Abnormal Pregnancy History Research Articles

Construction and implications of structural equation modeling network for pediatric cataract: a data mining research of rare diseases

BackgroundThe majority of rare diseases are complex diseases caused by a combination of multiple morbigenous factors. However, uncovering the complex etiology and pathogenesis of rare diseases is difficult due to limited clinical resources and conventional statistical methods. This study aims to investigate the interrelationship and the effectiveness of potential factors of pediatric cataract, for the exploration of data mining strategy in the scenarios of rare diseases.MethodsWe established a pilot rare disease specialized care center to systematically record all information and the entire treatment process of pediatric cataract patients. These clinical records contain the medical history, multiple structural indices, and comprehensive functional metrics. A two-layer structural equation model network was applied, and eight potential factors were filtered and included in the final modeling.ResultsFour risk factors (area, density, location, and abnormal pregnancy experience) and four beneficial factors (axis length, uncorrected visual acuity, intraocular pressure, and age at diagnosis) were identified. Quantifiable results suggested that abnormal pregnancy history may be the principle risk factor among medical history for pediatric cataracts. Moreover, axis length, density, uncorrected visual acuity and age at diagnosis served as the dominant factors and should be emphasized in regular clinical practice.ConclusionsThis study proposes a generalized evidence-based pattern for rare and complex disease data mining, provides new insights and clinical implications on pediatric cataract, and promotes rare-disease research and prevention to benefit patients.

Association of Maternal Serum 25-hydroxyvitamin D Concentrations in Second Trimester with Delivery Mode in A Chinese Population

Objective: To determine the maternal serum 25-hydroxyvitamin D [25(OH)D] concentrations in a Chinese population and investigate its associations with subsequent delivery mode by studying 1924 unrelated pregnant women.Methods: The serum 25(OH)D concentrations was measured by euzymelinked immunosorbent assay (ELISA). Simultaneously, maternal information and subsequent delivery mode were collected. Logistic regression analysis was performed to assess the associations between 25(OH)D concentrations and caesarean section.Results: The median (IQR) serum concentration of 25(OH)D for the total subjects was 43.4 (35.2-56.9) nmol/L. Among them, 1225 (63.7%) women were in the status of 25(OH)D deficiency (< 50.0 nmol/L). The 25(OH)D concentrations showed significant variation by body mass index (BMI), parity and season of sampling. Women with caesarean section was older, and with higher BMI and rate of abnormal pregnancy history, suggesting advanced age, obesity and abnormal pregnancy history may be the risk factors for the subsequent caesarean section. Compared with 25(OH)D from 50.0 to 74.9 nmol/L, women with low 25(OH)D concentrations (< 50.0 nmol/L) was not significantly associated with caesarean section. Only in the subgroup of the women without abnormal pregnancy history, higher 25(OH)D (> 75.0 nmol/L) concentrations could significantly decrease the risk of caesarean section.Conclusion: Vitamin D deficiency is a quite serious problem in Chinese pregnant women. There is no evidence that the maternal serum 25(OH)D concentrations is associated with increased risk of caesarean section.

TORCH serologic screening in fertile women and infants and its clinical values from 2008 to 2015

Objective To retrospectively study the serum IgG and IgM antibodies against toxoplasma, rubella virus, cytomegalovirus and herpes simplex virus type 1& 2 in various populations, and analyze the clinical values. Methods From 2008 to 2015, 2 661 pregnant women, 324 infertile women, 2 492 women with abnormal pregnancy history, 623 women with recent abnormal pregnancy, 261 infants with intrauterine growth retardation and other diseases, 170 women for preconceptual examination, and 702 women for physical examination in Beijing were included . Commercial EIA kits were used to detect serum IgG and IgM antibodies to toxoplasma, rubella virus, cytomegalovirus and herpes simplex virus type 1& 2. Positive reactions of IgM antibodies to any pathogens were re-tested with another kind of commercial EIA kit. PEMS3.1 software was used for statistical analysis. Results The prevalence of serum IgG or IgM antibodies against toxoplasma, rubella virus, cytomegalovirus and herpes simplex virus type 1& 2 were found within 0.7%-1.6%(0-1.2%), 85.3%-92.0% (0.4%-2.7%), 89.1%-94.9% (0.7%-1.7%), 74.8%-86.0% (0-0.7%), 8.1%-17.4% (0-4.1%) respectively in the studied population groups.The prevalence of TORCH IgG and IgM antibodies were not found to be higher in both populations with past suspicious exposure (infertile women and women with abnormal pregnancy history) and recent suspicious exposure (women with recent abnormal pregnancy and infants with intrauterine growth retardation and other diseases) than that in pregnant women and women for preconceptual and physical examination. Conclusion No associations between TORCH infections and the suspicious exposure were found in the populations above.(Chin J Lab Med, 2016, 39: 281-285) Key words: Toxoplasma; Rubella virus; Cytomegalovirus; Simplexvirus; Retrospective studies

