scholarly journals Prenatal diagnosis and detection rate of fetal lipomeningomyelocele

2003 ◽  
Vol 29 (5) ◽  
pp. S49
Author(s):  
D. Pugash ◽  
B. Irwin ◽  
P. Thiessen ◽  
K. Poskitt ◽  
D. Cochrane
Keyword(s):  
Prenatal Diagnosis ◽  
Detection Rate

scholarly journals Non Invasive Prenatal Diagnosis of Aneuploidy: Next Generation Sequencing or Fetal DNA Enrichment?

2012 ◽  
Vol 15 (Supplement) ◽  
pp. 17-26 ◽  
Author(s):  
Neil D. Avent ◽  
A Webb ◽  
TE Madgett ◽  
T Miran ◽  
K Sillence ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Detection Rate ◽  
Improve Patient Safety ◽  
Chorionic Villus ◽  
Diagnostic Procedures ◽  
Chorionic Villus Sampling ◽  
Group Status ◽  
Non Invasive ◽  
Fetal Dna ◽  
Cell Free Fetal Dna

ABSTRACT Current invasive procedures [amniocentesis and chorionic villus sampling (CVS)] pose a risk to mother and fetus and such diagnostic procedures are available only to high risk pregnancies limiting aneuploidy detection rate. This review seeks to highlight the necessity of investing in non invasive prenatal diagnosis (NIPD) and how NIPD would improve patient safety and detection rate as well as allowing detection earlier in pregnancy. Non invasive prenatal diagnosis can take either a proteomics approach or nucleic acid-based approach; this review focuses on the latter. Since the discovery of cell free fetal DNA (cffDNA) and fetal RNA in maternal plasma, procedures have been developed for detection for monogenic traits and for some have become well established (e.g., RHD blood group status). However, NIPD of aneuploidies remains technically challenging. This review examines currently published literature evaluating techniques and approaches that have been suggested and developed for aneuploidy detection, highlighting their advantages and limitations and areas for further research.

scholarly journals The Genetic Etiology Diagnosis of Fetal Growth Restriction Using Single-Nucleotide Polymorphism-Based Chromosomal Microarray Analysis

2021 ◽  
Vol 9 ◽  
Author(s):  
Yu'e Chen ◽  
Yingjun Xie ◽  
Yuying Jiang ◽  
Qi Luo ◽  
Lijing Shi ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Microarray Analysis ◽  
Fetal Growth ◽  
Fetal Growth Restriction ◽  
Detection Rate ◽  
Chromosomal Abnormalities ◽  
Karyotype Analysis ◽  
Growth Restriction ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis

Background: An increase in pathogenic copy number variants (pCNVs) has been recognized to associate with fetal growth restriction (FGR). Here, we aim to explore the application value of chromosomal microarray analysis (CMA) in prenatal diagnosis of FGR.Methods: Prenatal ultrasound was applied to identify FGR. A total of 149 pregnant women with FGR were enrolled in our study. All subjects underwent karyotype analysis and CMA to reveal the chromosomal abnormalities.Results: In this study, all subjects were successfully detected by karyotype and CMA analyses. Of these subjects, the chromosomal abnormalities detection rate was 5.37% (8/149) for karyotyping and 13.42% (20/149) for CMA, respectively. Among them, an 8.05% (12/149) incremental yield of CMA over karyotype analysis was observed (p = 0.004). In addition, a significant difference of pCNV detection rate was observed between the groups with different high-risk factors (p = 0.005). The FGR with structural anomalies group showed the highest pCNV detection rate (33.33%), followed by the FGR with non-structural anomalies group (8.77%) and the isolated FGR group (8.06%).Conclusion: In conclusion, CMA technology showed an effective application value in etiology diagnosis of FGR. We believe that CMA should be recommended as first-line detection technology for prenatal diagnosis in FGR.

