OP23.08: The risk of aneuploidy in fetuses with low first trimester risk assessment and single umbilical artery (SUA) diagnosed at the second trimester anomaly scan

This case study describes an obstetrical patient who presented for a routine second-trimester morphology sonogram in which the fetus was found to have arthrogryposis multiplex congenita. Other abnormalities visualized included a single umbilical artery, hypoplastic nasal bone, polyhydramnios, and poorly visualized lateral ventricles. Amniocentesis demonstrated a normal microarray with a negative result for cytomegalovirus and toxoplasmosis. This case study highlights the utility of prenatal sonography to identify functional abnormalities of the fetal musculoskeletal system.

Download Full-text

The effects of isolated single umbilical artery on first and second trimester aneuploidy screening test parameters

The Journal of Maternal-Fetal & Neonatal Medicine ◽

10.3109/14767058.2014.928856 ◽

2014 ◽

Vol 28 (6) ◽

pp. 690-694 ◽

Cited By ~ 4

Author(s):

Firat Tulek ◽

Alper Kahraman ◽

Salih Taskin ◽

Esra Ozkavukcu ◽

Feride Soylemez

Keyword(s):

Screening Test ◽

Umbilical Artery ◽

Second Trimester ◽

Single Umbilical Artery ◽

Aneuploidy Screening ◽

Test Parameters

Download Full-text

Prenatal ultrasonographic manifestations of partial trisomy 12q(12q24.2→qter) and partial monosomy 2q (2q37.3→qter)

Vojnosanitetski pregled ◽

10.2298/vsp170316136j ◽

2020 ◽

Vol 77 (7) ◽

pp. 754-757

Author(s):

Ivana Joksic ◽

Thomas Liehr ◽

Mina Toljic ◽

Natasa Karadzov-Orlic ◽

Zagorka Milovanovic ◽

...

Keyword(s):

Umbilical Artery ◽

Partial Trisomy ◽

First Trimester ◽

Derivative Chromosome ◽

Chromosome 2 ◽

Balanced Translocation ◽

Single Umbilical Artery ◽

Partial Monosomy ◽

Cardiac Ventricle ◽

Cytogenetic Analyses

Introduction. Partial trisomy of chromosome 12 long arm is rare condition with significant clinical impact and is usually diagnosed postnatally. Case report. We present prenatal sonographic findings and molecular cytogenetic characterization of partial trisomy 12q and partial monosomy 2q in two consecutive pregnancies of a healthy non-consanguineous couple. A 35-year-old pregnant woman G3P1A1 was referred to genetic counseling due to sonographic anomalies detected in the fetus. First trimester ultrasound examination revealed hyperechogenic focus in the left cardiac ventricle, single umbilical artery, hyperechogenic bowel and unilateral clubfoot with knee joint ankylosis. Previous pregnancy of the couple was terminated at 26th gestation weeks due to multiple fetal anomalies: bilateral ventriculomegaly, corpus callosum hypoplasia, single umbilical artery and clubfoot. In G3P1A1, amniocentesis was performed and cytogenetic analyses revealed a derivative chromosome 2. Subsequent cytogenetic analyses of parental lymphocytes showed that paternal karyotype was normal, while maternal karyotype showed a der(2). Metaphase fluorescence in situ hybridization (FISH) studies demonstrated partial trisomy 12q24.2?12qter and partial monosomy 2q37.3?2qter in the fetus, resulting from an unbalanced segregation of a maternal balanced translocation t(2;12)(q37.3;q24.2). To date, this is the first such prenatally detected case. Literature search revealed three more cases of prenatally detected partial trisomy 12q and anomalies described were consistent with ones detected in present case. Our findings contribute to further clinical delineation of partial trisomy 12q. Conclusion. Prenatal detection of single umbilical artery, clubfoot, arthogryposis and ventriculomegaly should alert suspicion to chromosome 12q aberrations.

