Background Nuchal translucency (NT) is the sonographic appearance of a collection of fluid under the skin behind the fetal neck in the first-trimester of pregnancy. In fetuses with chromosomal abnormalities, cardiac defects and many genetic syndromes NT thickness is increased. The aim of the study was to evaluate the incidence of major cardiac defects in relation to the fetal NT in chromosomall...

Fetal bone cells were shown to have an interesting potential for therapeutic use in bone tissue engineering due to their rapid growth rate and their ability to differentiate into mature osteoblasts in vitro. We describe hereafter their capability to promote bone repair in vivo when combined with porous scaffolds based on poly(l-lactic acid) (PLA) obtained by supercritical gas foaming and reinfo...

The association of congenital heart defects with trisomy 21 was reported over 50 years ago and heart defects remain one of the most common and lethal abnormalities present postnatally in individuals affected by Down syndrome1–4. The purpose of this Editorial is to review the use of second-trimester fetal echocardiography as an adjunct to the genetic sonogram from a clinical perspective, based o...

OBJECTIVES To study the outcome of chromosomally normal pregnancies with increased nuchal translucency at the 10-14-week scan. DESIGN Retrospective study of 1320 chromosomally normal singleton pregnancies with nuchal translucency of > or = 3.5 mm. In addition to fetal karyotyping these patients were managed with follow-up scans at 14-16 and 20-22 weeks, specialist fetal echocardiography and i...

OBJECTIVES To assess the accuracy of fetal echocardiography at 11-13 weeks performed by well-trained obstetricians using a high-frequency linear ultrasound transducer. METHODS Fetal echocardiography was performed by obstetricians immediately before chorionic villus sampling for fetal karyotyping at 11-13 weeks. Digital videoclips of the examination stored by the obstetrician were reviewed off...

Most children with in utero alcohol exposure do not exhibit all features of fetal alcohol syndrome (FAS), and a challenge for clinicians is to make an early diagnosis of fetal alcohol spectrum disorders (FASD) to avoid lost opportunities for care. In brain, correct neurodevelopment requires proper angiogenesis. Since alcohol alters brain angiogenesis and the placenta is a major source of angiog...

OBJECTIVE To examine the possible role of Doppler ultrasound assessment of ductus venosus blood flow in screening for major cardiac defects in chromosomally normal fetuses with increased nuchal translucency (NT) thickness at 11 + 0 to 13 + 6 weeks' gestation. METHODS Ductus venosus blood flow velocity waveforms were obtained immediately before chorionic villus sampling for fetal karyotyping i...

PURPOSE The purpose of this study was to evaluate the feasibility and usefulness of sagittal color Doppler ultrasonography (CDUS) for the diagnosis of fetal cleft lip (CL) and cleft palate (CP). METHODS We performed targeted ultrasonography on 25 fetuses with CL and CP, taking coronal and axial images of the upper lip and maxillary alveolar arch in each case. The existence of defects in and m...

Congenital limb defects are rare fetal anomalies with a birth prevalence of 0.55 per 1,000. Amelia is an extremely rare birth defect marked by the complete absence of one or more limbs. We report a case of fetal amelia, ultrasound findings, manifestations and the fetal outcome.

OBJECTIVE The objective was to evaluate the relationships between all types of fetal fatty acid oxidation defects and maternal liver disease, including acute fatty liver of pregnancy and hemolysis, elevated liver enzymes, and low platelets (HELLP) syndrome. METHODS This was a case-control study comparing fetal fatty acid oxidation defects to the outcome of maternal liver disease. Fifty case i...