scholarly journals Pathology of the Fetal Neck

2012 ◽  
Vol 6 (1) ◽  
pp. 55-65
Author(s):  
Mona Zvanca ◽  
Cristian Andrei ◽  
Radu Vladareanu
Keyword(s):  
Thyroid Gland ◽  
Thyroid Function ◽  
Neural Tube ◽  
First Trimester ◽  
Nuchal Translucency ◽  
Point Of View ◽  
Antithyroid Drugs ◽  
Fetal Goiter ◽  
Fetal Thyroid ◽  
Structural Anomalies

ABSTRACT Fetal neck is the site of important pathological changes, related to genetic, cardiovascular, lymphatic, endocrine systems. Among the main neck pathology are fetal hygroma, goiter, teratoma/sarcoma, hemangioma/lymphangioma. Posterior anomalies of the fetal neural tube, such as occipital myelomeningocele or iniencephaly may also be included in this area. Fetal hygroma is the main pathology, probably related to abnormal development of the lymphatic drainage system. There is a large spectrum of the disease, from enlarged nuchal translucency to generalized edema. Enlarged nuchal translucency is often associated with aneuploidy, particularly trisomy 21 and Turner syndrome (monosomy X). However, the pathophysiology is different for the two aneuploidies. On the diagnostic side, cystic hygromas consist of large single or multilocular fluid-filled cavities, which are usually easily identified during first trimester ultrasound examination. About one-third of euploid fetuses with first trimester septated cystic hygromas have major structural anomalies. In contrast, structural anomalies are detected in only 4 to 10% of euploid fetuses with enlarged nuchal translucency. Enlargement of fetal thyroid gland is accompanied by increased or decreased level of thyroid hormones (hyper or hypothyroidism), but the thyroid function may also be normal. The physiopathology of fetal and neonatal goiter is complex. Causes of fetal goiter include inborn errors of thyroid hormone production, transplacental passage of maternal antibodies, maternal ingestion of antithyroid drugs and other goitrogens, thyroid tumors. Detection of the fetal goiter is facilitated by the associated maternal history, present in most of the cases. By definition, goiter means enlargement of the thyroid gland above the 95th centile of the normal range. Reliable and objective data about fetal thyroid function involves an invasive testing. Teratomas are large mixed tumors arising from the neck region. Teratomas are cystic, semicystic or solid tumors. They develop from all three germ cell layers. Cervical teratomas are detected antenatally in most cases, as they are large size tumors. Hemangiomas and lymphangiomas are tumors derived from the endothelial tissue of blood vessels or lymphatic vessels. They may develop anywhere in the body, but in the antenatal life and the first years they show a predisposition for the head, neck and axillar area. Regarding the occipital encephalocele and iniencephaly, even though they represent major anomalies that affect he cervical and cephalic area, from a developmental point of view they are part of the neural tube defects spectrum and should be considered as such especially from a prognosis point of view. How to cite this article Vladareanu R, Zvanca M, Andrei C. Pathology of the Fetal Neck. Donald School J Ultrasound Obstet Gynecol 2012;6(1):55-65.

scholarly journals Management of Graves’ Disease during Pregnancy: The Key Role of Fetal Thyroid Gland Monitoring

2005 ◽  
Vol 90 (11) ◽  
pp. 6093-6098 ◽  
Author(s):  
Dominique Luton ◽  
Isabelle Le Gac ◽  
Edith Vuillard ◽  
Mireille Castanet ◽  
Jean Guibourdenche ◽  
...  
Keyword(s):  
Thyroid Gland ◽  
Thyroid Function ◽  
Thyroid Dysfunction ◽  
Tsh Receptor ◽  
Antithyroid Drugs ◽  
Graves Disease ◽  
Test Results ◽  
Bone Maturation ◽  
Normal Test ◽  
Fetal Thyroid

