Three‐dimensional ultrasound evaluation of short‐rib polydactyly syndrome type II in the second trimester: a case report

Viora, E.; Sciarrone, Andrea; Bastonero, S.; Errante, G.; Botta, Giovanni; Campogrande, M

doi:10.1046/j.0960-7692.2001.00521.x

Cited by 29 publications

(16 citation statements)

References 26 publications

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“…In some cases with familial recurrence, the transvaginal sonographic diagnosis at 13-14 weeks of gestation has been reported [4]. Fetoscopy and three-dimensional USG have also been tried in few reports [5,6]. However, uncertainty about the phenotypic expression of such pathologies means that caution must be exercised when making a diagnosis at this early stage of gestation, and a targeted examination by an experienced sonographer is warranted.…”

Section: Discussionmentioning

confidence: 99%

Prenatal Diagnosis of Short Rib-Polydactyly Type II by Ultrasound in Three Consecutive Pregnancies

Kumar

Anand

Jain

et al. 2016

J Obstet Gynecol India

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Section: Discussionmentioning

confidence: 99%

Prenatal Diagnosis of Short Rib-Polydactyly Type II by Ultrasound in Three Consecutive Pregnancies

Kumar

Anand

Jain

et al. 2016

J Obstet Gynecol India

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“…In this reported case of LBWC, prenatal counseling was aided by the 3D surface-rendering mode; moreover LBWC and other abdominal wall defects have been recognized [7,16,17] in surgical neonatal planning by the 3D relevance. The potential of a 3D application for fetal skeletal malformations has been discussed [18].…”

Section: Discussionmentioning

confidence: 99%

Three-dimensional multiplanar ultrasound in a limb-body wall complex fetus: Clinical evidence for counseling

Solerte

2006

The Journal of Maternal-Fetal & Neonatal Medicine

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A rare dysmorphologic fetal anomaly at the 17th week of gestation was suspected during a second trimester routine scan for fetal and maternal screening data. First findings were significant for a severe abdominal wall defect, limb and foot compromised positions. Fetal biometry was appropriate in biparietal diameter and head circumference measurements; the long upper bones were normal both for length and development. The patient was referred to a prenatal unit to complete the sonographic diagnosis. Two- and three-dimensional sonographic investigations were performed and techniques were complementary for fetal maldevelopment specification. Limb-body wall complex with lumbosacral spine torsion and lower limbs with severely abnormal features were identified. With 2D color Doppler, a heart defect was confirmed and the umbilical cord was missing from the amniotic cavity. An invasive procedure by amniocentesis was made to ascertain alpha-fetoprotein levels and fetal karyotype. Following parental counseling, pregnancy was terminated and feto-pathological examination confirmed the sonographic diagnosis. The 17-week fetus affected by limb-body wall complex is reported herein; 2D and 3D scans of the fetus identified organ displacement due to a combination of very early events.

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“…3D-US is currently accepted as a complementary technique to conventional 2D-US in the prenatal diagnosis of SD [20,21] . In our series, the use of 3D-US was limited because it was not available for some cases and there was a lack of experience with the technique.…”

Section: Discussionmentioning

confidence: 99%

Prenatal Diagnosis of Skeletal Dysplasias: Contribution of Three-Dimensional Computed Tomography

et al. 2011

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Objective: To describe the contribution of 3-dimensional computed tomography (3D-CT) in the prenatal diagnosis of skeletal dysplasias (SD) in a cohort of patients with inconclusive diagnosis by ultrasound (US). Methods: Between May 2007 and February 2010, six pregnant women with suspected fetal SD on US examination but with no specific diagnosis were studied with 3D-CT. The images were evaluated by a multidisciplinary team who proposed a likely diagnosis. Further postnatal workup included clinical and radiological evaluation in all cases. Prenatal and postnatal diagnoses were compared. Results: The use of 3D-CT provided a precise diagnosis confirmed postnatally in 5/6 patients. These included osteogenesis imperfecta type II (n = 2), osteogenesis imperfecta type III (n = 1), chondrodysplasia punctata (n = 1) and thanatophoric dysplasia type I (n = 1). A precise diagnosis could not be made in 1 case – either pre- or postnatally. Conclusion: Prenatal 3D-CT contributed to the diagnosis of the specific fetal SD in the majority of these cases. 3D-CT may have a complementary role to US where fetal SD is suspected, but no specific diagnosis can be made using US alone. Further studies on clinical performance and risk-benefit analysis are needed.

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Three‐dimensional ultrasound evaluation of short‐rib polydactyly syndrome type II in the second trimester: a case report

Cited by 29 publications

References 26 publications

Prenatal Diagnosis of Short Rib-Polydactyly Type II by Ultrasound in Three Consecutive Pregnancies

Prenatal Diagnosis of Short Rib-Polydactyly Type II by Ultrasound in Three Consecutive Pregnancies

Three-dimensional multiplanar ultrasound in a limb-body wall complex fetus: Clinical evidence for counseling

Prenatal Diagnosis of Skeletal Dysplasias: Contribution of Three-Dimensional Computed Tomography

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