title: [Hygroma colli (cervical neck edema) as an ultrasonographic parameter of fetal chromosome anomalies].
abstract: A two year retrospective study of 57 women with fetal hygroma colli between 2 and 15 mm was carried out at the University Women Hospital in Heidelberg. In this study maternal age, week of gestation, thickness of the nuchal oedema and the genetic results of amniocentesis were documented. Chromosomal abnormalities were found in 20 cases (35%), monosomy X in eleven, trisomy 21 in five and trisomy 18 in four. No connection between an individual syndrome and a particular week of gestation could be found. An increase of the thickness of the nuchal oedema showed a significant correlation to the incidence of aneuploidies. Chromosomal abnormalities were not observed in cases of less than 3 mm thickness (0/5). Between 3 and 4.9 mm one abnormal karyotype (4 mm) was found (1/18) whereas in the group of 5-6.9 mm approximately one third (6/15) of all fetuses showed chromosomal abnormalities. Aneuploid karyotypes were found in two thirds of cases (14/20) with a fetal nuchal translucency of 7 mm and more. Surprisingly, a correlation between maternal age and incidence of fetal chromosomal abnormality could be seen, but it was not significant. While a chromosomal aberration could be connected to age in 50% of mothers under the age of 25 and over 34, only a third of women aged 25-29 and only one fifth aged 30-34 showed chromosomal abnormalities in combination with hygroma colli. Our results confirm the recommendation of previous studies for extensive ultrasound examination during the first and second trimester in order to improve early detection of fetal chromosomal abnormalities particularly in women not normally covered by the age-related indication for amniocentesis.
authors.affiliation: Sektion für pränatale und gynäkologische Ultraschalldiagnostik und Therapie, Universitäts-Frauenklinik Heidelberg.
authors.forename: C
authors.initials: C
authors.lastname: Sohn
authors.forename: A S
authors.initials: AS
authors.lastname: Gast
mesh_terms: D000328:Adult; D002869:Chromosome Aberrations / Q000175:diagnosis*; D025063:Chromosome Disorders; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis / Q000235:genetics*; D005865:Gestational Age; D006801:Humans; D008208:Lymphatic System / Q000002:abnormalities*; D008210:Lymphocele / Q000175:diagnosis / Q000196:embryology / Q000235:genetics; D008423:Maternal Age; D009333:Neck; D011247:Pregnancy; D018566:Pregnancy, High-Risk; D012189:Retrospective Studies