No abstract available.
Down Syndrome* ; Prenatal Diagnosis* ; Ultrasonography*

Background: Down syndrome is a developmental disorder caused by an extra copy of chromosome 21, is a condition in which extra genetic material causes delays in the way a child develops, both mentally and physically. It affects about 1 in every 700 babies. The fetus having high risk for Down syndrome (OS) can be detected early by ultrasound. Objectives: The aim of the study is to find out some ultrasound markers that relate to OS fetus. Subjects and method: A descriptive study was carried out on 612 pregnant women with fetus \ufffd?12 weeks by ultrasound to detect abnormal markers in fetus. The fetus were diagnosed Down syndrome by analysis chromosome from amniocyte and monitor up to the neonate. Then, finding out association between OS fetus and ultrasound markers. Results: Among 612 pregnant women,36/12 pregnant women had abnormal imaging in fetus, 11/12 pregnant women had OS fetus. There were 12 pregnant women detected OS fetus. 6/12 OS fetus associated with the maker of nuchal skin fold (cut off 2: 3mm at the first trimester and 2: 6 mm at the second trimester): Detection rate (DR) was 50%; false positive rate (FOR): 0,83%. 3/12 OS fetus associated with the marker of duodenal atresia. DR was 25%; FOR: 0%. Conclusions: The two common markers associated with OS fetus: \r\n', u'the first marker was nuchal skin fold (with cut off 2: 3mm at the first trimester and > 6 mm at the second trimester) and the second marker was duodenal atresia. \r\n', u' \r\n', u'
Down Syndrome ; Fetus/ anatomy & ; histology ; abnormalities ; physiopathology ; ultrasonography

Down syndrome screening with cell-free DNA (cfDNA) in the maternal plasma has recently received much attention in the prenatal diagnostic field. Indeed, a large amount of evidence has already accumulated to show that screening tests with cfDNA are more sensitive and specific than conventional maternal serum and/or ultrasound screening. Globally, more than 1,000,000 of these noninvasive prenatal tests (NIPTs) have been performed to date. There are several different methods for NIPTs that are currently commercially available, including shotgun massively parallel sequencing, targeted massively parallel sequencing, and single nucleotide polymorphism (SNP)-based methods. All of these methods have their own advantages and disadvantages. In this review, I will focus specifically on the SNP-based NIPT.
DNA ; Down Syndrome ; High-Throughput Nucleotide Sequencing ; Mass Screening ; Plasma ; Polymorphism, Single Nucleotide ; Prenatal Diagnosis ; Ultrasonography

We report a case of transient abnormal myelopoiesis in a Down syndrome fetus diagnosed at 28(+3) weeks of gestation that rapidly progressed to intrauterine death 10 days later. Fetal hepatosplenomegaly with cerebral ventriculomegaly, although not specific, may be a suggestive finding of Down syndrome with transient abnormal myelopoiesis. Prompt fetal blood sampling for liver function test and chromosomal analysis are mandatory for early detection and management.
Adult ; Down Syndrome/*ultrasonography ; Female ; Fetal Blood/cytology ; Fetal Death ; Fetal Diseases/*diagnosis ; Hepatomegaly/ultrasonography ; Humans ; Leukocytosis/diagnosis ; *Myelopoiesis ; Pregnancy ; *Prenatal Diagnosis ; Splenomegaly/ultrasonography ; Thrombocytopenia/diagnosis

