Methods A total of 1490 pregnant women were assessed for first trimester ultrasonography. They had routinely measured crown-rump length (CRL) and nuchal translucency (NT) for screening for Down syndrome between 11 and 14 weeks of gestation. Cases with a NT≥3 mm were counselled further regarding the risk of chromosomal abnormality and prenatal diagnosis by fetal karyotyping. A complete follow-up...

OBJECTIVE To examine the potential impact of combining maternal age with fetal nuchal translucency thickness and maternal serum free beta-human chorionic gonadotropin (beta-hCG) and pregnancy-associated plasma protein-A (PAPP-A) in screening for trisomy 21 at 10-14 weeks of gestation. METHODS Maternal serum free beta-hCG and PAPP-A were measured by Kryptor, a random access immunoassay analyze...

Congenital lymphedema is an autosomal dominant condition characterized by chronic tissue swelling caused by deficient lymphatic drainage due to hypoplastic/aplastic lymphatic vessels and usually affecting the lower limbs. The locus of the gene has been identified in the long arm of chromosome 15. We report one case of congenital lymphedema presenting with increased nuchal translucency at 13 wee...

Congenital nephrotic syndrome of the Finnish type (CNF) and diffuse mesangial sclerosis (DMS) are rare causes of renal failure in infants. We report two cases, one of each condition, presenting with increased nuchal translucency at the 11-14-week scan, and review the literature.

A diagnostic flow chart is presented for use in case of perinatal death or still birth with non-immune hydrops fetalis, visceral effusions, or increased nuchal translucency. Immunohistochemical staining with CD-31, CD-34, D2-40, and smooth muscle actin is recommended.

We present a case of diaphanospondylodysostosis (DSD) which showed increased nuchal translucency at 1st trimester and missing ossification of the lower spine, short ribs with posterior gaps, and absent nasal bone in midtrimester. Autopsy revealed additionally bilateral nephroblastomatosis. Molecular genetic analysis showed a new mutation in the BMPER gene.

Fetal heart rate, umbilical artery pulsatility index, end-diastolic flow, nuchal translucency thickness and placental thickness were recorded in 250 women with a viable singleton pregnancy undergoing chorionic villous sampling for fetal karyotyping at 11-14 weeks of gestation. The fetal karyotype was normal in 210 cases and abnormal in 40, including 21 with trisomy 21, 13 with trisomy 18, three...

BACKGROUND First trimester increased fetal nuchal translucency is associated with fetal aneuploidies. One of the mechanisms of pathophysiology could be an abnormal extracellular matrix facilitating the formation of an interstitial edema. A previous study investigating interstitial edema in first trimester fetuses found large amounts of hyaluronan in the skin of fetuses with trisomy 21. The aim ...