Fetal nuchal translucency: ultrasound screening for fetal trisomy in the first trimester of pregnancy

Author(s):  
H. K. S. Hinshaw
Author(s):  
Tamara Illescas ◽  
Waldo Sepulveda ◽  
Begona Adiego ◽  
Pilar Martinez-Ten

ABSTRACT In the last 20 years, the role of first-trimester ultrasound screening has expanded from individual calculation of the risk of aneuploidy through measurement of the nuchal translucency to a powerful technique to evaluate important aspects of the fetal anatomy. Traditionally, the full anatomy scan for detection of structural anomalies has been performed in the second trimester of pregnancy. However, with the implementation of the first-trimester scan at 11 to 13 weeks of gestation many of the structural anomalies traditionally detected in the second trimester can now be identified earlier in pregnancy. In the first part of this review we discuss the main ultrasound findings that may facilitate the prenatal detection of fetal brain, face and neck abnormalities in the first trimester of pregnancy. How to cite this article Sepulveda W, Illescas T, Adiego B, Martinez-Ten P. Prenatal Detection of Fetal Anomalies at the 11- to 13-Week Scan—Part I: Brain, Face and Neck. Donald School J Ultrasound Obstet Gynecol 2013;7(4):359-368.


BMJ ◽  
1992 ◽  
Vol 304 (6831) ◽  
pp. 867-869 ◽  
Author(s):  
K. H. Nicolaides ◽  
G. Azar ◽  
D. Byrne ◽  
C. Mansur ◽  
K. Marks

2016 ◽  
Vol 4 (3) ◽  
pp. 449-452 ◽  
Author(s):  
Mariya Angelova Angelova ◽  
Emil Kovachev ◽  
Nikolai Todorov

AIM: The aim of this publication is to present a case of CMV infection during pregnancy, with clinical manifestations of the development of microcephaly and simultaneous dilatation of the 3rd and 4th brain ventricle at 23 weeks gestation. This article discusses the role of ultrasound screening in the second trimester of pregnancy.CASE PRESENTATION: We present the case of a 25-year-old woman with the initials S.K. in her second pregnancy that came to our antenatal Consulting Centre. The first screening for blood count, blood group, biochemistry and serology showed results within the reference range. The patient came for a second comprehensive biochemical screening at 17 – 18 weeks gestation. The results showed the low genetic risk of congenital anomalies. Fetal morphology of the fetus was normal. S.K. came again for consultation at 22 weeks gestation in connection with the admittance of her first 3-year-old child to the hospital because of pneumonia. Serological tests of the child had shown elevated CMV titer - specific IgM. Then we made new serological tests of the patient and the results have shown that the patient was most likely infected by CMV primarily in the first trimester of pregnancy. After consulting about the risk of transmission of CMV to the fetus, the woman chose monthly ultrasound scans and refused amniocentesis. At 36 weeks gestation, in addition to the microcephaly already established, enlargement of the IV brain ventricle at the expense of underdevelopment of the cerebellum was noticed. Also, 2nd to 3rd stage of placenta maturity and low quantity of amniotic fluid was established. A male fetus of weight 2,890 g and height 50 cm was delivered.   The fetus was with skin petechiae and hepatosplenomegaly. Neurological examination showed no abnormalities.CONCLUSIONS: In the described case the time interval between infection and ultrasonic manifestations is more than 17 weeks. The long interval between infection and occurrence of ultrasound markers can be a good prediction sign, as it may reflect less aggressive viral infection than present in cases where similar ultrasound findings were obtained shortly after infection of the mother.


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