Catalina Valencia

Severe diaphragmatic hernia treated by fetal endoscopic tracheal occlusion

To examine operative and perinatal aspects of fetal endoscopic tracheal occlusion (FETO) in congenital diaphragmatic hernia (CDH).

First‐trimester maternal serum pregnancy‐associated plasma protein‐A and pre‐eclampsia

To examine the relationship between low maternal serum pregnancy‐associated plasma protein‐A (PAPP‐A) and uterine artery pulsatility index (UtA‐PI) at 11 + 0 to 13 + 6 weeks with subsequent development of pre‐eclampsia (PE).

Screening for trisomies 21, 18 and 13 by maternal age, fetal nuchal translucency, fetal heart rate, free β-hCG and pregnancy-associated plasma protein-A

BACKGROUND A beneficial consequence of screening for trisomy 21 is the early diagnosis of trisomies 18 and 13. Our objective was to examine the performance of first-trimester screening for trisomies 21, 18 and 13 by maternal age, fetal nuchal translucency (NT) thickness, fetal heart rate (FHR) and maternal serum-free beta-hCG and pregnancy-associated plasma protein-A (PAPP-A). METHODS Prospective screening for trisomy 21 by maternal age, fetal NT, free beta-hCG and PAPP-A at 11(+0)-13(+6) weeks in singleton pregnancies, including 56 376 normal cases, 395 with trisomy 21, 122 with trisomy 18 and 61 with trisomy 13. Risk algorithms were developed for the calculation of patient-specific risks for each of the three trisomies based on maternal age, NT, FHR, free beta-hCG and PAPP-A. Detection (DR) and false positive rates (FPR) were calculated and adjusted according to the maternal age distribution of pregnancies in England and Wales in 2000-2002. RESULTS The DR and FPR were 90% and 3%, respectively, for trisomy 21, 91% and 0.2% for trisomy 18 and 87% and 0.2% for trisomy 13. When screen positivity was defined by an FPR of 3% on the risk for trisomy 21 in conjunction with an FPR of 0.2% on the maximum of the risks for trisomies 13 and 18, the overall FPR was 3.1% and the DRs of trisomies 21, 18 and 13 were 91%, 97% and 94%, respectively. CONCLUSIONS As a side effect of first-trimester screening for trisomy 21, approximately 95% of trisomy 13 and 18 fetuses can be detected with an 0.1% increase in the FPR.

Ductus venosus Doppler in screening for trisomies 21, 18 and 13 and Turner syndrome at 11-13 weeks of gestation.

To investigate the performance of first‐trimester screening for aneuploidies by including assessment of ductus venosus flow in the combined test of maternal age, fetal nuchal translucency thickness, fetal heart rate, and serum free β‐human chorionic gonadotropin and pregnancy‐associated plasma protein‐A.

Tricuspid regurgitation in screening for trisomies 21, 18 and 13 and Turner syndrome at 11+0 to 13+6 weeks of gestation

To investigate the performance of first‐trimester screening for aneuploidies by including assessment of tricuspid blood flow in the combined test of maternal age, fetal nuchal translucency (NT) thickness, fetal heart rate (FHR) and serum free β‐human chorionic gonadotropin (β‐hCG) and pregnancy‐associated plasma protein A (PAPP‐A).

Mean arterial pressure at 11(+0) to 13(+6) weeks in the prediction of preeclampsia

This study aimed to determine the performance of screening for preeclampsia (PE) by maternal medical history and mean arterial pressure (MAP) at 11+0 to 13+6 weeks. In 5590 women with singleton pregnancies attending for routine care at 11+0 to 13+6 week’s gestation we recorded maternal variables and measured the MAP. We excluded 397 because they had missing outcome data or the pregnancies resulted in miscarriage or termination. In 104 patients there was subsequent development of PE, 97 developed gestational hypertension, 574 delivered small-for-gestational-age newborns, and 4418 were unaffected by PE, gestational hypertension, or small for gestational age. A multivariate Gaussian model was fitted to the distribution of log multiple of the median MAP in the PE and unaffected groups. Likelihood ratios for log multiple of the median MAP were computed and used together with maternal variables to produce patient-specific risks for each case. Detection rates and false-positive rates were calculated by taking the proportions with risks above a given risk threshold. In the unaffected group, log MAP was influenced by maternal age, ethnic origin, smoking, family and personal history of PE, and fetal crown-rump length. In the prediction of PE, significant contributions were provided by log multiple of the median MAP, ethnic origin, body mass index, and personal history of PE. The detection rate of PE by log multiple of the median MAP and maternal variables was 62.5% for a false-positive rate of 10%. Maternal variables, together with MAP, at 11+0 to 13+6 weeks identify a group at high risk for development of PE.

