First-Trimester Sonographic Detection of Neurodevelopmental Abnormalities in Some Single-Gene Disorders

Zalen‐Sprock, R. M. Van; Vugt, J.M.G. van; Geijn, H.P. van

doi:10.1002/(sici)1097-0223(199603)16:3<199::aid-pd828>3.0.co;2-i

Cited by 23 publications

(14 citation statements)

References 8 publications

(2 reference statements)

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“…[16][17][18][19][20] To the best of our knowledge, prenatal imaging of JSRD was described in the literature in only 14 fetuses, most of which were examined by US. 16,18,19,24,25,[29][30][31][32][33][34][35] All fetuses at risk of JSRD in this study were referred with either normal or equivocal neurosonographic findings. Limitations of US imaging of fetal posterior fossa are widely reported.…”

Section: Discussionmentioning

confidence: 99%

Role of MR Imaging in Prenatal Diagnosis of Pregnancies at Risk for Joubert Syndrome and Related Cerebellar Disorders

Saleem¹,

Zaki²

2009

AJNR Am J Neuroradiol

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Section: Discussionmentioning

confidence: 99%

Role of MR Imaging in Prenatal Diagnosis of Pregnancies at Risk for Joubert Syndrome and Related Cerebellar Disorders

Saleem¹,

Zaki²

2009

AJNR Am J Neuroradiol

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“…3 The re fo re, it is im por tant to eva lu a te this struc tu re in the first tri mes ter. 4 Alt ho ugh it is a small struc tu re, the mo re ad van ced de vi ces and the cons tant in cre a se in the re so lu ti on of ima ges enab les to ob ser ve rhom ben cep ha lon in early preg nancy by tran sab do mi nal ul tra so nog raphy (US). 5 In this study, our aim was to in ves ti ga te whet her the si ze dif fe ren ces of the rhom ben cepha lon in the first tri mes ter had any inf lu en ce on the de ve lop ment of the pos te ri or fos sa structu res.…”

Section: Evaluation Of the Size Of Embryonic Rhombencephalon In Normamentioning

confidence: 99%

Evaluation of the Size of Embryonic Rhombencephalon in Normal Pregnancies

Tan¹,

İpek²,

Keskin³

et al. 2011

Turkiye Klinikleri J Med Sci

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uring prenatal development, the human brain is at first resembles a hollow neural tube and develops three swellings at its front end about four weeks after conception. During early development of the central nervous system, the prosencephalon (forebrain), the mesTurkiye Klinikleri J Med Sci 2011;31(4) 785Evaluation of the Size of Embryonic Rhombencephalon in Normal Pregnancies A AB BS S T TR RA AC CT T O Ob bj je ec ct ti iv ve e: : Rhombencephalon, which is responsible for the development of the cerebellum, cerebellar vermis and cisterna magna, comprises the posterior part of the three brain sacs in the embryo. In this study, we investigated whether the size differences of the rhombencephalon in the first trimester had any influence on the development of the posterior fossa structures. M Ma a t te e --r ri i a al l a an nd d M Me et t h ho od ds s: In 87 healthy embryos, rhombencephalon was evaluated using high frequency (7.5 MHz) probe through the transabdominal ultrasonography between 7-10 th weeks of pregnancy. Rhombencephalon was measured in sagittal planes and the mean diameter was calculated. In addition, the subjects were re-evaluated ultrasonographically in the second trimester in order to detect the development of the cerebellum, cerebellar vermis and cisterna magna, which are formed from the rhombencephalon between 18-24 th weeks of pregnancy. R Re es su ul lt ts s: : Between the 7 th and 10 th gestational weeks, the minimum, maximum and mean rhombencephalon diameters were 1.8 mm, 4.5 mm and 2.9 mm, respectively. C Co on nc cl lu us si io on n: : The size of the rhombencephalon may vary within the same week or from week to week. In the present study, no adverse effect of these differences was established in size on posterior fossa structures.K Ke ey y W Wo or rd ds s: : Rhombencephalon; embryonic structures; ultrasonography Ö ÖZ ZE ET T A Am ma aç ç: : Serebellum, serebellar vermis ve cisterna magnanın gelişiminden sorumlu olan rombansefalon embriyodaki üç beyin kesesinden en arka bölümünü oluşturur. Bu çalışmada birinci trimesterde rombansefalon büyüklüğündeki farklılıkların posterior fossa yapılarının gelişiminde herhangi bir etkisinin olup olmadığını araştırmak amaçlanmıştır. G Ge e r re eç ç v ve e Y Yö ön n t te em m l le er r: Seksen yedi sağlıklı embriyoda rombansefalon gebeliğin 7-10. haftaları arasında transabdominal yaklaşımda yüksek frekanslı prob (7.5 MHz) ile ultrasonografik olarak değerlendirildi. Rombansefalon sagital planda ölçülerek ortalama çap hesaplandı. Ek olarak bu olgular gebeliğin 18-24. haftalarında rombansefalondan gelişen serebellum, serebellar vermis ve cisterna magnanın gelişimini belirlemek amacıyla ultrasonografik olarak yeniden değerlendirildi. B Bu ul l g gu u l la ar r: Gebeliğin 7. ve 10. haftaları arasında minimum, maksimum ve ortalama rombansefalon çapları, sırasıyla, 1.8, 4.5 ve 2.9 mm olarak belirlendi. S So o n nu uç ç: Rombansefalonun büyüklüğü aynı hafta içinde ve haftadan haftaya değişmektedir. Bu çalışmada büyüklükteki bu farklılıkların posterior fossa yapıl...

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“…Beim Meckel-Gruber-Syndrom ist anfänglich ein vergröûerter 4. Ventrikels als nützlich [4,35]. Zur Absicherung der Diagnose erweist sich die Vermessung des 4.…”

Section: Meckel-gruber-syndromunclassified

“…Zur Absicherung der Diagnose erweist sich die Vermessung des 4. Nach 11 Wochen wird die okzipitale Enzephalozele in der Regel erkannt [35,37]. Ein okzipitaler Defekt war in der Embryonalperiode als Unregelmäûigkeit am Hinterkopf zu sehen [20].…”

Section: Meckel-gruber-syndromunclassified

The central nervous system. Normal development and development anomalies. Ultrasound diagnosis in early pregnancy

Blaas

Eik‐Nes

1999

Gynäkologe

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First-Trimester Sonographic Detection of Neurodevelopmental Abnormalities in Some Single-Gene Disorders

Cited by 23 publications

References 8 publications

Role of MR Imaging in Prenatal Diagnosis of Pregnancies at Risk for Joubert Syndrome and Related Cerebellar Disorders

Role of MR Imaging in Prenatal Diagnosis of Pregnancies at Risk for Joubert Syndrome and Related Cerebellar Disorders

Evaluation of the Size of Embryonic Rhombencephalon in Normal Pregnancies

The central nervous system. Normal development and development anomalies. Ultrasound diagnosis in early pregnancy

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