Pena-Shokeir syndrome is a rare, often lethal disease, characterized by intrauterine growth retardation, craniofacial anomalies, limb ankylosis, polyhydramnios and pulmonary hypoplasia. This autosomal recessive disease should be differentiated from trisomy 18, which the second most common multiple congenital malformation syndrome. It is therefore clear that the two syndromes have certain features in common, the most consistent being craniofacial and limb abnormalities and intrathoracic pathology. Therefore, final diagnosis should be based on chromosome study. The case that we experienced had typical Pena-Shokeir phenotype, but chromosomal study show 47, XY, +18.
Ankylosis ; Diagnosis ; Extremities ; Fetal Growth Retardation ; Pathology ; Phenotype* ; Polyhydramnios ; Trisomy*

The teratogenic effects of alcohol have been recognized in fetal alcohol syndrome (FAS). FAS is a collection of signs and symptoms seen in some children exposed to alcohol in the prenatal period. An 8 month-old-male with an alcoholic mother was diagnosed as a case of FAS according to the following : 1) early-onset intrauterine growth retardation and persistent postnatal growth failure 2) psychomotor retardation 3) craniofacial dysmorphism. Early diagnosis and continued education are advantageous at all levels, benefiting both the individual and all of society. We present this case with a brief review of related literatures.
Alcoholics ; Child ; Early Diagnosis ; Education ; Fetal Alcohol Spectrum Disorders* ; Fetal Growth Retardation ; Humans ; Mothers

PURPOSE: Ultrasonography is being widely used as a standard test in obstetric care, studies on congenital hydronephrosis. Focusing on specific prenatal history and frequently associated anomalies in newborn infants with hydronephrosis, this investigation was intended to suggest particulars that need to be considered in making an accurate diagnosis of fetal hydronephrosis. METHODS: From May 2000 to May 2005, retrospective study was conducted on 67 patients (93 kidney) who had been diagnosed by renal ultrasonography during neonatal periods. Hydronephrosis was defined as having a pelvic diameter more than 5 mm, and was classified into three groups according to their severity;mild (grade I, II), moderate (grade III) and severe (grade IV). RESULTS: This study included 67 cases with 54 male and 13 female infants. There were 35 cases with a specific prenatal history in 22 infants such as oligohydramnios, intrauterine growth retardation, preeclampsia and others. 33 cases in 23 infants had associated anomalies such as urogenital anomalies, cardiac anomalies. Of these 67 infants (97 kidneys), 49.5% was mild, 30.1% moderate, 20.4% severe hydronephrosis. Infants with moderate hydronephrosis had more specific prenatal history and associated anomaly than the mild hydronephrosis did (68.2% vs 31.8%, P<0.001 73.7% vs 26.3%, P<0.001). CONCLUSION: Particular attention should be paid for cases with congenital hydronephrosis with a specific prenatal history to find out any associated congenital anomalies (such as urogenital or cardiac anomalies). This will enable clinicians to establish a more appropriate treatment and postnatal care.
Diagnosis ; Female ; Fetal Growth Retardation ; Humans ; Hydronephrosis* ; Infant ; Infant, Newborn* ; Male ; Oligohydramnios ; Postnatal Care ; Pre-Eclampsia ; Pregnancy ; Retrospective Studies ; Ultrasonography

Osteochondrodysplasia is a heterogeneous group of disorders appearing short limbed dwarfism. Because many of these entities are lethal and hereditary, an accurate diagnosis is mandatory. The purpose of this study is to define the clinicopathologic features and radiologic findings of osteochondrodysplasia. We reviewed 29 autopsy cases of congenital short limbed dwarfism, consisting of thanatophoric dysplasia (TD) (12 cases), osteogenesis imperfecta (OI) (12 cases), asphyxiating thoracic dysplasia (ATD) (3 cases), short-rib-polydactyly syndrome (SRPS) (1 case) and hypochondrogenesis (1 case). The gestational age ranged from 16 to 41 weeks. Of 6 fetuses that were born alive, 3 were ATD, 2 were TD and 1 was hypochondrogenesis. TD was frequently complicated by hydramnios. Of 8 cases studied chromosomally, only 1 showed chromosomal abnormality -46XY, inv 9. Intrauterine growth retardation was frequently associated with OI. Pulmonary hypoplasia was present in 23 cases (79%), including all cases of ATD, SRPS and hypochondrogenesis, 11 in TD and 7 in OI. Other associated anomalies were present in 17 cases (59%).
Autopsy* ; Chromosome Aberrations ; Diagnosis ; Dwarfism ; Extremities ; Fetal Growth Retardation ; Fetus ; Gestational Age ; Osteochondrodysplasias* ; Osteogenesis Imperfecta ; Polyhydramnios ; Thanatophoric Dysplasia

