Absence Of Structural Malformations Research Articles

Analysis of cystic hygroma diagnosed in the first trimester: Single-center experience

Objective:To evaluate the obstetric outcomes of fetuses with cystic hygroma other than karyotype abnormalities and structural malformations.Material and Methods:We conducted a retrospective study based on the review of medical records of pregnant women in whom ultrasonographic diagnosis of fetal cystic hygroma was established in the first trimester from January 2014 to October 2018. All patients were offered genetic counselling and prenatal invasive diagnostic procedures to obtain fetal karyotype. For ongoing pregnancies fetal echocardiography and detailed second trimester sonographic anomaly screening was performed by a perinatologist/pediatric cardiologist. The demographic characteristics of the women and the results of the karyotype analysis were obtained from the database of our hospital and correlated with the obstetric outcomes.Results:Within a five-year period, there were 106 cases of fetal cystic hygroma. Of those, fetal cardiac malformations were detected in four and micrognathia in one fetus. Eighty-five women underwent fetal invasive procedures and karyotype abnormalities were detected in 52 of the cases. Fetal outcomes of 33 cases with normal karyotype and 21 cases in whom karyotyping analysis were not performed due to patient refusal were enrolled into the study. Obstetric outcomes of 21 women who refused karyotyping consisted of 13 livebirths, seven missed abortions, and one fetal death, whereas those of 33 women with normal karyotype were; 12 livebirths, 12 missed abortions, two hydrops fetalis, and five fetal deaths. Nineteen of 33 fetuses with a normal karyotype and eight of 21 fetuses in whom karyotyping was not performed were terminated.Conclusion:The presence of cystic hygroma carries a high risk for fetal karyotype abnormalities and cardiac malformations. The postnatal outcomes of the fetuses with cystic hygroma appeared to be correlated with the absence of structural malformations and karyotype abnormalities.

MULTIVARIATE ANALYSIS OF BILIARY FLOW-RELATED FACTORS AND POST-KASAI SURVIVAL IN BILIARY ATRESIA PATIENTS.

Biliary atresia represents the most common surgically treatable cause of cholestasis in newborns. If not corrected, secondary biliary cirrhosis invariably results. To evaluate, through multivariate analysis, the prognostic factors associated with the presence of biliary flow and survival with the native liver following Kasai portoenterostomy. The study analyzed data from 117 biliary atresia patients who underwent portoenterostomy and had suitable histological material for evaluation. A logistic regression model was used to assess the presence of biliary flow. Survival was investigated through Kaplan-Meier curves and Cox-adjusted models. One third of patients achieved biliary flow and the median age at surgery was 81 days. Age at surgery, albumin, postoperative complications, biliary atresia structural malformation (BASM), liver architecture, larger duct diameter at porta hepatis, and cirrhosis (Ishak score) were the initial variables for the multivariate analysis. Age at surgery >90 days was the only variable associated with the absence of biliary drainage. Survival analysis revealed that the absence of biliary flow (P<0.0001), age at surgery >90 days (P=0.035), and the presence of BASM (P<0.0001), alone, could predict death or need for liver transplantation. Multivariate analysis demonstrated that the absence of biliary flow (P<0.0001 hazard ratio [HR] 6.25, 95% confidence interval [CI] 3.19-12.22) and the presence of BASM (P=0.014 HR 2.16, 95% CI 1.17-3.99) were associated with lowest survival with the native liver. Age at surgery >90 days was associated with absence of biliary flow. The presence of biliary drainage and the absence of structural malformations are cornerstone features for higher survival rates with the native liver.

Nonimmune Hydrops Fetalis: Factors Which Predict Outcome.

To evaluate the cause of NIHF cases referred to a tertiary referral center and to analyze the outcome. A total of 130 cases of fetal hydrops registered during eight-year study period were reviewed. Antenatal ultrasound, blood investigations and postnatal fetal examination were done, and outcome was noted. Out of 130 cases of NIHF, antenatal ultrasound showed the presence of structural malformations in 94/130 (72.3%), cardiac abnormality was the most common (34/130, 26.1%) and cystic hygroma was seen in 15/130 (11.5%). Chromosomal abnormality was observed in 15(11.5%) cases, and Doppler US showed anemia in 4/130 (3.1%) cases only. Live born were 25 (12.9%), and rest all were stillborn or abortion. Later mean gestational age of presentation (p=0.0001), presence of gastrointestinal malformation (p=0.0001) and absence of structural malformations (p=0.0441) were factors significantly associated with live birth; the presence of cystic hygroma (p=0.0431) or structural heart defect (p=0.007) was significantly associated with poor outcome. Fetal anemia was not a common cause of NIHF in the study population. The early onset of hydrops and presence of structural malformation carry a graver prognosis; type of structural defect also has bearing on outcome.