Ultrasonograficzne markery aberracji chromosomowych u płodu
© Borgis - Nowa Medycyna 1/2004
Krzysztof Preis, Małgorzata Świątkowska-Freund
Streszczenie
Due to present standards, the first ultrasound examination in pregnant woman should be performed between the 11th and 14th week of gestation and the second one, between the 18th and the 22nd week. During these examinations we have the opportunity to find some special features in the ultrasound fetal image associated with aneuploidies called ultrasound markers of fetal chromosomal abnormalities. Markers that can be found in the first trimester are: enlarged „nuchal translucency”, shorter or absent nasal bone, present of omphalocoele, shorter femur length and choroid plexus cysts. The main marker observed in the second trimester scan is the abnormal heart structure. Other markers of chromosomal abnormalities are: choroid plexus cysts, enlarged cysterna magna, shortened cerebral frontal lobes, „strawberry” shaped skull, posterior fossa cyst, ventriculomegaly, holoprosencephaly, microcephaly, brachycephaly, micrognathia, cleft lip or palate, shorter or absent nasal bone, shorter ear size, nuchal fold, cystic hygroma, echogenic cardiac foci, pleural effusion, diaphragmatic hernia, oesophageal atresia, duodenal atresia, omphalocoele, kidney dysplasia, renal agenesis, ascites, hyperechogenic bowel, pyelectasis, abnormal pelvic angulation, polidactyly, shortened 5th finger bone, overlapping fingers, shortened femur and humerus, sandal gap, club hand or foot, general oedema, polihydramnion, umbilical cord cyst and asymetric growth.
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