No abstract available.
Fetus* ; Nuchal Translucency Measurement* ; Pregnancy*

No abstract available.
Female ; Humans ; Nuchal Translucency Measurement* ; Pregnancy Trimester, First* ; Pregnancy*

OBJECTIVE: To evaluate the efficiency of the measurement of fetal nuchal translucency (FNT) and ductus venosus Doppler examination (DV Doppler) as a screening tool for chromosomal abnormalities. METHODS: FNT measurement and DV Doppler wereperformed in 950 pregnancies between 11(+0)~13(+6) weeks' gestation. Chromosomal analysis was done when FNT was more than 3 mm and DV Doppler showed absent flow or reversed flow. The numbers of cases with increased FNT and abnormal DV Doppler were counted in the groups of abnormal and normal karyotype. RESULTS: Data were available in 912 pregnancies. 11 pregnancies showed abnormal karyotype (1.2%). In the 11 cases with abnormal karyotype,increased FNT was found in 8 cases with 72.7% sensitivity and abnormal DV Doppler was found in 5 cases with 45.4% sensitivity. In the 901 cases withnormal karyotype, increased FNT was found in 33 cases with 96.3% specificity and abnormal DV Doppler was found in 12 cases with 98.7% specificity. Positive predictive value was 19.5% in cases of increased FNT, 29.4% in cases of abnormal DV Doppler, and 44.4% in cases of increased FNT and abnormal DV Doppler both. CONCLUSION: There is no improvement in general screening for chromosomal abnormalities when FNT measurement and DV Doppler were performed together. But better specificity and positive predictive value for chromosomal abnormalities were found.
Abnormal Karyotype ; Chromosome Aberrations ; Karyotype ; Mass Screening ; Nuchal Translucency Measurement ; Pregnancy ; Sensitivity and Specificity

OBJECTIVE: To examine a normal range for nuchal translucency thickness between 9 and 14 weeks' gestation in normal fetuses. METHODS: Nuchal translucency was measured prospectively in 124 fetuses between 9 and 14 weeks' gestation resulted in normal pregnancy outcome. The nuchal translucency measurement was expressed as the median and the 5th, 25th, 75th, and 95th percentiles according to complete weeks of gestation based on ultrasound measurement. RESULTS: The median nuchal translucency thickness was 1.8 mm at 9 weeks' gestation and it declined to 1.6 mm at 10 weeks. But the median thickness increased from 1.95 mm at 11 weeks to 2.3 mm at 12 weeks, after which it slightly declined to 2.25 mm at 13 weeks. And then it increased to 2.5 mm at 14 weeks. A nuchal translucency thickness greater than 2.5 mm was not found at 9 and 10 weeks' gestation, but found in 21.8% of fetuses from 11 weeks to 14 weeks. CONCLUSION: In normal fetuses, there is a physiologic variation in the thickness of nuchal translucency between 9 and 14 weeks' gestation. The calculation of risk for trisomies based on this thickness should take this variation into account. The adoption of a gestational age-dependent cutoff point, based on the deviation of a given measurement from the median, may reduce the invasive procedure for karyotyping. And this study suggest that if the nuchal translucency measurement is greater than 2.5 mm before 10 weeks, it may advise the karyotyping.
Female ; Fetus* ; Karyotyping ; Nuchal Translucency Measurement* ; Pregnancy ; Pregnancy Outcome ; Prospective Studies ; Reference Values ; Trisomy ; Ultrasonography

Nuchal translucency is an important indicator of an aneuploid fetus in prenatal diagnostics. Previously, only the presence of aneuploid could be confirmed by conventional karyotyping of fetuses with thick nuchal translucency. With the development of genetic diagnostic techniques, however, it has been reported that subtle variations not detectable by conventional karyotyping might occur in cases of pathologic clinical syndrome in euploid fetuses. One of the newer, high-resolution genetic methods in the prenatal setting is chromosomal microarray. The possible association between nuchal translucency thickness with normal karyotype and submicroscopic chromosomal abnormalities detectable by microarray has been studied. How and when to apply microarray in clinical practice, however, is still debated. This article reviews the current studies on the clinical application of microarray in cases of increased nuchal translucency with normal karyotype for prenatal diagnosis.
Aneuploidy ; Chromosome Aberrations ; Comparative Genomic Hybridization ; Fetus* ; Karyotype ; Karyotyping ; Microarray Analysis* ; Nuchal Translucency Measurement* ; Prenatal Diagnosis

