Trimester Diagnosis Research Articles

Sirenomelia: a review on embryogenic enviromental theories, novel three-dimensional ultrasound imaging and first trimester diagnosis in a case of mosaic 69,XXX/46,XX fetus

Sirenomelia is caused by atrophy of the lower extremities that is commonly associated with gastrointestinal and urogenital malformations. Embryogenic environmental theories and systematic review of the literature are reported. Genetic basis of the condition has been demonstrated in the animal model. In humans, association with de novo balanced translocation has only recently been documented. A case of triploidy mosaic fetus with sirenomelia and posterior fossa anomaly diagnosed at first trimester using novel three-dimensional ultrasound imaging techniques is presented.

İlk Trimesterde Tanısı Konulan Cantrell Pentalojisi: Nöral Tüp Defektinin Eşlik Ettiği Nadir Bir Olgu

İlk Trimesterde Tanısı Konulan Cantrell Pentalojisi: Nöral Tüp Defektinin Eşlik Ettiği Nadir Bir Olgu

First Trimester Typhoid Fever with Vertical Transmission ofSalmonellaTyphi, an Intracellular Organism

We report a case in which placental abruption occurred at 16 weeks following first trimester diagnosis and treatment for typhoid fever. Unexpectedly Salmonella enterica serovar Typhi (S. Typhi) was found in fetal tissues at autopsy. Using information from the murine model of typhoid fever in pregnancy, we draw parallels between S. Typhi and L. monocytogenes to develop a plausible hypothesis to explain how this organism was able to cross the placenta in the first trimester to cause abruption, inflammation, and expulsion of the fetus and placenta. We hope that this model for understanding placental infections by the hematogenous route helps to raise awareness that organisms not typically associated with TORCH infection can nevertheless cause placental infection and pregnancy loss.

Combination of intracranial translucency and 3D sonography in the first trimester diagnosis of neural tube defects: case report and review of literature

Neural tube defects are congenital defects of the central nervous system caused by lack of neural tube closure. First trimester screening for aneuploidy has become widespread in the recent years. Fetal intracranial translucency (IT) can be easily observed in normal fetuses in the mid-sagittal plane. The absence of IT should be an important factor taken into consideration in the early diagnosis of open spinal defects. 3D ultrasonography is especially useful in cases of spinal anomalies where the visualization of the fetal structure is insufficient due to fetal position. We present a combination of intracranial translucency and 3D sonography used in the first trimester diagnosis of a neural tube defect case.

First Trimester Diagnosis of Holoprosencephaly Secondary to a Ring Chromosome 7

Holoprosencephaly (HPE) is a developmental defect in humans in which the forebrain fails to completely separate into two hemispheres. We describe a 12 3/7-week-old fetus found on ultrasound evaluation to have features consistent with HPE, including a single anterior ventricle, fused thalami, and a flattened profile. Cytogenetic analysis of chorionic villi revealed a ring chromosome 7 [r(7)]. This uncommon finding has been associated with growth delay, microcephaly, and dermatologic abnormalities. However, both the clinical features and the extent of cytogenetic imbalance of chromosome 7 are variable, and few reported cases of r(7) have been molecularly studied. To our knowledge, this is the first report of a prenatally identified r(7), molecularly characterized using array comparative genomic hybridization.

Meckel Gruber Syndrome: Second trimester diagnosis of a recurrent case in a non-consanguineous marriage

Meckel-Gruber Syndrome (MKS) is a rare, autosomal recessive genetic disorder, incompatible with life. It is characterized by enlarged polycystic kidneys and post axial polydactyly. Foetal or neonatal death is caused by pulmonary hypoplasia. We report a case of a 35 year old woman who presented at 7 weeks of gestation of her sixth pregnancy. A transabdominal anomaly ultrasound performed for her current pregnancy at 18 weeks of gestation showed features consistent with MKS. The termination of pregnancy was declined and a live newborn female was delivered via an emergency caeserean section at 34 weeks of gestation due to previous history of lower segment caesarean section (LSCS) & leaking. Physical examination of the neonate confirmed the features of MKS. The neonate died within 4-5 hours of birth. This case represented a second trimester diagnosis of a recurrent case of MKS in a non-consanguineous marriage.

P03.12: First trimester diagnosis of a 48,XXYY syndrome

P03.12: First trimester diagnosis of a 48,XXYY syndrome

P03.11: Ultrasonographic features of trisomy 13

as being normal (n = 22) or abnormal (n = 26) and whether the diagnosis was made correctly. Results: For the discernment between normal and abnormal the sensitivity is higher for VE (86.2% vs. 81.5% P = 0.24) and the specificity is higher for 2D/3D US (83.6% vs. 73.6% P = 0.05). VE has a higher sensitivity (63.3% vs. 53.1% P = 0.07) when analyzing the correctness of a diagnosis, whereas specificity is comparable. Malformations of the face, skeleton and extremities are more often correctly diagnosed with VE. The reviewers preferred VE above 2D/3D US. More time was required for evaluation with VE as compared to 2D/3D. Conclusions: The detection rate for first trimester abnormalities is higher for VE and more diagnostic information became available with VE. VE has additional value in first trimester diagnosis of malformations of the face and limbs/skeleton.

