Cystic hygroma in the first trimester of pregnancy. Diagnosis, prevalence and outcome of 42 cases in relation with nuchal translucency measurement

ABSTRACT In the last 20 years, the role of first-trimester ultrasound screening has expanded from individual calculation of the risk of aneuploidy through measurement of the nuchal translucency to a powerful technique to evaluate important aspects of the fetal anatomy. Traditionally, the full anatomy scan for detection of structural anomalies has been performed in the second trimester of pregnancy. However, with the implementation of the first-trimester scan at 11 to 13 weeks of gestation many of the structural anomalies traditionally detected in the second trimester can now be identified earlier in pregnancy. In the first part of this review we discuss the main ultrasound findings that may facilitate the prenatal detection of fetal brain, face and neck abnormalities in the first trimester of pregnancy. How to cite this article Sepulveda W, Illescas T, Adiego B, Martinez-Ten P. Prenatal Detection of Fetal Anomalies at the 11- to 13-Week Scan—Part I: Brain, Face and Neck. Donald School J Ultrasound Obstet Gynecol 2013;7(4):359-368.

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First-trimester screening for Down syndrome using nuchal translucency measurement with free β-hCG and PAPP-A between 10 and 13 weeks of pregnancy—the combined test

Prenatal Diagnosis ◽

10.1002/(sici)1097-0223(199904)19:4<360::aid-pd556>3.0.co;2-u ◽

1999 ◽

Vol 19 (4) ◽

pp. 360-363 ◽

Cited By ~ 76

Author(s):

P. De Biasio ◽

M. Siccardi ◽

G. Volpe ◽

L. Famularo ◽

F. Santi ◽

...

Keyword(s):

Down Syndrome ◽

First Trimester ◽

Nuchal Translucency ◽

First Trimester Screening ◽

Combined Test ◽

Trimester Screening ◽

Nuchal Translucency Measurement ◽

Β Hcg

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Cantrell syndrome in the first trimester of pregnancy: imagistic findings and literature review

Medical Ultrasonography ◽

10.11152/mu-2316 ◽

2020 ◽

Vol 22 (2) ◽

pp. 189 ◽

Cited By ~ 1

Author(s):

Mihaela Grigore ◽

Romeo Micu ◽

Roxana Matasariu ◽

Odetta Duma ◽

Anca Lucia Chicea ◽

...

Keyword(s):

Systematic Review ◽

Rare Condition ◽

First Trimester ◽

Nuchal Translucency ◽

Wall Region ◽

Pentalogy Of Cantrell ◽

Congenital Birth Defects ◽

First Trimester Of Pregnancy ◽

Us Findings ◽

Increased Nuchal Translucency

Pentalogy of Cantrell (POC) is a rare condition characterized by complete or partial expression of 5 types of congenital birth defects originating in (1) the lower sternum, (2) the anterior diaphragm, (3) the diaphragmatic pericardium, (4) the midline/ventral supraumbilical abdominal wall region, and (5) the heart. POC can be diagnosed antenatally by means of ultrasonography (US), the task being difficult if defects are minor. Advances in the field of US and the introduction of the first morphology trimester as state-of-the-art pregnancy monitoring, facilitate the early diagnosis of this condition. We performed a systematic review on 67 reported cases of POC diagnosed in the first trimester of pregnancy (published from January 1980 to July 2019). The aim of our systematic review was twofold: to assess the main US findings in the first trimester of pregnancy and to increase awareness of early diagnostic possibilities. Our study showed that POC can be diagnosed in the first trimesterof pregnancy based on key US findings such as the association between omphalocele and ectopia cordis. When these two anomalies are present, increased nuchal translucency can also be considered a marker of POC in the first trimester.

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EARLY FETAL HYDROPIC CHANGES ARE ASSOCIATED WITH MODERATE DILATATION OF THE BRAIN VENTRICULAR SYSTEM: A CLUE TO A POSSIBLE LINK BETWEEN CERVICAL LYMPHATIC ENGORGEMENT AND VENTRICULAR DILATATION?

Lymphology ◽

10.2458/lymph.4620 ◽

2019 ◽

Vol 52 (1) ◽

Author(s):

D Paladini ◽

G Donarini ◽

A Conti ◽

L Costanza De Angelis ◽

MH Witte ◽

...

Keyword(s):

Three Dimensional ◽

First Trimester ◽

Nuchal Translucency ◽

Cystic Hygroma ◽

Ventricular System ◽

Fetal Head ◽

Biparietal Diameter ◽

Inter Observer Variability ◽

Trimester Screening ◽

The One

The aim of this study is to assess whether early cervical lymphatic obstruction is associated with a sonographically detectable dilatation of the ventricular system in the 1st trimester of pregnancy. In particular, the objective is to assess whether fetuses with non-immune hydrops fetalis (NIHF), cystic hygroma, or enlarged nuchal translucency (NT) have a greater atrial width/biparietal diameter (AW/BPD) ratio than normal at time of the combined first trimester screening scan. This retrospective study included 96 first trimester fetuses (33 normal and 63 with various degree of cervical lymphatic engorgement). Inclusion criteria were CRL in the 45-84 mm range and availability of one or more three-dimensional volume datasets of the fetal head, acquired from the BPD plane. Each three-dimensional volume dataset was opened and multiplanar correlation employed to align the three orthogonal planes. The ratio between the atrial width and the BPD (AW/BPD ratio) was used to evaluate the possible presence of increased amount of cerebrospinal fluid. Abnormal cases were placed into 4 categories: 1)enlarged non-septated NT 2.5-3.9 mm, no hydrops; 2) grossly enlarged non-septated NT/ edema >3.9 mm; 3) cystic hygroma and/or NIHF; 4) major anomalies with NT <2.5 mm. Presence of dilatation of the latero-cervical jugular lymphatic sacs, karyotype and presence of congenital anomalies were also recorded. The One-way ANOVA test was used to compare means. Intra- and inter-observer variability were also assessed. The AW/BPD ratio was found to be significantly higher in fetuses with grossly enlarged NT/nuchal edema and NIHF/septated cystic hygroma than in normal (p <0.05 and p <0.01, respectively). Also, the AW/BPD ratio was significantly higher in NIHF/septated cystic hygroma than in enlarged NT 2.5-3.9 mm (p <0.05). In case of enlarged NT (2.5-3.9 mm), the AW/BPD ratio is significantly higher in presence of JLS (p <0.01). At the end of the first trimester, presence of cervical lymphatic engorgement, in terms of grossly enlarged NT, nuchaledema, septated cystic hygroma, and NIHF, is statistically associated with a moderate dilatation of the ventricular system. Of note, among fetuses with moderately enlarged NT, those with evidence of dilatation of the JLS show a statistically significant increase in the AW/BPD ratio.

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