VERY-LOW MATERNAL SERUM UNCONJUGATED ESTRIOL AND PRENATAL-DIAGNOSIS OF STEROID SULFATASE DEFICIENCY

被引：18

作者：

DAVID, M

ISRAEL, N

MERKSAMER, R

BARNIZAN, N

BOROCHOWITZ, Z

BAREL, H

YEHUDAI, I

DAR, H

机构：

[1] The Simon Winter Institute of Human Genetics, Bnai Zion Medical Center, Haifa

来源：

FETAL DIAGNOSIS AND THERAPY | 1995年 / 10卷 / 02期

关键词：

ESTRIOL; SCREENING; STEROID SULFATASE DEFICIENCY; X-LINKED ICHTHYOSIS;

D O I：

10.1159/000264207

中图分类号：

R71 [妇产科学];

学科分类号：

100211 ;

摘要：

Twenty-four women out of 7,875 pregnant women who enrolled in a prenatal screening program showed extremely low levels of unconjugated estriol (< 0.15 MOM). In 19 cases, intrauterine fetal death was reported. In 1 case anencephalus was detected. In the remaining 4 cases apparently normal healthy babies (1 female and 3 males) were born following uneventful pregnancies. Physical examination of the 3 boys at 4-6 weeks revealed mild ichthyosis compatible with the X-linked type, Two of them had a positive family history of X-linked ichthyosis, The examination of the girl did not reveal any significant findings. In both cases in which amniocentesis was performed, low levels of steroid sulfatase and arylsulfatase C were found, The prevalence of X-linked ichthyosis in this study is higher than previously reported, i.e. 1:1,300 males, Our results suggest that the prenatal screening program for neural tube defects and for Down's syndrome is useful for the prenatal detection of X-linked ichthyosis as well, These results are in accordance with two recent reports, The implications regarding genetic counselling are discussed.

引用

页码：76 / 80

页数：5

共 15 条

[1]

Wald N.J., Cuckle H.S., Densem J.W., Nanchahal K., Canick J.A., Haddow J.E., Knight G.J., Palomaki G.E., Maternal serum unconjugated oestriol as an antenatal screening test for Down's syndrome, Br J Obstet Gynaecol, 95, pp. 334-341, (1988)

[2]

Canick J.A., Knight G.J., Palomaki G.E., Haddow J.E., Second trimester levels of maternal serum unconjugated oestriol and human chorionic gonadotropin in pregnancies affected by fetal anencephaly and open spina bifida, Prenat Diagn, 10, pp. 733-737, (1990)

[3]

Canick J.A., Palomaki G.E., Osathanondth R., Prenatal screening for trisomy 18 in the second trimester, Prenat Diagn, 10, pp. 546-547, (1990)

[4]

Walters C.P., McKinnon W.C., Elevated maternal scrum alpha-fetoprotein

[5]

Very low unconjugated oestriol and very low human chorionic gonadotropin associated with recent fetal death, Prenat Diagn, 13, pp. 423-426, (1993)

[6]

Koppe O.G., Marinkoic-Ilsen A., Rijken G., De Groot W.P., Jobsis A.C., X-linked ichthyosis: A sulphatase deficiency, Arch Dis Child, 53, pp. 803-806, (1978)

[7]

Bartels I., Caesar J., Sancken U., Prenatal detection of X-linked ichthyosis by maternal serum screening for Down syndrome, Prenat Diagn, 14, pp. 227-229, (1994)

[8]

Goodburn S.F., Yates J.R.W., Raggatt P.R., Carr C., Ferguson-Smith M.E., Milton P.J.D., Ferguson-Smith M.A., Maternal serum screening for Down's syndrome and other fetal chromosomal abnormalities: Results from a two year prospective study, J Med Genet, 31, (1994)

[9]

Ballabio A., Parenti G., Carrczzo R., Sebastio G., Andria G., Buckle V., Frazer N., Craig I., Rocchi M., Romeo G., Jobsis A.C., Persico M.G., Isolation and characterization of a steroid sulfatase cDNA clone: Genomic deletions in patients with X-chromosome-linked ichthyosis, Proc Natl Acad Sci USA, 84, pp. 4519-4523, (1987)

[10]

Mohandas T.K., Speed R.M., Passage M.B., Yen P.H., Chandley A.C., Shapiro L.J., Role of the pseudoautosomal region in sex chromosome pairing during male meiosis: Meiotic studies in a man with a deletion of distal Xp, Am J Hum Genet, 51, pp. 526-533, (1992)

← 1 2 →