𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Ultrasound screening for fetal chromosome anomalies

✍ Scribed by Drugan, Arie; Johnson, Mark P.; Evans, Mark I.


Publisher
John Wiley and Sons
Year
2000
Tongue
English
Weight
55 KB
Volume
90
Category
Article
ISSN
0148-7299
DOI
10.1002/(sici)1096-8628(20000117)90:2<98::aid-ajmg2>3.0.co;2-h

No coin nor oath required. For personal study only.

✦ Synopsis


Ultrasound evidence for aneuploidy may be found in almost every organ of the fetus and can be used to modify the risk of aneuploidy. The diagnosis of these minor anomalies on second-trimester ultrasonography will increase the risk of an abnormal karyotype whereas the absence of these findings may reduce this danger. The most specific and most ominous isolated markers for fetal aneuploidy are nuchal findings (edema or cysts), indicating the need to obtain a fetal karyotype in all cases irrespective of maternal age or results of biochemical serum screening. Hyperechoic fetal bowel is apparently also a strong indicator of fetal aneuploidy. Other isolated sonographic markers may increase the risk of an abnormal karyotype three- to ninefold. Most sonographic markers for aneuploidy specify an increased risk for Down syndrome, but choroid plexus cysts are apparently more specific for trisomy 18. Along with other screening methods, ultrasound screening for fetal aneuploidy should be used routinely to identify additional pregnancies at need for evaluation of fetal karyotype.


πŸ“œ SIMILAR VOLUMES


XYY chromosome anomaly and schizophrenia
✍ Rajagopalan, Mani; MacBeth, Robyn; Varma, Shashjit Lal πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 4 KB πŸ‘ 2 views

Sex chromosome anomalies have been associated with psychoses, and most of the evidence is linked to the presence of an additional X chromosome. We report a patient with XYY chromosome anomaly who developed schizophrenia.

Fetal gender impact on multiple-marker s
✍ Bazzett, Lisa B.; Yaron, Yuval; O'Brien, Joseph E.; Critchfield, Gregory; Kramer πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 14 KB

Maternal serum alpha-fetoprotein (MSAFP), human chorionic gonadotropin (hCG), and unconjugated estriol (uE3) are used in combination with maternal age to calculate the risk for Down syndrome (DS) in pregnancy. Increased levels of hCG and decreased levels of MSAFP and uE3 are consistent with an incre

cover
✍ Parmley, Debra πŸ“‚ Fiction πŸ“… 2018 πŸ› Aces Press, LLC 🌐 English βš– 89 KB πŸ‘ 2 views
Prader-Willi syndrome phenotype in X chr
✍ Stratakis, Constantine A. πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 7 KB πŸ‘ 2 views

Recently, two female patients with supernumerary small marker X chromosome and a Prader-Willi syndrome (PWS)-like phenotype were reported by Tu Β¨mer et al. [1998]. Both patients presented during childhood with obesity that started around the third year of life, mental retardation, small hands and fe

cover
✍ Ludewig, Alexandra; πŸ“‚ Fiction πŸ“… 2014 🌐 English βš– 546 KB πŸ‘ 1 views