Absent or hypoplastic thymus on ultrasound: a marker for deletion 22q11.2 in fetal cardiac defects

Chaoui, Rabih; Kalache, Karim; Heling, K. S.; Tennstedt, C.; Bommer, Christiane; Körner, H.

doi:10.1046/j.1469-0705.2002.00864.x

Cited by 115 publications

(94 citation statements)

References 31 publications

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“…There were also reported several genetic disorders associated with CAT, such as: DiGeorge syndrome in approximatively 40% of the cases [16][17][18][19][20][21], trisomies 21, 18, or 13 in 4.5% of the cases [22,23], or even rare cases of trisomy 8 [24]. In addition, extracardiac malformations, such as genito-urinary abnormalities were also described in over 40% of the cases [19,21,22].…”

Section: Discussionmentioning

confidence: 99%

Prenatal diagnosis of the fetal common arterial trunk. A case series

Mărginean¹,

Gozar

Mărginean

et al. 2018

Med Ultrason

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Fetal common arterial trunk is an anomaly represented by a unique arterial trunk that arouses from the base of the heart, and gives birth to systemic branches, both pulmonary and coronary, frequently associated with a ventricular septal defect (VSD) and has a poor prognosis. We present a series of 17 cases diagnosed in our tertiary center with different types of fetal common arterial trunk, its associated disorders, the evolution of the pregnancies, and of the neonates. We concluded that our cases support the fact that a complete intrauterine evaluation of each case of the common arterial trunk is impossible. The postnatal prognosis of the cases from our center was fatal, similar to most reports of the literature.

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Section: Discussionmentioning

confidence: 99%

Prenatal diagnosis of the fetal common arterial trunk. A case series

Mărginean¹,

Gozar

Mărginean

et al. 2018

Med Ultrason

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“…The remainder of the fetal anatomy should be assessed thoroughly by a fetal medicine specialist. Current status of prenatal ultrasound allows investigation of extracardiac defects, which may increase the suspicion of 22q11.2 deletion syndrome, such as thymus agenesis 25,26 and isolated defects in the palate. Further studies are needed to evaluate if assessment of chromosomal abnormalities could be improved by looking at these specific markers, thus reducing the number of invasive tests.…”

Section: Implications For Clinical Practice and Future Researchmentioning

confidence: 99%

“…Another two had mild symptoms, which improved. Computed tomographic angiography and barium swallow at 2 and 5 years of age showed no significant obstruction Galindo (2009) 11 Turan (2009) 12 Hsu (2011) 32 Li (2011) 31 Bronshtein (2011) 30 Gul (2012) 29 Miranda (2014) 28 Razon (2014) 24 Chaoui (2002) 25 Achiron (2002) 2 Patel (2006) 10 Berg (2006) 8 Zidere (2006) 7 Tuo (2009) 9 Galindo (2009) 11 Turan (2009) 12 Hsu (2011) 32 Bronshtein (2011) 30 Gul (2012) 29 Miranda (2014) 28 Razon (2014) 24 Current study Galindo (2009) 11 Turan (2009) 12 Hsu (2011) 32 Li (2011) 31 Bronshtein (2011) 30 Bronshtein (1998) 6 Gul (2012) 29 Miranda (2014) 28 Achiron (2002) 2 Patel (2006) 10 Berg (2006) 8 Zidere (2006) 7 Tuo (2009) 9 Galindo (2009) 11 Turan (2009) 12 Hsu (2011) 32 Li (2011) 31 Bronshtein (2011) 30 Chaoui (2002) 25 Gul (2012) …”

Section: Cohort Studymentioning

confidence: 99%

Fetuses with right aortic arch: a multicenter cohort study and meta‐analysis

D’Antonio

Khalil

Zidere

et al. 2016

Ultrasound in Obstet & Gyne

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“…2 The normal gland has variable sonographic appearances during fetal life, ranging from hypoechoic to hyperechoic and tending to become more hypoechoic with advancing gestation. 5 In the neonatal period, it is mildly hypoechoic compared with liver and spleen and usually homogeneous or slightly coarse in texture.…”

Section: Discussionmentioning

confidence: 99%

Fetal Thymic Cyst

McEwing

Chaoui

2005

Journal of Ultrasound in Medicine

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he thymus, a lymphoepithelial gland with vital functions in T-cell lymphopoiesis, 1 can be shown in most fetuses on routine prenatal sonography in the superior mediastinal plane used to examine the great vessels (3-vessel view).2,3 The gland lies immediately posterior to the sternum and anterior to the great vessels. Thymic cysts have been described in the neonatal and pediatric literature, and, to our knowledge, there is a single report of a prenatally detected intrathoracic cyst in which a specific prenatal diagnosis and identification of the thymic origin was not possible. 4 We report a case of a thymic cyst first detected in a fetus at 22 weeks' gestation, which showed spontaneous resolution in the postnatal period.Received September 22, 2003, Case ReportA 36-year-old patient, gravida 2, para 1, was referred for routine sonography at 22 weeks' gestation. She had a previous healthy child, and the course of this pregnancy so far had been uneventful. Biometry revealed an appropriately grown fetus with no markers of aneuploidy. Targeted fetal echocardiography showed normal cardiac anatomic characteristics. Two hypoechoic cysts measuring 8 and 5.5 mm maximally were detected in the transverse view of the superior mediastinum, lying ventral to the great vessels in the region of the fetal thymus. The cysts did not show any mass effect on the great vessels or trachea and did not extend out of the mediastinum into the cervical region. The patient was counseled about the rarity of these findings and the lack of involvement of adjacent structures. She elected for expectant management and declined an invasive procedure. There were no additional findings. Follow-up sonograms were performed at 25, 28, and 34 weeks' gestation and showed a relative decrease in size of the cysts (6 and 3 mm in diameter; Figures 1 and 2).

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Absent or hypoplastic thymus on ultrasound: a marker for deletion 22q11.2 in fetal cardiac defects

Abstract: Objective Congenital heart defects (CHD),

Cited by 115 publications

References 31 publications

Prenatal diagnosis of the fetal common arterial trunk. A case series

Prenatal diagnosis of the fetal common arterial trunk. A case series

Fetuses with right aortic arch: a multicenter cohort study and meta‐analysis

Fetal Thymic Cyst

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