DOZ047.27: Esophageal atresia and polyhydramnios

2019 ◽  
Vol 32 (Supplement_1) ◽  
Author(s):  
T Arntzen ◽  
A Mikkelsen ◽  
G Haugen ◽  
R Emblem
Keyword(s):  
Prenatal Diagnosis ◽  
Esophageal Atresia ◽  
Detection Rate ◽  
Type A ◽  
Lower Esophagus ◽  
Type D ◽  
Perinatal Treatment ◽  
Type C ◽  
Regional Hospitals ◽  
Ultrasound Features

Abstract Background Prenatal diagnosis of esophageal atresia (EA) is difficult and the detection rate is only 20–35%. Ultrasound features of EA are nonspecific with polyhydramnios as the most reported finding. Polyhydramnios is reported in approximately 2% of all pregnancies and thus have low specificity. The aim of our retrospective study is to explore perinatal characteristics of EA patients with prenatal suspicion of EA. Methods Patients with EA born in the periods 1996–2002 and 2011–2017 were included after consent of the parents. Data regarding the pregnancy, birth, and perinatal treatment were obtained from medical records. Results We registered a total of 124 EA patients: 68 from 1996 to 2002, and 56 from 2011 to 2017. Among the 124 patients, 5(4%) had type Gross A or B, 108(87%) type C, 6(5%) type D, and 5(4%) type E. 73(59%) patients had an associated anomaly. 20/124(16%) patients had a prenatal suspicion of EA, and there were no significant differences between neonates with and without prenatal suspicion of EA in terms of birth weight, gestational age, and prematurity. Patients with prenatal suspicion of EA had more caesarean sections, were more frequently born at regional hospitals, and had more associated anomalies. Polyhydramnios was registered in 70 patients; in 18 of these (90% of all with prenatal diagnosis) a prenatal suspicion of EA had been raised. In 52 EA patients with polyhydramnios, no prenatal statement about anomaly was registered. Four of 5 patients (90%) with type A and B had a prenatal suspicion of EA. Corresponding number for type C was 15/108(14%) and 1/5(20%) with type E. Conclusion The detection rate for EA is low, and prenatal suspicion of EA implicates a more serious condition with higher morbidity than EA patients born without prenatal suspicion of malformation. Four of five patients without fistula to lower esophagus (type A and B) had a prenatal suspicion of EA, and polyhydramnios is the ‘signal sign’ for the possible presence of esophageal atresia.

The Value of Ultrasonography Screening Trisomy 21 during the Second and Third Trimesters of Gestation

2014 ◽  
Vol 668-669 ◽  
pp. 1581-1584
Author(s):  
Yu Ping Pan
Keyword(s):  
Prenatal Diagnosis ◽  
Pregnant Women ◽  
Trisomy 21 ◽  
Detection Rate ◽  
Risk Group ◽  
Late Pregnancy ◽  
High Risk Group ◽  
Age Group ◽  
Second Trimester ◽  
The Relationship

Objective To investigate the value of ultrasonography screening trisomy 21during the second and third trimesters. Methods Amniocentesis and cordocentesis were performed on 3110 and 187pregnant women respectively with indications for prenatal diagnosis to detect karyotype of the fetus during second trimester and late pregnancy, The detection rate of trisomy 21 was compared in pregnant women of different indications. To analyze the relationship between the ultrasonography abnormalities and trisomy 21. Results In chromosomal karyotypes analysis of 3110 pregnant women by amniocentesis, 41 trisomy 21 were detected, The detection rate of trisomy 21 was 1.32%. There were 98 in 3110 pregnant women with ultrasonography abnormalities, 6 trisomy 21 were found within them and the detection rate was 6.12%, the detection rate of trisomy 21 detected by ultrasound (6.12% ) was higher than the Down,s syndrome high risk group (0.98%), advanced age group (0.58%) Within 187 pregnant women of chromosomal karyotypes analysis by cordocentesis, 9 trisomy 21 were detected and the detection rate of trisomy 21 was 4.81% . There were 128 in 187 pregnant women with ultrasonography abnormalities, 5 trisomy 21 were found within them and the detection rate of trisomy 21 was 3.91% . (P<0. 05). Conclusions During the second and third trimesters, ultrasonography has great value .

