The clinical usefulness of biochemical (free β-hCg, PaPP-a) and ultrasound (nuchal translucency) parameters in prenatal screening of trisomy 21 in the first trimester of pregnancy

Background: This study aimed to evaluate the results of prenatal screening and diagnosis for Down, Edward and Patau syndrome in the central of Vietnam. Materials and method: First trimester screening using combined serum marker test (free β-HCG, PAPP-A) including nuchal translucency by the FMF software. The high risk pregnancies was tested by QF-PCR diagnosis using amniotic fluid. Results: Screening for 1516 pregnancies, 145 pregnancies at high risk for Down, Edward and Patau syndrome. However, there was only 78 of them agreed to participate in diagnostic amniocentesis. Found 7 cases of abnormal number of chromosomes. Conclusion: The rate of high-risk pregnancies was 9.6%. Percentage of pregnancy with high-risk diagnostic agreement was 53.8%. The rate of abnormal number of chromosomes was 9.0%, in which 85.7% of T21, 14.3% of T18, did not find any cases of T13 detected by QF-PCR technique.

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PRENATAL DIAGNOSIS FOR TRISOMY 21, 18 AND 13 BY QUANTITATIVE FLUORESCENT POLYMERASE CHAIN REACTION AMONG PREGNANT WOMEN WITH HIGH RISK

Journal of Medicine and Pharmacy ◽

10.34071/jmp.2018.4.13 ◽

2018 ◽

Vol 8 (4) ◽

pp. 88-95

Author(s):

Thi Ha Thi Minh ◽

Nghia Le Trung ◽

Nhan Nguyen Viet ◽

Duc Vo Van ◽

Uyen Le Thanh Nha ◽

...

Keyword(s):

Prenatal Diagnosis ◽

High Risk ◽

Pregnant Women ◽

Trisomy 21 ◽

Maternal Age ◽

First Trimester ◽

Nuchal Translucency ◽

Trisomy 18 ◽

Trisomy 13 ◽

Β Hcg

Introduction: Prenatal diagnosis of trisomy 21, 18 and 13 plays a very important role in the improving population quality. This study was aimed at (1) Identifying the prevalence of trisomy 21, 18 and 13 by QFPCR from amniotic cells of high-risk pregnancies; and (2) Evaluating the association between diagnosed trisomies and some characteristics of mother and fetus. Objectives and methods: 170 pregnant women with high risk of having trisomy 21, 18 or 13 fetuses during first trimester screening (gestation age from 11 weeks to 13 weeks 6 days). DNA was extracted from amniocytes for prenatal diagnosis using QF-PCR. Results: The prevalence of trisomies was 9.4%, among which trisomy 21 and trisomy 18 accounted for 68.8% and 31.2%, respectively; none of them was trisomy 13. There was the significant association between diagnosed trisomies and maternal age (cut-off 30.5 years old) and nuchal translucency thickness (cut-off 1.95 mm). MoM median of free β-hCG increased in trisomy 21 group (4.35, p = 0.021) and decreased in trisomy 18 group (0.13, p < 0.001) as compared to the non-trisomy group (2.28). MoM median of serum PAPP-A decreased in trisomy 18 group (0.14, p = 0.004) as compared to the non-trisomy group (0.54). Conclusion: Prenatal diagnosis by QF-PCR detected remarkable prevalence of fetuses with trisomy 21 và 18. There was the significant association between diagnosed trisomies and maternal age, nuchal translucency thickness, free β-hCG and serum PAPP-A. Key words: prenatal diagnosis, trisomy, QF-PCR

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Ultrasound Markers of Aneuploidy in the First Trimester

Donald School Journal of Ultrasound in Obstetrics & Gynecology ◽

10.5005/jp-journals-10009-1501 ◽

2017 ◽

Vol 11 (1) ◽

pp. 20-28

Author(s):

Zoran Belics ◽

Zoltán Papp

Keyword(s):

Chromosomal Aberrations ◽

Prenatal Screening ◽

Chromosomal Abnormalities ◽

Early Recognition ◽

False Positive Rate ◽

First Trimester ◽

Nuchal Translucency ◽

First Trimester Of Pregnancy ◽

High Standards ◽

Screening Sensitivity

ABSTRACT Prenatal screening of fetal aneuploidy is a continuously and rapidly evolving area of research; there have been tremendous advancements over the past decades in prenatal screening for aneuploidy, especially during the first trimester. As there is extensive evidence that effective screening for major chromosomal abnormalities can be provided in the first trimester of pregnancy, recently we have changed our practice; the prenatal screening of fetal chromosomal aberrations has been moved and pointed to the first trimester. Besides the nuchal translucency, which is one of the most known ultrasonographic markers, there are other markers, which can be examined during the first trimester of pregnancy. To maximize the quality of sonography, increase the screening sensitivity, and decrease the range of false-positive rate, all of the first-trimester ultrasound markers have well-established criteria for the measurement. With the use of high standards of scanning, the early recognition of sonographic markers of chromosomal aberrations can be helpful in forward prenatal diagnosis. On the contrary, the early diagnosis makes the termination of the pregnancy possible with fewer complications, and there is time for planning of further follow-up and interventions. How to cite this article Belics Z, Papp Z. Ultrasound Markers of Aneuploidy in the First Trimester. Donald School J Ultrasound Obstet Gynecol 2017;11(1):20-28.

