Evidence Of Congenital Anomalies Research Articles

English

BACKGROUND Dengue fever is a vector-borne disease common in the tropics. It is known to have an adverse effect on pregnant women with unfavourable foetal outcomes. However, only a few studies are addressing this problem. Many of the studies had confounding factors such as the simultaneous occurrence of other vector-borne diseases and maternal health conditions. Therefore, the actual impact of dengue fever on pregnancy and pregnancy outcome is not clear. We wanted to study maternal and foetal outcomes in dengue positive pregnant females. METHODS This is a retrospective study done over 6 months in a tertiary care institute. Data regarding demography, obstetric history, biochemical parameters / blood investigation and pregnancy outcomes were collected and analysed. RESULTS Most of the dengue positive women presented with fever and thrombocytopenia in 44 % of cases. Obstetric complications such as preterm labour, abruption and postpartum haemorrhage (PPH) were common. Caesarean section rate was increased and the most common indication was foetal distress. The need for new-born intensive care unit (NICU) admission for new-born and foetal death was also increased. No evidence of congenital anomaly was found in the study. CONCLUSIONS Antenatal complications like preeclampsia, oligohydramnios; intrapartum complications like abruption, DIC, foetal distress and immediate postpartum complications like postpartum haemorrhage, need for blood, platelet transfusion were common in women with a history of dengue fever especially more in the low platelet group. The maternal and foetal outcomes were compromised and both required intensive care. A high index of clinical suspicion is essential in pregnant women presenting with fever and thrombocytopenia. Early diagnosis and management are essential. KEY WORDS Dengue Fever, Dengue in Pregnancy, Complications of Dengue Fever in Pregnancy

Absence of Evidence of Zika Virus Infection in Cord Blood and Urine from Newborns with Congenital Abnormalities, Indonesia.

Zika virus (ZIKV) has recently been confirmed as endemic in Indonesia, but no congenital anomalies (CA) related to ZIKV infection have been reported. We performed molecular and serological testing for ZIKV and other flaviviruses on cord serum and urine samples collected in October 2016 to April 2017 during a prospective, cross-sectional study of neonates in Jakarta, Indonesia. Of a total of 429 neonates, 53 had CA, including 14 with microcephaly. These 53, and 113 neonate controls without evidence of CA, were tested by ZIKV-specific real-time reverse transcription polymerase chain reaction (RT-PCR), pan-flavivirus RT-PCR, anti-ZIKV and anti-DENV IgM ELISA, and plaque reduction neutralization test. There was no evidence of ZIKV infection among neonates in either the CA or non-CA cohorts, except in three cases with low titers of anti-ZIKV neutralizing antibodies. Further routine evaluation throughout Indonesia of pregnant women and their newborns for exposure to ZIKV should be a high priority for determining risk.

Incidence of furcate umbilical cord

Abstract Background : Placenta along with its umbilical cord is a vital organ for maintaining pregnancy and promoting normal foetal development. Foetal outcome can be adversely influenced by pathological changes in placenta and also by the variation in the site of attachment of umbilical cord. Aims and Objectives : To study the incidence of furcate umbilical cord insertion over placental chorionic plate in normal full term pregnancy. Materials and methods : This study was conducted in the department of Anatomy Government Medical College Haldwani. 100 freshly delivered placentae were collected from Dr. Sushila Tiwari Government hospital Haldwani. The sample was further categorized according to the parity of mother into two groups primipara (n=39) and multipara (n=61). Placentae included in the study were obtained from full term pregnancy without any complication like diabetes, hypertension etc. Results : The incidence of furcate umbilical cord in the present study was 2.6% in primipara group and 3.3% in multipara group. Conclusion : Variation in the site of insertion of umbilical cord are thought to result from process known as "Trophotropism" in which the chorionic frondosum or the early placenta migrates with advancing gestation to ensure better blood supply from more richly vascularised area. The overall incidence of furcate cord in this study is 3%. We have noticed one furcate cord (2.6%) in primipara group (n=39) and two furcate cords (3.3%) in multipara group (n=61). The neonates delivered were perfectly healthy without any evidence of congenital anomalies.

