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— Ultrasound image of the fetus at 12 weeks, showing the nuchal translucency and present nasal bone.
Source publication
Increased nuchal translucency (NT) thickness is present in 40% of fetuses with diaphragmatic hernia, including 80% of those that result in neonatal death and in 20% of the survivors. A 33-year-old nulliparous woman had first trimester scan at 12 weeks. The fetus had a NT of 2.3 mm, normal ductus venosus (DV), and tricuspid doppler and present nasal...
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Citations
... Increased NT in euploid fetuses can be due to heart defects, omphalocele, body stalk anomaly, skeletal defects; some genetic syndromes, such as congenital adrenal hyperplasia, fetal akinesia, or Noonan syndrome, have been suggested as possible causes. According to recent studies, a significant correlation has been found between increased NT and the presence of diaphragmatic hernia and a higher risk of cleft palate [12], [13], [14], [15]. ...
BACKGROUND: Increased nuchal translucency (NT) is associated with a high risk of chromosomal abnormalities and genetic syndromes. In fetuses with normal karyotype, thickened NT increases the likelihood of congenital heart malformations, spontaneous abortions, and stillbirths, especially in thickness > 3.5 mm. It was found that in the absence of accompanying structural abnormalities and a normal result of amniocentesis, the postnatal neurological development of the newborns did not differ from the general population. CASE PRESENTATION: The authors describe a case of sIUGR of monochorionic twins with second trimester selective umbilical cord ablation and livebirth of a healthy singleton. CONCLUSION: Abnormal NT thickness on early fetal morphology scan in euploid fetuses, especially in twin pregnancies, increase the suspicion for late complications of the pregnancy.
... [4] Euploid fetuses with increased NT may present with structural anomalies, including cardiac defects, diaphragmatic hernias, exomphalos, body stalk anomalies, and skeletal defects; certain genetic syndromes, such as congenital adrenal hyperplasia, fetal akinesia, or Noonan syndrome, have been cited as possible causes. [5] A diaphragmatic hernia can occur in a fetus with a normal karyotype, as observed in a case described in a recent article. [6] Other authors have reported a significant correlation between increased NT and a higher risk of orofacial cleft defects. ...
The use of nuchal translucency (NT) in 1992 by Nicolaides et al was a major breakthrough in screening for chromosomal aneuploidies at the end of the first trimester. However, pathological conditions other than chromosomal aneuploidies are also associated with increased NT, which can also be detected in normal fetuses. This study sought to evaluate the causes of this ultrasound sign in a group of patients from Iasi, Romania.
During the decade-long study period, there were 71 certified cases involving increased NT; the patients in these cases underwent diagnostic amniocentesis and karyotyping.
In most of the examined cases (55 cases, 78%), there was no aneuploidy. The remaining cases involved trisomy 21 (T21) (18%), trisomy 18 (T18) (2%), or triploidy (2%). In most cases, the indication for amniocentesis was increased NT alone (81%), whereas the remaining cases also involved advanced maternal age (5.5%), abnormal serologic markers (10%), or other ultrasound signs (3.5%) (2 cases—cardiac anomalies and fetal hydrops). A favorable pregnancy outcome at term was achieved in 40 cases (56% from total, 72% from euploid pregnancies); kidney anomalies or nonlethal cardiac conditions were observed in 12 cases (17%), 6 of which involved complications associated with premature onset of labor, and miscarriages occurred in 6 cases. Three cases were lost at follow-up.
Although it is common practice to assume that increased NT is an indication for amniocentesis, both literature results and our study findings indicate that the majority of cases with increased NT involve no aneuploidy and result in a favorable outcome if no other anomaly is present. Better evidence-based management of such cases could be promoted by conducting larger, multicenter studies, and following cases for longer periods.