OBFECTIVE: A nuchal skinfold thickness measurement of >or=6mm is widely used as anonivasive tool in screening fetuses with Down syndrome. The aim of this study is to obtainnormative data on the nuchal skinfold thickness in chromosomally normal fetuses duringsecond trimester. METHOD: Fetal nuchal skinfold thickness was measured in the suboccipitobregmaticplan as part of second trimester ultrasonography. Three hundred thirtyfive fetuses,confirmed to be without chromosomal abnormality through evaluation by amniocentesisand/or postnatal examination, were included. RESULT: The mean of measurements increased from 2.74mm to 5.30mm between 15Weeks and 26 weeks of gestation. The measurements of fetal nuchal kinfold thicknesscorrelated linearly with gestational age(y=-1.755+0.29, r(2)=0.406, p=0.0001). Fetal genderhad no influence on this measurement. In contrast to the fact that three of 271 fetuses at or=21 weeks showed nuchal thickness measurement of >or=6mm. CONCLUSION: During second trimester, measurements of fetal nuchal skinfold thicknessincreases as a function of gestational age in normal fetuses. There were no influence offetal gender and no ethnic difference from other countries in this measurement at 15~20weeks of gestation. However, measurements of fetal nuchal skinfold thickness >or=6mm asa screening tool for Down syndrome seems to be confined to fetuses at 15~20 weeks` gestation.
Chromosome Aberrations ; Down Syndrome ; Female ; Fetus* ; Gestational Age ; Humans ; Mass Screening ; Pregnancy ; Pregnancy Trimester, Second* ; Skinfold Thickness* ; Ultrasonography

Trisomy 18 is the second most common chromosomal anomaly which reach to live birth next to Down syndrome. Several methods were proposed to screen patients on the risk of Edward syndrome like maternal serum levels of total human chorionic gonadotropin (hCG), alpha-fetoprotein (AFP) and unconjugated estriol or free beta hCG with AFP, but the serum screening has only 67% detection rate with a 7.2% of false positive rate. Therefore, in order to overcome the limitations which the serum markers have, detailed ultrasound examination is also necessary and sensitivity of 80% was reported. We report a case of Trisomy 18 fetus in which choroid plexus cyst was the only abnormal sonographic finding.
alpha-Fetoproteins ; Biomarkers ; Chorionic Gonadotropin ; Choroid Plexus* ; Choroid* ; Down Syndrome ; Estriol ; Fetus ; Humans ; Live Birth ; Mass Screening ; Trisomy ; Ultrasonography

OBJECTIVE: The goal of this study is to determine the efficacy of rapid karyotyping from fetal ascitic fluid. METHODS: In three cases of isolated fetal ascites diagnosed by prenatal ultrasonography, ultrasound guided fetal paracentesis and amniocentesis were performed and successfully obtained. Fetal karyotyping in each case at 29, 30 and 32 weeks gestation using modified lymphocyte culture method was conducted. RESULTS: The chromosomal analysis was successful within 72 hours and abnormalities were detected in two cases and revealed trisomy 21 in each case. Our study demonstrated that the majority distribution of white blood cells was lymphocytes which ranged from 2.1 * 10(6) cells/ml to 3.7 * 10(6) cells/ml and the cell density for culture was at least than 0.35 * 10(6) cells/ml. CONCLUSION: The use of ascitic fluid as a cell source to achieve rapid fetal karyotyping can be valuable when cordocenteis or amniocentesis would be technically more difficult, or when rapid result is required for planning of perinatal management at late second or third trimester gestational age.
Amniocentesis ; Ascites ; Ascitic Fluid* ; Cell Count ; Cytogenetics* ; Diagnosis* ; Down Syndrome ; Female ; Gestational Age ; Humans ; Karyotyping ; Leukocytes ; Lymphocytes ; Paracentesis ; Pregnancy ; Pregnancy Trimester, Third ; Ultrasonography ; Ultrasonography, Prenatal

Isolated pleural effusion, so called primary pleural effusion denotes a pleural effusion without documented etiology such as a cardiac, inflammatory, iatrogenic problem or fetal hydrops. Chromosomal anomaly such as Down syndrome may be associated with isolated pleural effusion. The content of the isolated pleural effusion is mostly chylous, and isolated non-chylous pleural effusion in neonate is rare. We experienced 2 cases of isolated non-chylous pleural effusion. They had neither cardiac problem nor other sign of hydrops fetalis. Imaging diagnosis was done by plain chest radiography and subsequent ultrasonogram. One of them was diagnosed to Down syndrome by karyotyping. They were fared well after diagnostic and therapeutic thoracentesis. We describe 2 cases of non-chylous pleural effusion and review a few English-language case reports of this entity.
Chyloperitoneum/pathology ; Chylothorax/pathology ; Down Syndrome/diagnosis/genetics ; Female ; Fetal Diseases/diagnosis/therapy ; Gestational Age ; Human ; Hydrothorax ; Infant, Newborn ; Karyotyping ; Male ; *Pleural Effusion ; Pregnancy ; Ultrasonography ; Ultrasonography, Prenatal