OBJECTIVE: To explore the correlation between fetal nuchal fold (NF) thickening and fetal chromosomal abnormality. METHODS: In total 919 pregnant women undergoing ultrasound examination were selected for interventional prenatal diagnosis in order to detect fetal chromosomal abnormality. RESULTS: The detection rate of chromosomal abnormality has significantly increased with NF thickness, advanced maternal age, presence of other ultrasound abnormalities (P<0.05). Trisomy 21 was the most common abnormality, and there was a prepondance for male fetuses. CONCLUSION Increased NF thickness is strongly associated with the risk of fetal chromosomal abnormalities, advanced maternal age and presence of additional ultrasound abnormalities.
Chromosome Aberrations ; Female ; Fetus ; Humans ; Maternal Age ; Nuchal Translucency Measurement ; Pregnancy ; Ultrasonography, Prenatal

The present report describes a case that showed a normal fetal karyotype in an antenatal genetic study but an abnormal placental karyotype of 46,XX,r(15) on postnatal examination. The pregnancy was complicated by fetal nuchal translucency in the first trimester and intrauterine growth restriction in the second and third trimesters. A 1780 gm female baby was born after 40 weeks of gestation, but died of respiratory distress and sepsis on the 10th day of life. Our case was unique in that the placental chromosomal aberration was a structural abnormality instead of a numerical aberration that is seen in most reported cases of confined placental mosaicism.
Chromosome Aberrations ; Female ; Humans ; Karyotype ; Mosaicism* ; Nuchal Translucency Measurement ; Pregnancy ; Pregnancy Trimester, First ; Pregnancy Trimester, Third ; Sepsis

Prenatal diagnosis of Down syndrome requires an invasive test in women considered to be at high risk after screening. At present, there are variable screening tests. For a 5% false-positive rate, the sensitivities are approximately 20-30% for maternal age alone, 60-70% for maternal age and second-trimester maternal serum markers, 85% for maternal age with fetal nuchal translucency and maternal serum free beta-human chorionic gonadotropin (beta-hCG) and pregnancy-associated plasma protein-A (PAPP-A) at 11-14 weeks, and 94% for maternal age with fetal nuchal translucency and maternal serum free beta-human chorionic gonadotropin (beta-hCG) and pregnancy-associated plasma protein-A (PAPP-A) at 11-14 weeks following second-trimester maternal serum markers. This article examines the studies of screening for Down syndrome and summarizes the results from major studies reporting on the implementation of this method.
Biomarkers ; Chorionic Gonadotropin ; Down Syndrome* ; Female ; Humans ; Mass Screening ; Maternal Age ; Nuchal Translucency Measurement ; Pregnancy-Associated Plasma Protein-A ; Prenatal Diagnosis*

A first-trimester ultrasound scan has become an essential part of antenatal care. The Korean Society of Ultrasound in Obstetrics and Gynecology held a first-trimester ultrasound forum on April 5, 2014. The forum aimed to present an updated review of the literature on the topic of first-trimester ultrasound in specific lectures and to host a panel discussion on several important issues regarding first-trimester scans. The forum provided evidence- and consensus-based best practice patterns for obstetricians in Korea. Here, we report the review and checklists presented from the forum.
Checklist ; Female ; Gynecology* ; Humans ; Korea ; Lectures ; Nuchal Translucency Measurement ; Obstetrics* ; Practice Guidelines as Topic ; Pregnancy ; Pregnancy Trimester, First ; Ultrasonography*

Non-invasive prenatal testing using next generation sequencing technology with cell free fetal DNA from the blood of pregnant women has been rapidly adopted as a screening test for the detection of disorders involving chromosomal aneuploidy, especially Down syndrome. However as part of a prenatal recommendation in high-risk group, this laboratory assessment should be accompanied by informed counseling at both pre-test and post-test stages. In low-risk group and multifetal pregnancies, only conventional maternal serum screening tests in the first trimester and/or second trimester in addition to measurement of nuchal translucency should be recommended, until this potential tool has been incorporated into current screening strategic modalities on the basis ofsufficient published data.
Aneuploidy ; Counseling ; DNA* ; Down Syndrome ; Female ; Humans ; Mass Screening ; Maternal Serum Screening Tests ; Nuchal Translucency Measurement ; Pregnancy ; Pregnancy Trimester, First ; Pregnancy Trimester, Second ; Pregnant Women