Genetic assessment following increased nuchal translucency and normal karyotype
نویسندگان
چکیده
منابع مشابه
[Increased nuchal translucency with normal karyotype].
Nuchal translucency (NT) measurement in first trimester screening between 11 and 14 weeks' gestation has now been clearly identified as a marker for aneuploidies and in particular for trisomy 21. Even in the absence of aneuploidy increased fetal nuchal translucency has been shown to be a marker for fetal heart malformations and numerous other fetal defects and genetic syndromes when the measure...
متن کاملIncreased nuchal translucency in fetuses with a normal karyotype.
Sonographic assessment of nuchal translucency (NT) thickness has been recognized as an effective means of screening for trisomy 21 and other chromosomal abnormalities at 11–14 weeks of gestation. Up to 80% of aneuploid fetuses have increased NT, but this feature is also found in 5% of karyotypically normal fetuses at this stage of pregnancy (Snijders et al., 1998). As this screening test examin...
متن کاملIncreased nuchal translucency and normal karyotype: perinatal and pediatric outcomes at 2 years of age.
OBJECTIVE To assess the perinatal and pediatric outcomes up to 2 years of age in singleton karyotypically normal fetuses with increased nuchal translucency (NT) above the 99(th) percentile. METHODS Singleton fetuses with NT above the 99(th) percentile and normal karyotype scanned in our center from 2002 to 2006 were included. Work-up included first- and second-trimester anomaly scan, first- a...
متن کامل[Increased fetal nuchal translucency thickness and normal karyotype: prenatal and postnatal follow-up].
OBJECTIVE The aim of this study was to evaluate pregnancy and postnatal outcomes of fetuses with increased nuchal translucency thickness (NT) and normal karyotype. METHODS Two hundred seventy five fetuses with increased NT were examined with karyotyping analysis, serial ultrasound scans, echocardiography and postnatal clinical and genetic evaluation at the Fetal Medicine Unit - Department of ...
متن کاملIncidence of major structural cardiac defects in fetuses with increased nuchal translucency and normal karyotype
Background Nuchal translucency (NT) is the sonographic appearance of a collection of fluid under the skin behind the fetal neck in the first-trimester of pregnancy. In fetuses with chromosomal abnormalities, cardiac defects and many genetic syndromes NT thickness is increased. The aim of the study was to evaluate the incidence of major cardiac defects in relation to the fetal NT in chromosomall...
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ژورنال
عنوان ژورنال: Prenatal Diagnosis
سال: 2011
ISSN: 0197-3851
DOI: 10.1002/pd.2718