Abstract Background: Fetuses from mothers with Graves’ disease may experience hypothyroidism or hyperthyroidism due to transplacental transfer of antithyroid drugs (ATD) or anti-TSH receptor antibodies, respectively. Little is known about the fetal consequences. Early diagnosis is essential to successful management. We investigated a new approach to the fetal diagnosis of thyroid dysfunction and validated the usefulness of fetal thyroid ultrasonograms. Methods: Seventy-two mothers with past or present Graves’ disease and their fetuses were monitored monthly from 22 wk gestation. Fetal thyroid size and Doppler signals, and fetal bone maturation were determined on ultrasonograms, and thyroid function was evaluated at birth. Thyroid function and ATD dosage were monitored in the mothers. Results: The 31 fetuses whose mothers were anti-TSH receptor antibody negative and took no ATDs during late pregnancy had normal test results. Of the 41 other fetuses, 30 had normal test results at 32 wk, 29 were euthyroid at birth, and one had moderate hypothyroidism on cord blood tests. In the remaining 11 fetuses, goiter was visualized by ultrasonography at 32 wk, and fetal thyroid dysfunction was diagnosed and treated; there was one death, in a late referral, and 10 good outcomes with normal or slightly altered thyroid function at birth. The sensitivity and specificity of fetal thyroid ultrasound at 32 wk for the diagnosis of clinically relevant fetal thyroid dysfunction were 92 and 100%, respectively. Conclusion: In pregnant women with past or current Graves’ disease, ultrasonography of the fetal thyroid gland by an experienced ultrasonographer is an excellent diagnostic tool. This tool in conjunction with close teamwork among internists, endocrinologists, obstetricians, echographists, and pediatricians can ensure normal fetal thyroid function.

scholarly journals Prenatal Detection of Fetal Anomalies at the 11- to 13-Week Scan—Part I: Brain, Face and Neck

2013 ◽  
Vol 7 (4) ◽  
pp. 359-368 ◽  
Author(s):  
Tamara Illescas ◽  
Waldo Sepulveda ◽  
Begona Adiego ◽  
Pilar Martinez-Ten
Keyword(s):  
Fetal Brain ◽  
First Trimester ◽  
Nuchal Translucency ◽  
Ultrasound Screening ◽  
Second Trimester ◽  
Fetal Anomalies ◽  
Prenatal Detection ◽  
Ultrasound Findings ◽  
First Trimester Of Pregnancy ◽  
Structural Anomalies

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.

scholarly journals Intracranial Translucency, Its Use as a Potential First Trimester Ultrasound Marker for Screening of Neural Tube Defects

Diagnostics ◽  
2020 ◽  
Vol 10 (11) ◽  
pp. 986
Author(s):  
Gerardo Sepúlveda-González ◽  
Tayde Arroyo-Lemarroy ◽  
David Basurto ◽  
Ivan Davila ◽  
Esteban Lizárraga-Cepeda ◽  
...  
Keyword(s):  
Neural Tube ◽  
Neural Tube Defects ◽  
Nasal Bone ◽  
Case Series ◽  
First Trimester ◽  
Nuchal Translucency ◽  
Fetal Head ◽  
Intracranial Translucency ◽  
Spina Bifida Aperta ◽  
First Trimester Ultrasound

The objective of the study was to describe a case-series of neural tube defects (NTD) with an abnormal intracranial translucency (IT) detected during the first-trimester ultrasound scan, performed on a low-risk obstetric population in Mexico. Certified Fetal Medicine specialists performed all US scans; the IT was assessed using the mid-sagittal view of the fetal head, which is already systematically used for nuchal translucency and nasal bone evaluation. During the study, we were able to find that eight fetuses had an absence of the intracranial translucency, out of which two were reassessed at 14 weeks′ gestation and IT was normal, six of them were later diagnosed to have an NTD that consisted in spina bifida aperta (n = 5) and encephalocele (n = 1). Conclusion: As previous studies have shown, IT evaluation during the first-trimester US routine scan may be a useful screening marker for early detection of NTDs.

Is MSAFP Still a Useful Test for Detecting Open Neural Tube Defects and Ventral Wall Defects in the Era of First-Trimester and Early Second-Trimester Fetal Anatomical Ultrasounds?