Artificial oocyte activation with CALCIUM IONOPHORE (A+23187) following ICSI fertilization failure

To assess the CALCIUM IONOPHORE (A+23187) use in patients with total failure or low fertilization rate on previous ICSI cycle/s. Retrospective, case- control study. Patients with a history of one or more ICSI cycle/s with low (<50%) or total fertilization failure who underwent a subsequent cycle of ICSI+ CALCIUM IONOPHORE (A+23187) were included. We enrolled 45 patients under 38 years old, with FSH< 10 UI and more than 4 mature oocytes retrieved, from January 2009 to December 2014. Data were analyzed using the Statistical Package for the Social Sciences (SPSS 18.0). Fertilization rate was significantly higher following the utilization of CALCIUM IONOPHORE (A+23187) (case group) when compared with the previous cycle/s (control group), with a mean increase of 34% (±28%) [IC 95% 25, 84- 42,9] (p<0,001). In the 75% of the patients, the fertilization rate increased over 50% and in 46% of the cases, over 70%. Furthermore, previous cycle/s fertilization rate was divided in 3 categories according to the mean fertilization rate was: 0 to 20% (category 1), 21 to 35% (category 2) and 36 to 49% (category 3). In the 3 groups, a significant increase of the fertilization rate was observed with a mean difference of 44,69%, 30,55% and 31,76% respectively. (p=0,003, p< 0,001, p< 0,001)Secondary outcomes: cleavage rate: 87%. Biochemical pregnancy rate: 48%; clinical pregnancy rate: 35%; implantation rate: 17%; abortion rate: 27%; live birth rate: 26%, term birth rate: 82%; mean neonatal weight: 2875 grams (±759 grams). Cesarean section rate was 72%. No congenital anomalies were found.Complete information of the previous cycle/s was available only in 37 cases in which a comparative sub analysis between the previous cycle/s and ICSI + CALCIUM IONOPHORE (A+23187) cycle was performed. No significant increase of the cleavage rate (76,44% vs 85,86%) (p=0,114) was found. Biochemical pregnancy rate: 13,7% vs 42,8% (p=0,028); clinical pregnancy rate: 6,89% vs 31,4% (p=0,03); implantation rate: 3% vs 15% (p=0,03); live birth rate: 3,5% vs 20% (p=0,10); abortion rate: 50%vs 36,3% (p=0,67). CALCIUM IONOPHORE (A+23187) following ICSI fertilization failure, showed to be useful in increasing the fertilization rate with acceptable clinical outcomes and no evidence of congenital anomalies. In addition, we evidenced that the clinical outcomes were improved after the utilization of CALCIUM IONOPHORE (A+23187) as showed in the comparative sub analysis, however, no increase of the live birth rate, was found.On the other hand, the use of CALCIUM IONOPHORE (A+23187) did not show to be beneficial in all the patients included in the study. This could be due to an oocyted- related fertilization failure or even though another sperm- related factor different from the incapacity of the sperm to activate the oocyte.

Successful Pregnancy In APL Patients Treated According to the AIDA Protocol.