Étude de la faisabilité et de la valorisation de l’échographie focalisée dans un cadre d’explorations fonctionnelles extra-hospitalières pour des grossesses à risque

To assess the clinical, legal, and technical roles of ultrasound in an outpatient pregnancy assessment clinic, while evaluating the feasibility for these consultations to be performed at home. We prospectively assessed all consultations from April 3to May 31, 2013, at the outpatient pregnancy assessment clinic of La Pitié-Salpêtrière, Paris, France. We recorded all procedures and the number and type of ultrasound examination performed, according to their indication. For each consultation, we evaluated whether the routine protocols were sufficient or if the attending obstetrician was asked for advice. Finally, we asked the patients if they would prefer having this consultation in a home-care setting. We recorded 429consultations (n) for 234patients (Np). Indications were diabetes (n=106/Np=59), assessment of fetal growth (n=90/Np=43), another single indication (n=106/Np=59), multiple indications (n=46/Np=12), term pregnancies (n=39/Np=30), and a history of abnormal pregnancy (n=27/Np=10). CTG was performed for 91% of consultations, blood samples for 10%, and ultrasound for 88%, which included amniotic fluid evaluation (79%), umbilical Doppler (69%), fetal biometries (36%), uterine artery Doppler (0.7%), cervical length (2%), suspicion of breech presentation (4%) and placenta position (0.7%). Most of these ultrasound examinations could not be financially value if performed by a midwife. Routine protocols were sufficient for the management of 68% of these consultations, 26% required the attending obstetrician, and 6% were finally low-risk. Performing these consultations in a home-care setting was medically possible and requested by the patient for 16% of consultations (6% of patients). These are encouraging results to experiment the outpatient pregnancy assessment clinic in a home-care setting, although the financial valorization system in France is poorly adapted.

Amniotic cell karyotyping in pregnant women with a history of abnormal pregnancy

Objective To study the clinical significance of chromosome karyotyping in pregnant women with a history of abnormal pregnancy. Methods The fetal chromosome karyotypes of 1 193 pregnant women with a history of abnormal pregnancy in Peking University First Hospital from January 4, 2005 to December 3 I, 2013 were analyzed. According to the etiology of their previous abnormal pregnancy, these women were divided into four groups： 273 women had children with inherited metabolic disorders or single-gene genetic diseases （ group A ） , 81 women had children or fetuses with chromosome abnormalities （ group B ） , eight cases had an abnormal chromosomal karyotype in either husband or wife （ group C ） , and 833 women had abnormal pregnancy of unknown causes （ group D ）. Results Forty-eight [4.0% （ 48/ 1 193 ） ] and fetuses were found to have abnormal chromosomal karyotypes, including 26 cases of chromosome polymorphism variations and 22 cases of numerical and structural abnormalities （ four cases of trisomy 21, four cases of numerical sex chromosome abnormalities, three cases of trisomy 18, three cases of extra small chromosome mosaicism, three cases of reciprocal translocation, one case of Robertsonian translocation, one case of chromosome six inversion between the arms, one case of chromosome three inversion between the arms, one case of mosaicism of trisomy 14 and one case of structural abnormality of chromosome 14 ） . In group A, four cases （ 1.5% ） of chromosomal abnormalities of clinical significance and four cases of chromosome polymorphism variations were detected. Meanwhile, 61 fetuses with inherited metabolic disorders or single- gene genetic diseases and two eases of gene mutation carriers were detected in group A, but among whom, there were no abnormal chromosome karyotype cases. In group B, two cases （ 2.5% ） of chromosomal abnormalities were found. In group C, two cases （ 2/8 ） of reciprocal translocation were found, whose karyotypes were the same as the parents. In group D, three cases of trisomy 21, three cases of trisomy 18, two cases of extra small chromosome mosaicism and two cases of numerical sex chromosome abnormalities were found. All the mothers in this group were of advanced age. Four cases of structural abnormalities and 22 cases of chromosome polymorphism variations were also found in this group, chromosomal analysis was subsequently performed in those couples, and found that the abnormal chromosomal karyotypes in the fetuses were the same as those in the parents. Conclusions Appropriate prenatal cell genetic diagnostic methods should be chosen according to the causes of abnormal pregnancy history. Key words: Chromosome aberrations; Karyotyping; Prenatal diagnosis; Amniotic fluid; Amniocentesis