P26.16: First trimester diagnosis of Pentalogy of Cantrell and hypercoiling of the umbilical cord

P26.16: First trimester diagnosis of Pentalogy of Cantrell and hypercoiling of the umbilical cord

Einfluss der nicht invasiven Ersttrimester-Diagnostik auf Indikationen und Ergebnisse der Chorionzottenbiopsien

In this explorative study it should be evaluated how the introduction of non invasive first trimester diagnosis (nuchal translucency measurement, Combined Test, first trimester ultrasound screening) has influenced the indications and cytogenetic results of chorion villi samplings. Between 1989 and 2008 3337 pregnancies with CVS between 11 and 14 weeks of gestation were examined retrospectively. They were divided in two groups: CVS 1989-2001 before introduction of non invasive first trimester diagnosis (n=1698) and CVS 2002-2008 after introducing non invasive testing at the end of 2001 (n=1639). In both groups the indications for CVS (maternal age, sonographic findings, past history, maternal anxiety, and abnormal results of the Combined Test only in the second group) and the cytogenetic results were evaluated. In the first group (1989-2001, n=1698) 85,6% (n=1454) of all CVS were performed because of maternal age and only 3% (n=51) due to sonographic findings. In the second group (2002-2008, n=1639) there was a distinct increase of sonographic findings leading to CVS (33,9%, n=555) with a clear decrease of maternal age to 37,9% (n=621). Abnormal cytogenetic results were found in 10,5% (n=172) in the second group, in the first group only in 4,5% (n=76), respectively. The parameter with the highest rate of chromosomal disorders was fetal hydrops (66,1%), follwed by hygroma colli (48,2%), malformations (12,9%) and increased nuchal translucency (11,2%). Regarding maternal age alone the rate of abnormal chromosomes was 3,1%. It could be shown that non invasive first trimester diagnosis has lead to a more specific indication for invasive fetal testing (sonographic findings 33,9 vs. 3%, maternal age 37,9 vs. 85,6%) with a higher rate of chromosomal disorder in this group (10,5 vs. 4,5%).

Cervical Screening within HIV Care: Findings from an HIV-Positive Cohort in Ukraine

IntroductionHIV-positive women have an increased risk of invasive cervical cancer but cytologic screening is effective in reducing incidence. Little is known about cervical screening coverage or the prevalence of abnormal cytology among HIV-positive women in Ukraine, which has the most severe HIV epidemic in Europe.MethodsPoisson regression models were fitted to data from 1120 women enrolled at three sites of the Ukraine Cohort Study of HIV-infected Childbearing Women to investigate factors associated with receiving cervical screening as part of HIV care. All women had been diagnosed as HIV-positive before or during their most recent pregnancy. Prevalence of cervical abnormalities (high/low grade squamous intraepithelial lesions) among women who had been screened was estimated, and associated factors explored.ResultsOverall, 30% (337/1120) of women had received a cervical screening test as part of HIV care at study enrolment (median 10 months postpartum), a third (115/334) of whom had been tested >12 months previously. In adjusted analyses, women diagnosed as HIV-positive during (vs before) their most recent pregnancy were significantly less likely to have a screening test reported, on adjusting for other potential risk factors (adjusted prevalence ratio (APR) 0.62, 95% CI 0.51–0.75 p<0.01 for 1st/2nd trimester diagnosis and APR 0.42, 95% CI 0.28–0.63 p<0.01 for 3rd trimester/intrapartum diagnosis). Among those with a cervical screening result reported at any time (including follow-up), 21% (68/325) had a finding of cervical abnormality. In adjusted analyses, Herpes simplex virus 2 seropositivity and a recent diagnosis of bacterial vaginosis were associated with an increased risk of abnormal cervical cytology (APR 1.83 95% CI 1.07–3.11 and APR 3.49 95% CI 2.11–5.76 respectively).ConclusionsIn this high risk population, cervical screening coverage as part of HIV care was low and could be improved by an organised cervical screening programme for HIV-positive women. Bacterial vaginosis testing and treatment may reduce vulnerability to cervical abnormalities.

Abstracts: ASUM Annual Scientific Congress 2011

Abstracts: ASUM Annual Scientific Congress 2011

First trimester diagnosis of forked cord in monoamniotic twin pregnancy

A 29-year-old healthy woman at 10 weeks gestation was suspected for monoamniotic twin pregnancy, thus referred for evaluation and treatment. Ultrasound examination confirmed intrauterine monoamniotic twin gestation with central insertion of both umbilical cords by brief conjoined part (9 mm) – comprising a forked umbilical cord. Early diagnosis, planned prenatal care and close surveillance allowed preventing perinatal mortality.

