Skin Edema in First Trimester Fetuses

Abstract

Purpose: The aim of this study was to prove an association between generalized skin edema and nuchal translucency (NT) thickness and its predictive value for aneuploidy and structural anomalies.

Materials and Methods: In this retrospective study fetuses with and without skin edema in the first trimester with an NT above 2.2 mm were compared. Statistical significance was calculated with the Chi-square test (p < 0.05).

Results: 237 fetuses were included in this study (median NT of 3.0; IQR: 2.5 – 3.9 mm, median CRL 68.8; IQR: 58.9 – 74.9 mm). 17.3 % presented with skin edema. The rate of skin edema was 1.3 % in the group with an NT < 95th percentile, 2.7 % in the group with an NT between the 95th and 99th percentile, 17.5 % with an NT of 3.5 – 4.4 mm, 36.4 % with an NT of 4.5 – 5.4 mm, 54.5 % with an NT of 5.5 – 6.4 mm and 95.5 % with an NT above 6.5 mm. 19 % had chromosomal disorders. The rate of aneuploidy was 61.0 % (25/41) in the group with skin edema which was significantly higher than the rate of 10.2 % (20/196) in those without skin edema (p < 0.0001). 12 % had structural anomalies in euploid fetuses. The rate of anomalies was 43.8 % (7/16) in the group with skin edema and significantly higher compared to 9.1 % (16/176) in those without skin edema (p < 0.0005).

Conclusion: Our data show a clear association between the thickness of NT and the rate of skin edema. Skin edema has a high predictive value for aneuploidy or structural malformations. Therefore, fetuses with skin edema should have early malformation scans in case of normal karyotype.

Zusammenfassung

Ziel: Ziel der Studie war es, eine Assoziation zwischen generalisiertem Hautödem und der Nackentransparenz zu untersuchen sowie den prädiktiven Wert des Hautödems für Aneuploidien und strukturelle Anomalien.

Material und Methoden: Alle Feten mit und ohne Hautödem, die zwischen 2004 und 2009 im Ersttrimester Screening zwischen 11. – 14. SSW eine NT > 2,2 mm hatten, wurden aus unserer Datenbank inkludiert.

Ergebnisse: 237/248 Feten mit einer medianen SSL von 68,8 mm (IQR: 58,9 – 74,9 mm) und einer medianen NT von 3,0 mm (IQR: 2,5 – 3,9 mm) wurden in die Studie inkludiert. 17,3 % wiesen ein generalisiertes Hautödem auf. In der Gruppe mit einer NT < 95. Perzentile hatten 1,3 % ein Hautödem, 2,7 % in der Gruppe mit einer NT zwischen der 95. – 99. Perzentile, 17,5 % mit einer NT zwischen 3,5 – 4,4 mm, 36,4 % mit einer NT von 4,5 – 5,4 mm, 54,5 % mit einer NT von 5,5 – 6,4 mm und 95,5 % mit einer NT > 6,5 mm. 19 % (45/237) der Feten zeigten chromosomale Veränderungen. Aneuploidien waren in der Gruppe mit Hautödem signifikant häufiger (61 %), verglichen mit der Gruppe ohne Hautödem (10,2 %) (p < 0,0001). In der Gruppe von Feten mit normalem Karyotyp zeigten 12 % (23/192) strukturelle Veränderungen. Anomalien waren hier mit 43,8 % in der Gruppe mit Hautödem signifikant häufiger als in der Gruppe ohne Hautödem (9,1 %) (p < 0,0005).

Schlussfolgerung: Unsere Daten zeigen eine klare Assoziation des generalisierten Hautödems mit der Nackentransparenz. Das Vorhandensein eines Hautödems hat einen hohen Voraussagewert für Aneuploidien und strukturelle Anomalie. Deshalb ist in dieser Gruppe neben der Karyotypisierung eine frühe Organdiagnostik indiziert.

Key words

ultrasound - first trimester - skin edema

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