The role of first‐trimester ultrasound screening for women with positive noninvasive prenatal testing results

2021 ◽  
Author(s):  
Mizue Saito ◽  
Mayumi Tokunaka ◽  
Minako Goto ◽  
Hiroko Takita ◽  
Tatsuya Arakaki ◽  
...  
Keyword(s):  
Prenatal Testing ◽  
First Trimester ◽  
Ultrasound Screening ◽  
Noninvasive Prenatal Testing ◽  
First Trimester Ultrasound

scholarly journals Cytomegalovirus Infection during Pregnancy and Its Impact on the Intrauterine Fetal Development – Case Report

2016 ◽  
Vol 4 (3) ◽  
pp. 449-452 ◽  
Author(s):  
Mariya Angelova Angelova ◽  
Emil Kovachev ◽  
Nikolai Todorov
Keyword(s):  
Clinical Manifestations ◽  
First Trimester ◽  
Time Interval ◽  
Good Prediction ◽  
Ultrasound Screening ◽  
Serological Tests ◽  
Ultrasound Findings ◽  
First Trimester Of Pregnancy ◽  
Brain Ventricle

AIM: The aim of this publication is to present a case of CMV infection during pregnancy, with clinical manifestations of the development of microcephaly and simultaneous dilatation of the 3rd and 4th brain ventricle at 23 weeks gestation. This article discusses the role of ultrasound screening in the second trimester of pregnancy.CASE PRESENTATION: We present the case of a 25-year-old woman with the initials S.K. in her second pregnancy that came to our antenatal Consulting Centre. The first screening for blood count, blood group, biochemistry and serology showed results within the reference range. The patient came for a second comprehensive biochemical screening at 17 – 18 weeks gestation. The results showed the low genetic risk of congenital anomalies. Fetal morphology of the fetus was normal. S.K. came again for consultation at 22 weeks gestation in connection with the admittance of her first 3-year-old child to the hospital because of pneumonia. Serological tests of the child had shown elevated CMV titer - specific IgM. Then we made new serological tests of the patient and the results have shown that the patient was most likely infected by CMV primarily in the first trimester of pregnancy. After consulting about the risk of transmission of CMV to the fetus, the woman chose monthly ultrasound scans and refused amniocentesis. At 36 weeks gestation, in addition to the microcephaly already established, enlargement of the IV brain ventricle at the expense of underdevelopment of the cerebellum was noticed. Also, 2nd to 3rd stage of placenta maturity and low quantity of amniotic fluid was established. A male fetus of weight 2,890 g and height 50 cm was delivered.   The fetus was with skin petechiae and hepatosplenomegaly. Neurological examination showed no abnormalities.CONCLUSIONS: In the described case the time interval between infection and ultrasonic manifestations is more than 17 weeks. The long interval between infection and occurrence of ultrasound markers can be a good prediction sign, as it may reflect less aggressive viral infection than present in cases where similar ultrasound findings were obtained shortly after infection of the mother.

Association of Combined First-Trimester Screen and Noninvasive Prenatal Testing on Diagnostic Procedures

2014 ◽  
Vol 123 (6) ◽  
pp. 1303-1310 ◽  
Author(s):  
Sebastian Larion ◽  
Steven L. Warsof ◽  
Letty Romary ◽  
Margaret Mlynarczyk ◽  
David Peleg ◽  
...  
Keyword(s):  
Prenatal Testing ◽  
Diagnostic Procedures ◽  
First Trimester ◽  
Noninvasive Prenatal Testing

First-trimester ultrasound screening for chromosomal defects

1996 ◽  
Vol 7 (3) ◽  
pp. 216-226 ◽  
Author(s):  
R. J. M. Snijders ◽  
S. Johnson ◽  
N. J. Sebire ◽  
P. L. Noble ◽  
K. H. Nicolaides
Keyword(s):  
First Trimester ◽  
Ultrasound Screening ◽  
Chromosomal Defects ◽  
First Trimester Ultrasound

Survey on the future organisation of first-trimester ultrasound screening in Flanders, Belgium