OBJECTIVE: We performed this study to analyze the indications, distributions of maternal age and cytogenetic results of midtrimester amniocentesis and to determine the complications and risks of it. METHODS: This study was retrospectively reviewed 674 cases of midtrimester genetic amniocentesis from January 1997 to October 2001 in Kangdong Sacred Hospital, Hallym University. We analyzed the indications, distributions of maternal and gestational age, chromosomal results, and of which accorded to indications of cytogenetic studies. RESULTS: The indications of amniocentesis were abnormal maternal serum screening (46.2%), advanced maternal age (> OR =35: 44.8%), abnormal ultrasonographic findings (5.9%), familial history of fetal anomaly (2.8%) and previous history of fetal chromosomal abnormalities (0.3%), in order. The overall incidence of chromosomal aberration was 3.6% (24/674), which were composed of 18 cases of numerical aberrations and 6 cases of structural aberrations. In autosomal aberrations, there were 7 cases of Down's syndrome, 6 cases of Edward syndrome, 1 case of Patau syndrome and 3 cases of Mosaicism. In sex chromosomal aberration, there was a case of Turner syndrome. In chromosomal aberrations according to indications, there was 7.5% (3/40) of chromosomal abnormalities in abnormal ultrasonographic findings group, 3.2% (10/311) in abnormal maternal serum screening group and 3.0% (9/302) in advanced maternal age group. There was statistical significance only in abnormal ultrasonographic findings group. There was no significant complication after amniocentesis except 0.3% (2 cases) of fetal loss. CONCLUSION: Maternal serum screening, advanced maternal age and antenatal ultrasonograms should be important screening methods for amniocentesis which is considered to the most effective diagnostic procedure for prenatal cytogenetic studies. The karyotyping analysis of midtrimester amniocentesis is efficacious method for evaluation of chromosomal aberrations and genetic counselling for parents.
Amniocentesis* ; Chromosome Aberrations ; Cytogenetics ; Down Syndrome ; Female ; Gestational Age ; Humans ; Incidence ; Karyotyping ; Mass Screening ; Maternal Age ; Mosaicism ; Parents ; Pregnancy ; Pregnancy Trimester, Second* ; Retrospective Studies ; Turner Syndrome ; Ultrasonography

Before the exact location of its chromosomal abnormality was identified, 22q11.2 deletion syndrome was described as many different names depending on its presenting clinical features. Patients with this syndrome have a wide range of findings such as cardiac anomaly, abnormal face, thymic hypoplasia, cleft palate, and hypocalcemia. Cardiac involvement is a prominent feature and most of the patients have a conotruncal heart defect. 22q11.2 deletion is the most common chromosomal cause of congenital heart defect after trisomy 21. Familial transmission accounts for about 8 per cent of cases and most of the cases develop sporadically. Even in cases where this syndrome is inherited, the parents' chromosomal abnormalities are often discovered only after the deletion is suspected in their children. We describe two prenatal cases in which this syndrome was suspected by ultrasonogram and confirmed by fluorescent in situ hybridization (FISH). In both cases, there was no known prior family history of cardiac abnormalities or chromosomal abnormality. In one case, autopsy following termination further confirmed the diagnosis. In the other case, the mother was also found to have 22q11.2 deletion.
Autopsy ; Child ; Chromosome Aberrations ; Cleft Palate ; Diagnosis ; DiGeorge Syndrome* ; Down Syndrome ; Heart ; Heart Defects, Congenital ; Humans ; Hypocalcemia ; In Situ Hybridization, Fluorescence ; Mothers ; Prenatal Diagnosis* ; Ultrasonography