Klinefelter Syndrome Diagnosed by Prenatal Screening Tests in High-Risk Groups

Onm-13: Prenatal Care in High-Risk Pregnancies

Prenatal care is more than just health care in pregnancy. For the vast majority of women, pregnancy follows a routine course. Some women, however, have medical difficulties related to their health or the health of their baby. These women experience what is called a high-risk pregnancy. A pregnancy may be considered high-risk for a variety of reasons. Some of these include: diabetes, preeclampsi...

The First Case of a Small Supernumerary Marker Chromosome 18 in a Klinefelter Fetus: A Case Report

Small supernumerary marker chromosomes (sSMCs), or markers, are abnormal chromosomal fragments that can be hereditary or de novo. Despite the importance of sSMCs diagnosis, de novo sSMCs are rarely detected during the prenatal diagnosis process. Usually, prenatally diagnosed de novo sSMCs cannot be correlated with a particular phenotype without knowing their chromosomal origin and content; ther...

Statistical study of 45 false negative cases of Down syndrome in the first trimester screening protocol during 2015-2016 and introduction of a new criterion (Ratio> 3.0 of free BhCG MoM/PAPP-A MoM) to increase the efficacy of first trimester screenin

Introduction: Down syndrome screening has become an important part of antenatal care and is performed for pregnant women worldwide. In this study, 45 statistically accurate cases of false negatives in the first trimester screening tests have been examined statistically, so that by paying attention to some criteria, we can find out how many of these cases can be detected and how much each criter...

A Rare Case of Klinefelter Syndrome Patient with Quintuple Mosaic Karyotype, Diagnosed by GTG-Banding and FISH

Screening of Fetal Chromosome Aneuploidies in the First and Second Trimester of 125,170 Iranian Pregnant Women

BACKGROUND Aneuploidy is one of the main causes of congenital anomalies, mental and physical disabilities, in newborns. The aim of this study was to determine various chromosomal aneuploidies in the first and second trimester screening of pregnant women, in Iran. METHODS A descriptive retrospective study was conducted on 125,170 pregnant women referred to a major referral medical diagnostic l...