Chapter-07 Ultrasound Markers of Chromosomal Anomalies in First Trimester

Author(s):  
Jaideep Malhotra
2019 ◽  
Vol 6 (6) ◽  
pp. 2685
Author(s):  
Antonieo Jude Raja ◽  
Sriambika K.

Umbilical cord cyst refers to any cystic lesion that are associated with the umbilical cord. They are classified as true cysts or pseudocysts. True cysts are small remnants of the allantois, whereas false cysts originate from liquefaction of Wharton Jelly. In present case, cyst was diagnosed at birth without any associated congenital anomalies and resolved spontaneously within a few days requiring nil surgical intervention. Umbilical cord cysts deserve special attention since 20% of them, regardless of type, are associated with structural or chromosomal anomalies. Because of this, fetal karyotyping and amniocentesis should be considered when cysts persist beyond the first trimester.


2020 ◽  
Vol 60 (1) ◽  
pp. 1-4
Author(s):  
Qing Wang ◽  
Xin Wang ◽  
Qingqing Wu

2018 ◽  
Vol 218 (1) ◽  
pp. S279
Author(s):  
Andres Espinoza ◽  
Wesley Lee ◽  
Alireza A. Shamshirsaz ◽  
Michael A. Belfort ◽  
Jimmy Espinoza

1993 ◽  
Vol 13 (6) ◽  
pp. 513-518 ◽  
Author(s):  
Guido Savoldelli ◽  
Franz Binkert ◽  
Josef Achermann ◽  
Werner Schmid

2004 ◽  
Vol 24 (3) ◽  
pp. 323-323
Author(s):  
L. Lopes ◽  
R. A. M. Sá ◽  
M. B. Silva ◽  
P. Nassar ◽  
P. C. Gomes ◽  
...  

Author(s):  
Kevin Spencer

Background: In a rapid point-of-care screening programme for chromosomal anomalies, analysis of biochemical markers in maternal blood can now be accomplished in a rapid time frame (less than 20 min). The need to leave whole blood samples some 10 min for coagulation and a further 5 min for centrifugation adds additional processing time. Methods: The possibilities for reducing this processing time were investigated using various anticoagulated blood collection systems and the Kryptor analytical platform. Plasma levels of α-fetoprotein (AFP), pregnancy-associated plasma protein-A (PAPP-A) and free human chronic gonadotrophin β-subunit (β-hCG) were compared with those in maternal serum. Results: From the mean results from ten patients it was shown that use of heparin plasma resulted in a statistically significant reduction in levels of PAPP-A and that EDTA plasma reduced the levels of PAPP-A dramatically. For AFP, levels in citrated plasma and EDTA plasma were also significantly reduced, whereas levels of free β-hCG were not affected. Conclusion: Use of alternative sample types for PAPP-A is not possible. The sample of choice for first trimester screening using the Kryptor platform is maternal serum.


2005 ◽  
Vol 53 (3) ◽  
pp. 281-283 ◽  
Author(s):  
Bernd Eiben ◽  
Ralf Glaubitz

An improvement in prenatal screening for chromosomal defects has been achieved by combining sonography and biochemical markers. Analyzing markers taken from maternal blood such as pregnancy-associated plasma protein A and free β-human chorionic gonadotropin in combination with the ultrasound marker nuchal translucency provides detection rates of 90% for the most important chromosomal anomalies. In addition, nuchal translucency is a marker for severe heart defects. This report discusses the potential of new markers such as the nasal bone.


2004 ◽  
Vol 24 (3) ◽  
pp. 320-321
Author(s):  
L. Lopes ◽  
R. A. M. Sá ◽  
C. P. Werner ◽  
A. Dourado ◽  
P. R. Marinho ◽  
...  

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