Elevated maternal serum α-fetoprotein levels: What is the risk of fetal ancuploidy?

Thiagarajah, Siva; Stround, Christopher B.; Vavelidis, Fotini; Schnorr, John A.; Schnatterly, Patricia T.; Ferguson, James

doi:10.1016/0002-9378(95)90257-0

Cited by 8 publications

(2 citation statements)

References 14 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…This issue was extensively discussed in the 1980s, when maternal serum AFP was widely used in screening for neural tube defects and amniocentesis was performed to measure acetyl cholinesterase in patients with high AFP. On the issue of whether karyotyping should additionally be carried out, the prevailing view was that karyotyping samples with a low yield of chromosomal abnormalities was an unnecessary cost at the expense of other health care provisions (Gosden et al, 1981;Thiagarajah et al, 1995). The same is also true in the case of amniocentesis for other indications, such as infection or haemoglobinopathies, where the samples are not automatically subjected to full karyotyping.…”

Section: Discussionmentioning

confidence: 99%

Ultrasound findings before amniocentesis in selecting the method of analysing the sample

Kagan

Chitty²,

Cicero

et al. 2006

Prenatal Diagnosis

View full text Add to dashboard Cite

show abstract

Section: Discussionmentioning

confidence: 99%

Ultrasound findings before amniocentesis in selecting the method of analysing the sample

Kagan

Chitty²,

Cicero

et al. 2006

Prenatal Diagnosis

View full text Add to dashboard Cite

show abstract

“…Therefore, even though the biochemical studies in maternal serum require deeper analysis, in our cases we cannot consider ß-hCG, MSAFP or AFP in AF as indicators of triploid fetus (table 1). However, alterations founds in AFP, AF and ß-hCG could correspond to the malformations found in fetal and placental development (case 2: decreased ß-hCG levels } hypoplastic placenta; case 4: increased AFP levels } omphalocele; increased ß-hCG levels } hypertrophic placenta) [20,21].…”

Section: Discussionmentioning

confidence: 99%

Sonographic, Cytogenetic and DNA Analysis in Four 69,XXX Fetuses Diagnosed in the Second Trimester

Fernández-Moya

Sanz²,

Alba³

et al. 2000

Fetal Diagn Ther

View full text Add to dashboard Cite

Objective: To describe the ultrasound findings and its relationship with the cytogenetic study and the origin of the extra haploid chromosome set in four 69,XXX cases. Methods: Four pregnant women were referred because of abnormal 2nd trimester ultrasound. Karytoypes, FISH and DNA analysis were performed. Results: All cases presented asymmetrical intrauterine growth retardation, marked oligohydramnios and placental alterations and showed a 69,XXX karyotype. In three cases, DNA analysis allowed to establish the origin of the extra haploid chromosome set. Conclusions: At least three fetuses had a maternal extra haploid chromosome set. Thus, it has been possible to establish the main ultrasonographic markers and to observe the survival of the fetus until the second trimester when they have a maternal origin.

show abstract

Prenatal diagnosis of the distal 11q deletion and review of the literature

et al. 2004

View full text Add to dashboard Cite

Objectives To present the prenatal diagnosis of de novo distal 11q deletions and a review of the literature. Clinical Subjects and Methods A 31‐year‐old primigravid woman underwent amniocentesis at 20 weeks' gestation because of a maternal serum alpha‐fetoprotein (MSAFP) level of 2.63 multiples of the median. Amniocentesis demonstrated a karyotype of 46,XY,del(11)(q24.2). The parental karyotypes were normal. Level II ultrasound revealed short femurs and humeri, and overlapping of the toes. Postnatally, the proband manifested additional findings of the characteristic facial dysmorphism and camptodactyly. A 38‐year‐old gravida 2, para 1, woman underwent amniocentesis at 18 weeks' gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 46,XX,del(11)(q24.1). The parental karyotypes were normal. Level II ultrasound did not show fetal structural abnormalities. Postnatally, the proband manifested characteristic facial dysmorphism and camptodactyly. Results Of these two cases, genetic marker analysis determined the paternally derived distal deletions of chromosome 11q and the deletion breakpoints. A comparison of the present cases with the reported cases of prenatally diagnosed distal 11q deletion is made. Conclusion The distal 11q deletion can be identified prenatally because of parental balanced translocations involving chromosome 11, previous‐term infants with an unbalanced rearrangement, advanced parental age, sonographically detected fetal abnormalities and abnormal maternal serum screening. Fetuses with de novo distal 11q deletions may be associated with elevated MSAFP and abnormal sonographic findings of the digits and limbs in the second trimester. Copyright © 2004 John Wiley & Sons, Ltd.

show abstract

Elevated maternal serum α-fetoprotein levels: What is the risk of fetal ancuploidy?

Cited by 8 publications

References 14 publications

Ultrasound findings before amniocentesis in selecting the method of analysing the sample

Ultrasound findings before amniocentesis in selecting the method of analysing the sample

Sonographic, Cytogenetic and DNA Analysis in Four 69,XXX Fetuses Diagnosed in the Second Trimester

Prenatal diagnosis of the distal 11q deletion and review of the literature

Contact Info

Product

Resources

About