OP07.06: Ectopia cordis in prenatal life

To assess fetuses with ectopia cordis (ec), association with cardiac and extra-cardiac malformation, chromosomal anomalies, pre and postnatal outcome. In a series of 13.664 fetal echocardiograms performed between May/1993 March/2011 using a Philips HD11EX ultrasound machine, 10 cases had ec. 4D echocardiography was performed in 2 pats. Gestational age ranged between 11–40 weeks. Diagnosis confirmed with postnatal echo and autopsy. The reason for fetal echo was the presence of heart exstrophy in all cases (10). Ectopia cordis was diagnosed in 10 (3.3%) cases out of 623 cardiac malformations. Of these, 6 (60%) had the heart completely outside of the chest and 4 (40%) partially. Cardiac anomalies were detected in 9 fetuses: 2 (22.2%) dorv, 2 (22.2) vsd, 2 (22.2%) tetralogy of Fallot, 1 (11.1%) truncus arteriosus, 1 (11.1% ) avsd, 1 (11.1%), pulmonary atresia. Cardiac anatomy was not visualized in 11 week fetus with further termination of pregnancy. Exomphalos was detected in 7 (70%), gastrochisis in 2 (20%), 2 cystic hygroma (20%) and 1 single umbilical artery (10%). Autopsy in 5 pats showing midline thoracic-abdominal wall defect with extrophia of liver, spleen and bowels. Also absence of sternum, diaphragma and pericardium. Fetal caryotype was performed in 7 pats, normal (6) and trisomy 18 (1). First trimester diagnosis was accomplished in 3 fetuses. Intra-uterine death occurred in (2), neonatal (5), termination of pregnancy (2) e alive (1). Placement of the heart into the chest and closure of thoracic -abdominal wall was carried out in 3 patients. Two had a muscular vsd. One neonate with complete ec had abnormal ventricular filling leading to postoperative death. One with partial ec is alive and has mild asd and the other had postoperative death. Our series showed that ectopia cordis is usually associated with cardiac malformation and defect of toraco- abdominal wall. Conotruncal anomalies was the common cardiac abnormalities worsen the prognosis. We emphasize first trimester diagnosis and better outcome in partial ec.

P07.02: First trimester diagnosis of congenital diaphragmatic hernia: too good or too bad?

P07.02: First trimester diagnosis of congenital diaphragmatic hernia: too good or too bad?

OP21.04: First trimester diagnosis of SUA—feasibility of the marker, importance in screening for aneuploidies

OP21.04: First trimester diagnosis of SUA—feasibility of the marker, importance in screening for aneuploidies

İlk trimesterde tanısı koyulan Cantrell Pentalojisi: Olgu Sunumu

İlk trimesterde tanısı koyulan Cantrell Pentalojisi: Olgu Sunumu

Fetal Aberrant Right Subclavian Artery (ARSA) – a Potential New Soft Marker in the Genetic Scan?

The aim of this study was to evaluate the prevalence of an aberrant right subclavian artery (ARSA) in a mixed-risk population in the second trimester and to assess its potential as a new soft marker in the genetic scan. Fetal echocardiography was performed prospectively in 1337 fetuses at 16-28 weeks of gestation during a 12-month period at two referral centers for prenatal diagnosis. The presence of ARSA was verified by visualization of the transverse 3-vessel trachea view with color Doppler sonography. The total rate of fetuses with an ARSA was 1.05% (14/1337). The spectrum of associated findings in affected fetuses included: one trisomy 21, one unbalanced inversion of chromosome 9, one triploidy and two non-chromosomally related structural defects. Nine fetuses had no anomalies. The calculated odds ratio for the presence of an ARSA in the case of Down syndrome compared with healthy fetuses was 12.6 (95% CI, 1.93-86.10). The presence of an ARSA is more common in fetuses with trisomy 21 and other chromosomal defects than in healthy fetuses. Although it can be considered as a weak marker, the second trimester diagnosis of an ARSA should prompt a detailed search for additional "soft markers" and structural defects.

First trimester diagnosis of sacrococcygeal teratoma using two‐ and three‐dimensional ultrasound

Sacrococcygeal teratomas are very rarely diagnosed in the first trimester. Here we report a case of a presacral mass suggestive of a sacrococcygeal teratoma that was detected during the first trimester nuchal translucency thickness measurement at 12+1 week of gestation. Although the diagnosis was possible with conventional two-dimensional sonography, three-dimensional sonography facilitated prenatal counseling by providing more recognizable images to the parents. Postmortem examination of the fetus confirmed the presence of a type 2 benign immature teratoma.

61: First trimester diagnosis of complex congenital heart disease (CHD) in high-risk patients using standardized fetal echocardiography (T1 echo) with spatio-temporal image correlation (STIC), tomographic ultrasound (TUI) and color Doppler imaging (CDI)

61: First trimester diagnosis of complex congenital heart disease (CHD) in high-risk patients using standardized fetal echocardiography (T1 echo) with spatio-temporal image correlation (STIC), tomographic ultrasound (TUI) and color Doppler imaging (CDI)