Premium
Prenatal detection of X‐linked ichthyosis by maternal serum screening for down syndrome
Author(s) -
Bartels Iris,
Caesar Julius,
Sancken Ulrich
Publication year - 1994
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970140316
Subject(s) - medicine , ichthyosis , down syndrome , population , pregnancy , obstetrics , prenatal diagnosis , microcephaly , miscarriage , anencephaly , fetus , pediatrics , biology , dermatology , genetics , psychiatry , environmental health
Abstract Maternal serum unconjugated oestriol (uE3) was measured in 15 375 pregnancies during 2 years of second‐trimester risk assessment for Down syndrome using biochemical markers. Very low levels of uE3 (<0·1 MOM) were detected in 22 serum samples (0·14 per cent). Very low uE3 was associated with an adverse outcome in 13 pregnancies including fetal death and miscarriage ( N =11), anencephaly ( N =1), and Meckel—Gruber syndrome ( N =1). Dry scales on the skin appeared in the first year of life in four boys. From dermatological diagnosis, prenatal uE3 levels, and pedigree analysis, it is concluded that at least 5 in approximately 7500 male births in the study population are affected by steroid sulphatase deficiency, which is the biochemical defect in X‐linked ichthyosis. Very low uE3 levels in the second trimester are indicative of this disease in pregnancies with normal ultrasound findings.