Discontinuous gradient centrifugation (DGC) decreases the proportion of chromosomally unbalanced spermatozoa in chromosomal rearrangement carriers

Can the proportion of unbalanced spermatozoa in chromosomal rearrangement carriers be decreased through the use of discontinuous gradient centrifugation (DGC)? DGC significantly decreases the proportion of genetically unbalanced spermatozoa in chromosomal rearrangement carriers. Chromosomal rearrangement carriers present with a certain proportion of unbalanced gametes, which can lead to miscarriages or malformations in the offspring. There is presently no known way to select the balanced spermatozoa and use them for IVF. The proportion of unbalanced spermatozoa after DGC was compared with that before DGC in 21 patients with a chromosomal rearrangement. At least 500 spermatozoa were analysed per observation. Twenty-one male patients with a chromosomal rearrangement were included in this prospective study. They initially consulted for infertility, recurrent miscarriages or a history of abnormal pregnancy. The samples were split into two, with one part undergoing DGC and the other being immediately fixed. Fluorescence in situ hybridization was performed to establish the chromosome segregation pattern of each spermatozoon. DGC significantly decreased the proportion of unbalanced spermatozoa in all but 1 of the 21 chromosomal rearrangement carriers (P < 0.05). Although DGC reduces the proportion of unbalanced spermatozoa in ejaculates from patients with chromosome rearrangements this elimination is only partial and some abnormal spermatozoa remain. Means to exclude these spermatozoa to ensure that only balanced ones are used in IVF remain to be discovered. The motility and morphology of the sperm before and after DGC were not measured. Used in IVF or intrauterine insemination, DGC could decrease the chance that a man carrying a chromosomal rearrangement will father an abnormal fetus.

45,X mosaicism in northeast China: a clinical report and review of the literature

PurposeTo explore the prevalence and clinical features, especially the reproductive function, of 45,X mosaicism patients in northeast China.MethodsGTG-banding was performed on a series of 2,250 patients from our genetic counseling clinic. Each of these patients underwent a physical examination and was interviewed about their medical history and reproductive problems. Literature on 45,X mosaicism was accessed using PubMed and reviewed.ResultsThe prevalence of 45,X mosaicism in northeast China is 0.36 % (8/2250), and the mosaic karyotype of our study accounted for 61.54 % (8/13) of Turner syndrome cases. This is comparable with studies from Asia, Europe, South America and other regions. The affected patients showed genital abnormalities, abnormal pregnancy or infertility.Conclusion45,X mosaicism is commonly seen in the genetic counseling clinic. Extensive cytogenetic assessment may improve the detection rate in patients with congenital dysplasia, or history of abnormal pregnancy or infertility. Karyotyping plays a key role in prognosis and assisted reproduction or early surgical treatment.

A rare chromosomal abnormality inherited from the mother in a boy conceived after intracytoplasmic sperm injection: a case report

Couples rarely undergo a karyotype evaluation prior to either natural conception or receiving assisted reproductive technology (ART) if there is no history of abnormal pregnancy or other indicative signs. However, many chromosomal anomalies are not clinically obvious and do not preclude fertility nor do they cause miscarriage. Carriers may then conceive and produce a genetically abnormal child, and the defect is not detected until after birth.

