Re: Umbilical cord diameter at 11-14 weeks of gestation: relationship to nuchal translucency, ductus venous blood flow and chromosomal defects.
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Chromosome Aberrations↗
Biomedical subjects
Alexandra Matias
Publications and source records attributed to Alexandra Matias.
Evolving indications for the EXIT procedure: the usefulness of combining ultrasound and fetal MRI.
The EXIT procedure (EX utero Intrapartum Treatment) encompasses a multidisciplinary approach to situations in which airway obstruction is anticipated. Uteroplacental circulation is maintained to avoid neonatal hypoxemia while intubation is attempted. Not only is it useful in congenital diaphragmatic hernia with intrauterine tracheal occlusion, but new indications have been proposed. We present two cases in which EXIT procedure was adopted (huge cervical mass with tracheal compression and a highly vascularized cephalocervical mass) for the same purpose on different grounds. Our two cases stress once more the importance of combining fetal ultrasound and magnetic resonance imaging in the characterization of cervical masses and its usefulness in programming the procedure with a multidisciplinary team.
Adult↗
The effect of ICSI, maternal age, and embryonic stage on early clinical loss rate of twin versus singleton pregnancies.
OBJECTIVES: To compare early loss rates between twin and singleton pregnancies following ART. STUDY DESIGN: First-trimester sonography counted the number of embryos with positive heartbeat in women undergoing IVF/ICSI and transfer of one to three embryos. The number of lost pregnancies was calculated from a second-trimester sonogram. Loss rates of the entire pregnancy were related to maternal age <38 or > or = 38 years, IVF or ICSI, and cleavage or blastocyst stage embryo transfers (in ICSI cases). RESULTS: Patients underwent IVF with (n = 672) and without (n = 189) ICSI. The overall odds of miscarrying the entire singleton pregnancy were 2.6 times that of a twin gestation (95% CI 1.5, 4.5). The disadvantage for singletons compared to twins seems more apparent in pregnancy after ICSI in the subgroup of patients <38 years (OR 2.9, 95% CI 1.5, 5.8). In this subgroup, the disadvantage conferred to singletons appeared only among days 2-3 embryo transfers (OR 3.0, 95% CI 1.3, 7.2). CONCLUSION: A significantly lower early spontaneous loss rate of twin pregnancies seems related to ICSI followed by cleavage stage embryo transfer in patients <38 years.
Adult↗
Critical evaluation of elective termination of pregnancy in a tertiary fetal medicine center during 43 months: correlation of prenatal diagnosis findings and postmortem examination.
OBJECTIVES: The aim of this study is the critical evaluation of cases of elective termination of pregnancy (TOP) in the Prenatal Diagnosis Center of S. João Hospital. MATERIAL AND METHODS: We performed a retrospective study of cases of elective TOP over a 43-month period in a tertiary referral hospital. The fetal indications for termination were analyzed. A comparative study of the prenatal diagnosis, established by ultrasound, and the results of postmortem findings, was performed. These were classified as having complete agreement, complete disagreement and major agreement with additional information. RESULTS: In total, during this period, 76 elective terminations of pregnancy were performed due to fetal causes. The number of fetal identified grounds was 25 cases of chromosomal abnormalities, 36 cases of morphological anomalies and 15 cases of other fetal situations. The comparison between ultrasound and fetopathologic findings showed complete agreement of diagnosis in 61.1% of cases, and no case of absolute discordance was identified. Major concordance with additional information was found in 38.9% of cases, with an increased risk of recurrence in six cases, and a decreased estimated risk of recurrence in three cases. DISCUSSION: This study reinforces the importance of the systematic evaluation of all cases of elective TOP by autopsy performed by a specialist fetal pathologist. This is the most reliable way of assessing the adequacy of prenatal diagnosis and implementing quality control. More than corroborating or correcting the prenatal diagnosis, systematic autopsy may establish a definite diagnosis, adjust prognosis and may be helpful in counseling the parents for a future pregnancy.
Abortion, Eugenic↗
Down syndrome screening in multiple pregnancies.
First or second trimester screening in twin pregnancies is feasible and still efficacious by using either a combination of ultrasound and maternal serum biochemistry in the first trimester or maternal serum biochemistry in the second trimester. Special care, however, should be emphasized in what concerns biochemical screening, since it is much less sensitive in multiples. These "pseudo-risks" have been challenged for their scientific and clinical validity, however. Until more data are available from larger studies on the distribution of markers in concordant or discordant twins, nuchal translucency estimated for each fetus should be the predominant factor by which women who present with increased risk should be counseled regarding invasive testing. In dizygotic pregnancies, pregnancy-specific risk should be calculated by summing the individual risk estimates for each fetus. In monozygotic twins, the risk should be calculated based on the geometric mean of both nuchal translucency measurements, not forgetting that the false-positive rate of nuchal translucency screening is expectantly higher than in singletons.
Biomarkers↗
Search for hemodynamic compromise at 11-14 weeks in monochorionic twin pregnancy: is abnormal flow in the ductus venosus predictive of twin-twin transfusion syndrome?
