Increased nuchal translucency origins from abnormal lymphatic development and is independent of the presence of a cardiac defect

Burger, Nicole B.; Bekker, Mireille N.; Kok, Evelien; Groot, Christianne de; Martin, James F.; Shou, Weinian; Scambler, Peter J.; Lee, Youngsook; Christoffels, Vincent M.; Haak, Monique C.

doi:10.1002/pd.4687

Cited by 8 publications

(8 citation statements)

References 42 publications

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“…Regarding the 1q21.1 segment, previous studies in mice and humans suggest strongly that the GJA5 gene, which encodes connexin‐40, is the critical gene for the CHD phenotype. Given the known relationship between increased NT and CHD, the detection of deletions at 15q11.2 and 1q21.1 loci is worth investigating further. Unfortunately, our five fetuses harboring these CNVs did not have follow‐up information available.…”

Section: Discussionmentioning

confidence: 99%

Diagnostic yield of chromosomal microarray analysis in fetuses with isolated increased nuchal translucency: a French multicenter study

Egloff

Hervé

Quibel

et al. 2018

Ultrasound in Obstet & Gyne

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Section: Discussionmentioning

confidence: 99%

Diagnostic yield of chromosomal microarray analysis in fetuses with isolated increased nuchal translucency: a French multicenter study

Egloff

Hervé

Quibel

et al. 2018

Ultrasound in Obstet & Gyne

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“…Fourteen Japanese human embryos at CS20 (n = 4) and CS21 (n = 10) (Crown‐Rump length [CRL]: 16.5‐24.1 mm) were selected from the Kyoto Collection at the Congenital Anomaly Research Center of Kyoto University . The Kyoto Collection is one of the largest working collections of human embryos.…”

Section: Methodsmentioning

confidence: 99%

“…The Kyoto Collection is one of the largest working collections of human embryos. While the field of human embryology started in the 19th century, today the field has grown, with a global focus on sharing the histological data of human embryos . All embryos were obtained when a pregnancy was terminated during the first trimester for socioeconomic reasons under the Maternity Protection Law of Japan.…”

Section: Methodsmentioning

confidence: 99%

Vesicular swelling in the cervical region with lymph sac formation in human embryos

Ohga

Sakamoto

Yamada

et al. 2019

Congenital Anomalies

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Vesicular swelling in the cervical region (VSC) is occasionally observed among human embryos around Carnegie stage (CS) 21. However, its mechanism and significance in fetal development are unclear. The present study aimed to analyze the relation of development of VSC with jugular lymph sac (JLS) formation. Serial histological sections that were digitalized from 14 embryos at CS20 and CS21 stored at the Kyoto Collection were used for the analysis. Subcutaneous edema and enlargement of the subarachnoid space were found to cause VSC. No obvious abnormalities in cranial regions that may be related to the VSC were detected on histological sections. Three‐dimensional reconstructions revealed the following: (a) the JLS was located bilaterally at the levels between the first and fourth cervical vertebrae; (b) the JLS was pyramidal in shape; and (c) no severe deformity and/or malformation was found in all samples. The JLS was not connected to the subcutaneous tissue and subarachnoid space in all samples. The mean volume of the JLS increased nine‐times from CS20 (0.02 mm3 in VSC [−] group) to CS21 (0.18 mm3 in VSC [−] group). The mean volume of the JLS was comparable between the VSC [−] and VSC (+) groups at both CS20 and CS21. A moderate correlation was observed between VSCd and the mean volume of the JLS in both groups at CS20 (R2 = 0.75) and CS21 (R2 = 0.56). In conclusion, the dynamics of the lymphatic system at the cervical region may contribute to VSC observed around CS21. © 2019 Japanese Teratology Society

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“…Nuchal translucency (NT) is the normal fluid-filled subcutaneous space identified at the back of the fetal neck during the late first trimester and early second trimester (1) . NT is one of the parameters of first trimester screening tests for trisomies 21, 18 and 13 (2) , and an increased NT is thought to be related to dilated lymphatic channels and is considered a nonspecific sign of a more generalized fetal abnormality (3) . Fetuses with an increased NT are at increased risk of chromosomal anomalies, structural defects, and genetic syndromes (4,5) .…”

Section: Introductionmentioning

confidence: 99%

Fetal nuchal translucency: is there an association with birthweight and neonatal wellbeing?

Kalem¹,

A²,

Bakırarar³

et al. 2019

tjod

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Objective: To evaluate the relationship between nuchal translucency (NT) values with birthweight and the wellbeing of the newborn. Materials and Methods: This retrospective cohort study that included 508 patients made use of data on healthy full-term, singleton, live birth newborns in a university hospital between 2016 and 2018. The relationship between the NT multiple of the median (MoM) value and maternal body mass index, birthweight, sex, need for neonatal intensive care unit (NICU), and APGAR scores was evaluated. Similarly, the relationship between birthweight and NT MoM, and biochemical data in the first trimester was also evaluated. Results: There was a positive correlation between NT and birthweight (p<0.001). The need for NICU admission increased (p=0.001), and APGAR 1st minute scores decreased (p=0.001) with increasing NT, and APGAR 5th minute scores remained unchanged (p=0.057). Conclusion: The present study identified a positive correlation between first trimester NT and birthweight, and a negative correlation with the wellbeing of the neonate.

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Increased nuchal translucency origins from abnormal lymphatic development and is independent of the presence of a cardiac defect

Abstract: Objective To assess whether cardiac failure, because of cardiac defects, and abnormal jugular lymphatic development are involved in nuchal edema (NE) -the morphological equivalent of increased nuchal translucency -in various euploid mutant mouse models.

Cited by 8 publications

References 42 publications

Diagnostic yield of chromosomal microarray analysis in fetuses with isolated increased nuchal translucency: a French multicenter study

Diagnostic yield of chromosomal microarray analysis in fetuses with isolated increased nuchal translucency: a French multicenter study

Vesicular swelling in the cervical region with lymph sac formation in human embryos

Fetal nuchal translucency: is there an association with birthweight and neonatal wellbeing?

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