Non-invasive prenatal diagnosis: Implications for antenatal diagnosis and management of high-risk pregnancies

2008 ◽  
Vol 13 (2) ◽  
pp. 84-90 ◽  
Author(s):  
M.S. Alberry ◽  
P.W. Soothill
Keyword(s):  
Prenatal Diagnosis ◽  
High Risk ◽  
Antenatal Diagnosis ◽  
Diagnosis And Management ◽  
Non Invasive

scholarly journals Certain historical, practical and scientific aspects of prenatal diagnostics in st. Petersburg

2004 ◽  
Vol 53 (1) ◽  
pp. 82-88
Author(s):  
V. S. Baranov
Keyword(s):  
Prenatal Diagnosis ◽  
High Risk ◽  
Research Methods ◽  
Rapid Growth ◽  
Medical Genetics ◽  
Practical Significance ◽  
Non Invasive ◽  
Methodological Problems ◽  
Biochemical Research ◽  
Selection Of

Prenatal diagnosis (PD), as a relatively new area of ​​medical genetics, is experiencing a period of rapid growth. Methodological problems of PD associated with the selection of women at high risk of congenital and hereditary pathology, complex examination of the fetus using non-invasive (ultrasound) and invasive (cytogenetic, molecular, biochemical) research methods have already been resolved. Further increase in the effectiveness of PD, its scientific and practical significance depends entirely on the level of organization of this service in the field and its funding. An important role in the development of modern PD in Russia was played by the PD laboratory of the N.I. BEFORE. Otta RAMS.

scholarly journals Lower detectability of non-invasive prenatal testing compared to prenatal diagnosis in high-risk pregnant women

2019 ◽  
Vol 7 (14) ◽  
pp. 319-319 ◽  
Author(s):  
Jing Wang ◽  
Zhi-Wei Wang ◽  
Qin Zhou ◽  
Bin Zhang ◽  
Ting Yin ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
High Risk ◽  
Pregnant Women ◽  
Prenatal Testing ◽  
Non Invasive

Prenatal Diagnosis for Pediatricians

PEDIATRICS ◽  
1980 ◽  
Vol 65 (6) ◽  
pp. 1185-1186
Author(s):  
Charles R. Scriver ◽  
Murray Feingold ◽  
Neil A. Holtzman ◽  
Peter Mamunes ◽  
Henry L. Nadler ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
Clinical Practice ◽  
Prenatal Diagnosis ◽  
Antenatal Diagnosis ◽  
New Technology ◽  
Diagnosis And Management ◽  
Current Standards

Pediatricians should be familiar with the principles of antenatal diagnosis and how they should be applied to specific problems in genetic counseling, diagnosis, and management in clinical practice. At the same time, pediatricians should be familiar with the resources for the new technology available to them in their region, and they should assure themselves that the performance of antenatal diagnosis meets current standards.

Antenatal diagnosis and pre-implantation genetic testing

2018 ◽  
Author(s):  
Frances Flinter
Keyword(s):  
Prenatal Diagnosis ◽  
Genetic Testing ◽  
Molecular Level ◽  
Antenatal Diagnosis ◽  
Genetic Diagnosis ◽  
Recurrence Risk ◽  
Antenatal Screening ◽  
Ultrasound Scan ◽  
Specific Diagnosis ◽  
Non Invasive

Routine pregnancy screening (e.g. ultrasound scan) may lead unexpectedly to the identification of an underlying renal problem whose aetiology may not be apparent immediately. It is important to recognize genetic causes so that associated problems in other organs can be anticipated and the recurrence risk for future pregnancies established. Specific diagnosis at a cytogenetic or molecular level may be essential if the options of early prenatal diagnosis or pre-implantation genetic diagnosis are to be available to the couple in future pregnancies. This chapter discusses the topics of antenatal screening, prenatal diagnosis (including invasive and non-invasive diagnosis and counselling) and intervention, and pre-implantation genetic diagnosis.

scholarly journals Clinical Experience with Fetal Sex Chromosome Aneuploidy Identified by Non-Invasive Prenatal Testing in 45773 Cases

2020 ◽  
Author(s):  
Xinran Lu ◽  
Chaohong Wang ◽  
Yuxiu Sun ◽  
Junxiang Tang ◽  
Keting Tong ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
High Risk ◽  
Pregnant Women ◽  
Maternal Age ◽  
Sex Chromosome ◽  
Karyotype Analysis ◽  
Prenatal Testing ◽  
Sex Chromosome Aneuploidy ◽  
Non Invasive ◽  
Chromosome Aneuploidy