AbstractAbstract 1037 BackgroundAmong all the AML subtypes, APL has the distinction of being the most curable. The median age at diagnosis is 40 years, which is younger than with other AML subtypes. The fact that APL is more common in younger patients increases the likelihood that it may occur during fertile age. The introduction of ATRA and ATO has substantially modified the outcome of APL: in two successive studies 94% of patients achieved CR and the 6-yr OS rates (PETHEMA and GIMEMA) were about 80%.ATRA is highly effective in APL patients, but adverse effects such as retinoic acid syndrome, arrhythmias, headache, rash, dizziness have been reported. Moreover, retinoids are known to be teratogens and increased rates of spontaneous abortion and major fetal abnormalities have been reported. Most of the cases reported suggest that ATRA is relatively safe for both mother and fetus when used in the second and third trimesters. By contrast, when it was used in the first trimester, a negative foetal outcome was reported. No data have yet been reported on the outcomes of pregnancies in young patients with APL, occurring during CCR following ATRA-including chemotherapy regimens. MethodsHerein we report 20 female patients who successfully conceived 21 healthy fetuses (two twins) and the outcomes in the patients and newborns. Clinical and demographic features of the 20 patients were as follows: median age at onset 25 yr. (range 18–35); according to the FAB classification 18 were M3 and 2 M3v, 8 at low, 10 intermediate and 2 high risk, with 13 bcr1, 1 bcr2 and 6 bcr3 PML/RARA fusion gene type. All the patients were treated according to the AIDA protocol, all achieved CR after induction and Complete Molecular Remission (CMR) after the 3rd consolidation cycle. ResultsTwenty successful pregnancies occurred, all in patients in CR (2 in second CR), off therapy for a median of 57 months (range 6–120). Nine pregnancies ended with spontaneous vaginal deliveries and 11 by cesarian section; resulting in the birth of 21 live, healthy newborns, without evidence of congenital anomalies. All 21 children showed normal development and growth during their respective follow-up periods; to date they are all in good health, median age 24 months (range 8–54). ConclusionsThe inclusion of ATRA in chemotherapy regimens for the treatment of APL had significantly improved the prognosis, changing the natural history of the disease, by increasing the incidence of CR, resistant disease being virtually absent, prolonging OS and DFS, and improving the quality of the CR, in terms of the hematologic and molecular response. The resulting prolongation of life expectancy allows these patients, mainly those off therapy, to resume their normal life style, including fulfilling a natural desire for children. The low median age at onset increases the probability of pregnancy post-chemotherapy.The long-term effects of ATRA-including regimens on fertility and on the newborn are not yet known. In our experience, pregnancy is feasible and does not pose additional risks. Disclosures:No relevant conflicts of interest to declare.

Prune belly syndrome in uniovular twin: a new finding or a case of improper documentation of data? Short report

A case of Prune Belly Syndrome associated with High Anorectal Anomaly and Unilateral Lung Cyst occurring in a uniovular twin is hereby presented. The twin brother has no clinical evidence of congenital anomaly in any system. We therefore ask; is this a new finding or a case of improper documentation of data. Keywords : Prune Belly Syndrome Uniovular twins. Tropical Journal of Medical Research Vol. 10 (2) 2006: pp. 26-27

Urinary System Birth Defects in Surgically Treated Infants in Sarajevo Region of Bosnia and Herzegovina

Congenital anomalies of the urinary system are relatively common anomalies. In Bosnia and Herzegovina there is no existent unique evidence of congenital anomalies and registries. The aim of this study was to obtain the frequency of different urinary tract anomalies types and their sex distribution among cases hospitalized in the Department of Pediatric Surgery of the University of Sarajevo Clinics Centre, Bosnia and Herzegovina, during the period from January 2002 to December 2006. Retrospective study was carried out on the basis of clinical records. Standard methods of descriptive statistics were performed for the data analysis. Among 289 patients that were surgically treated 62,37% of the patients were male patients, while 37,63% were female patients. Twenty nine different urinary system anomalies types were found in this study. These were: vesicoureteral reflux (99 cases or 30,75%), hypospadias (62 cases or 19,26%), pelviureteric junction obstruction (42 cases or 13,04%), megaureter (35 cases or 10,87%), duplex pelvis and ureter (16 cases or 4,97%), bladder diverticulum (8 cases or 2,48%), ureterocoele (7 cases or 2,17%), stenosis of the external urethral opening (6 cases or 1,86%), ectopic kidney, duplex kidney and pelvis (each 5 cases or 1,55%), polycystic kidneys and urethral stricture (each 4 cases or 1,24%), multicystic kidney (3 cases or 0,93%), kidney agenesis, ureter agenesis, urethral diverticulum, ectopic ureter, horseshoe kidney and fetal kidney (each 2 cases or 0,62%), renal aplasia, urethral atresia, renal cyst, urachal cyst, epispadias, bladder exstrophy, renal hypoplasia, renal malrotation and Prune-Belly syndrome (each 1 case or 0,31%). According to this study, urinary tract anomalies were more common in male than in female patients (62,37%). Generally, the most frequent anomaly type was vesicoureteral reflux in total number of 99 cases, and in females (66 cases), but hypospadias was the most common anomaly in males (62 cases). The anomalies of other systems associated with urinary system anomalies were found in ten cases. These were: cryptorchidism, congenital inguinal hernia, open inner inguinal ring, uterus bicornis unicollis and one case of multiple anomalies.

