Papers by Jader De Jesus Cruz
Prenatal Diagnosis, 2011
Objective To examine the distribution of fetal nuchal translucency (NT) thickness in dichorionic ... more Objective To examine the distribution of fetal nuchal translucency (NT) thickness in dichorionic twins and investigate the effect of the correlation between NT measurements in each twin pair on the performance of screening for trisomies. Methods The distribution of fetal NT for crown-rump length (CRL) was examined in 5646 dichorionic twin pregnancies, including 103 with fetal trisomies 21, 18 or 13. The correlation in fetal NT in each euploid twin pregnancy was estimated. Results The distribution of NT in both euploid and trisomic fetuses was consistent with the mixture model in singleton pregnancies. In the euploid pregnancies, there was a correlation in log NT measurements in each twin pair (r = 0.42, 95% CI: 0.39-0.45) and, after removal of the effect of the operator, this correlation was reduced to 0.34. Allowing for this correlation in risk assessment for trisomies had a major impact on the estimated patient-specific risk but had little effect on the overall performance of screening. Conclusions In dichorionic twin pregnancies, the mixture model of distributions of NT can be applied as in singletons. In screening for trisomies, the correlation in NT measurements between the fetuses should be taken into account in the estimation of patient-specific risks.
Objective: We aimed to identify the cut-off for risk of pre-eclampsia (PE) in Portuguese populati... more Objective: We aimed to identify the cut-off for risk of pre-eclampsia (PE) in Portuguese population by applying the first trimester prediction model from Fetal Medicine Foundation (FMF) in a prospective enrolled cohort of low risk pregnant women. Population and methods: A prospective cohort of low risk singleton pregnancies underwent routine first-trimester scree ning from 2011 through 2013. Maternal characteristics, blood pressure, uterine artery Doppler, levels of pregnancy-associa ted plasma protein-A (PAPP-A) and free b-human chorionic gonadotropin were evaluated. The prediction of PE in first trimester was calculated through software Astraia, the outcome obtained from medical records and the cutoff value was subse quently calculated. Results: Of the 273 enrolled patients, 7 (2.6%) developed PE. In first trimester women who developed PE presented hi gh er uterine arteries resistance, represented by higher values of lowest and mean uterine pulsatility index, p <0.005. There wa...
Perinatal Journal, 2022
This recommendation document follows the mission of the World Association of Perinatal Medicine (... more This recommendation document follows the mission of the World Association of Perinatal Medicine (WAPM) in collaboration with the Perinatal Medicine Foundation (PMF). We aim to bring together groups and individuals throughout the world for precise standardization to implement the ultrasound evaluation of the fetus in the first trimester of pregnancy and improve the early detection of anomalies and the clinical management of the pregnancy. The aim is to present a document that includes statements and recommendations on the standard evaluation of the fetal anatomy in the first trimester, based on quality evidence in the peer-reviewed literature as well as the experience of perinatal experts around the world.
Journal of Perinatal Medicine
This recommendation document follows the mission of the World Association of Perinatal Medicine i... more This recommendation document follows the mission of the World Association of Perinatal Medicine in collaboration with the Perinatal Medicine Foundation. We aim to bring together groups and individuals throughout the world for precise standardization to implement the ultrasound evaluation of the fetus in the first trimester of pregnancy and improve the early detection of anomalies and the clinical management of the pregnancy. The aim is to present a document that includes statements and recommendations on the standard evaluation of the fetal anatomy in the first trimester, based on quality evidence in the peer-reviewed literature as well as the experience of perinatal experts around the world.
Ultrasound in Obstetrics and Gynecology, 2010
Objective To determine the prevalence and outcome of fetuses with holoprosencephaly, exomphalos a... more Objective To determine the prevalence and outcome of fetuses with holoprosencephaly, exomphalos and megacystis diagnosed at 11-13 weeks of gestation. Methods As part of a prospective screening study for trisomy 21 in singleton pregnancies at 11 + 0 to 13 + 6 weeks' gestation, transabdominal ultrasound examination was performed to diagnose holoprosencephaly, exomphalos and megacystis. Fetal karyotype and pregnancy outcome in fetuses with these defects were examined.