Abstract Objective: To investigate the positive predictive value (PPV) and clinical features of non-invasive prenatal testing (NIPT) as a screening method in detecting sex chromosome aneuploidy (SCA) within a high-risk population at the Maternity and Child Health Hospital of Anhui Province.Methods: From June 2015 to June 2019, 45773 women with singleton pregnancies volunteered to take an NIPT. Cell-free fetal DNA was extracted for high-throughput sequencing and amniocentesis karyotype analysis was performed in pregnant women. Results: 314 high-risk pregnant women underwent NIPT and 143 chose invasive prenatal diagnosis. Karyotype analysis was performed in amniotic fluid cells, wherein 7 cases of 45,X (PPV: 12.50%), 16 cases of 47,XXX (PPV: 55.17%), 25 cases of 47,XXY (PPV: 71.43%), and 10 cases of 47,XYY(PPV: 76.92%) were confirmed. The PPV of NIPT for SCA was 40.56%. The rate of SCA detected in women aged 40 years and older was 0.39%, which was significantly different from that detected in women aged <30, 30–34, and 35–39 years (P < 0.05). The detection rates of 47,XXX and 47,XXY were significantly correlated with maternal age (P < 0.05), but those of 45,X and 47,XYY showed no significant correlation with maternal age.Conclusion: NIPT can be applied for the detection of SCA, but the detection accuracy is low. Genetic counseling and further prenatal diagnosis should be provided.

scholarly journals Prenatal diagnosis of 2193 pregnant women with invasive indications for chromosomal abnormalities in southern China: a retrospective study

2020 ◽  
Author(s):  
Xiaodong Gu ◽  
Sudong Liu ◽  
Huaxian Wang ◽  
Ruiqiang Weng ◽  
Xuemin Guo ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
High Risk ◽  
Pregnant Women ◽  
Genetic Screening ◽  
Prenatal Screening ◽  
Chromosomal Abnormalities ◽  
Prenatal Testing ◽  
Chromosome Abnormalities ◽  
Screening Methods ◽  
Non Invasive

Abstract Background: Although a variety of non-invasive techniques are used for prenatal genetic screening and diagnosis, our knowledge remains limited regarding the relationship between high-risk prenatal indications and fetal chromosomal abnormalities.Methods: We retrospectively investigated the prenatal genetic screening and karyotype analysis results of pregnant women who had undergone invasive prenatal testing in Prenatal Diagnosis Department of Meizhou People’s Hospital during Jan. 1, 2015 to Dec. 31, 2019. We analyzed the frequencies of chromosome abnormalities in women with high-risk indications.Results: A total of 2,193 pregnant women who had underwent invasive prenatal testing were included in our analysis. Chromosomal abnormalities occurred in 10.3% of these women, and rate increased with maternal age (P < 0.001). The frequencies of chromosome abnormalities varied for women with different high-risk indications, which was 10.3% (226/2193) for abnormal ultrasound results, 3.3% (31/938) for positive serum screening test results, 61.4% (78/127) for positive NIPT results, 9.3% (13/140) for AMA and 11.1% (10/90) for obstetric/family history. Follow up data showed that 380 pregnant women opted for termination the pregnancy, including 211 (55.5%) due to karyotype abnormalities and 169 (45.5%) due to abnormal ultrasonic outcomes.Conclusion: Our data suggested that the prenatal screening methods have high false positive rates. NIPT is the most accurate non-invasive prenatal screening. Apart from karyotype abnormality, abnormal ultrasound results alone accounted for a big part of pregnancy termination.

scholarly journals Analysis of Prenatal Diagnosis Results and Pregnancy Outcome of Non-invasive Prenatal Screening High-risk Fetuses

2020 ◽  
Author(s):  
Yan Luo ◽  
Yanmei Sun ◽  
Haishen Tian ◽  
Hezhen Lu ◽  
Lishuang Ma ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
High Risk ◽  
Pregnant Women ◽  
Clinical Significance ◽  
Prenatal Screening ◽  
Trisomy 13 ◽  
Chromosomal Microarray Analysis ◽  
Non Invasive ◽  
Chromosomal Karyotype

Abstract BackgroundWith the development of whole-genome sequencing, small chromosomal deletions and duplications could be found by NIPT. This study is to evaluate the clinical significance of fetal chromosomal karyotype analysis and chromosomal microarray analysis (CMA) to clarify the clinical significance of 528 cases of high-throughput sequencing noninvasive prenatal screening suggesting high-risk cases. MethodsNon-invasive prenatal screening showed that the fetus 21, 18, 13, sex chromosomes, and other chromosomes are at high risk of aneuploidy and fetal chromosome copy number variations (CNVs) are at high risk, requiring prenatal diagnosis Pregnant women are the research objects. After obtaining informed consent, fetal cells were obtained by amniocentesis or umbilical vein puncture for chromosomal karyotype and CMA analysis. All cases of childbirth were followed up by telephone over a period of 1 year.Results Among 528 fetuses, 447 were at high risk of aneuploidy. The positive predictive value (PPV) for trisomy 21(T21), trisomy 18 (T18), trisomy 13 (T13), sex chromosome aneuploidies (SCAs), and other chromosome aneuploidy was 85.24%, 51.52%, 12.5%, 50.82%, and 5.88% respectively. Another 81 cases of non-invasive prenatal screening suggest CNVs High risk. The PPV for CNVs was 34.57% .Among them, CNVs has a clear pathogenic significance can reach 24.69% . Follow-up of childbirth cases: Of the 62 pregnant women diagnosed with fetal SCA, 13 chose to continue their pregnancy, and the overall continued pregnancy rate was 20.97% (13/62); CNVs has no clear significance/no disease reported in 8 cases, 1 case After being lost to follow-up, all 7 cases chose to continue their pregnancy. One of the children was not informed about the specific situation; one girl had six fingers on both hands, and the rest had no abnormal growth; the remaining five children developed normally. ConclusionThis study has obtained relatively reliable PPV data for NIPT screening for chromosomal aneuploidy, which provides a reliable basis for clinical genetic counseling and treatment; it is recommended to perform prenatal diagnosis and perform chromosomal nucleus when non-invasive and high-risk prompts suspicious chromosomal abnormalities (over/under/microdeletion/microduplication). Type and CMA inspection, so that the inspection is more comprehensive and not easy to miss the diagnosis.

