Increased nuchal translucency with normal karyotype and genomic microarray analysis: A multicenter observational study

Spataro, Elisa; Cordisco, Adalgisa; Luchi, Carlo; Filardi, Gilda; Masini, Giulia; Pasquini, Lucia

doi:10.1002/ijgo.14637

Cited by 3 publications

(2 citation statements)

References 22 publications

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“…This is in line with the results of Metzenbauer et al [33], who found that trisomies are associated with a higher NT and smaller placental volume between 11 and 14 weeks of gestation. Based on the literature, we can confirm that a low sHLA-G expression is commonly associated with implantation failure and miscarriage [10,34], as was also confirmed by our results, since an obvious correlation exists between increased nuchal translucency and fetal loss [35]. One can speculate that a lower sHLA-G level measured in the amniotic fluid may play a role in embryonic/fetal development.…”

Section: Discussionsupporting

confidence: 89%

How the Soluble Human Leukocyte Antigen-G levels in Amniotic Fluid and Maternal Serum Correlate with the Feto-Placental Growth in Uncomplicated Pregnancies

Vincze,

Sikovanyecz,

Földesi

et al. 2024

Bioengineering

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Introduction: Trophoblast-derived angiogenic factors are considered to play an important role in the pathophysiology of various complications of pregnancy. Human Leukocyte Antigen-G (HLA-G) belongs to the non-classical human major histocompatibility complex (MHC-I) molecule and has membrane-bound and soluble forms. HLA-G is primarily expressed by extravillous cytotrophoblasts located in the placenta between the maternal and fetal compartments and plays a pivotal role in providing immune tolerance. The aim of this study was to establish a relationship between concentrations of soluble HLA-G (sHLA-G) in maternal serum and amniotic fluid at 16–22 weeks of gestation and the sonographic measurements of fetal and placental growth. Materials and methods: sHLA-G in serum and amniotic fluid, as well as fetal biometric data and placental volume and perfusion indices, were determined in 41 singleton pregnancies with no complications. The level of sHLA-G (U/mL) was tested with a sandwich enzyme-linked immunosorbent assay (ELISA) kit. Results: The sHLA-G levels were unchanged both in amniotic fluid and serum during mid-pregnancy. The sHLA-G level in serum correlated positively with amniotic sHLA-G level (β = 0.63, p < 0.01). Serum sHLA-G level was significantly correlated with abdominal measurements (β = 0.41, p < 0.05) and estimated fetal weight (β = 0.41, p < 0.05). Conversely, amniotic sHLA-G level and placental perfusion (VI: β = −0.34, p < 0.01 and VFI: β = −0.44, p < 0.01, respectively) were negatively correlated. A low amniotic sHLA-G level was significantly associated with nuchal translucency (r = −0.102, p < 0.05). Conclusions: sHLA-G assayed in amniotic fluid might be a potential indicator of placental function, whereas the sHLA-G level in serum can be a prognostic factor for feto-placental insufficiency.

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Section: Discussionsupporting

confidence: 89%

How the Soluble Human Leukocyte Antigen-G levels in Amniotic Fluid and Maternal Serum Correlate with the Feto-Placental Growth in Uncomplicated Pregnancies

Vincze,

Sikovanyecz,

Földesi

et al. 2024

Bioengineering

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“…This figure is comparable to the 81% reported in a previous study conducted in the Netherlands [18]. There are many recent studies showing that enlarged NT is associated with adverse pregnancy outcomes [19][20][21]. These findings highlight the importance of close surveillance of pregnancy with enlarged NT and anormal karyotype.…”

Section: Discussionsupporting

confidence: 82%

Perinatal Outcomes in Foetuses with Increased Nuchal Translucency and Normal Karyotype: A Retrospective Cohort Study from the United Arab Emirates

