Systematic review and meta-analysis of the performance of second-trimester screening for prenatal detection of congenital heart defects.

BACKGROUND: The prenatal detection rate of congenital heart defects (CHDs) is increasing, but reported rates vary. OBJECTIVES: To determine the performance of the second-trimester anomaly scan to detect CHD. SEARCH STRATEGY: PubMed and Embase were searched for relevant studies in any language from inception to February 3, 2017. The search terms included "prenatal diagnosis" or "pregnancy," "cardiovascular diseases" or "cardiac defects," "congenital," and "specificity," or "sensitivity," or "cohort study." SELECTION CRITERIA: Cohort studies assessing the detection rate of CHD during population-based prenatal screening from 1995 were eligible for inclusion. DATA COLLECTION AND ANALYSIS: Data were collected from identified studies; authors were approached for additional data when necessary. A review and meta-analysis were performed. When possible, separate analyses were undertaken for isolated CHD cases. MAIN RESULTS: Meta-analysis of seven studies showed the pooled detection rate of CHD in unselected populations as 45.1% (95% confidence interval 33.5%-57.0%). However, the rate of detection of univentricular defects and heterotaxy was above 85%. Similar rates were found among cases of isolated CHD. CONCLUSIONS: Prenatal detection showed a strong correlation with CHD severity. The detection of conotruncal anomalies needs to improve. A thoroughly organized screening program will be essential to achieve a higher detection rate.

Pregnancy complications in singleton pregnancies with isolated fetal heart defects.

INTRODUCTION: As the prenatal detection rates of congenital heart defects (CHDs) increase, obstetricians are more frequently faced with pregnancies complicated by a fetal CHD. Congenital anomalies in general are associated with preterm birth and fetal demise. The aim of this study was to gain insight into the prevalence of preterm birth and fetal demise in singleton pregnancies with fetuses with isolated CHDs. MATERIAL AND METHODS: A geographical cohort study was performed in a large region in the Netherlands. Fetuses and infants from singleton pregnancies diagnosed with severe isolated CHD, born between 1 January 2002 and 1 January 2012, were included. All cases in the CHD cohort were assessed for preterm birth or fetal demise. The proportions of preterm birth and fetal demise were compared with those in a control group and odds ratios were calculated. RESULTS: The proportion of preterm births in the CHD cohort (n = 1013) was 9.1% (95% CI 7.3-10.9) compared with 5.6% (95% CI 5.4-5.8) in the control group, with an odds ratio of 1.7 (95% CI 1.4-2.1). The preterm birth started spontaneously in 49.5% and 38.4% were induced. In 15 cases fetal demise occurred (1.5%; 95% CI 0.8-2.2), compared with 0.7% (95% CI 0.6-0.8) in the control group, odds ratio 2.0 (95% CI 1.2-3.4). CONCLUSIONS: Higher rates of preterm birth and fetal demise occur in fetuses with isolated CHD compared with the general population. Prenatal specialists should be vigilant for signs of heart failure, premature closure of the foramen ovale or fetal distress in fetuses with isolated CHDs.

Chromosomal abnormalities and copy number variations in fetal left-sided congenital heart defects.

OBJECTIVES: To demonstrate the spectrum of copy number variants (CNVs) in fetuses with isolated left-sided congenital heart defects (CHDs), and analyse genetic content. METHODS: Between 2003 and 2012, 200 fetuses were identified with left-sided CHD. Exclusion criteria were chromosomal rearrangements, 22q11.2 microdeletion and/or extra-cardiac malformations (n = 64). We included cases with additional minor anomalies (n = 39), such as single umbilical artery. In 54 of 136 eligible cases, stored material was available for array analysis. CNVs were categorized as either (likely) benign, (likely) pathogenic or of unknown significance. RESULTS: In 18 of the 54 isolated left-sided CHDs we found 28 rare CNVs (prevalence 33%, average 1.6 CNV per person, size 10.6 kb-2.2 Mb). Our interpretation yielded clinically significant CNVs in two of 54 cases (4%) and variants of unknown significance in three other cases (6%). CONCLUSIONS: In left-sided CHDs that appear isolated, with normal chromosome analysis and 22q11.2 FISH analysis, array analysis detects clinically significant CNVs. When counselling parents of a fetus with a left-sided CHD it must be taken into consideration that aside from the cardiac characteristics, the presence of extra-cardiac malformations and chromosomal abnormalities influence the treatment plan and prognosis.

Single-dose compared with multiple day antibiotic prophylaxis for cesarean section in low-resource settings, a randomized controlled, noninferiority trial.

OBJECTIVE: To investigate the efficacy of a single prophylactic dose of ampicillin combined with metronidazole to prevent postcesarean section infections compared with a multiple day regimen in low-resource settings. DESIGN: An evaluator-blinded randomized, controlled, noninferiority trial. SETTING: Two rural hospitals in Tanzania. POPULATION: Of 181 enrolled eligible women with an indication for cesarean section, information on 176 was analyzed by intention-to-treat. METHODS: The women were randomly assigned to either the intervention group who received a single dose of ampicillin and metronidazole, or to the control group who received a multiple-day regimen of ampicillin/amoxicillin and metronidazole. MAIN OUTCOME MEASURES: The primary outcome was maternal postcesarean infection. Secondary outcomes were severity of these infections, other maternal complications, and the duration of hospital stay. RESULTS: In the intervention group (n = 89), six women (6.7%) developed a wound infection compared with nine (10.3%) in the control group (n = 87) (difference 3.60; 95% CI -4.65 to 11.85) (p = 0.40). CONCLUSIONS: A single dose of prophylactic ampicillin and metronidazole is equally effective as a multiple-day regimen in preventing postcesarean wound infections in low-resource settings, therefore it can be considered as a good strategy in low-resource settings. The reduced quantity of prophylactic antibiotics will reduce costs without increasing the risk of maternal infection.