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Cystic hygroma in the first trimester of gestation. a Sagittal view shows increased NT thickness, b axial view demonstrates a midline septum perpendicular to the skin
Source publication
Purpose
The objective of this study was to investigate perinatal outcome in cases of increased nuchal translucency (NT) with or without cystic hygroma (CH), and to determine whether first-trimester CH engenders a greater risk than simple increased NT.
Methods
In this retrospective study, data from singleton pregnancies in which fetal NT was found t...
Contexts in source publication
Context 1
... this retrospective study, data from singleton pregnancies in which fetal NT was found to be 3 mm or more at the 11 ? 0 to 13 ? 6 week scan between January 2009 and December 2011 were reviewed. All scans were performed by experienced physicians using high-resolution equipment (Voluson 730 Expert, GE Healthcare, Milwaukee, WI, USA and Xario SSA-660A, Toshiba Medical Systems). NT was measured according to the Fetal Medicine Foundation guidelines with the fetus in the midsagittal plane and fetal neck in a neutral position and the calipers placed on the inner borders of the nuchal space, perpendicular to the long axis of the fetal body [6]. Cystic hygroma was defined as a septated liquid structure of the cervico-occipital region developing from the lateral part of the neck [7]. It was differentiated by a midline septum perpendicular to the skin in the axial view ( Fig. 1), and when a septum was not seen using transabdominal ultrasound, transvaginal ultrasonography was performed in order to confirm the absence of ...
Context 2
... and the calipers placed on the inner borders of the nuchal space, perpendicular to the long axis of the fetal body [6]. Cystic hygroma was defined as a septated liquid structure of the cervico-occipital region developing from the lateral part of the neck [7]. It was differentiated by a midline septum perpendicular to the skin in the axial view ( Fig. 1), and when a septum was not seen using transabdominal ultrasound, transvaginal ultrasonography was performed in order to confirm the absence of ...
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Introduction:
Increased nuchal translucency (NT) is known to be associated with chromosomal and structural defects and genetic syndromes. Little is known of the overall long-term outcome of euploid children after increased NT. The aims of this study were to assess the additional structural defects diagnosed after discharge from the delivery hospit...
Citations
... Some researchers revealed that the presence of septations in fetuses would worsen the prognosis [7], but some others believed that the septations could be visible in all fetuses with increased NT thickness by using an appropriate gain in the transverse plane [8], and they believed that cystic hygroma does not constitute a distinct entity in the first trimester that confers a special risk status independent of the NT thickness. ...
... Some studies revealed that the presence of septations in fetuses tends to be worse compared with an isolated increased size of NT [6,7]. But others believed that septations could be visible in all fetuses with increased NT thickness by using an appropriate gain in the transverse plane by sonographers [8], and they believed that cystic hygroma does not constitute a distinct entity in the first trimester that confers a special risk status independent of the NT thickness. In our study, septations were observed in all cases. ...
Objective
To evaluate the prenatal and perinatal outcome of fetuses with extremely large nuchal translucency (eNT) thickness (≥ 6.5 mm).
Methods
193 (0.61%) singleton fetuses with eNT were retrospectively included. Anomaly scan, echocardiography, and chromosomal and genetic test were included in our antenatal investigation. Postnatal follow-up was offered to all newborns.
Results
Major congenital anomalies included congenital heart defect (32.6%, 63/193), hydrops fetalis (13.5%, 26/193), omphalocele (9.3%, 18/193), and skeletal dysplasia (7.8%, 15/193) et al. Abnormal karyotype was identified in 81/115 (70.4%) cases including Turner syndrome (n = 47), Trisomy 18 (n = 17), Trisomy 21 (n = 9), and Trisomy 13 (n = 3). Chromosomal microarray analysis provided informative results with 3.6% (1/28) incremental diagnostic yield over conventional karyotyping. The diagnostic yield of exome sequencing is 10.0% (2/20). There was no significant increase [Odds Ratio (OR) = 1.974; 95% confidence interval 0.863–4.516; P = 0.104] in the incidence of chromosomal defects despite the presence of other structural anomalies. Only 13 fetuses were successfully followed up and survived at term, no one was found with developmental delay or mental retardation.
