manifest as increased fetal nuchal translucency thickness at 10-14 weeks of gestation.
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