Prenatal Diagnosis of Low-set Ears with Asymmetrical Microtia in the First Trimester

ABSTRACT Initially, the external ears are in the lower neck region, but with the development of the mandible, they ascend to the side of the head at the level of the eyes. Low-set ear is one of the features often associated with genetic disorders, and external ear defects are significant because they are often associated with other malformations. The problem may occur as a symmetrical condition but an asymmetrical condition is not rare, in which one side of the face is maldeveloped. This defect varies in severity; however, it always includes maldevelopment of the ear and the mandible. Recent advanced 3D HDlive ultrasound enables us to demonstrate fetal external ear position and development even as early as in the first trimester. The picture of the month clearly demonstrated low-set ears with asymmetrical development of the ear and face at 12 weeks of gestation. Early detection of ear abnormality leads to further genetic and morphologic investigation as well as to proper management and counseling. How to cite this article Pooh RK. Prenatal Diagnosis of Low-set Ears with Asymmetrical Microtia in the First Trimester. Donald School J Ultrasound Obstet Gynecol 2016;10(2):111-112.

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Chorionic villus samplingElias S, Simpson J, Martin A, et al: Chorionic villus sampling for first-trimester prenatal diagnosis: Northwestern University program. Am J Obstet Gynecol 152:204, 1985

Journal of Nurse-Midwifery ◽

10.1016/0091-2182(85)90178-8 ◽

1985 ◽

Vol 30 (6) ◽

pp. 349-350

Keyword(s):

Prenatal Diagnosis ◽

Obstet Gynecol ◽

Chorionic Villus ◽

First Trimester ◽

Chorionic Villus Sampling ◽

Northwestern University

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Invasive Prenatal Diagnosis: Chorionic Villus Sampling

Donald School Journal of Ultrasound in Obstetrics & Gynecology ◽

10.5005/jp-journals-10009-1416 ◽

2015 ◽

Vol 9 (3) ◽

pp. 293-306

Author(s):

Panos Antsaklis ◽

Aris Antsaklis ◽

Michael Sindos ◽

Fotodotis M Malamas

Keyword(s):

Prenatal Diagnosis ◽

Obstet Gynecol ◽

Genetic Material ◽

Chorionic Villus ◽

First Trimester ◽

Chorionic Villus Sampling ◽

Maternal Circulation ◽

Maternal Cell ◽

Non Invasive ◽

Limb Reduction

ABSTRACT Chorionic villus sampling (CVS) is the method of choice for first trimester invasive prenatal diagnosis. In expert hands, it is nowadays considered as safe as amniocentesis and has the advantage of an earlier diagnosis. In this review, we describe the technique of the procedure, its indications and contraindications and the requirements concerning adequate training and optimum clinical practice. We also discuss issues concerning the safety of the procedure in singleton and multiple pregnancies, other complications and controversies, such as the association with limb reduction defects and pre-eclampsia, as well as diagnostic problems and dilemmas, such as maternal cell contamination and confined placental mosaicism. We also describe new and promising methods of non-invasive diagnosis, based on the isolation and analysis of fetal cells or cell-free fetal genetic material from the maternal circulation, that aim to replace the invasive methods of prenatal diagnosis in the future. How to cite this article Sindos M, Malamas FM, Antsaklis P, Antsaklis A. Invasive Prenatal Diagnosis: Chorionic Villus Sampling. Donald School J Ultrasound Obstet Gynecol 2015; 9(3):293-306.

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Clinical and Dermoscopic Features of Melanocytic Lesions on the Face Versus the External Ear

Dermatology Practical & Conceptual ◽

10.5826/dpc.1104a124 ◽

2021 ◽

pp. e2021124

Author(s):

Teresa Deinlein ◽

Andreas Blum ◽

Günter Schulter ◽

Holger A. Haenssle ◽

Ralph Braun ◽

...

Keyword(s):

Retrospective Study ◽

Head And Neck ◽

Neck Region ◽

Rare Condition ◽

Image Database ◽

External Ear ◽

Head And Neck Region ◽

Melanocytic Lesions ◽

The Face

Introduction: Melanoma of the external ear is a rare condition accounting for 7-20% of all melanomas of the head and neck region. They present classical features of extra-facial melanomas clinically and dermoscopically. In contrast, facial melanomas show peculiar patterns in dermoscopy. Objectives: We evaluate whether there are clinical and/or dermoscopic differences in melanocytic lesions located either at the external ear or on the face. Methods: In this retrospective study we reviewed an image database for clinical and dermoscopic images of melanomas and nevi located either on the face or at the level of the external ear. Results: 65 patients (37 men; 63.8%) with 65 lesions were included. We found no significant differences in comparing face melanomas with melanomas at the level of the external ear, neither clinically nor dermoscopically. However, we provided evidence for differences in some clinical and dermoscopic features of melanomas and nevi of the external ear. Conclusions: In this study, we reported no significant differences in comparing melanomas on the face with melanomas of the external ear, both clinically and dermoscopically. Furthermore, we provided data on clinical and dermoscopic differences comparing nevi and melanoma of the external ear.