Neonatal herpes simplex type II virus infection complicated with meningitis and virus-associated hemophagocytic syndrome

A 14-day-old neonate was transferred to our university hospital because of respiratory distress and mild disturbance of consciousness. He had no history of abnormal pregnancy or delivery, but had developed apnea at 6 days old. Thereafter, respiratory distress progressed and his condition deteriorated. On admission to our hospital, several vesicles were found on the left upper arm, and moderate hepatomegaly was also present. Herpes simplex virus (HSV) type II genome was detected from serum, spinal fluid, and bone marrow. Laboratory examinations revealed typical abnormalities of disseminated intravascular coagulation, increased levels of serum ferritin, aspartate aminotransferase, and lactate dehydrogenase. Bone marrow aspiration demonstrated activated macrophages and hemophagocytosis. Spinal tap revealed numerous mononuclear cells. Meningitis and virus-associated hemophagocytic syndrome (VAHS) due to systemic HSV type II infection were thus diagnosed. Acyclovir (60 mg/kg/day) and vidarabine were promptly administered. Dexamethasone palmitate and intravenous cyclosporine were also administered for systemic inflammation due to VAHS. Finally, these aggressive therapies rescued the patient without any sequelae. In general, neonatal systemic HSV infection is life-threatening and results in poor intact survival. Our case report suggests that not only antiviral treatment for HSV, but also anti-inflammatory treatment including steroid and cyclosporine should be considered from the early phase of neonatal systemic HSV infection.

Relationship between Recurrent Miscarriage and Insulin Resistance

Aims: To investigate the differences in insulin resistance between women with recurrent miscarriage and those with normal pregnancy. Methods: Pregnant women with a history of recurrent miscarriage were included in the patient group (n = 97), while those with no history of abnormal pregnancy were included in the control group (n = 52). Both groups consented to undertake an oral glucose tolerance test and insulin-releasing test between the 5th and 13th weeks of pregnancy. Results: (1) Levels of fasting plasma glucose, fasting plasma insulin, homeostasis model assessment of insulin resistance index, and homeostasis model assessment β function were not statistically significantly different (p < 0.05) between the two groups. (2) The area under the curve of glucose and area under the curve of insulin were higher in the patient group than in the control group. The composite insulin sensitivity index of the patient group was lower than that of the control group. The differences in these three parameters between the groups were statistically significant (p < 0.05). Conclusion: Women with a history of recurrent miscarriage are at an increased risk for insulin resistance during the first trimester of a new pregnancy.

The polymorphisms of 5, 10-methylenethtrahydrofolate reductase (MTHFR C677T and A1298C) and methionine synthase reductase (MTRR A66G) gene as maternal risk factors for fetal aneuploidy

(MTHFR C677T AND A1298C) AND METHIONINE SYNTHASE REDUCTASE (MTRR A66G) GENE AS MATERNAL RISK FACTORS FOR FETAL ANEUPLOIDY HYUNMEE RYU, DO-JIN KIM, MOON-YOUNG KIM, SO-YEON PARK, JIN-WOO KIM, SHIN-YOUNG KIM, JAE-HYUG YANG, JOUNG-YEOL HAN, JOO OH KIM, JINHOON CHUNG, Samsung Cheil Hospital and Women’s Healthcare Center, Sungkyunkwan University School of Medicien, Obstetrics and Gynecology, Seoul, Korea, South Korea, Samsung Cheil Hospital and Women’s Healthcare Center, Laboratory of Medical Genetics, Seoul, Korea, South Korea OBJECTIVE: The purpose of this study was to address the association of MTHFR (C677T/A1298C) and MTRR (A66G) polymorphisms as maternal risk factors for fetal aneuploidy. STUDY DESIGN: We studied the presence of MTHFR C677T/A1298C and MTRR A66G in an aneuploidy group (n = 30) who had fetal aneuploidy and in a control group (n = 78) who had given birth to at least two healthy children without a history of miscarriage or abnormal pregnancy. To determine the polymorphism of these enzymes, we performed PCR/RFLP (Restriction Fragment Length Polymorphism). RESULTS: There were no statistical differences in the prevalence of MTHFR 677 variant T allele (P = .519) and 1298 variant C allele (P = .051) in both groups. Frequency of MTRR G allele in aneuploidy group was higher than in control group. Mother with MTRR 66 AG mutation had a 2.9-fold higher risk of having a fetus with aneuploidy than mother without the G substitute (odds ratio: 2.9; 95% CI: 1.5-5.3; P = .001). CONCLUSION: This study suggests that there was an increased risk of fetal aneuploidy in mother carriers of MTRR G allele, not in MTHFR C677T and A1298C. The MTRR A66G variant may be a significant risk factor for producing a child with chromosome aneuploidy.

