Aneuploidy and cystic hygroma detectable by ultrasound

During one year, five second trimester fetuses with cystic hygromata and varying degrees of oedema presented to the authors from hospitals in the West of Scotland. Two fetuses had 45X karyotypes, one each had 47XY + 21 and 47XX + 18 karyotypes, and the fifth had a normal 46XY karyotype. Fetal oedema...

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Bibliographic Details
Published inPrenatal diagnosis Vol. 4; no. 5; p. 377
Main Authors Redford, D H, McNay, M B, Ferguson-Smith, M E, Jamieson, M E
Format Journal Article
LanguageEnglish
Published England 01.09.1984
Subjects
Adult
alpha-Fetoproteins - metabolism
Aneuploidy
Chromosome Aberrations - diagnosis
Chromosome Disorders
Chromosomes, Human, 16-18
Diagnosis, Differential
Down Syndrome - diagnosis
Female
Fetal Death - diagnosis
Head and Neck Neoplasms - diagnosis
Head and Neck Neoplasms - genetics
Humans
Infant, Newborn
Karyotyping
Lymphangioma - diagnosis
Lymphangioma - genetics
Male
Pregnancy
Prenatal Diagnosis - methods
Trisomy
Turner Syndrome - diagnosis
Ultrasonography - methods
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Summary:During one year, five second trimester fetuses with cystic hygromata and varying degrees of oedema presented to the authors from hospitals in the West of Scotland. Two fetuses had 45X karyotypes, one each had 47XY + 21 and 47XX + 18 karyotypes, and the fifth had a normal 46XY karyotype. Fetal oedema detectable by ultrasound, affecting particularly the back of the neck, may be a commoner manifestation of several aneuploid syndromes than has hitherto been recognized.
ISSN:0197-3851
DOI:10.1002/pd.1970040509