Fetal Diagnosis and Therapy, 2011
This was a prospective study in singleton pregnancies undergoing first-trimester screening for an... more This was a prospective study in singleton pregnancies undergoing first-trimester screening for aneuploidies at King'
Desde que, em 1997, Dennis Lo descobriu a presença de cell-free DNA de origem fetal (cffDNA) na c... more Desde que, em 1997, Dennis Lo descobriu a presença de cell-free DNA de origem fetal (cffDNA) na circulação materna muito se tem investido no desenvolvimento de testes de rastreio pré-natal não invasivo, sobretudo, para a SÃndrome de Down (SD). Atualmente, encontram-se disponÃveis no mercado variadÃssimos testes que facultam este tipo de rastreio em cffDNA, com melhores performances de sensibilidade e especificidade, quando comparado ao rastreio pré-natal convencional. No entanto, e de acordo com a sua realidade, cada paÃs tem optado por diferentes estratégias.
Journal of ultrasonography, 2016
Instituto Nacional de Saúde Dr. Ricardo Jorge, INSA, IP, Lisboa, Portugal Centro de Diagnóstico P... more Instituto Nacional de Saúde Dr. Ricardo Jorge, INSA, IP, Lisboa, Portugal Centro de Diagnóstico Pré-Natal, Maternidade Dr. Alfredo da Costa, Centro Hospitalar Lisboa Central, CHLC, Lisboa, Portugal Serviço de Anatomia Patológica, Maternidade Dr. Alfredo da Costa, Centro Hospitalar Lisboa Central, CHLC, Lisboa, Portugal Serviço de Genética Médica, Hospital de D. Estefânia, Centro Hospitalar Lisboa Central, CHLC, Lisboa, Portugal *[email protected]
Ultrasound in Obstetrics Gynecology, Aug 1, 2010
Methods The concentrations of free β-hCG and PAPP-A were measured in samples collected from 10 pr... more Methods The concentrations of free β-hCG and PAPP-A were measured in samples collected from 10 pregnant women and stored as whole blood or serum for 1-8 days at 4, 20 or 40 • C. The concentrations measured were adjusted to take day-to-day variations into account and were expressed as a percentage of the values on day 0. In a second study involving 10 pregnant women, free β-hCG was measured at 10 min and at 2, 4, 8 and 12 h after collection and storage at 30 or 40 • C, either as separated serum or as whole blood.
Ultrasound in Obstetrics and Gynecology, 2010
K E Y W O R D S: ductus venosus flow; nasal bone; nuchal translucency; screening for trisomy 21; ... more K E Y W O R D S: ductus venosus flow; nasal bone; nuchal translucency; screening for trisomy 21; tricuspid regurgitation ABSTRACT Objectives This study was carried out to examine the performance of a contingent policy in first-trimester screening for trisomy 21, in which the estimated risk was first derived by a combination of maternal age, fetal nuchal translucency (NT) thickness, presence/absence of the nasal bone, blood flow in the ductus venosus or flow across the tricuspid valve, and biochemical testing was carried out only in those who were found to have an intermediate risk. We also examined the performance of a policy in which the estimated risk was first derived by a combination of maternal age and biochemical testing, and ultrasound examination was carried out only in those with an intermediate risk.
Ultrasound in Obstetrics and Gynecology, 2010
Methods The concentrations of free β-hCG and PAPP-A were measured in samples collected from 10 pr... more Methods The concentrations of free β-hCG and PAPP-A were measured in samples collected from 10 pregnant women and stored as whole blood or serum for 1-8 days at 4, 20 or 40 • C. The concentrations measured were adjusted to take day-to-day variations into account and were expressed as a percentage of the values on day 0. In a second study involving 10 pregnant women, free β-hCG was measured at 10 min and at 2, 4, 8 and 12 h after collection and storage at 30 or 40 • C, either as separated serum or as whole blood.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology, Jan 1, 2010
ObjectiveTo determine the prevalence and outcome of fetuses with holoprosencephaly, exomphalos an... more ObjectiveTo determine the prevalence and outcome of fetuses with holoprosencephaly, exomphalos and megacystis diagnosed at 11–13 weeks of gestation.To determine the prevalence and outcome of fetuses with holoprosencephaly, exomphalos and megacystis diagnosed at 11–13 weeks of gestation.MethodsAs part of a prospective screening study for trisomy 21 in singleton pregnancies at 11 + 0 to 13 + 6 weeks' gestation, transabdominal ultrasound examination was performed to diagnose holoprosencephaly, exomphalos and megacystis. Fetal karyotype and pregnancy outcome in fetuses with these defects were examined.As part of a prospective screening study for trisomy 21 in