2014 ◽  
Vol 37 (3) ◽  
pp. 206-210 ◽  
Author(s):  
Ashley S. Roman ◽  
Simi Gupta ◽  
Nathan S. Fox ◽  
Daniel Saltzman ◽  
Chad K. Klauser ◽  
...  
Keyword(s):  
Neural Tube ◽  
Neural Tube Defects ◽  
Gestational Age ◽  
First Trimester ◽  
Nuchal Translucency ◽  
Maternal Serum ◽  
Fisher Exact Test ◽  
Ultrasound Screening ◽  
Second Trimester ◽  
Ventral Wall

Introduction: To evaluate whether maternal serum α-fetoprotein (MSAFP) improves the detection rate for open neural tube defects (ONTDs) and ventral wall defects (VWD) in patients undergoing first-trimester and early second-trimester fetal anatomical survey. Material and Methods: A cohort of women undergoing screening between 2005 and 2012 was identified. All patients were offered an ultrasound at between 11 weeks and 13 weeks and 6 days of gestational age for nuchal translucency/fetal anatomy followed by an early second-trimester ultrasound at between 15 weeks and 17 weeks and 6 days of gestational age for fetal anatomy and MSAFP screening. All cases of ONTD and VWD were identified via query of billing and reporting software. Sensitivity and specificity for detection of ONTD/VWD were calculated, and groups were compared using the Fisher exact test, with p < 0.05 as significance. Results: A total of 23,790 women met the criteria for inclusion. Overall, 15 cases of ONTD and 17 cases of VWD were identified; 100% of cases were diagnosed by ultrasound prior to 18 weeks' gestation; none were diagnosed via MSAFP screening (p < 0.001). First-trimester and early second-trimester ultrasound had 100% sensitivity and 100% specificity for diagnosing ONTD/VWD. Discussion: Ultrasound for fetal anatomy during the first and early second trimester detected 100% of ONTD/VWD in our population. MSAFP is not useful as a screening tool for ONTD and VWD in the setting of this ultrasound screening protocol.

scholarly journals The Effect of Thyrotropin-Releasing Hormone and Antithyroid Drugs on Fetal Thyroid Function

Children ◽  
2021 ◽  
Vol 8 (6) ◽  
pp. 454
Author(s):  
Nikolaos Vrachnis ◽  
Orestis Tsonis ◽  
Dionisios Vrachnis ◽  
Nikolaos Antonakopoulos ◽  
George Paltoglou ◽  
...  
Keyword(s):  
Thyroid Function ◽  
Thyroid Stimulating Hormone ◽  
Adverse Outcomes ◽  
Thyrotropin Releasing Hormone ◽  
Antithyroid Drugs ◽  
Releasing Hormone ◽  
Placental Site ◽  
Tsh Secretion ◽  
Fetal Thyroid ◽  
Trh Analogues

A euthyroid pregnant woman will normally have a fetus that displays normal fetal development. However, studies have long demonstrated the role of T3 (Triiodothyronine), T4 (Thyroxine), and TSH (Thyroid Stimulating Hormone) and their degree of penetrability into the fetal circulation. Maternal thyrotropin-releasing hormone (TRH) crosses the placental site and, from mid-gestation onward, is able to promote fetal TSH secretion. Its origin is not only hypothalamic, as was believed until recently. The maternal pancreas, and other extraneural and extrahypothalamic organs, can produce TRH variants, which are transported through the placenta affecting, to a degree, fetal thyroid function. Antithyroid drugs (ATDs) also cross the placenta and, because of their therapeutic actions, can affect fetal thyroid development, leading in some cases to adverse outcomes. Furthermore, there are a number of TRH analogues that share the same properties as the endogenous hormone. Thus, in this narrative review, we highlight the interaction of all the above with fetal growth in uncomplicated pregnancies.

Neck

2016 ◽  
Vol 10 (3) ◽  
pp. 256-270
Author(s):  
Costin Berceanu
Keyword(s):  
Treatment Options ◽  
Late Pregnancy ◽  
First Trimester ◽  
Cystic Hygroma ◽  
Neck Mass ◽  
Tracheobronchial Tree ◽  
High Association ◽  
Tertiary Center ◽  
Fetal Goiter ◽  
Fetal Thyroid

