OBJECTIVE To determine if combinations of maternal characteristics and measurements of parameters used in screening for aneuploidies at 11-13 weeks provide significant prediction of macrosomia. METHOD Maternal characteristics, fetal nuchal translucency (NT), free β-human chorionic gonadotrophin (β-hCG) and pregnancy-associated plasma protein-A (PAPP-A) were recorded at 11(+0)-13(+6) weeks in ...

Inadequate blood samples or chorionic villus samples (CVS) are occasionally submitted for diagnostic DNA studies. Extraction of such samples by routine means yields small amounts of DNA, frequently not enough to perform all the tests required. We describe here two modifications of a simple method (1) which avoids having to extract DNA and can be performed in a few hours. A single strand (contai...

Recently, the expression of a human endogenous retrovirus HERV-FRD, able to encode a fusogenic envelope protein (syncytin 2), has been observed in human placenta. The aim of the present study was to localize the expression of syncytin 2 in first trimester placenta. In addition, we investigated the presence of HERV-FRD transcripts during the in vitro differentiation of isolated villous and extra...

Adenosine deaminase deficiency accounts for approximately 15-20% of severe combined immunodeficiency in humans. The gene for adenosine deaminase is located on chromosome 20q12-q13.11 and codes for an aminohydrolase that catalyzes the deamination of adenosine and deoxyadenosine to inosine and deoxyinosine, respectively. Absence of the enzyme causes a build-up of the substrates in addition to exc...

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/ by-nc/3.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. Placental mesenchymal dysplasia (PMD) is a rare, benign condition characterized by placento...

The chorionic villi of human term placentae are a rich source of mesenchymal stem cells (PMSCs). The stem cell ‘‘niche’’ within the chorionic villi regulates how PMSCs participate in placental tissue generation, maintenance and repair, but the anatomic location of the niche has not been defined. A number of cell surface markers for phenotypic characterisation of mesenchymal stem cells (MSCs) we...

BACKGROUND Alpha-thalassemia is a common hereditary disease in Taiwan. Affected patients always carry a heavy burden of morbidity and early death. Prenatal diagnosis has reduced the disease burden on families and the health care system. This study evaluated a new non-radioactive Southern blotting hybridization method for prenatal diagnosis of this disease. METHODS Seventy two chorionic villi ...

We present here an analysis of 888 unrelated beta-thal chromosomes consisting of 444 transfusion dependent children from various regions of Punjab and Islamabad Pakistan. By using Multiplex ARMS- PCR, restriction endonuclease analysis, allele specific oligonucleotide (ASO) hybridization and sequencing, 17 beta-thal mutations and 3 Hb variants were detected in 99.5 % (884/888) of the chromosomes...

Invasive methods for prenatal diagnosis include chorionic villus sampling (CVS) and amniocentesis that entail the risk of fetal loss and mortality. During pregnancy, fetal cells including fetal DNA crossed the placenta and within maternal peripheral blood those valuable sources of the sex and genetics information fetuses. It is demonstrated fetal DNA in plasma and serum from healthy pregnant wo...