Identification of maternal serum biomarkers for prenatal diagnosis of nonsyndromic orofacial clefts

Xinhuan Wang ◽  
Xiaohong Yang ◽  
Pei Huang ◽  
Xiujiao Meng ◽  
Zhuan Bian ◽  
2020 ◽  
Vol 10 (1) ◽  
L. Ormesher ◽  
L. Warrander ◽  
Y. Liu ◽  
S. Thomas ◽  
L. Simcox ◽  

AbstractAbnormal maternal serum biomarkers (AMSB), identified through the aneuploidy screening programme, are frequent incidental findings in pregnancy. They are associated with fetal growth restriction (FGR), but previous studies have not examined whether this association is with early-onset (< 34 weeks) or late-onset (> 34 weeks) FGR; as a result there is no consensus on management. The aims of this study were to determine the prevalence and phenotype of FGR in women with AMSB and test the predictive value of placental sonographic screening to predict early-onset FGR. 1196 pregnant women with AMSB underwent a 21–24 week “placental screen” comprising fetal and placental size, and uterine artery Doppler. Multivariable regression was used to calculate a predictive model for early-onset FGR (birthweight centile < 3rd/< 10th with absent umbilical end-diastolic flow, < 34 weeks). FGR prevalence was high (10.3%), however early-onset FGR was uncommon (2.3%). Placental screening effectively identified early-onset (area under the curve (AUC) 0.93, 95% confidence interval (CI) 0.87–1.00), but not late-onset FGR (AUC 0.70, 95% CI 0.64–0.75). Internal validation demonstrated robust performance for detection/exclusion of early-onset FGR. In this cohort, utilisation of our proposed algorithm with targeted fetal growth and Doppler surveillance, compared with universal comprehensive surveillance would have avoided 1044 scans, potentiating significant cost-saving for maternity services.

Reproduction ◽  
2003 ◽  
pp. 279-297 ◽  
MA Hulten ◽  
S Dhanjal ◽  
B Pertl

Molecular techniques have been developed for prenatal diagnosis of the most common chromosome disorders (trisomies 21, 13, 18 and sex chromosome aneuploidies) where results are available within a day or two. This involves fluorescence in situ hybridization (FISH) and microscopy analysis of fetal cells or quantitative fluorescence polymerase chain reaction (QF-PCR) on fetal DNA. Guidance is provided on the technological pitfalls in setting up and running these methods. Both methods are reliable, and the risk for misdiagnosis is low, although slightly higher for FISH. FISH is also more labour intensive than QF-PCR, the latter lending itself more easily to automation. These tests have been used as a preamble to full chromosome analysis by microscopy. However, there is a trend to apply the tests as 'stand-alone' tests for women who are at relatively low risk of having a baby with a chromosome disorder, in particular that associated with advanced age or results of maternal serum screening programmes. These women comprise the majority of those currently offered prenatal diagnosis with respect to fetal chromosome disorders and if introduced on a larger scale, the use of FISH and QF-PCR would lead to substantial economical savings. The implication, on the other hand, is that around one in 500 to one in 1000 cases with a mentally and/or physically disabling chromosome disorder would remain undiagnosed.

1995 ◽  
Vol 10 (2) ◽  
pp. 76-80 ◽  
M. David ◽  
N. Israel ◽  
R. Merksamer ◽  
N. Bar-Nizan ◽  
Z. Borochowitz ◽  

2018 ◽  
Vol 5 (3) ◽  
pp. 139-143
Sarang Younesi ◽  
Shahram Savad ◽  
Soudeh Ghafouri-Fard ◽  
Mohammad Mahdi Taheri-Amin ◽  
Pourandokht Saadati ◽  

1994 ◽  
Vol 1 (4) ◽  
pp. 233-237 ◽  
Joan K Morris ◽  
David E Mutton ◽  
Roy Ide ◽  
Eva Alberman ◽  
Martin Bobrow

The national register of chromosomal anomalies that lead to Down's syndrome has enabled the monitoring of change in prenatal diagnosis for this condition, and the factors which affect the change. The proportion of cases of cytogenetically diagnosed Down's syndrome in England and Wales detected prenatally rose to 46% in 1991–2 from 31% in 1988–9, a 1·5-fold increase (95% confidence interval 1·3 to 1·7). The increase was confined to mothers under 40 years and was due to the introduction of screening by maternal serum analysis and ultrasound. Over a quarter of affected pregnancies in women aged 25–29 were detected prenatally in 1991–2 compared with less than 10% in 1988–9. Analysis of the data showed regional differences in prenatal diagnosis rates, and in the length of time elapsing between the diagnostic test and termination of an affected pregnancy. An inexplicable finding was that this period varied with the sex of the fetus, being on average a day longer for females than for males.

1989 ◽  
Vol 4 (4) ◽  
pp. 161-165
Robert A. Kanfmann ◽  
Arie Drugan ◽  
Mark I. Evans ◽  
Deborah Mitchell ◽  
Yoav Ben-Yoseph ◽  

2019 ◽  
Vol 54 (S1) ◽  
pp. 158-158
C. Egloff ◽  
G. Benchimol ◽  
M. Bensemlali ◽  
D. Bonnet ◽  
H. Mahallati ◽  

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