Khair,

Hilary,

Al Awar

et al. 2023

JCM

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This retrospective case-controlled study analysed the outcome of pregnancies with first-trimester enlarged nuchal translucency (NT) and a normal karyotype. A total of 479 pregnancies with first-trimester NT measurements were grouped as control (370 cases; normal NT) and study (109 cases; enlarged NT, ≥95th percentile; with normal karyotype). Adverse outcomes included miscarriage, intrauterine foetal death, termination of pregnancy, neonatal death, and structural/chromosomal/genetic abnormalities. The study was conducted between June 2016 and June 2022 at the Foetal Maternal Unit of Kanad Hospital, UAE. Overall, the live birth rate in the study group was significantly lower (74.3%) compared to the control (94.1%, p < 0.001). All pregnancy outcomes of this group significantly differed compared to the control. The observed miscarriage level was 9.2% (vs. 1.1%, p < 0.001), intrauterine foetal death was 2.8% (vs. 0%, p = 0.001), spontaneous preterm birthwas 11% (vs. 4.9%, p = 0.020), and termination of pregnancy was 3.7% (vs. 0%, p < 0.001). The presence of foetal abnormalities was also significantly higher in the enlarged NT group at 21% (vs. 3.3%, p < 0.001). Results indicate that enlarged NT is associated with adverse pregnancy outcomes even when the karyotype is normal. Based on these results, a comprehensive review of the guidelines for counselling and managing pregnancies with enlarged NT and a normal karyotype is recommended.

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Array Comparative Genomic Hybridization (aCGH) Results among Patients Referred to Invasive Prenatal Testing after First-Trimester Screening: A Comprehensive Cohort Study

Wójtowicz,

Kowalczyk,

Szewczyk

et al. 2024

Diagnostics

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Introduction: Invasive prenatal testing with chromosomal microarray analysis after first-trimester screening is a relevant option but there is still debate regarding the indications. Therefore, we evaluated the prevalence of numerical chromosomal aberrations detected by classic karyotype and clinically relevant copy number variants (CNVs) in prenatal samples using array comparative genomic hybridization (aCGH) stratified to NT thickness: <the 95th percentile, the 95th percentile–2.9 mm, 3.0–3.4 mm, 3.5–3.9 mm, 4.0–4.5 mm, and >4.5 mm, and by the presence/absence of associated structural anomalies detected by ultrasonography. Materials and Methods: Retrospective cohort study carried out at two tertiary Polish centers for prenatal diagnosis (national healthcare system) in central and south regions from January 2018 to December 2021. A total of 1746 prenatal samples were received. Indications for invasive prenatal testing included high risk of Down syndrome in the first-trimester combined test (n = 1484) and advanced maternal age (n = 69), and, in 193 cases, other reasons, such as parental request, family history of congenital defects, and genetic mutation carrier, were given. DNA was extracted directly from amniotic fluid (n = 1582) cells and chorionic villus samples (n = 164), and examined with classic karyotype and aCGH. Results: Of the entire cohort of 1746 fetuses, classical karyotype revealed numerical chromosomal aberrations in 334 fetuses (19.1%), and aCGH detected CNV in 5% (n = 87). The frequency of numerical chromosomal aberrations increased with NT thickness from 5.9% for fetuses with NT < p95th to 43.3% for those with NT > 4.5 mm. The highest rate of numerical aberrations was observed in fetuses with NT > 4.5 mm having at least one structural anomaly (50.2%). CNVs stratified by NT thickness were detected in 2.9%, 2.9%, 3.5%, 4.3%, 12.2%, and 9.0% of fetuses with NT < 95th percentile, 95th percentile–2.9 mm, 3.0–3.4 mm, 3.5–3.9 mm, 4.0–4.5 mm, and >4.5 mm, respectively. After exclusion of fetuses with structural anomalies and numerical aberrations, aCGH revealed CNVs in 2.0% of fetuses with NT < 95th percentile, 1.5% with NTp95–2.9 mm, 1.3% with NT 3.0–3.4 mm, 5.4% with NT 3.5–3.9 mm, 19.0% with NT 4.0–4.5 mm, and 14.8% with NT > 4.5 mm. Conclusions: In conclusion, our study indicates that performing aCGH in samples referred to invasive prenatal testing after first-trimester screening provides additional clinically valuable information over conventional karyotyping, even in cases with normal NT and anatomy.

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Increased nuchal translucency with normal karyotype and genomic microarray analysis: A multicenter observational study

Cited by 3 publications

References 22 publications

How the Soluble Human Leukocyte Antigen-G levels in Amniotic Fluid and Maternal Serum Correlate with the Feto-Placental Growth in Uncomplicated Pregnancies

How the Soluble Human Leukocyte Antigen-G levels in Amniotic Fluid and Maternal Serum Correlate with the Feto-Placental Growth in Uncomplicated Pregnancies

Perinatal Outcomes in Foetuses with Increased Nuchal Translucency and Normal Karyotype: A Retrospective Cohort Study from the United Arab Emirates

Array Comparative Genomic Hybridization (aCGH) Results among Patients Referred to Invasive Prenatal Testing after First-Trimester Screening: A Comprehensive Cohort Study

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