2005 ◽  
Vol 25 (6) ◽  
pp. 518-519 ◽  
Author(s):  
Wilfried Gyselaers ◽  
Luc De Catte ◽  
Ingrid Witters ◽  
Eric de Jonge ◽  
Willem Ombelet ◽  
...  
Keyword(s):  
First Trimester ◽  
Ultrasound Screening ◽  
The Future ◽  
First Trimester Ultrasound

Use of endocervical trophoblasts in noninvasive prenatal testing for common aneuploidies

2020 ◽  
Vol 19 (4) ◽  
pp. 75-80
Author(s):  
E.V. Musatova ◽  
◽  
M.V. Kapustina ◽  
M.E. Minzhenkova ◽  
Zh.G. Markova ◽  
...  
Keyword(s):  
Pregnant Women ◽  
Prenatal Testing ◽  
First Trimester ◽  
Dna Probes ◽  
Fish Analysis ◽  
Trophoblast Cells ◽  
Noninvasive Prenatal Testing ◽  
Chorionic Villi ◽  
Trimester Screening ◽  
Reliable Methods

The article presents an experience of isolation of trophoblast cells from cervical samples of pregnant women and demonstrates a possibility of determining aneuploid cells in cervical samples using FISH analysis. Objective. To study methods of effective isolation and reliable detection of trophoblasts for genetic pathology analysis. Patients and methods. The participants of the study were three pregnant women, who according to the findings of the combined first trimester screening test were referred to the group with a high risk for fetal aneuploidy. The terms of gestation varied from 12 to 14 wks. Immunocytochemical detection of trophoblast cells was performed with FITC-labelled HLA-G antibodies. FISH was performed with the use of locus-specific DNA probes on chromosomes 13/21 and a DNA probe on chromosome 18 centromere. The chromosome set of a fetus was verified by the results of standard cytogenetic analysis of semi-direct chromosome preparations from cytotrophoblast cells obtained by chorionic villi biopsy. Results. HLA-G-positive cells were found in all examined cytological specimens. FISH analysis with the use of DNA probes on chronomomes, whose trisomies are compatible with live birth, detected aneuploid cells in all three cases. Conclusion. The use of cervical trophoblasts for noninvasive collection of information about the genetic status of the developing fetus at present needs further study of effective and reliable methods of their isolation, detection and analysis. Key words: aneuploidy, throphoblast cells, NIPT, prenatal diagnosis, HLA-G

Uptake of Noninvasive Prenatal Testing in Chinese Women following Positive Down Syndrome Screening

2014 ◽  
Vol 37 (2) ◽  
pp. 141-147 ◽  
Author(s):  
C.F. Poon ◽  
W.C. Tse ◽  
K.O. Kou ◽  
K.Y. Leung
Keyword(s):  
Down Syndrome ◽  
Chinese Women ◽  
Multivariable Analysis ◽  
Chorionic Villus ◽  
Prenatal Testing ◽  
First Trimester ◽  
Screening Methods ◽  
Chorionic Villus Sampling ◽  
Noninvasive Prenatal Testing ◽  
Down Syndrome Screening

Objectives: To investigate how the introduction of noninvasive prenatal testing (NIPT) influenced women's testing choices following a positive Down syndrome screening. Methods: A retrospective study was conducted to compare differences in the uptake rates of invasive prenatal diagnosis (IPD) or no testing in one public hospital 1 year before (pre-NIPT) and 1 and 2 years after the introduction of NIPT in private in August 2011 using descriptive analysis and a χ2 test. Conventional screening was funded publicly, but NIPT was not. Multivariable binary logistic regression was used to determine factors affecting choices. Results: In pre-NIPT and in years 1 and 2 after the introduction of NIPT, 306, 362 and 401 women who screened positive were seen, respectively. In year 1 and year 2, 12.6 and 26.7% of them underwent NIPT while IPD was decreased by 16.3 and 25.6%, respectively (p < 0.001). Both chorionic villus sampling and amniocentesis decreased in year 1, but only the former in year 2. However, the rate of declining further testing was similar before and after NIPT (p = 0.213). In multivariable analysis, first trimester screening, nulliparity and working women were significant predictors of accepting NIPT, while only nulliparity was a predictor of declining IPD (OR = 0.61). Conclusions: Introduction of NIPT resulted in a significant decrease in IPD for 2 consecutive years.

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