singleton pregnancies at 11 + 0 to 13 + 6 weeks' gestation, transabdominal ultrasound examination was performed to diagnose holoprosencephaly, exomphalos and megacystis. Fetal karyotype and pregnancy outcome in fetuses with these defects were examined.ResultsScreening was carried out in 57 119 pregnancies. The prevalence of holoprosencephaly, exomphalos and megacystis was 1 : 1298, 1 : 381 and 1 : 1632, respectively. Chromosomal abnormalities, mainly trisomies 18 and 13, were found in 65.9% of fetuses with holoprosencephaly, in 55.3% with exomphalos and in 31.4% with megacystis. There was spontaneous resolution of the defect by 20 weeks in 92.5% of euploid fetuses with exomphalos containing only bowel and in 90% of the euploid fetuses with megacystis and bladder length of ≤ 15 mm.Screening was carried out in 57 119 pregnancies. The prevalence of holoprosencephaly, exomphalos and megacystis was 1 : 1298, 1 : 381 and 1 : 1632, respectively. Chromosomal abnormalities, mainly trisomies 18 and 13, were found in 65.9% of fetuses with holoprosencephaly, in 55.3% with exomphalos and in 31.4% with megacystis. There was spontaneous resolution of the defect by 20 weeks in 92.5% of euploid fetuses with exomphalos containing only bowel and in 90% of the euploid fetuses with megacystis and bladder length of ≤ 15 mm.ConclusionsA high proportion of fetuses with holoprosencephaly, exomphalos and megacystis diagnosed at 11–13 weeks of gestation are aneuploid, but in the majority of cases exomphalos and megacystis represent temporary abnormalities that resolve spontaneously. Copyright © 2010 ISUOG. Published by John Wiley & Sons, Ltd.A high proportion of fetuses with holoprosencephaly, exomphalos and megacystis diagnosed at 11–13 weeks of gestation are aneuploid, but in the majority of cases exomphalos and megacystis represent temporary abnormalities that resolve spontaneously. Copyright © 2010 ISUOG. Published by John Wiley & Sons, Ltd.
Prenatal diagnosis, Jan 1, 2011
ObjectiveTo examine the distribution of fetal nuchal translucency (NT) thickness in dichorionic t... more ObjectiveTo examine the distribution of fetal nuchal translucency (NT) thickness in dichorionic twins and investigate the effect of the correlation between NT measurements in each twin pair on the performance of screening for trisomies.To examine the distribution of fetal nuchal translucency (NT) thickness in dichorionic twins and investigate the effect of the correlation between NT measurements in each twin pair on the performance of screening for trisomies.MethodsThe distribution of fetal NT for crown–rump length (CRL) was examined in 5646 dichorionic twin pregnancies, including 103 with fetal trisomies 21, 18 or 13. The correlation in fetal NT in each euploid twin pregnancy was estimated.The distribution of fetal NT for crown–rump length (CRL) was examined in 5646 dichorionic twin pregnancies, including 103 with fetal trisomies 21, 18 or 13. The correlation in fetal NT in each euploid twin pregnancy was estimated.ResultsThe distribution of NT in both euploid and trisomic fetuses was consistent with the mixture model in singleton pregnancies. In the euploid pregnancies, there was a correlation in log NT measurements in each twin pair (r = 0.42, 95% CI: 0.39–0.45) and, after removal of the effect of the operator, this correlation was reduced to 0.34. Allowing for this correlation in risk assessment for trisomies had a major impact on the estimated patient-specific risk but had little effect on the overall performance of screening.The distribution of NT in both euploid and trisomic fetuses was consistent with the mixture model in singleton pregnancies. In the euploid pregnancies, there was a correlation in log NT measurements in each twin pair (r = 0.42, 95% CI: 0.39–0.45) and, after removal of the effect of the operator, this correlation was reduced to 0.34. Allowing for this correlation in risk assessment for trisomies had a major impact on the estimated patient-specific risk but had little effect on the overall performance of screening.ConclusionsIn dichorionic twin pregnancies, the mixture model of distributions of NT can be applied as in singletons. In screening for trisomies, the correlation in NT measurements between the fetuses should be taken into account in the estimation of patient-specific risks. Copyright © 2011 John Wiley & Sons, Ltd.In dichorionic twin pregnancies, the mixture model of distributions of NT can be applied as in singletons. In screening for trisomies, the correlation in NT measurements between the fetuses should be taken into account in the estimation of patient-specific risks. Copyright © 2011 John Wiley & Sons, Ltd.