scholarly journals Application of chromosome microarray analysis in prenatal diagnosis

2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Mingjing Xia ◽  
Xinhong Yang ◽  
Jing Fu ◽  
Zhenjuan Teng ◽  
Yan Lv ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Microarray Analysis ◽  
Detection Rate ◽  
Karyotype Analysis ◽  
Copy Number Variations ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Genetic Abnormalities ◽  
Significant Difference ◽  
Chromosomal Karyotype

Abstract Background To explore the application value of chromosomal microarray analysis (CMA) in prenatal diagnosis. Methods The results of chromosome karyotype analysis and CMA of 477 cases undergoing amniocentesis were analyzed. The results of the no ultrasound abnormality group and the ultrasound abnormality group were compared separately. Within the ultrasound abnormality group, the results of the ultrasound structural malformation group, the ultrasound soft index abnormality group, and other ultrasound abnormality (including abnormal amniotic fluid volume and fetal growth restriction) groups were compared. Results Abnormal chromosome and CMA results were found in a total of 71 cases (15.88%, 71/447), which can be broken down into a total of 23 karyotype abnormalities (5.15%, 23/447), consisting of 18 cases of aneuploidy (4.03%, 18/447), 2 cases of unbalanced chromosome rearrangements (0.44%, 2/447), and 3 cases of chimerism (0.67%, 3/447); 17 cases with detection of pathogenic copy number variations (pCNVs) (3.80%, 17/447); and 31 cases of detection of clinical variants of unknown significance (VOUS) (6.93%, 31/447). CMA detected 3.8% more genetic abnormalities than karyotype analysis (in addition to the abnormalities detected simultaneously by karyotype analysis). Between the no ultrasound abnormality group and the ultrasound abnormality group, there was an extremely significant difference in the detection rate of an abnormal chromosomal karyotype (P < 0.01) and of VOUS (P < 0.01), but there was no significant difference in the detection rate of pCNV (P > 0.05). Comparing the ultrasound structural malformation group, the ultrasound soft index abnormality group, and the other ultrasound abnormality group, there were no significant differences in the detection rate of abnormal chromosomal karyotypes (P > 0.05), pCNV (P > 0.05) or VOUS (P > 0.05). Conclusions The detection rate of chromosomal karyotype abnormalities in prenatal diagnosis in cases with no ultrasound abnormalities was higher. For cases with fetal ultrasound structural abnormalities, when compared with traditional karyotype analysis, CMA can improve the detection rate of fetal genetic abnormalities. However, the no ultrasound abnormality group also had a high VOUS abnormality detection rate, so it is necessary to strictly define the CMA indications.

scholarly journals Prenatal ultrasound diagnosis of anterior abdominal wall defects in sub Saharan Africa; simple but often missed

2021 ◽  
Vol 9 (8) ◽  
pp. 2252
Author(s):  
Andrew H. Shitta ◽  
Mercy W. Isichei ◽  
Ezekiel D. Dung ◽  
Solomon D. Peter ◽  
Michael B. Ode ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Abdominal Wall ◽  
Detection Rate ◽  
Anterior Abdominal Wall ◽  
Bladder Exstrophy ◽  
Prune Belly Syndrome ◽  
Abdominal Wall Defects ◽  
Cloacal Exstrophy ◽  
Pentalogy Of Cantrell ◽  
Prune Belly

