Thanatophoric dysplasia type I presenting with increased nuchal translucency in the first trimester

We reviewed cases of early prenatal diagnosis of thanatophoric dysplasia (TD). Usually ТD is diagnosed at ultrasonic in the second-trimester scan. At first trimester the sonographic traditional signs of TD meet rarely. Often TD to be associated with increased nuchal translucency at first-trimester screening. TD may not be clearly distinguished from the other skeletal dysplasias in a first trimester. A definite diagnosis can be established by molecular genetic analysis.

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Can increased nuchal translucency in the first trimester of pregnancy predict gestational diabetes mellitus

Journal of Obstetrics and Gynaecology ◽

10.1080/01443610500231518 ◽

2005 ◽

Vol 25 (6) ◽

pp. 579-582 ◽

Cited By ~ 17

Author(s):

S. Kelekci ◽

B. Yilmaz ◽

K. Savan ◽

S. Sonmez

Keyword(s):

Diabetes Mellitus ◽

Gestational Diabetes ◽

Gestational Diabetes Mellitus ◽

First Trimester ◽

Nuchal Translucency ◽

First Trimester Of Pregnancy ◽

Increased Nuchal Translucency

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Intracardiac Doppler assessment of left valve inflow in first-trimester fetuses with increased nuchal translucency: preliminary observations in trisomy 21

Ultrasound in Obstetrics and Gynecology ◽

10.1002/uog.2817 ◽

2006 ◽

Vol 28 (1) ◽

pp. 77-81 ◽

Cited By ~ 4

Author(s):

M. A. Zoppi ◽

R. M. Ibba ◽

M. Floris ◽

F. Manca ◽

C. Axiana ◽

...

Keyword(s):

Trisomy 21 ◽

First Trimester ◽

Nuchal Translucency ◽

Left Valve ◽

Increased Nuchal Translucency

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

Romanian Journal of Clinical Research ◽

10.33695/rjcr.v2i1.24 ◽

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.

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