Nuchal Translucency: Useful First Trimester Sonographic Marker in Screening for Chromosomal and Congenital anomalies

Objectives: to analyze the characteristics of blood flow in the ductus venosus of fetus with congenital anomalies diagnosed during the first trimester. Materials: 20 821 first trimester pregnant women have been examined during the last 3 years. 82 fetuses have been diagnosed with congenital anomalies. In 74 out of 82 cases assessment of blood flow took place. A comparative analysis of the following parameters has been carried out: characteristics of blood flow in the ductus venosus of fetus with multiple and isolated congenital anomalies, normal nuchal translucency and expanded nuchal translucency, isolated and concomitant development anomalies of the heart and major vessels, normal and anomalous karyotype. Results: anomalous blood flow in the ductus venosus was recorded in 40 % of the fetuses with congenital anomalies – the highest in the group of fetus with multiple congenital anomalies in combination with the expanded nuchal translucency and chromosomal abnormalities – 60 %, in the group of fetus with Edwards syndrome – 90 %. Conclusion: the recording of abnormal blood flow in the ductus venosus of a fetus should be an indication for an expanded anatomical assessment of the fetus and ultrasound monitoring, as sensitive markers of fetal anomalies and chromosomal abnormalities.

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First trimester ultrasound screening for trisomy 21 based on maternal age, fetal nuchal translucency and different combinations of the additional markers nasal bone, tricuspid and ductus venosus flow

Ultraschall in der Medizin - European Journal of Ultrasound ◽

10.1055/s-0035-1558776 ◽

2015 ◽

Vol 36 (S 01) ◽

Author(s):

KO Kagan ◽

M Hoopmann ◽

P Wagner ◽

H Abele

Keyword(s):

Trisomy 21 ◽

Maternal Age ◽

Nasal Bone ◽

First Trimester ◽

Nuchal Translucency ◽

Ductus Venosus ◽

Ultrasound Screening ◽

First Trimester Ultrasound

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Association between Genetic Variants in NOS2 and TNF Genes with Congenital Zika Syndrome and Severe Microcephaly

Viruses ◽

10.3390/v13020325 ◽

2021 ◽

Vol 13 (2) ◽

pp. 325

Author(s):

Julia A. Gomes ◽

Eduarda Sgarioni ◽

Juliano A. Boquett ◽

Ana Cláudia P. Terças-Trettel ◽

Juliana H. da Silva ◽

...

Keyword(s):

Risk Factors ◽

Zika Virus ◽

Genetic Variants ◽

Educational Level ◽

Congenital Anomalies ◽

Family Income ◽

First Trimester ◽

In Utero ◽

Zikv Infection ◽

Congenital Zika Syndrome

Zika virus (ZIKV) causes Congenital Zika Syndrome (CZS) in individuals exposed prenatally. Here, we investigated polymorphisms in VEGFA, PTGS2, NOS3, TNF, and NOS2 genes as risk factors to CZS. Forty children with CZS and forty-eight children who were in utero exposed to ZIKV infection, but born without congenital anomalies, were evaluated. Children with CZS were predominantly infected by ZIKV in the first trimester (p < 0.001) and had mothers with lower educational level (p < 0.001) and family income (p < 0.001). We found higher risk of CZS due the allele rs2297518[A] of NOS2 (OR = 2.28, CI 95% 1.17–4.50, p = 0.015). T allele and TT/CT genotypes of the TNF rs1799724 and haplotypes associated with higher expression of TNF were more prevalent in children with CZS and severe microcephaly (p = 0.029, p = 0.041 and p = 0.030, respectively). Our findings showed higher risk of CZS due ZIKV infection in the first trimester and suggested that polymorphisms in NOS2 and TNF genes affect the risk of CZS and severe microcephaly.

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First-trimester presentation of ultrasound findings in trisomy 13 and validation of multiparameter ultrasound-based risk calculation models to detect trisomy 13 in the late first trimester

Journal of Perinatal Medicine ◽

10.1515/jpm-2020-0383 ◽

2020 ◽

Vol 0 (0) ◽

Author(s):

Bartosz Rajs ◽

Agnieszka Nocuń ◽

Anna Matyszkiewicz ◽

Marcin Pasternok ◽

Michał Kołodziejski ◽

...