Serum alpha-fetoprotein (AFP) levels in breastfed infants with prolonged indirect hyperbilirubinemia

The aim of this prospective study was to verify normal serum AFP (alpha-fetoprotein) levels in jaundiced breastfed infants with indirect hyperbilirubinemia. Methods The study was conducted in clinically jaundiced breastfed infants, 20, or more, days old, referred to our outpatient ambulatory. Inclusion criteria were: birth at term after a physiologic pregnancy, with an Apgar score > 7 at 1 and 5 min, no evidence of congenital anomalies or diseases, direct bilirubin < 1 mg/dl, normal values of α-1-antitrypsin, glucose-6-phosphate dehydrogenase, thyroid stimulating hormone, triiodothyronine, tyroxine, and normal growth. 30 non-jaundiced breastfed infants age–weight-matched, were used as control group. Results 98 jaundiced breastfed infants satisfied inclusion criteria. Their mean serum concentration of AFP was significantly higher than control infants (3548 vs 1095 ng/ml, p < 0.001). Serum AFP levels of jaundiced infants were directly associated with serum indirect bilirubin and γ-glutamyltranspeptidase concentrations. Conclusions The most probable explanation of elevated AFP in jaundiced breastfed infants may be the presence in human milk of one or more factors which affect hepatocyte growth and/or function. Based on our finding we demonstrated that in jaundiced breastfed infants normal range of serum AFP levels are higher than previously published data for healthy infants. Our data can be useful for a right interpretation of AFP levels in breastfed infants with prolonged jaundiced and may be used to avoid unnecessary investigations.

Reproductive function after conservative surgery and chemotherapy for malignant germ celltumors of the ovary

Objective To analyze the long-term effects on reproductive function of fertility-preserving treatment for malignant germ cell tumors of the ovary. Methods A case series analysis was performed on patients with malignant germ cell tumors of the ovary seen or consulted on at our institution between 1975 and 1995. Follow-up information regarding reproductive function was obtained by a mailed or telephone questionnaire. Results A total of 106 patients with malignant germ cell tumors of the ovary were included in the study. Twenty patients were excluded because of loss of follow-up or death. For the remaining 86 patients, the median follow-up was 122 months (24–384 months). Fertility-preserving surgery was performed in 64 patients. Thirty-eight have attempted conception and 29 have achieved at least one pregnancy (76%). Among the patients who conceived, 20 were International Federation of Gynecology and Obstetrics (FIGO) stage I, one was stage II, and eight were stage III. Sixteen received vincristine, actinomycin D, and cyclophosphamide; three received cisplatin, vinblastine, and bleomycin; three received bleomycin, etoposide, and cisplatin; one received etoposide and cisplatin; four did not receive any chemotherapy; and two were treated with other combinations. Among the nine patients who could not conceive, seven were FIGO stage I and two were stage III. Four of these patients received vincristine, actinomycin D, and cyclophosphamide; three received etoposide and cisplatin; one received cisplatin, vinblastine, and bleomycin; and one patient received no chemotherapy. A total of 38 children were born to these women. Follow-up was available for 16 of these children, who have no evidence of congenital anomalies. Conclusion Fertility-preserving surgery followed by chemotherapy, even in advanced-stage malignant germ cell tumors of the ovary, is effective in conserving the reproductive function of women with malignant germ cell tumors of the ovary.

