Prenatal Diagnosis of a Fetus with Terminal Deletion of Chromosome 1 (q43) in First-Trimester Screening: Is There a Characteristic Antenatal 1q Deletion Phenotype? A Case Report and Review of the Literature

AbstractMultiple first trimester aneuploidy sonomarkers have been introduced recently.To evaluate the efficacy of first trimester sonomarkers in fetal aneuploidy detection without serum markers.There were entirely 280 fetuses with 11–13+6 weeks’ gestation (crown-rump -length between 45–84 mm) enrolled to assess nuchal translucency thickness (NT), nasal bone (NB), tricuspid regurgitation (TR) and ductus venosus (DV) flow. The performance of each single marker and multiple markers for major fetal aneuploidy screening were determined.Totally, 190 fetuses (67.85%) underwent invasive prenatal diagnosis with 14 major chromosome abnormalities identified including 4 cases of trisomy 21, 4 cases of trisomy 18, 3 cases of trisomy 13 and 3 cases of 45, XO. NT was the most accurate single marker with sensitivity of 71.43% and false-positive rate (FPR) of 4.14% while NB or TR was the most specific marker (99.6%) but lacked sensitivity. Among multiple first trimester-screening sonomarkers, NT plus TR evaluation were the most sensitive test (78.57%) with FPR of 4.76%.NT was the most accurate first trimester-screening marker for fetal aneuploidy. NT plus TR assessment as double-screening markers could improve the sensitivity by 7% leading to the lower number of unnecessary invasive prenatal diagnosis.

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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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Non-compacted myocardium and foetal left isomerism as a hydrops’ aetiology

Cardiology in the Young ◽

10.1017/s1047951110000144 ◽

2010 ◽

Vol 20 (2) ◽

pp. 223-225 ◽

Cited By ~ 2

Author(s):

Ilda J. G. Rocha ◽

Rosete M. A. N. Nogueira ◽

Ana L. C. Carriço

Keyword(s):

Case Report ◽

Trisomy 21 ◽

Septal Defect ◽

First Trimester ◽

First Trimester Screening ◽

Cardiac Malformation ◽

Foetal Death ◽

Left Isomerism ◽

Increased Risk ◽

Trimester Screening

AbstractWe present a case report of a pregnant woman with increased risk for trisomy 21 at first-trimester screening, assessed by ultrasonography, that was sent to our hospital. Amniocentesis was performed at 14 weeks and 2 days to obtain foetal karyotype that was normal (46,XX). At 19 weeks and 1 day, foetal hydrops associated with cardiac malformation was detected by routine scan. Foetal echocardiogram revealed a complete auriculoventricular septal defect, non-compacted myocardium, and a bradycardia of 70–90 beats per minute, which lead to the suspicion of left isomerism. Foetal death occurred at 20 weeks and 3 days. Autopsy was consistent with the prenatal diagnosis.

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