ABSTRACT Cystic hygroma (CH) is the most frequently seen fetal neck mass on the first-trimester ultrasound (US). Overall prognosis is poor with a high association with chromosomal and structural anomalies. When diagnosed prenatally, fetal karyotyping and detailed US evaluation should be offered. Prenatal and postnatal surgical or nonsurgical treatment options are available. Fetal goiter (FG) and fetal thyroid masses are rare fetal conditions and may occur as part of a hypothyroid, hyperthyroid, or euthyroid state. Screening for FGs should be carried out in pregnancies of mothers with thyroid disease. If a FG is detected, a detailed US examination should be performed. Congenital high airway obstruction syndrome (CHAOS) is characterized by bilaterally enlarged lungs, flat or inverted diaphragms, dilated tracheobronchial tree, and massive ascites. It is usually a lethal abnormality. Fetuses with suspected CHAOS should be referred to a fetal medicine center able to perform ex utero intrapartum treatment (EXIT) delivery. Neck teratomas are associated with high mortality rates. Prenatal US diagnosis of cervical teratoma can be made at 15 and 16 weeks of gestation. Planning of delivery in a tertiary center allows the performance of EXIT. Lymphangioma of the neck usually diagnosed in late pregnancy could be traditionally referred to as CH, but there is a different prenatal history and outcome. How to cite this article Vladareanu R, Vladareanu S, Berceanu C. Neck. Donald School J Ultrasound Obstet Gynecol 2016;10(3): 256-270.

scholarly journals VP10.03: Fetal thyroid hypothyroidism diagnosed prenatally with an ultrasound score to predict thyroid function of fetal goiter

2020 ◽  
Vol 56 (S1) ◽  
pp. 88-88
Author(s):  
K. Maeda ◽  
T. Kaji ◽  
A. Hayahi ◽  
M. Yamasaki ◽  
A. Kondo ◽  
...  
Keyword(s):  
Thyroid Function ◽  
Fetal Goiter ◽  
Fetal Thyroid ◽  
Ultrasound Score

scholarly journals Clinical Utility of Increased Nuchal Translucency at 11-13 weeks of Gestation in Twin Pregnancies based on the Chorionicity

2020 ◽  
Author(s):  
Siwon Lee ◽  
Hyun-Mi Lee ◽  
You Jung Han ◽  
Moon Young Kim ◽  
Hye Yeon Boo ◽  
...  
Keyword(s):  
Pregnancy Outcomes ◽  
Odds Ratio ◽  
First Trimester ◽  
Nuchal Translucency ◽  
Adverse Pregnancy ◽  
Twin Pregnancies ◽  
First Trimester Ultrasound ◽  
Fetal Karyotype ◽  
Increased Nuchal Translucency ◽  
Structural Anomalies

Objectives: To assess clinical implications of increased nuchal translucency (INT) in twin pregnancies based on the chorionicity. Methods: This was a retrospective review of the twin pregnancies who underwent first trimester ultrasound with nuchal translucency (NT) measurement at 11-13 weeks of gestation from January 2006 to December 2014. Data were collected using the OB database and the chart review. Pregnancy outcomes including gestational weeks at the delivery, abnormal fetal karyotypes, fetal structural anomalies, twin specific complications were analyzed. Results: A total of 1,622 twin pregnancies with INT&ge;95th percentile in one or both fetuses were identified. In all twin pregnancies with INT, abnormal fetal karyotypes were identified in 17 (8.6%) patients (odds ratio=13.28, CI=5.990-29.447, P=0.000) and twin-specific complications were identified in 23 (11.6%) patients (odds ratio=2.398, CI=1.463-3.928, P=0.001) compared to those with normal NT. Among the INT group, when the groups were subdivided into monochorionic (MC) and dichorionic (DC) pregnancies, 14.8% and 29.6% of the MC pregnancies had structural anomalies in one or both fetuses (odds ratio=5.774, 95% CI=1.445-23.071, P=0.01) and twin-specific complications (odds ratio=4.379, 95% CI=1.641-11.684, P=0.03), respectively, compared to DC pregnancies. The prevalence of abnormal fetal karyotypes was not statistically different in patients with INT when compared between MC and DC pregnancies (P=0.329). Conclusions: INT was associated with a higher rate of twin-specific complications and fetal structural anomalies in MC twin pregnancies rather than abnormal fetal karyotype. Therefore, NT measurement in MC twin pregnancies can be a useful tool for prediction of adverse pregnancy outcomes. Appropriate counseling and surveillance based on the chorionicity is imperative in prenatal care of twin pregnancies.

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