Prenatal diagnosis of congenital anomalies in an intrauterine growth retarded fetus

1976 ◽  
Vol 32 (3) ◽  
pp. 349-352 ◽  
Author(s):  
Mitchell S. Golbus ◽  
Bryan D. Hall ◽  
Robert K. Creasy
Keyword(s):  
Prenatal Diagnosis ◽  
Congenital Anomalies ◽  
Intrauterine Growth

scholarly journals Prenatal diagnosis of triploidy in second trimester of pregnancy: a series of 4 cases over an eleven-year period / Diagnosticul prenatal al triploidiei în trimestrul al II-lea de sarcină: o serie de patru cazuri depistate în unsprezece ani

2015 ◽  
Vol 23 (2) ◽  
Author(s):  
Demetra Socolov ◽  
Elena Mihălceanu ◽  
Diana Popovici ◽  
Eusebiu Vlad Gorduza ◽  
Raluca Balan ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Congenital Anomalies ◽  
Intrauterine Growth Retardation ◽  
Chromosomal Anomalies ◽  
Ultrasound Scan ◽  
Second Trimester ◽  
Intrauterine Growth ◽  
Dysmorphic Features ◽  
Diagnostic Difficulties ◽  
One Year

AbstractTriploidy is a numerical chromosomal anomaly characterized by the presence of three sets of haploid chromosomes. The incidence is hard to evaluate, because usually it causes 1st trimester miscarriage. At 20 weeks of amenorrhea the incidence of triploidy is estimated at 1/250,000 cases. We present 4 cases of triploidy diagnosed during the decade 2003-2013 in the Prenatal Diagnosis Department of Maternity “Cuza-Vodă” Iasi, Romania, all registered in one year. The analysis of pathological cases identified in the last 11 years by prenatal diagnosis has shown that triploidies represented only 5.7% of numeric chromosomal anomalies, but in 2013 the four cases of triploidy represented 36% of numeric chromosomal anomalies. The karyotypes were recommended after discovering different congenital anomalies by ultrasound scan. In all cases, an intrauterine growth retardation (IUGR) was present but with no placental changes. Also, we discovered anomalies of limbs, congenital anomalies of heart and some dysmorphic features. This series demonstrates that triploidy may be discovered in the 2nd trimester of pregnancy and has a heterogeneous aspect at ultrasound scan, which can generate diagnostic difficulties. Therefore, the detection by ultrasound scan, at 18-22 weeks of pregnancy, of complex foetal morphological abnormalities should be an important reason for amniocentesis to search chromosomal anomalies

Prenatal diagnosis of mosaic ring chromosome 22 associated with cardiovascular abnormalities and intrauterine growth restriction

2003 ◽  
Vol 23 (1) ◽  
pp. 40-43 ◽  
Author(s):  
Chih-Ping Chen ◽  
Schu-Rern Chern ◽  
Tung-Yao Chang ◽  
Chen-Chi Lee ◽  
Li-Feng Chen ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Intrauterine Growth Restriction ◽  
Ring Chromosome ◽  
Growth Restriction ◽  
Chromosome 22 ◽  
Intrauterine Growth ◽  
Cardiovascular Abnormalities

scholarly journals Trends in resource use and effectiveness of ultrasound detection of fetal structural anomalies in France: a multiple registry-based study

BMJ Open ◽  
2019 ◽  
Vol 9 (2) ◽  
pp. e025482 ◽  
Author(s):  
Clément Ferrier ◽  
Ferdinand Dhombres ◽  
Babak Khoshnood ◽  
Hanitra Randrianaivo ◽  
Isabelle Perthus ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Pregnant Women ◽  
Outcome Measures ◽  
Resource Use ◽  
Congenital Anomalies ◽  
Ultrasound Screening ◽  
Healthcare Database ◽  
Prenatal Detection ◽  
Two Samples ◽  
Over Time

ObjectiveTo analyse trends in the number of ultrasound examinations in relation to the effectiveness of prenatal detection of birth defects using population-based data in France.DesignA multiple registry-based study of time trends in resource use (number of ultrasounds) and effectiveness (proportion of cases prenatally diagnosed).SettingThree registries of congenital anomalies and claims data on ultrasounds for all pregnant women in France.ParticipantsThere were two samples of pregnant women. Effectiveness was assessed using data from three French birth defect registries. Resource use for ultrasound screening was based on the French national healthcare database.Main outcome measuresThe main outcome measures were prenatal diagnosis (effectiveness) and the average number of ultrasounds (resource use). Statistical analyses included linear and logistic regression models to assess trends in resource use and effectiveness of prenatal testing, respectively.ResultsThe average number of ultrasound examinations per pregnancy significantly increased over the study period, from 2.47 in 2006 to 2.98 in 2014 (p=0.005). However, there was no significant increase in the odds of prenatal diagnosis. The probability of prenatal diagnosis was substantially higher for cases associated with a chromosomal anomaly (91.2%) than those without (51.8%). However, there was no evidence of an increase in prenatal detection of either over time.ConclusionsThe average number of ultrasound examinations per pregnancy increased over time, whereas the probability of prenatal diagnosis of congenital anomalies did not. Hence, there is a need to implement policies such as high-quality training programmes which can improve the efficiency of ultrasound examinations for prenatal detection of congenital anomalies.

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