Conclusions
Extremely large NT has a high risk of chromosomal abnormality. CMA and ES improve chromosomal genomic and genetic diagnosis of fetal increased NT. When cytogenetic analysis and morphology assessment are both normal, the outcome is good.
... Twentynine papers were secondarily excluded from data analysis: 12 papers for inadequate selection criteria to invasive genetic testing [19][20][21][22][23][24][25][26][27][28][29][30]; in 5 papers, the indication to genetic testing was inadequate for incremental yield [31][32][33][34][35]; in 4 papers, it was not possible to distinguish multiple gestations [36][37][38][39]; 3 papers did not provide appropriate differentiation between hygroma and iNT [2,40,41]; 3 papers included data from postnatal, live births and postmortem examination [42][43][44]; 2 papers provided a partial report of data about fetuses' malformations [45,46]. A total of 59 papers were adequate for quantitative analysis: 43 papers described the diagnostic application of karyotype, CMA, Rasopathy testing and/or ES in iNT cases (Table 1) [14,; 14 papers described their application in cystic hygroma (Table 2) [11,12,[89][90][91][92][93][94][95][96][97][98][99][100], and 2 papers their application in both iNT and cystic hygroma (Tables 1 and 2) [101,102]. Data concerning postnatal outcomes were retrieved from 17 papers for iNT ( The table illustrates data retrieved from the reference papers on the diagnostic yield of karyotype and the progressively incremental diagnostic yield of CMA in karyotypenegative cases, of RASopathy testing in karyotype-and CMA-negative cases, and ultimately of ES with iNT. For each reference, the cases were divided in categories based on the dimension of the NT and on whether the association with major fetal anomalies was reported or not. ...
Fetal Nuchal fluid collections can manifest with two distinct presentations attributable to the same phenotypic spectrum: increased nuchal translucency (iNT) and cystic hygroma. The prenatal detection of these findings should prompt an accurate assessment through genetic counseling and testing, including karyotype, chromosomal microarray analysis (CMA) and multigene RASopathy panel. We performed a systematic review of the literature and meta-analysis, to calculate diagnostic yields of genetic testing in fetuses with iNT and cystic hygroma. We compared the results with a cohort of 96 fetuses with these isolated findings. Fetuses with isolated NT ≥ 2.5 mm showed karyotype anomalies in 22.76% of cases and CMA presented an incremental detection rate of 2.35%. Fetuses with isolated NT ≥ 3 mm presented aneuploidies in 14.36% of cases and CMA had an incremental detection rate of 3.89%. When the isolated NT measured at least 3.5 mm the diagnostic yield of karyotyping was 34.35%, the incremental CMA detection rate was 4.1%, the incremental diagnostic rate of the RASopathy panel was 1.44% and it was 2.44% for exome sequencing. Interestingly, CMA presents a considerable diagnostic yield in the group of fetuses with NT ≥ 3.5 mm. Similarly, exome sequencing appears to show promising results and could be considered after a negative CMA result.
Objectives:
This study aimed to evaluate the association of nuchal septations with chromosomal anomalies during the first trimester of pregnancy.
Methods:
A total of 281 patients who were diagnosed to have elevated nuchal translucency (NT > 3 mm) or nuchal septations during the first trimester from Jan. 2014 to Dec. 2016 were included. These patients were divided into three groups: 1) patients with NT thickness between 3 and 5 mm and without nuchal septations (NT 3-5 mm group, n = 124), 2) patients with NT thickness > 5 mm and without nuchal septations (NT > 5 mm group, n = 96), and 3) patients with nuchal septations (NS group, n = 61).
Results:
The rate of chromosomal abnormalities was significantly higher for patients in NS group compared to those in the NT 3-5 mm group (P < .01) and NT > 5 mm group (P < .01). After controlling for maternal age, maternal BMI, ethnicity and crown-rump length, nuchal septations were reported to be significantly associated with a higher risk of chromosomal anomalies compared with NT 3-5 mm (OR = 4.97; 95% CI: 2.76-10.77; P < .01) and NT > 5 mm (OR = 3.82; 95% CI: 1.87-7.21; P < .01) (P < .01).
Conclusions:
Measurement of nuchal septations during the first trimester of pregnancy proves to be a useful ultrasound prognostic indicator of chromosomal anomalies.
