OBJECTIVE To determine the relationship between trisomies 13, 18, and 21 and craniofacial malformations detected by prenatal sonography. DESIGN During a 29-year period (1976 through 2004), prenatal sonographic findings of 69 fetuses with trisomy 13; 171 fetuses with trisomy 18; 302 fetuses with trisomy 21; and 17 fetuses with other trisomies were evaluated retrospectively, after fetal karyoty...

Trisomy 21 is the most common reason that women opt for prenatal diagnosis. Conventional prenatal diagnostic methods involve the sampling of fetal materials by invasive procedures such as amniocentesis. Screening by ultrasonography and biochemical markers have been used to risk-stratify pregnant women before definitive invasive diagnostic procedures. However, these screening methods generally t...

Somatic and visceral growth profiles of midgestation human fetuses with trisomy 21, 18, or 13 demonstrate that each disorder has a characteristic pattern of growth aberration. The most striking deviations are short limbs in trisomy 21, subnormal adrenal and lung weights in trisomy 18, and supranormal spleen and kidney weights in trisomy 13.

down’s syndrome, or 21 trisomy, is the most common autosomal abnormality, with incidence of 1 per 815 live births in iran. worldwide reports indicate that about 95% are regular trisomy, or nondisjunction, 1% are mosaic and 4% due to translocation. however, these values show a geographical variation. a cytogenetic study of down's syndrome, or trismoy 21, was carried out on 366 cases (202 males a...

OBJECTIVE To investigate the potential value of ultrasound examination of the fetal profile for present/hypoplastic fetal nasal bone at 15-22 weeks' gestation as a marker for trisomy 21. METHODS This was an observational ultrasound study in 1046 singleton pregnancies undergoing amniocentesis for fetal karyotyping at 15-22 (median, 17) weeks' gestation. Immediately before amniocentesis the fet...

BACKGROUND A beneficial consequence of screening for trisomy 21 is the early diagnosis of trisomies 18 and 13. Our objective was to examine the performance of first-trimester screening for trisomies 21, 18 and 13 by maternal age, fetal nuchal translucency (NT) thickness, fetal heart rate (FHR) and maternal serum-free beta-hCG and pregnancy-associated plasma protein-A (PAPP-A). METHODS Prospec...

A prenatally diagnosed male fetus and his mother, who was referred because of her advanced age, both carried an abnormal bisatellited chromosome 21 as an extra chromosome. The abnormal 21 was monocentric and the G negative band q22 and part of q21 had been deleted during formation. The phenotype of both the mother and child (at birth) was normal.

OBJECTIVES To investigate the potential value of maternal serum placental growth factor (PlGF) in first-trimester screening for trisomy 21 and other major chromosomal abnormalities. METHODS The maternal serum concentration of PlGF at 11 + 0 to 13 + 6 weeks was measured in 609 euploid and 175 chromosomally abnormal pregnancies, including 90 with trisomy 21, 28 with trisomy 18, 19 with trisomy ...

OBJECTIVE To investigate the performance of nuchal fold thickness, nasal bone hypoplasia, reversed flow in the ductus venosus and tricuspid valve regurgitation in the prediction of fetal aneuploidies in the early second trimester. METHODS This was a prospective study of 870 fetuses at 14 + 0 to 17 + 6 weeks of gestation, performed from 2005 to 2007. In all cases we assessed classical structur...