BACKGROUND AND OBJECTIVES: Twin-twin transfusion syndrome is a devastating complication of monochorionic twin pregnancies. The presence of increased nuchal translucency thickness (NT) in one of the monochorionic twins has been associated with an increased risk of developing this syndrome. One of the most plausible mechanisms for increased nuchal translucency is heart failure, indirectly manifested by abnormal blood flow in the ductus venosus. We aimed to clarify the pathophysiology of increased NT found more frequently in monochorionic twins prone to develop twin-twin transfusion syndrome. DESIGN: We present 50 cases of monochorionic twin pregnancies in which nuchal translucency thickness was measured and ductus venosus blood flow evaluation was performed at 11-14 weeks of gestation. RESULTS: Whenever the fetuses of a twin pregnancy were found to have discrepant nuchal translucency thickness measurements and abnormal flow in the ductus venosus was found in the fetus with increased nuchal translucency thickness, twin-twin transfusion syndrome eventually developed. Progression to twin-to-twin transfusion syndrome was not observed in the twins displaying no intertwin difference in nuchal translucency thickness measurements and it was not observed in those with discrepant nuchal translucency thickness but normal flow in the ductus venosus of both fetuses. In the two cases which developed twin-to-twin transfusion syndrome, fetoscopic laser coagulation of the vascular anastomoses was successfully carried out at 18 weeks and normalization of the venous return was recorded. CONCLUSIONS: Both increased nuchal translucency and abnormal flow in the ductus venosus in monochorionic twins may be early manifestations of haemodynamic imbalance between donor and recipient. The combined evaluation of both parameters in monochorionic twin pregnancies may constitute an effective method for identifying those at risk of developing twin-to-twin transfusion syndrome.
Adolescent↗
Pre-natal diagnosis of Ebstein abnomaly--case report.
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Ebstein Anomaly↗
How important is a cardiac echogenic focus in a routine fetal examination?
UNLABELLED: Intracardiac echogenic foci are very frequent findings during routine fetal ultrasound examination and sometimes a reason for referral of patients for fetal echocardiography. OBJECTIVE: To assess the incidence of echogenic intracardiac foci in a mixed population of fetuses at high and low risk for congenital heart defects, and to determine whether the association between echogenic foci and congenital heart disease is stronger than in the general fetal population. DESIGN: Retrospective evaluation of clinical files at two fetal cardiology referral centers, during the last two years. All cases that had at least one echogenic focus were selected for our study. Maternal age, gestational age, reason for referral, location and number of echogenic foci, chromosomal abnormalities and cardiac defects were analyzed. As previous studies suggest increased risk of trisomy associated with echogenic foci and considering that congenital heart defects are more frequent in fetuses with trisomy 21, we excluded all fetuses with aneuploidy from our study. RESULTS: Thus, 753 clinical files were reviewed, of which 61 (8.1%) had a fetus with at least one echogenic focus. Mean maternal age was 29.0 years (minimum--19 years, maximum--43 years). Mean gestational age at the time of the examination was 23.4 weeks (minimum--19 weeks, maximum--31 weeks). In 48.0% the reason for referral for fetal echocardiography was the existence of echogenic foci previously seen during a routine maternal examination. Increased nuchal translucency in 13.0% of pregnant women, maternal age in 10.0%, family history of congenital heart defects in 8.4%, suspicion of cardiac malformation in the obstetric scan in 4.2%, twinning in 4.0%, history of miscarriage in 2.1% and maternal pathology in 10.3% were other referral reasons. In 53 cases a single echogenic focus was found, 44 of them inside the left ventricle and 9 in the right ventricle. Multiple echogenic foci were found in the different heart chambers in the eight remaining cases. Fifty-six fetuses had a structurally normal heart and in five (8.1%) a cardiac defect was found. CONCLUSION: Echogenic foci are commonly seen inside heart chambers during routine fetal heart scanning, the left ventricle being the most frequent location. Although they probably represent a normal variant of papillary muscle development their presence should be interpreted as a possible risk for congenital heart defects.
Adult↗
Nuchal translucency and ductus venosus blood flow as early sonographic markers of thanatophoric dysplasia. A case report.
Thanatophoric dysplasia (TD) is the most frequent form of lethal osteochondrodysplasias. Prenatal diagnosis is commonly accomplished in the second-trimester scan, but occasionally TD may not be clearly distinguished from the other osteochondrodysplasias, with consequent important prognostic implications. However, in order to confirm the diagnosis, complementary radiological, pathological and molecular studies are mandatory. We present a case of TD diagnosed in the late first trimester with the contribution of nuchal translucency combined with ductus venosus blood flow assessment.
Abortion, Induced↗
[Calculation of gestational age. Methods and problems].
Gestational age assignment is one of the most important issues in perinatal medicine. Nowadays, the first day of the last menstrual period, when available, is still used as the basis for calculation of gestational age and expected day of confinement. However, most frequently this date is uncertain or even unknown, and thereby gestational age can be confidently estimated by ultrasonographic biometry until 22 weeks of gestation. There is no uniform dating policy when both a valid last menstrual period and ultrasonographic dates are available in determining the date of confinement. When both methods are compared, there are obvious advantages of routine scanning in the first half of pregnancy.
Female↗