scholarly journals Antenatal Diagnosis of a Rare Neural Tube Defect: Sincipital Encephalocele

2015 ◽  
Vol 2015 ◽  
pp. 1-4
Author(s):  
Mehdi Kehila ◽  
Sana Ghades ◽  
Hassine Saber Abouda ◽  
Aida Masmoudi ◽  
Mohamed Badis Chanoufi
Keyword(s):  
Differential Diagnosis ◽  
Case Report ◽  
Prenatal Diagnosis ◽  
High Risk ◽  
Neural Tube ◽  
Antenatal Diagnosis ◽  
Neonatal Morbidity ◽  
Mri Imaging ◽  
Fetal Medicine ◽  
Risk Of Mortality

Context. Fetal sincipital encephalocele is one of the most serious congenital neural tube defects with a high risk of mortality and neonatal morbidity. Prenatal diagnosis of this malformation is important in fetal medicine.Case Report. We report a case of prenatal diagnosis of sincipital encephalocele using ultrasound and MRI imaging. The diagnosis was done at 25 weeks of gestation by identifying an anterior cephalic protrusion through a defect in the skull.Conclusion. Through this case, we discuss the differential diagnosis, management, and prognosis of such lesions.

Dual and multiple trisomies: analysis of 38 cases from 13 thousand karyotyped embryos and fetuses

2017 ◽  
pp. 109-115
Author(s):  
N.P. Veropotvelyan ◽  
Keyword(s):  
Prenatal Diagnosis ◽  
High Risk ◽  
Pregnant Women ◽  
Maternal Age ◽  
Chromosomal Abnormalities ◽  
Chorionic Villus ◽  
Primary Group ◽  
Chorionic Villus Sampling ◽  
Missed Abortion ◽  
Reproductive Losses

The study presents data of different authors, as well as its own data on the frequency of multiple trisomies among the early reproductive losses in the I trimester of pregnancy and live fetuses in pregnant women at high risk of chromosomal abnormalities (CA) in I and II trimesters of gestation. The objective: determining the frequency of occurrence of double (DT) and multiple trisomies (MT) among the early reproductive losses in the I trimester of pregnancy and live fetuses in pregnant women at high risk of occurrence of HA in I and II trimesters of gestation; establishment of the most common combinations of diesel fuel and the timing of their deaths compared with single regular trisomy; comparative assessment materinskogo age with single, double and multiple trisomies. Patients and methods. During the period from 1997 to 2016, the first (primary) group of products in 1808 the concept of missed abortion (ST) of I trimester was formed from women who live in Dnepropetrovsk, Zaporozhye, Kirovograd, Cherkasy, Kherson, Mykolaiv regions. The average term of the ST was 8±3 weeks. The average age of women was 29±2 years. The second group (control) consisted of 1572 sample product concepts received during medical abortion in women (mostly residents of Krivoy Rog) in the period of 5-11 weeks of pregnancy, the average age was 32 years. The third group was made prenatally karyotyped fruits (n = 9689) pregnant women with high risk of HA of the above regions of Ukraine, directed the Centre to invasive prenatal diagnosis for individual indications: maternal age, changes in the fetus by ultrasound (characteristic malformations and echo markers HA) and high risk of HA on the results of the combined prenatal screening I and II trimesters. From 11 th to 14 th week of pregnancy, chorionic villus sampling was performed (n=1329), with the 16th week – platsentotsentez (n=2240), 18 th and 24 th week – amniocentesis (n=6120). Results. A comparative evaluation of maternal age and the prevalence anembriony among multiple trisomies. Analyzed 13,069 karyotyped embryonic and fetal I-II trimester of which have found 40 cases of multiple trisomies – 31 cases in the group in 1808 missed abortion (2.84% of total HA), 3 cases including 1 572 induced medabortov and 7 cases during 9689 prenatal research (0.51% of HA). Determined to share the double trisomies preembrionalny, fetal, early, middle and late periods of fetal development. Conclusion. There were no significant differences either in terms of destruction of single and multiple trisomies or in maternal age or in fractions anembrionalnyh pregnancies in these groups. Key words: multiple trisomies, double trisomy, missed abortion, prenatal diagnosis.

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