Background: Congenital anterior abdominal wall defects (AAWD) is a spectrum of abdominal wall defects that includes omphalocele, gastroschisis, bladder exstrophy, cloacal exstrophy, prune belly syndrome and pentalogy of Cantrell. Early Prenatal diagnosis of AAWD provides opportunity for abnormal karyotypes screening and planned delivery in a specialized centre. Ultrasound can detect these defects during pregnancy. This study aims to evaluate the detection rate of AAWD during routine obstetric ultrasonography in our region.Methods: A retrospective study of all patients that presented with AAWD to our centre from January 2008 to July 2020. Data included patient’s age, sex, birth weight, diagnosis, resuscitation time, outcome, maternal age, parity and antenatal ultrasound scan (USS) records. Antenatal USS before 12 weeks only, were excluded. Data analysed using excel.Results: Of the 140 with AAWD, 84.29% had omphalocele, 10% gastroschisis, 2.14% prune belly syndrome and 0.71% each with bladder exstrophy, cloacal exstrophy and pentalogy of Cantrell. There were 123 booked pregnancies. Majority (112) had antenatal care elsewhere while 11 attended our Centre. Ultrasonography of 108 pregnancies scanned at12 weeks or beyond, had 4 confirmed prenatal diagnosis of AAWD. All done in our centre. Mean gestational age at diagnosis was 24weeks. Outcome was rupture1 (25%) and 25% mortality (prenatally diagnosed) and 51.92% mortality for patients with missed diagnosis.Conclusions: Our obstetric ultrasound detection rate of AAWD is very low. There is a need for improvement in training to improve perinatal care of these defects.

Prenatal diagnosis

2020 ◽  
pp. 141-150
Author(s):  
Ana Piñas Carrillo ◽  
Amarnath Bhide
Keyword(s):  
Prenatal Diagnosis ◽  
Biochemical Markers ◽  
Detection Rate ◽  
Main Tool ◽  
Fetal Anomaly ◽  
Antenatal Screening ◽  
Ultrasound Scan ◽  
The United Kingdom ◽  
Structural Abnormalities ◽  
Routine Antenatal Care

Prenatal diagnosis commenced in the 1980s as part of routine antenatal care in the United Kingdom. Ultrasonography has become widely spread and the main tool to screen for fetal structural abnormalities and chromosomal defects together with biochemical markers. Standardization of routine antenatal screening has only been introduced recently by the National Health Service Fetal Anomaly Screening Programme (FASP) in an attempt to achieve uniformity in prenatal diagnosis around the country. A series of recommendations were made including 11 fetal conditions with a detection rate of more than 50% that should be routinely screened for in any centre in the country. Any ultrasound scan should be performed in a systematic fashion ensuring examination of every system in the fetal anatomy. It is essential to become familiarized with the normal fetal anatomy and the most common structural abnormalities and referral to a centre with appropriate expertise is imperative if any abnormality is suspected.

Application of Combined Ultrasound and Maternal Serum Biochemical Indexes in the Detection of Fetal Structural Abnormalities and Chromosomal Abnormalities

2021 ◽  
Vol 11 (7) ◽  
pp. 1920-1928
Author(s):  
Guowei Han ◽  
Tianliang Jin ◽  
Li Zhang ◽  
Chen Guo ◽  
Hua Gui ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Pregnant Women ◽  
Early Pregnancy ◽  
Chromosomal Abnormality ◽  
Detection Rate ◽  
Chromosomal Abnormalities ◽  
Umbilical Vein ◽  
Maternal Serum ◽  
Ultrasound Screening ◽  
Structural Abnormalities

By exploring different prenatal diagnosis indications of fetal chromosomal abnormalities, it can provide a theoretical basis and reference value for clinical consultation of pregnant women with similar high-risk factors. In this paper, 1800 pregnant women undergoing amniotic fluid aspiration chromosomal examination in the prenatal diagnosis center were selected as the object of this study. Amniocentesis, fetal cell culture, and karyotype analysis were performed on pregnant women who were 14-20 weeks pregnant and had signed an informed consent. After amniocentesis fetal chromosome analysis, the type of fetal chromosomal abnormality was determined, and the detection rate of chromosomal abnormality was statistically described. Chi-square test was used for comparison between groups, P < 0.05. This study shows that the use of ultrasound screening combined with maternal serum indicators is effective in screening fetal structural abnormalities and chromosomal abnormalities in early pregnancy, and significantly improves the detection rate of chromosomal abnormalities. The detection of fetal structural malformations is also very high, but it should be combined with ultrasound screening of mid-to-late pregnancy. The tricuspid regurgitation and umbilical vein a-wave reversal in the soft ultrasound index can be used as predictors of fetal congenital heart disease in early pregnancy.

Sign in / Sign up

Export Citation Format

Share Document