OBJECTIVE: To explore the genetic basis for a Chinese pedigree with 6q26q27 microduplication and 15q26.3 microdeletion. METHODS: A fetus with a 6q26q27 microduplication and a 15q26.3 microdeletion diagnosed at the First Affiliated Hospital of Wenzhou Medical University in January 2021 and members of its pedigree were selected as the study subject. Clinical data of the fetus was collected. The fetus and its parents were analyzed by G-banding karyotyping and chromosomal microarray analysis (CMA), and its maternal grandparents were also subjected to G-banding karyotype analysis. RESULTS: Prenatal ultrasound had indicated intrauterine growth retardation of the fetus, though no karyotypic abnormality was found with the amniotic fluid sample and blood samples from its pedigree members. CMA revealed that the fetus has carried a 6.6 Mb microduplication in 6q26q27 and a 1.9 Mb microdeletion in 15q26.3, and his mother also carried a 6.49 duplication and a 1.867 deletion in the same region. No anomaly was found with its father. CONCLUSION The 6q26q27 microduplication and 15q26.3 microdeletion probably underlay the intrauterine growth retardation in this fetus.
Female ; Humans ; Pregnancy ; East Asian People ; Fetal Growth Retardation/genetics* ; Karyotype ; Pedigree ; Prenatal Diagnosis ; Sequence Deletion ; Chromosome Duplication

OBJECTIVES: Early diagnosis of intrauterine growth retardation is important to ensure optimal monitoring and delivery with the introduction of real-time and Doppler ultrasound systems, a noninvasive method of measuring human fetal blood flow has become available. The aim of this study is to compare blood flow velocity waveforms at the fetal descending aorta and umbilical artery in normal and in patients with pregnancy induced hypertension. METHODS: Using a combination of linear array real-time and pulsed Doppler ultrasound, blood flow velocity measurements were carried out at the fetal descending aorta and umbilical artery in 35 normal pregnancies and 18 cases of pregnancy induced hypertensive patients. RESULTS: The mean systolic/diastolic ratio of umbilical artery and aorta was significantly higher in PIH patients than in normal pregnancies(3.8 +/- 0.81 versus 2.97 +/- 0.52, p<0.05) and to predict perinatal morbidity, umbilical velocimetry is more sensitive than that of descending thoracic aorta. CONCLUSION: This study suggests that umbilical artery velocimetry could be used as a marker to predict adverse perinatal outcome.
Aorta ; Aorta, Thoracic* ; Blood Flow Velocity ; Early Diagnosis ; Female ; Fetal Blood ; Fetal Growth Retardation ; Humans ; Hypertension, Pregnancy-Induced ; Pregnancy ; Rheology* ; Ultrasonography ; Umbilical Arteries

We performed this study to evaluate uterine artery Doppler velocimetry (UADV) measurement of unilateral or bilateral abnormalities as a predictor of complications in pregnancy during the mid-second trimester (20-24 weeks). We enrolled 1, 090 pregnant women who had undergone UADV twice: once between the 20th and 24th week (1st stage) and again between the 28th and 32nd week (2nd stage) of pregnancy, and then delivered at Yonsei Medical Center. UADV was performed bilaterally. Follow-up UADV was performed between the 28th and 32nd week, and the frequencies of pregnancy-induced hypertension (PIH), fetal growth restriction (FGR), and preterm delivery (before 34 weeks of gestation) were determined. Chi-squared and t-tests were used where appropriate, with p < .05 considered significant. According to the results of UADV performed between 20-24 weeks of gestation, 825 women (75.7%) were included in the normal group, 196 (18.0%) in the unilateral abnormality group, and 69 (6.3%) in the bilateral abnormality group. The incidences of FGR were 8.0%, 10.2%, and 26.1%, and the incidences of PIH were 0.1%, 3.6%, and 14.5%, respectively. The incidence of PIH was significantly lower in the normal group. The incidences of preterm delivery were 2.2%, 5.6%, and 8.7%, respectively. PIH developed in 46.7% of patients with bilateral abnormal findings in both the 1st and 2nd stage tests, and developed in none of the patients with normal findings in both tests. Abnormal results found by UADV performed between the 20-24th weeks of pregnancy, such as high S/D ratios regardless of placental location and the presence of an early diastolic notch, were associated with significant increases in the incidences of intrauterine growth restriction (IUGR) and PIH. This was true for both bilateral and unilateral abnormalities. Abnormal findings in bilateral UADV during the second trimester especially warrant close follow up for the detection of subsequent development of pregnancy complications.
Uterus/*blood supply ; Premature Birth/*diagnosis ; Pregnancy Trimester, Second ; Pregnancy ; *Laser-Doppler Flowmetry ; Hypertension, Pregnancy-Induced/*diagnosis ; Humans ; Fetal Growth Retardation/*diagnosis ; Female ; Adult

