• Users Online: 561
  • Print this page
  • Email this page

Ahead of print publication
Skeletal defect at first-trimester ultrasound scan

 Department of Obstetrics and Gynaecology, Centro Hospitalar Tâmega E Sousa, Porto, Portugal

Click here for correspondence address and email

Date of Submission29-Apr-2020
Date of Decision19-May-2020
Date of Acceptance02-Jun-2020
Date of Web Publication24-Aug-2020

How to cite this URL:
Freixo M, Soares E, Coelho M, Marinho C, Rocha J, Rodrigues G. Skeletal defect at first-trimester ultrasound scan. J Med Ultrasound [Epub ahead of print] [cited 2021 May 17]. Available from: http://www.jmuonline.org/preprintarticle.asp?id=293253

  Section 1 – Quiz Top

Case description

We report a case of a nulliparous 36-year-old Portuguese woman at 14 weeks of gestation for her first prenatal visit in our hospital. The medical history was unremarkable without known underlying conditions (medical or surgical).

In ultrasound (US) performed at 14 weeks and 3 days, we found a singleton live fetus with normal amniotic fluid volume. Fetal biometry was not consistent with late period date because the crown rump length was found to be smaller than expected. The fetal anatomy above the midthorax, including the heart and the intracranial structures, appeared normal. Below this level, however, a sudden termination of the spine at lumbosacral level was seen [Figure 1]. In the transverse section, the sacrum was missing and the iliac wings are positioned in midline close to each other [Figure 2].
Figure 1: Ultrasound: Abrupt termination of spine at lumbosacral level

Click here to view
Figure 2: Ultrasound: Missing sacrum

Click here to view

The lower limbs were akinetic and were kept in fixed flexion [Figure 3] and [Figure 4]. The fetus had clubfeet [Figure 5]. The bladder was not observed and the bowel was hyperechogenic [Figure 6].
Figure 3: Ultrasound: Transversal view - Fixed flexion of lower limbs 15

Click here to view
Figure 4: Ultrasound: Fixed flexion of lower limbs

Click here to view
Figure 5: Ultrasound: Clubfeet

Click here to view
Figure 6: Ultrasound: Hyperechogenic bowel

Click here to view

Combined first-trimester screening was performed and revealed a reduced risk for trisomy 21 (1:13494), trisomy 18 (1:91068), and trisomy 13 (1:76419) with pregnancy-associated plasma protein-A = 0.68 MoM and free beta-human chorionic gonadotropin = 0.60 MoM.

Taking into account the US findings, a cytogenetic study was proposed, which revealed a normal array-comparative genomic hybridization. The postabortion study confirmed the US findings.

  What is the Diagnosis? Top

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given her consent for her images and other clinical information to be reported in the journal. The patient understands that her name and initial will not be published and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.

Financial support and sponsorship


Conflicts of interest

There are no conflicts of interest.

Correspondence Address:
Marília Freixo,
Department of Obstetrics and Gynaecology, Centro Hospitalar Tâmega E Sousa, Porto
Login to access the Email id

Source of Support: None, Conflict of Interest: None


  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6]


   Ahead Of Print
 Download PDF Version
     Search Pubmed for
    -  Freixo M
    -  Soares E
    -  Coelho M
    -  Marinho C
    -  Rocha J
    -  Rodrigues G

Section 1 –...
What is the Diag...
Article Figures

 Article Access Statistics
    PDF Downloaded13    

Recommend this journal