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HDlive and Three-Dimensional Imaging in Prenatal Diagnosis of Sirenomelia in the First Trimester: A Case Report and Brief Review of the Literature

Donald School Journal of Ultrasound in Obstetrics & Gynecology ◽

10.5005/jp-journals-10009-1405 ◽

2015 ◽

Vol 9 (2) ◽

pp. 193-196

Author(s):

Francisco Raga ◽

Oscar Caballero ◽

Francisco Bonilla ◽

Fernando Bonilla-Musoles ◽

Juan Carlos Castillo

Keyword(s):

Case Report ◽

Prenatal Diagnosis ◽

3D Imaging ◽

Obstet Gynecol ◽

New Technologies ◽

Three Dimensional ◽

First Trimester ◽

Review Of The Literature ◽

Three Dimensional Imaging ◽

Realistic Images

ABSTRACT Herein a case of sirenomelia diagnosed in week 12 by using HDlive and three-dimensional (3D) imaging. These new technologies allowed for an early diagnosis and also depicting realistic images. How to cite this article Bonilla-Musoles F, Caballero O, Castillo JC, Bonilla F Jr, Raga F. HDlive and Three-Dimensional Imaging in Prenatal Diagnosis of Sirenomelia in the First Trimester: A Case Report and Brief Review of the Literature. Donald School J Ultrasound Obstet Gynecol 2015;9(2):193-196.

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Advances in Prenatal Diagnosis Social–Psychological and Policy Issues

International Journal of Technology Assessment in Health Care ◽

10.1017/s0266462300008485 ◽

1989 ◽

Vol 5 (4) ◽

pp. 601-617 ◽

Cited By ~ 13

Author(s):

Aliza Kolker

Keyword(s):

Prenatal Diagnosis ◽

Genetic Disorders ◽

Chorionic Villus ◽

Well Being ◽

First Trimester ◽

Subjective Assessment ◽

Policy Implications ◽

Chorionic Villus Sampling ◽

Negative Findings ◽

A New Technique

Chorionic villus sampling (CVS), a new technique for prenatally diagnosing chromosomal and genetic disorders, may soon replace amniocentesis. This procedure, performed by inserting a catheter through the pregnant woman's cervix or through the abdomen and removing cells from the placenta, has the advantages of being available earlier in the pregnancy than amniocentesis (at 9 to 11 weeks gestational age) and of yielding results in a shorter time. Although the medical aspects of the procedure are being investigated, its psychosocial and policy implications have not been studied systematically. These issues include the subjective assessment of risk that prompts women to choose or to reject CVS, the implications of earlier diagnosis for feelings about abortion, the potential of negative findings (i.e., the absence of the designated disorder) for well-being during the remainder of the pregnancy, the ramifications of first trimester identification of fetal sex, equity of access to prenatal diagnosis, and the possible over- utilization of these procedures. Drawing on previous research regarding amniocentesis and more recent research concerning CVS, this article discusses the potential implications of CVS.

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Prenatal diagnosis of epignatus with invasion of the face and neck area

10.21516/2413-1458-2020-19-4-366-369 ◽

2020 ◽

Author(s):

O.I. Guseva , S.A. Chugunova , N.Y. Polovinkina et all

Keyword(s):

Prenatal Diagnosis ◽

Premature Birth ◽

Neck Region ◽

Breech Presentation ◽

Prenatal Ultrasound ◽

Ultrasound Diagnosis ◽

Male Fetus ◽

Neck Area ◽

The Face

A case of prenatal ultrasound diagnosis of epignathus with sprouting on the face and neck area is presented. Teratoma in the neck region diagnosed at 20 weeks, epignathus — at 30–31 weeks of gestation. Pregnancy was complicated by the development of pronounced polyhydramnios. At 31 weeks of gestation premature birth occurred in the breech presentation of a dead male fetus. The diagnosis was confirmed after birth.

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Technologies for Prenatal Diagnosis and Assessment of Genetic Disorders

10.3389/978-2-88963-739-3 ◽

2020 ◽

Keyword(s):

Prenatal Diagnosis ◽

Genetic Disorders

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Infantile haemangioma: 5-year experience at the vascular anomaly clinic

Egyptian Pediatric Association Gazette ◽

10.1186/s43054-021-00062-2 ◽

2021 ◽

Vol 69 (1) ◽

Author(s):

Amr Abdelhamid AbouZeid ◽

Iman A. Ragab ◽

Shaimaa Abdelsattar Mohammad ◽

Wael Ahmed Ghanem ◽

Haytham Mohamed Nasser ◽

...

Keyword(s):

Neck Region ◽

Vascular Anomaly ◽

Paediatric Population ◽

Favourable Outcome ◽

Tumour Regression ◽

Main Body ◽

Female Predominance ◽

The Face ◽

Spontaneous Involution ◽

Infantile Haemangiomas

Abstract Background Infantile haemangiomas (IH) represent a common benign vascular tumour affecting the paediatric population. Infantile haemangiomas are characterised by a natural history differentiating it from other vascular anomalies. After a transient proliferative phase in early infancy, the tumour passes through a plateau phase before going into spontaneous involution. In this report, we tried to share our experience over the last 5 years in managing cases presenting with IH at a specialised vascular anomaly clinic. Main body of abstract This report included cases of IH who were attending the vascular anomaly clinic during the period 2015 through 2019. Data of all patients attending the clinic were retrospectively examined. Files of 103 cases with IH were available for review. The diagnosis of IH was usually straight forward owing to the typical history and characteristic findings at clinical examination. A significant female predominance was noticed. Generally, IH were more common in the head and neck region (70%). Active intervention was necessary in specific situations (eye occlusion, airway involvement, large lesions with skin ulcerations). Whenever intervention proved to be necessary, propranolol was chosen as the first line of treatment with a favourable response detected in about 90% of cases. Surgery was still a valid option (6%) for lesions amenable to resection; however, we must put in consideration that most lesions will spontaneously regress. Conclusion Infantile haemangiomas are common benign vascular tumours of infancy with relatively few complications. Cosmesis is a major concern especially for lesions affecting the face. Propranolol can induce tumour regression in most cases, and generally, a favourable outcome can be anticipated.

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