A new lymphocyte serotyping using cytotoxic antibodies from secondary recurrent aborters and its application in cases of recurrent abortion and infertility

Using nonanti-human lymphocyte antigen (HLA) lymphocytotoxic antibodies derived from women with an abnormal pregnancy history including secondary recurrent abortion, a new series of serotyping was performed on lymphocytes from 37 couples (74 individuals), and the compatibility between the couples shown by the typing was investigated. The data demonstrated that both couples with primary recurrent abortion and infertile couples with repeated failure of embryo transfers after in vitro fertilization showed significantly close reaction patterns between partners than normal child-bearing couples by principal component factor analysis. It was concluded that this serotyping provides useful information on histocompatibility in the field of pregnancy immunology and that some cases of infertility because of implantation failure, as well as primary recurrent abortion, might be caused by underlying immunogenetical problems.

Relation between CT patterns, clinical findings and etiological factors in children born at term, affected by congenital hemiparesis.

In order to examine if specific findings from CT correlate with specific clinical or neurological findings, 30 children, 5 to 16 years old, born at term, affected by congenital hemiparesis without intellectual impairment, were submitted to neurofunctional and psychological assessment and examined by CT. 28 of the 30 children had pathological CT. Two morphological CT patterns were found: A) Cavity in the cortex and underlying subcortical white matter (11 cases); B) Unilateral ventricular enlargement and paraventricular lesions (17 cases). CT was normal in two cases. In our children, born at term, no statistical correlation between CT patterns and anamnestic data was found as described in other studies, although in the patients with cortical-subcortical lesions, there was a slight prevalence of a history of perinatal complications, and in the patients with paraventricular lesions there was an uneventful history or abnormal pregnancy history. The relation between specific CT patterns (type A and B) and specific clinical dysfunction is not statistically evident, (unless for astereognosis and type A CT pattern). However, the patients with cortical-subcortical lesions showed a slight prevalence of a lower function of the impaired hand, and a higher percentage of an I.Q. of less than 90, than the group with unilateral ventricular enlargement. No relation was found between CT lesional pattern and epilepsy. The absence of correlation between morphological aspects and clinical findings could be explained by the complexity of structural changes and remodelling properties of the central nervous system, following prenatal and perinatal brain damage.

Maternal perinatal risk factors and child abuse

A retrospective matched pair study was designed to compare maternal perinatal factors such as abnormal pregnancy history and labor and delivery experience in families who subsequently were reported as physically abusive to one or more of their children as compared to non-abusive families. The study population consisted of the mothers of 532 children reported to the Baltimore (Maryland) Department of Social Services as physically abused during the years 1975–1977. The comparison group was handmatched to the study group from State of Maryland birth certificates on the basis of the abused child's birth year and sex, maternal race, education and hospital of delivery1. The study population was 67% black with a mean maternal education of 10.5 completed years. The abused children were 59% male with 48% less than 2 years of age. Results indicated that selected medical definitions of abnormal pregnancy, labor and delivery did not identify families at differential risk of maltreatment. However, mothers in maltreating families were younger, had shorter birth intervals, less prenatal care and were significantly more likely to have had a stillbirth or reported abortion or a prior child death. Study limitations are addressed as are suggestions for future research.

Screening criteria for high-risk gestational diabetic patients

Clinical history, including previous abnormal pregnancy history, birth of a large baby, maternal obesity, and family history of diabetes, is demonstrated to be an insensitive screening factor in the selection of gestational diabetic patients. A screening blood sugar test and the age of the prenatal patient appear as the two most important of the factors studied for the identification of the gestational diabetic patient. A one-hour screening blood sugar test following oral ingestion of 50 Gm. of glucose and a glucose tolerance test on those patients with levels exceeding 130 mg. per 100 ml. of whole blood * are recommended. For the gestational diabetic patient at special risk for a current pregnancy, this procedure should be carried out in all patients 25 years or older.

Aetiological aspects of febrile convulsions. Pregnancy and perinatal factors.

The birth histories of 132 patients admitted to hospital with convulsions in association with febrile illnesses are compared with those of 180 of their sibs. Patients experienced significantly more often threatened abortion, maternal medication during pregnancy, caesarean section, and moderately low birthweight. Male patients had a significant increase in fetal distress, and, in specified circumstances, in neonatal feeding difficulties. Female patients were born significantly more often to very young or elderly mothers. At least one significant factor was recorded in 61% of patients. It is concluded that an abnormal pregnancy or birth history predisposes to febrile convulsions.