Aneuploidy: Is cytogenetic evaluation indicated for unexplained elevated maternal serum alpha-fetoprotein?

Hiett, AK; Hl, Brown; Callaghan, CM; Am, Golichowski; Heerma, NA

doi:10.1016/s0002-9378(97)80356-0

Search citation statements

Order By: Relevance

Paper Sections

Select...

Introduction1

Citation Types

Supporting

Mentioning

Contrasting

Year Published

2010

Publication Types

Select...

Article1

Relationship

Self Cite0

Independent1

Authors

Journals

Cited by 1 publication

(1 citation statement)

References 0 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Second trimester maternal serum alpha-fetoprotein (MS-AFP), human chorionic gonadotrophin (hCG), and unconjugated estriol (uE3) levels are evaluated in pregnancies to determine the risk of aneuploidy. [ 1 2 ]…”

Section: Introductionmentioning

confidence: 99%

Triploidy in a fetus following amniocentesis referred for maternal serum screening test at second trimester

et al. 2010

View full text Add to dashboard Cite

Amniocentesis was carried out at 17 weeks gestation in a 27-year-old woman, following an abnormal maternal serum screening (MSS) test. MSS test was carried out primarily to estimate the risk of trisomy for chromosome 21. The maternal serum markers used were alpha-fetoprotein (AFP), human chorionic gonadotrophin (hCG), and unconjugated estriol (uE3), together with maternal age. The fetus was identified as screen-positive for Edward’s syndrome (trisomy 18), with low uE3, normal AFP and hCG levels. The calculated risk for trisomy 18 was more than 1:50. To identify any possible chromosomal abnormality, cytogenetic investigation was carried out on the amniotic fluid sample. The fetus’s karyotype showed triploidy with 69, XXX chromosome complement in all the metaphase spreads obtained from three different cultures, using GTG banding technique. Upon termination of the fetus, gross abnormalities indicative of triploidy were present in the fetus.

show abstract

Section: Introductionmentioning

confidence: 99%