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The impact of fetal gender on first trimester nuchal translucency and maternal serum free β-hCG and PAPP-A MoM in normal and trisomy 21 pregnancies

Prenatal Diagnosis ◽

10.1002/pd.2246 ◽

2009 ◽

Vol 29 (6) ◽

pp. 578-581 ◽

Cited By ~ 28

Author(s):

Nicholas J. Cowans ◽

Anastasia Stamatopoulou ◽

Nerea Maiz ◽

Kevin Spencer ◽

Kypros H. Nicolaides

Keyword(s):

Trisomy 21 ◽

First Trimester ◽

Nuchal Translucency ◽

Maternal Serum ◽

Serum Free ◽

Fetal Gender ◽

Β Hcg ◽

The Impact

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First trimester ultrasound screening for trisomy 21 based on maternal age, fetal nuchal translucency and different combinations of the additional markers nasal bone, tricuspid and ductus venosus flow

Ultraschall in der Medizin - European Journal of Ultrasound ◽

10.1055/s-0035-1558776 ◽

2015 ◽

Vol 36 (S 01) ◽

Author(s):

KO Kagan ◽

M Hoopmann ◽

P Wagner ◽

H Abele

Keyword(s):

Trisomy 21 ◽

Maternal Age ◽

Nasal Bone ◽

First Trimester ◽

Nuchal Translucency ◽

Ductus Venosus ◽

Ultrasound Screening ◽

First Trimester Ultrasound

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Can increased nuchal translucency in the first trimester of pregnancy predict gestational diabetes mellitus

Journal of Obstetrics and Gynaecology ◽

10.1080/01443610500231518 ◽

2005 ◽

Vol 25 (6) ◽

pp. 579-582 ◽

Cited By ~ 17

Author(s):

S. Kelekci ◽

B. Yilmaz ◽

K. Savan ◽

S. Sonmez

Keyword(s):

Diabetes Mellitus ◽

Gestational Diabetes ◽

Gestational Diabetes Mellitus ◽

First Trimester ◽

Nuchal Translucency ◽

First Trimester Of Pregnancy ◽

Increased Nuchal Translucency

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Intracardiac Doppler assessment of left valve inflow in first-trimester fetuses with increased nuchal translucency: preliminary observations in trisomy 21

Ultrasound in Obstetrics and Gynecology ◽

10.1002/uog.2817 ◽

2006 ◽

Vol 28 (1) ◽

pp. 77-81 ◽

Cited By ~ 4

Author(s):

M. A. Zoppi ◽

R. M. Ibba ◽

M. Floris ◽

F. Manca ◽

C. Axiana ◽

...

Keyword(s):

Trisomy 21 ◽

First Trimester ◽

Nuchal Translucency ◽

Left Valve ◽

Increased Nuchal Translucency

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False Positive Values of Biomarkers of Prenatal Screening on Chromosomopathy as Indicators of a Risky Pregnancy

Journal of Medical Biochemistry ◽

10.2478/v10011-011-0010-x ◽

2011 ◽

Vol 30 (2) ◽

pp. 126-130 ◽

Cited By ~ 1

Author(s):

Jasmina Durković ◽

Luka Anđelić ◽

Bojana Mandić ◽

Denis Lazar

Keyword(s):

Genetic Screening ◽

False Positive ◽

Prenatal Screening ◽

Protein A ◽

First Trimester ◽

Maternal Serum ◽

Fetal Hypoxia ◽

Beta Hcg ◽

First Trimester Of Pregnancy ◽

Fetal Karyotype

False Positive Values of Biomarkers of Prenatal Screening on Chromosomopathy as Indicators of a Risky PregnancyGenetic screening on chromosomopathy has been performed on 2000 pregnant women in their first trimester of pregnancy by determining Pregnancy associated plasma protein-A and free-beta HCG biomarkers in maternal serum. After obtaining a normal fetal karyotype, the pathological values of the biomarkers have been correlated with other pregnancy disorders, and the possible causes of the positive genetic screening have been tested. 340 false positive biomarkers (17%) have been detected. The increased free-beta HCG (48.24%) had a significant influence. A significant correlation (p > 0.01) between the increased free-beta HCG and bleeding during pregnancy has been established. Complications occurred in 78.52% pregnancies with pathological biomarkers, MISSed in 13.82%, miscarriages in 10.88%, induced pregnancy terminations caused by fetal anomalies in 8.82% and births with disturbed fetal vitality in 45%. The research results have shown a significant correlation (p > 0.01) between the increased value of the free-beta HCG biomarkers and fetal hypoxia. The false positive genetic screening, caused by the increased free-beta HCG, can indicate placental dysfunction and fetal vitality disruption.

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