P10.05: Increased nuchal translucency as a sole clue of prenatal diagnosis in a fetus with trisomy 13

2004 ◽  
Vol 24 (3) ◽  
pp. 321-321
Author(s):  
S. R. Kim ◽  
W. I. Lee ◽  
B. Y. Lee ◽  
S. K. Lee ◽  
C. Y. Huh ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Nuchal Translucency ◽  
Trisomy 13 ◽  
Increased Nuchal Translucency

scholarly journals INCREASED NUCHAL TRANSLUCENCY IN A FETUS WITH A NORMAL KARYOTYPE: CASE REPORT

2019 ◽  
Vol 2 (1) ◽  
pp. 59-61
Author(s):  
Cristina Moisei ◽  
Anca Lesnica ◽  
Romina Marina Sima ◽  
Liana Pleș
Keyword(s):  
Chorionic Villus ◽  
Normal Karyotype ◽  
First Trimester ◽  
Nuchal Translucency ◽  
Trisomy 18 ◽  
Trisomy 13 ◽  
Chorionic Villus Sampling ◽  
Increased Risk ◽  
First Trimester Ultrasound ◽  
Increased Nuchal Translucency

Nuchal translucency (NT) is the normal fluid filled subcutaneous space measured at the back of the fetal neck measured in the late first trimester and early second trimester. Nuchal translucency screening can detect approximately 80% of fetuses with Down syndrome and other major aneuploidies with a rate of 5% of false positive results, but the merger of the NT screening with β-hCG and PAPP-A testing increases the detection rate to 90%. We present the case of a fetus with a NT of 49 mm detected at the first trimester ultrasound morphologic exam. The Kryptor test revealed a 1:35 risk for Trisomy 13 and 1:721 for Trisomy 18. We report the case of an investigated pregnancy with a NT of 49 mm detected at the first trimester ultrasound exam, with a risk of 1:35 for Trisomy 13 and 1:721 for Trisomy 18 calculated at the Kryptor test. A chorionic villus sampling was recommended and performed with a result of 46XY normal karyotype. The particularity of this case is represented by the increased nuchal translucency as well as an increased risk for trisomy 13 and 18 in a normal karyotype fetus that had a normal development in the second and third trimester with no pregnancy complications arising.

Increased nuchal translucency in trisomy 13 fetuses at 10-14 weeks of gestation

1999 ◽  
Vol 86 (3) ◽  
pp. 205-207 ◽  
Author(s):  
Rosalinde J.M. Snijders ◽  
Neil J. Sebire ◽  
Roshini Nayar ◽  
Athena Souka ◽  
Kypros H. Nicolaides
Keyword(s):  
Nuchal Translucency ◽  
Trisomy 13 ◽  
Increased Nuchal Translucency

Del(18p) syndrome with increased nuchal translucency in prenatal diagnosis

2004 ◽  
Vol 24 (3) ◽  
pp. 161-164 ◽  
Author(s):  
Young-Mi Kim ◽  
Eun-Hee Cho ◽  
Jin-Mi Kim ◽  
Moon-Hee Lee ◽  
So-Yeon Park ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Nuchal Translucency ◽  
Increased Nuchal Translucency

Monozygotic Twins Discordant for Trisomy 13

2017 ◽  
Vol 20 (4) ◽  
pp. 340-347 ◽  
Author(s):  
Patrick McFadden ◽  
Sarah Smithson ◽  
Robert Massaro ◽  
Jialing Huang ◽  
Gail T Prado ◽  
...  
Keyword(s):  
Uniparental Disomy ◽  
Monozygotic Twins ◽  
First Trimester ◽  
Nuchal Translucency ◽  
Trisomy 13 ◽  
Ultrasound Finding ◽  
Umbilical Cord Cyst ◽  
First Trimester Ultrasound ◽  
Mosaic Trisomy ◽  
Increased Nuchal Translucency

Monozygotic twins with discordant karyotypes for trisomy 13 are rare. We report a case of a spontaneously conceived pregnancy who presented with first-trimester ultrasound finding of umbilical cord cyst and increased nuchal translucency in Twin A and no abnormalities in Twin B. Amniocentesis revealed 47,XY,+13 karyotype in Twin A and 46,XY karyotype in Twin B. Selective fetal reduction was performed for Twin A. Twin B was delivered at 32 weeks gestation with normal phenotype. Peripheral blood karyotype revealed 15% mosaicism for trisomy 13 and skin fibroblast revealed 46,XY karyotype. The surviving twin will be monitored for potential complication of uniparental disomy 13 and mosaic trisomy 13. This case reinforces the need for early ultrasound and nuchal translucency measurements, especially in twin gestations.

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