Keyword(s):

Heart Defects ◽

False Positive Rate ◽

Nasal Bone ◽

First Trimester ◽

Nuchal Translucency ◽

Trisomy 13 ◽

Ductus Venosus ◽

Patau Syndrome ◽

A Prospective Study ◽

Cns Anomalies

AbstractObjectivesTo identify the most common ultrasound patterns of markers and anomalies associated with Patau syndrome (PS), to explore the efficacy of multiparameter sonographic protocols in detecting trisomy 13 (T13) and to analyze the influence of maternal age (MA) on screening performance. Methods: The project was a prospective study based on singleton pregnancies referred for a first-trimester screening examination. The scan protocol included nuchal translucency (NT), fetal heart rate (FHR), secondary ultrasound markers [nasal bone (NB), tricuspid regurgitation (TR), ductus venosus reversed a-wave (revDV)] and major anomaly findings. Results: The study population comprised 6133 pregnancies: 6077 cases of euploidy and 56 cases of T13. Statistically significant differences were found in MA, FHR, NT, absence of NB, presence of revDV, TR and single umbilical artery. Fourteen cases of T13 (25%) demonstrated no markers of aneuploidy. The best general detection rate (DR) (DR of 78.6% with an false positive rate (FPR) of 1.2%) was obtained for a cutoff of 1/300 utilizing the “NT+T13” algorithm. The logistic regression model revealed that the central nervous system (CNS) anomalies had the greatest odds ratio (of 205.4) for T13. Conclusions: The effectiveness of the multiparameter sonographic protocol used for T13 screening showed promising results in patients older than 36 years and suboptimal results in patients between 26 and 36 years old. When screening for T13 left heart defects, CNS anomalies, abdominal anomalies, FHR above the 95th percentile, increased NT, revDV and lack of NB should receive specific attention.

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P04.06: 3D assessment of the nuchal translucency and the fetal anatomy in the first trimester of pregnanacy

Ultrasound in Obstetrics and Gynecology ◽

10.1002/uog.8350 ◽

2010 ◽

Vol 36 (S1) ◽

pp. 181-181

Author(s):

P. K. Hiridis ◽

M. Theodora ◽

E. Anastasakis ◽

K. Blanas ◽

G. Daskalakis ◽

...

Keyword(s):

First Trimester ◽

Nuchal Translucency

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Can increased nuchal translucency in the first trimester of pregnancy predict gestational diabetes mellitus

Journal of Obstetrics and Gynaecology ◽

10.1080/01443610500231518 ◽

2005 ◽

Vol 25 (6) ◽

pp. 579-582 ◽

Cited By ~ 17

Author(s):

S. Kelekci ◽

B. Yilmaz ◽

K. Savan ◽

S. Sonmez

Keyword(s):

Diabetes Mellitus ◽

Gestational Diabetes ◽

Gestational Diabetes Mellitus ◽

First Trimester ◽

Nuchal Translucency ◽

First Trimester Of Pregnancy ◽

Increased Nuchal Translucency

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Investigation of Metronidazole Use during Pregnancy and Adverse Birth Outcomes

Antimicrobial Agents and Chemotherapy ◽

10.1128/aac.06477-11 ◽

2012 ◽

Vol 56 (9) ◽

pp. 4800-4805 ◽

Cited By ~ 46

Author(s):

Catherine A. Koss ◽

Dana C. Baras ◽

Sandra D. Lane ◽

Richard Aubry ◽

Michele Marcus ◽

...

Keyword(s):

New York ◽

Birth Weight ◽

Preterm Birth ◽

Low Birth Weight ◽

Congenital Anomalies ◽

New York State ◽

Multivariable Analysis ◽

Preterm Births ◽

First Trimester ◽

First Trimester Of Pregnancy

ABSTRACTTo assess whether treatment with metronidazole during pregnancy is associated with preterm birth, low birth weight, or major congenital anomalies, we conducted chart reviews and an analysis of electronic data from a cohort of women delivering at an urban New York State hospital. Of 2,829 singleton/mother pairs, 922 (32.6%) mothers were treated with metronidazole for clinical indications, 348 (12.3%) during the first trimester of pregnancy and 553 (19.5%) in the second or third trimester. There were 333 (11.8%) preterm births, 262 (9.3%) infants of low birth weight, and 52 infants (1.8%) with congenital anomalies. In multivariable analysis, no association was found between metronidazole treatment and preterm birth (odds ratio [OR], 1.02 [95% confidence interval [CI], 0.80 to 1.32]), low birth weight (OR, 1.05 [95% CI, 0.77 to 1.43]), or treatment in the first trimester and congenital anomalies (OR, 0.86 [0.30 to 2.45]). We found no association between metronidazole treatment during the first or later trimesters of pregnancy and preterm birth, low birth weight, or congenital anomalies.

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