Download Full-text

Prediction of placental pathology during the second trimester of pregnancy using a new risk assessment scale and fetal cardiotocography

Voprosy ginekologii akušerstva i perinatologii ◽

10.20953/1726-1678-2020-5-36-43 ◽

2020 ◽

Vol 19 (5) ◽

pp. 36-43

Author(s):

R.S. Zamaleeva ◽

◽

N.A. Cherepanova ◽

A.V. Frizina ◽

E.Yu. Yupatov ◽

...

Keyword(s):

Risk Assessment ◽

At Risk ◽

Gestational Hypertension ◽

Neonatal Morbidity ◽

First Trimester ◽

Normal Pregnancy ◽

Assessment Scale ◽

Second Trimester ◽

Placental Pathology ◽

Perinatal Complications

Objective. Рreclinical prognosis of placental pathology (PP) during the second trimester of pregnancy using a new risk assessment scale and fetal cardiotocography (CTG). Patients and methods. This retrospective study included 264 patients who had undergone risk assessment during the first trimester of pregnancy using the conventional scale followed by reassessment on weeks 12–15 using the new scale. There were 102 women with PP and 162 women with normal pregnancy and delivery. We also performed prospective analysis of CTG results obtained during the second trimester. Results. The calculation of the risk for perinatal complications during the first trimester using the conventional scale demonstrated that 31% of women had PP. After recalculating the risks in the beginning of the second trimester, we found that 90% of women had PP; there was a threefold increase in the accuracy of prognosis. Women with pathological variants of CTG and risk of PP were 1.34 times more likely to have delayed fetal growth, 1.8 times more likely to develop preeclampsia, 2.6 times more likely to have preterm birth, 1.2 times more likely to have gestational hypertension, and 1.75 times more likely to have neonatal morbidity compared to women at risk of PP, but with normal CTG variants during the second trimester. Conclusion. Combination of the new risk assessment scale and CTG during the second trimester helps to identify women at risk of gestational pathology and to find and optimal tactics of their management. Key words: CTG, placental pathology, placental insufficiency, risk scale

Download Full-text

Detection of Single Umbilical Artery in the First Trimester Ultrasound: Its Value as a Marker of Fetal Malformation

BioMed Research International ◽

10.1155/2014/548729 ◽

2014 ◽

Vol 2014 ◽

pp. 1-6 ◽

Cited By ~ 4

Author(s):

Cristina Martínez-Payo ◽

Elena Cabezas ◽

Yolanda Nieto ◽

Miguel Ruiz de Azúa ◽

Fátima García-Benasach ◽

...

Keyword(s):

Umbilical Artery ◽

False Positive Rate ◽

False Negative ◽

False Negative Rate ◽

First Trimester ◽

University Hospital ◽

Fetal Malformation ◽

Single Umbilical Artery ◽

Sensitivity Specificity ◽

First Trimester Ultrasound

Introduction. The value of a single umbilical artery (SUA) in first trimester ultrasound is not well established. The aim of our study was to determinate the relevance of diagnosis of single umbilical artery in first trimester ultrasound as an early marker suggesting the presence of malformations or associated chromosomopathies.Material and Methods. Retrospective study of clinical cases of SUA diagnosed at the University Hospital Puerta de Hierro in Madrid (Spain) during the first trimester ultrasound between September 2008 and September 2012.Results. Prevalence of SUA was 1.1% in single pregnancies and 3.3% in twin pregnancies. Sensitivity, specificity, false positive rate, and false negative rate for the finding in the first trimester were 84.2, 99.8, 0.2, and 15.7%, respectively. 17.6% of cases had associated malformations. With an ultrasound in the 16th week most of the cases with significant fetal malformation were diagnosed.Discussion. SUA is a useful marker in the first trimester for fetal malformation pathology, as it will allow detecting a large number of cases with malformations before 20 weeks of gestation.

Download Full-text