To investigate the relationship between low unconjugated estriol (uE3) levels in the second trimester and adverse perinatal outcomes in pregnancies without increased risk for Down's syndrome, 1,096 women under 35 years of age underwent a mid-trimester AFP-hCG-uE3 screening test between January 1995 and June 1998. Multiple pregnancies, maternal diabetes, smoking and elevation of AFP and hCG levels more than 2.0 multiple of median (MoM) were excluded from our study population. The results were divided into a low-uE3 group with uE3 levels at or below 0.75 MoM and a normal uE3 group with uE3 levels above 0.75 MoM. The risk for adverse pregnancy outcome was compared between the two groups and the role of low uE3 as a predictor of adverse pregnancy outcome was determined. The data were assessed using chi 2 or Fisher exact test and then logistic regression was used for the final analysis. The odds ratio (OR) and corresponding 95% confidence intervals (CI) were also calculated. Unconjugated E3 levels at or below 0.75 MoM was significantly associated with fetal growth restriction after adjustment for maternal age, weight, sampling weeks, AFP and hCG levels (OR 0.413, 95% CI 0.174-0.900; P = 0.035). Low uE3 levels in the second-trimester could help in the detection of fetal growth restriction by a low risk group in Down's syndrome. Careful gestational dating and serial clinical and sonographic assessment of fetal growth may be required for the clinician to manage these parturients.
Adult ; Down Syndrome/diagnosis ; Estriol/blood* ; Female ; Fetal Growth Retardation/diagnosis* ; Gonadotropins, Chorionic/blood ; Human ; Pregnancy ; Pregnancy Trimester, Second ; Risk ; alpha-Fetoproteins/analysis

Translational medicine is an emerging idea in current medical research area. Typically, for the purpose of bridging the gap between basic and clinical research, it not only emphasizes the urgency and necessity to break the traditional working formats, including single subject centered research team and limited cooperation among different scientific groups, but also highlights a more close and frequent interaction between basic scientist and clinician. In order to reach this goal, the theory and method of systems biology should be employed. This paper mainly focused on a central issue that how to carry out an investigation on early clinical diagnosis of xenobiotic-induced intrauterine growth retardation (IUGR) by using research concept of translational medicine and method of systems biology. Briefly, a hypothesis of common mechanism of IUGR was first proposed and subsequent validation was performed via integrating--omics (e.g. genomics, proteomics, cytomics, metabonomics/metabolomics) and molecular biology techniques. Metabonomics was further utilized to explore IUGR biomarker and establish preliminary forecasting model by bioinformatics and computational biology, which is available for early diagnosis of IUGR and make a complement to current evaluation criteria.
Biomarkers ; analysis ; Computational Biology ; Early Diagnosis ; Female ; Fetal Growth Retardation ; chemically induced ; diagnosis ; metabolism ; Genomics ; Humans ; Metabolomics ; Pregnancy ; Proteomics ; Systems Biology ; Translational Medical Research ; Xenobiotics ; toxicity

PURPOSE: This study was to investigate the clinical manifestations of FTT in children. METHODS: From March 1997 to July 1999, clinical observations were made on patients with FTT who had visited to Samsung Medical Center. Detailed histories and through physical examinations were taken, and when suspected organic FTT, basic laboratory studies were done. RESULTS: Upon the review of medical records, we investigated the clinical manifestations of 74 children, aged 1 month and 13 year 1 month. The causes of FTT were composed of either physiologic (47.8%) or pathologic (52.2%) ones. Among the physiologic FTT, were there familial short stature (FSS, 14.5%), intrauterine growth retardation (IUGR, 14.5%), constitutional growth delay (CGD, 11.6%), idiosyncrasy and prematurity. Among pathologic causes, neurologic disorders (20%) are the most common causes of FTT, and then follow by GI (13.4%), allergic and infectious disorders in decreasing order. The data showed that average caloric intake in patients with FTT was 76.2% of recommended amount. FTT patients with CGD, IUGR, and idiosyncrasy had tendency to take small foods. The FTT children with prematurity, IUGR and pathologic FTT, were short and thin for their ages. However FTT children with CGD and FSS had tendency to be thin with relatively normal heights for their ages, in comparison with those of the children with prematurity, IUGR and pathologic FTT. CONCLUSION: The diagnosis of FTT was easily obtained with simple and through medical history, physical examination, and minimal laboratory tests. In this study, organic FTT was more prevalent than physiologic one. This results indicate that early intervention is mandatory, because children may develop significant long-term sequelae from nutritional deficiency.
Child* ; Diagnosis ; Early Intervention (Education) ; Energy Intake ; Failure to Thrive* ; Fetal Growth Retardation ; Humans ; Malnutrition ; Medical Records ; Nervous System Diseases ; Physical Examination