The outcome of twin reversed arterial perfusion sequence diagnosed in the first trimester

OBJECTIVE The aim of this study was to document the mortality of twin reversed arterial perfusion (TRAP) sequence from the first trimester to planned intervention at 16-18 weeks. STUDY DESIGN A retrospective review was performed of the outcome of monochorionic twin pregnancies diagnosed with twin reversed arterial perfusion sequence in the first trimester. RESULTS Twenty-six pregnancies were diagnosed with twin reversed arterial perfusion sequence in the first trimester: 2 opted for termination of pregnancy and 24 opted for prophylactic intervention to arrest the reversed flow, which was planned at 16-18 weeks. In 8 of 24 (33%) pregnancies, spontaneous death of the pump twin occurred between diagnosis and planned intervention. In 5 of 24 (21%), there was a spontaneous arrest of flow; whereas, in 11 (46%) there was persistent flow toward the acardiac twin at 16-18 weeks. CONCLUSION Twin reversed arterial perfusion carries a high mortality between the first and early second trimester.

Hypertensive disorders in pregnancy: screening by systolic diastolic and mean arterial pressure at 11-13 weeks.

Objectives. To examine the performance of screening for hypertensive disorders in pregnancy and to compare systolic blood pressure (BP), diastolic BP, and mean arterial pressure (MAP) measured by validated automated devices in a large population of pregnant women at 11–13 weeks. Methods. We recorded maternal variables and measured BP by automated devices in 9149 women with singleton pregnancies. The performance of screening for preeclampsia (PE) and gestational hypertension (GH) by combinations of disease-specific maternal factor-derived a priori risk with systolic BP, diastolic BP, and MAP was determined. Results. There were 8061 cases that were unaffected by PE or GH, 37 that developed PE requiring delivery before 34 weeks (early-PE), 128 with late-PE, and 140 with GH. The systolic BP, diastolic BP, and MAP were significantly higher in early-PE, late-PE, and GH than in the controls (p < 0.0001). The systolic BP was significantly higher in early-PE than in late-PE (p = 0.008) and both systolic BP and MAP were significantly higher in early-PE than in GH (p < 0.01). The best performance in screening was provided by MAP. The detection rate of early-PE at a 10% false-positive rate increased from 47% in screening by maternal factor-derived a priori risk alone to 76% in screening by its combination with MAP. The respective detection rates for late-PE increased from 41 to 52% and for GH increased from 31 to 48%. Conclusion. The measurement of BP can be combined with the maternal factor-derived a priori risk to provide effective first-trimester screening for PE and GH.

Screening for adverse pregnancy outcome by ductus venosus Doppler at 11-13(+6) weeks of gestation

OBJECTIVE: To estimate the independent contribution of abnormal flow in the ductus venosus at 11 to 13+6 weeks of gestation in the prediction of major fetal abnormalities and fetal death. METHODS: This was a prospective assessment of singleton pregnancies by maternal history, serum free β-hCG, pregnancy-associated plasma protein A (PAPP-A), fetal nuchal translucency thickness, and ductus venosus Doppler. The patients were subdivided into five groups: normal outcome (n=10,120), miscarriage or fetal death (n=185), abnormal karyotype (n=95), and major cardiac (n=20) or noncardiac defect (n=70). Regression analysis was performed to determine the significance of the contribution to adverse outcome of reversed a-wave in the ductus venosus, maternal characteristics, fetal delta nuchal translucency, maternal serum log PAPP-A multiples of the median, and log free β-hCG multiples of the median. RESULTS: The prevalence of reversed a-wave was significantly higher in the groups with miscarriage or fetal death (10.8%), abnormal karyotype (62.1%), and fetal cardiac defect (25.0%) than in the normal outcome group (3.7%), but not noncardiac defect (4.3%). An adverse outcome was observed in 2.7% of the fetuses with nuchal translucency at or below the 95th centile (in 2.6% of those with normal a-wave and in 7.0% of those with reversed a-wave) and in 19.3% of the fetuses with nuchal translucency above the 95th centile (in 8.9% of those with normal a-wave and in 70.9% of those with reversed a-wave). CONCLUSION: Reversed a-wave is associated with increased risk for chromosomal abnormalities, cardiac defects, and fetal death. However, in about 80% of cases with reversed a-wave, the pregnancy outcome is normal. LEVEL OF EVIDENCE II

Predictors of neonatal morbidity in fetuses with severe isolated congenital diaphragmatic hernia undergoing fetoscopic tracheal occlusion

To investigate neonatal morbidity in fetuses with severe congenital diaphragmatic hernia (CDH) treated with fetoscopic endoluminal tracheal occlusion (FETO) and compare it with historical controls with less severe forms of CDH that were managed expectantly.