Leukemoid reaction and chronic lung disease in infants with very low birth weight

Objectives: To analyze the relationship between the leukemoid reaction and chronic lung disease in very-low-birth-weight (VLBW) infants.Methods: Neonates born weighing less than 1500g without evidence of congenital anomalies and admitted to our hospital from October 1985 to December 1999 comprised our study. Leukemoid reaction was defined as a peripheral white blood cell (WBC) countof ≥ 50 × 103/μl. The infants who demonstrated a leukemoid reaction formed the study group, while the remainder formed the control group. The relationship between neonatal variablesand WBC counts was studied.Results: Fourteen of the 486 infants demonstrated WBC counts of ≥ 50 × 103/μl, with an incidence of 2.9%. Univariate analysis demonstrated asignificant association between a leukemoid reaction and chronic lung disease following intrauterine infection.Conclusion: A leukemoid reaction was observed in 2.9% of VLBW infants in our neonatalintensive care unit. A significant association was demonstrated between the leukemoid reaction and chronic lung disease following intrauterine infection.

Neurodevelopmental outcome of very low birth weight children requiring chest compressions immediately after birth. † 1160

There is a small body of literature documenting the outcome of premature infants surviving neonatal resuscitation much of which is pessimistic. We investigated the outcome of very low birth weight infants who had chest compressions (CC) in the delivery room compared to infants of similar characteristics who did not require that level of initial intervention. Methods: A search of the computerised Newborn Follow Up database identified all infants meeting the following criteria: born at the Health Sciences Centre in 1992-94, birth weight < 1250g; no evidence of congenital anomalies or maternal substance abuse likely to affect neurodevelopmental outcome; a minimum of 12 months follow up. Chest compressions were initiated following established guidelines for neonatal resuscitation. The study group consisted of survivors of CC in the delivery room. The control group consisted of all other infants meeting the above criteria. The data base contains antenatal and perinatal data extracted from the hospital chart and follow up data collected prospectively. Results: Of the 163 infants born weighing <1250g in the study time period 36(22%) required CC in the delivery room. Mortality for this group was higher(53% vs 24%, p<0.001). The 17 survivors in the CC group were compared to 63 survivors in the non CC group who met the inclusion criteria. There were no differences in birth weight (881±179g vs 962 ±186g) or days of mechanical ventilation(21±13 vs 15 ±22) between the two groups although the CC group was born at a more premature gestation (27.2±1.6 vs 28.1±2.5, p< 0.04) and stayed longer in hospital (99±25 vs 80±39, p<0.01). There were no significant differences in the rates or severity of intraventricular hemorrhage, seizures, hearing loss or clinical diagnosis of cerebral palsy between the two groups. The CC group had a significant increase in retinopathy of prematurity of grade 3 or 4 (37% vs 17%, p<0.03). The gross motor, fine motor, adaptive and language developmental quotients as assessed using the Gessel Scales showed no significant differences between the two groups. Conclusion: In contrast to previous literature our data suggest that infants that require cardiac compressions at birth, although having a higher mortality have a comparable neurodevelopmental outcome to those that do not.

Bilateral choroid plexus cysts in trisomy 21

Whether karyotyping is indicated in a fetus with choroid plexus cysts who is otherwise structurally normal is still controversial. Many authors have suggested basing the decision on cyst size, bilaterality, persistence with advancing gestational age, and association with other anomalies. We report a case of large bilateral choroid plexus cysts in a fetus with trisomy 21 who had no evidence of congenital anomalies or ultrasonographic signs of Down syndrome. Cyst sizes diminished by half over a 3-week period of follow-up. It appears that diminishing size alone should not be considered sufficient reassurance about the normality of the fetal karyotype. A similar case has been previously reported, and it is conceivable that choroid plexus cysts are associated not only with trisomy 18 but also with trisomy 21.

Cytogenetic findings in siblings with a myelodysplastic syndrome

A brother and sister, both in their third decade, presented 6 months apart with severe pancytopenia. Bone marrow examination demonstrated morphologic changes, characteristic of the myelodysplastic syndromes, subtype refractory anemia with excess of blasts; cytogenetic studies revealed complex but different karyotypic abnormalities in both siblings. No history of exposure to mutagenic agents was obtained; there was no evidence of congenital anomalies in the family. Both siblings died within 18 months of diagnosis from complications related to their disease. This report describes the clinical course and discusses the cytogenetic findings for both siblings.