Prenatal Diagnosis, 2009
Objective To re-evaluate in a larger cohort of patients if the maternal serum biochemical markers... more Objective To re-evaluate in a larger cohort of patients if the maternal serum biochemical markers used in first trimester aneuploidy screening have the same marker distributions in pregnancies with a previous history of aneuploidy compared with those that have no previous history.
Hypertension in Pregnancy, 2011
In patients with preeclampsia maternal plasma concentration of plasminogen activator inhibitor-2 ... more In patients with preeclampsia maternal plasma concentration of plasminogen activator inhibitor-2 (PAI-2) is reduced. The objective of the study was to determine if the altered levels of PAI-2 precede the onset of the disease. Plasma PAI-2 was measured at 11-13 weeks of gestation in 119 pregnancies that developed preeclampsia, 85 that developed gestational hypertension and 204 controls. There were no significant differences in PAI-2 between the preeclampsia, gestational hypertension and controls (1.07 MoM, 1.08 MoM and 0.96 MoM). The decrease in plasma PAI-2 observed in preeclampsia does not precede the clinical onset of the disease.
Hypertension in Pregnancy, 2011
Human placental growth hormone (hPGH) is produced by human placenta and plays a central role in t... more Human placental growth hormone (hPGH) is produced by human placenta and plays a central role in the maternal metabolic adjustments to pregnancy. The objective of this study was to investigate the maternal serum concentration of hPGH at 11-13 weeks of gestation in pregnancies that subsequently developed preeclampsia (PE), and to examine the possible association with uterine artery pulsatility index (PI) and maternal serum pregnancy-associated plasma protein-A (PAPP-A). The maternal serum concentration of hPGH at 11-13 weeks was measured in a case-control study from 60 cases that developed PE and 120 unaffected controls. The measured hPGH concentration was converted into a multiple of the expected median (MoM) in unaffected pregnancies. Regression analysis was used to determine the significance of association between hPGH MoM with uterine artery PI MoM and PAPP-A MoM. In the pregnancies that subsequently developed PE the median serum hPGH concentration was not significantly different from that in the unaffected group (0.92 versus 1.00 MoM), whereas uterine artery PI was increased (1.31 versus 1.01 MoM) and serum PAPP-A was decreased (0.76 versus 1.01 MoM). In the group that developed PE there was no significant association between serum hPGH MoM and gestational age at delivery, uterine artery PI MoM, or serum PAPP-A MoM. The finding that in the PE group serum hPGH level during the first trimester is normal suggests that it is unlikely that this hormone plays a role in the pathogenesis of PE.
Human Reproduction, 2011
background: Pregnancies conceived by IVF are at increased risk of pre-eclampsia (PE). This study ... more background: Pregnancies conceived by IVF are at increased risk of pre-eclampsia (PE). This study examines the potential mechanism for such association by examining the effect of method of conception on placentation as assessed by uterine artery Doppler at 11-13 weeks' gestation.
Introduction: To examine the prevalence and outcome of absent ductus venosus (DV) diagnosed at 11... more Introduction: To examine the prevalence and outcome of absent ductus venosus (DV) diagnosed at 11-13 weeks' gestation. Method: Prospective screening study for aneuploidies in 65,840 singleton pregnancies, including measurement of nuchal translucency (NT) thickness and examination of the DV. Prenatal findings and outcome of fetuses with absent DV were examined. Results: Absent DV was diagnosed in 26 cases giving a prevalence of 1 in 2,532. In 15 (57.7%) cases the NT was above the 95th centile for crown-rump length. In 11 (42.3%) cases, there was an aneuploidy, mainly Turner syndrome. The incidence of aneuploidies was 66.7% (10 of 15) for those with NT above the 95th centile and 9.1% (1 of 11) in those with normal NT (p = 0.015). In addition to the aneuploidies, there were 3 cases with other abnormalities, including one case each of Ebstein anomaly, Noonan syndrome and Pierre Robin sequence. In 9 of the 11 (81.8%) fetuses with NT below the 95th centile, absent DV was an isolated finding and the pregnancies resulted in healthy live births. Conclusion: The prognosis of fetuses with absent DV depends on the measurement of NT thickness, being poor if the NT is increased and good if the NT is normal.
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Papers by Jader De Jesus Cruz