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

OBJECTIVE: To determine the frequency of chromosomal abnormalities and outcome of pregnancy for fetuses with increased nuchal translucency (NT). METHODS: Between July 2014 and February 2018, 247 fetuses with increased NT (>95th centile)were analyzed by chromosome microarray analysis (CMA). The fetuses were divided into ones with isolated increased NT (168 cases), increased NT with cystic hygroma (20 cases), increased NT with edema (12 cases) or increased NT with other abnormalities (47 cases). All couples were followed up by telephone calls. RESULTS: The rate of chromosomal abnormalities was 31.6% (78/247), which included 66 cases with chromosomal aneuploidies and 12 with copy number variants (CNVs). CNVs accounted for 31.4% (11/35) of total abnormalities among fetuses with isolated increased NT, whilst only 2.3% (1/43) of the total abnormalities among fetuses with non-isolated increased NT. Three fetuses with a normal CMA result had mental and physical retardation. Two of them were diagnosed with single gene disorders by whole exome sequencing. CONCLUSION CMA can detect more chromosomal microdeletion/microduplications among fetuses with isolated increased NT. Furthermore, fetuses with increased NT and anegative CMA result during pregnancy cannot exclude all adverse outcomes.
Aneuploidy ; Chromosome Aberrations ; Chromosomes ; DNA Copy Number Variations ; Edema ; Female ; Fetus ; Humans ; Lymphangioma, Cystic ; Microarray Analysis ; Nuchal Translucency Measurement ; Pregnancy ; Pregnancy Outcome ; Prenatal Diagnosis ; Ultrasonography, Prenatal

OBJECTIVE: To assess the value of chromosomal microarray analysis (CMA) and trio-whole exome sequencing (trio-WES) for fetuses with increased nuchal translucency (NT) thickness. METHODS: Sixty two pregnant women who had visited Urumqi Maternal and Child Care Health Hospital between June 2018 and June 2020 for NT ≥ 3.0 mm at 11 ~ 13⁺⁶ gestational weeks were selected as study subjects. Relevant clinical data were collected. The patients were divided into 3.0 ~ ＜3.5 mm (n = 33) and ≥3.5 mm groups (n = 29). Chromosome karyotyping analysis and chromosomal microarray analysis were carried out. And trio-WES analysis was performed on 15 samples with NT thickening but negative CMA results. The distribution and incidence of chromosomal abnormalities in the two groups were compared by using chi-square test. RESULTS: The median age of the pregnant women was 29 years old (22 ~ 41 years old), the median thickness of NT was 3.4 mm (3.0 ~ 9.1 mm), and the median gestational age at the detection was 13⁺⁴ weeks (11⁺⁵ ~ 13⁺⁶ weeks). Chromosome karyotyping analysis has detected 12 cases of aneuploidies and 1 case of derivative chromosome. The detection rate was 20.97% (13/62). CMA has detected 12 cases of aneuploidies, 1 case of pathogenic CNV and 5 cases of variant of uncertain significance (VUS), with a detection rate of 29.03% (18/62). The aneuploidy rate for the NT ≥ 3.5 mm group was higher than that for the 3.0 ≤ NT < 3.5 mm group [3.03% (1/33) vs. 41.38% (12/29), χ² = 13.698, P < 0.001]. There was no statistically significant difference between the two groups in the detection rate of fetal pathogenic CNV and VUS (χ² = 0.028, P > 0.05). Trio-WES analysis of 15 samples with negative CMA result and no structural abnormality has identified 6 heterozygous variants, including SOS1: c.3542C>T (p.A1181V) and c.3817C>G (p.L1273V), COL2A1: c.436C>T (p.P146S) and c.3700G>A (p.D1234N), LZTR1: c.1496T>C (p.V499A), and BRAF: c.64G>A (p.D22N), respectively. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), all of the variants were rated as VUS. CONCLUSION NT thickening can indicate chromosome abnormality, and CMA and trio-WES may be used for the prenatal diagnosis.
Pregnancy ; Humans ; Female ; Adult ; Infant ; Nuchal Translucency Measurement/methods* ; Prenatal Diagnosis/methods* ; Chromosome Aberrations ; Aneuploidy ; Fetus/diagnostic imaging* ; Ultrasonography, Prenatal ; DNA Copy Number Variations ; Transcription Factors

PURPOSE: The purpose is to aid in the diagnosis and obstetric management by analysing the ultrasonographic findings of prenatally diagnosed Edward syndrome. METHOD: The study population consisted of 15 cases prenatally diagnosed Edward syndrome from January 1993 to January 1999. The medical charts and ultrasonographic findings were reviewed retrospectively, and especially the ultrasonographic findings before prenatal genetic diagnosis were anlyzed. RESULTS: All of the 15 cases reviewed showed at least one ultrasonographic finding suggesting Edward syndrome. In the first trimester, 2 cases revealed cystic hygroma and increased nuchal translucency, and after the second trimester, major structural anomalies including congenital heart anomalies and minor ultrasonographic findings such as choroid plexus cyst were noted. All of cases after 21 weeks of gestation showed congenital heart anomaly, and as the pregnancy progressed there was an increased tendency of intrauterine growth restriction and polyhydramnios. CONCLUSION: Prenatal ultrasonography in the screening process of Edward syndrome can be placed as a very informative method, as all of the Edward syndrome cases revealed at least one abnormal ultrasonographic findings. As congenital heart anomalies were found in all of the cases after 21 weeks of gestation, fetal echocardiography should be considered in evaluating suspected cases of Edward syndrome.
Choroid Plexus ; Diagnosis ; Echocardiography ; Female ; Heart ; Humans ; Lymphangioma, Cystic ; Mass Screening ; Nuchal Translucency Measurement ; Polyhydramnios ; Pregnancy ; Pregnancy Trimester, First ; Pregnancy Trimester, Second ; Retrospective Studies ; Ultrasonography* ; Ultrasonography, Prenatal

OBJECTIVE: This study aimed to survey the current clinical practice of first-trimester ultrasonography among members of the Korean Society of Ultrasound in Obstetrics and Gynecology (KSUOG) and to provide basic data for making practical recommendations about first-trimester ultrasonography scan in Korea. METHODS: This survey was conducted using a self-administered anonymous questionnaire. The first-trimester in this survey was divided into two parts: early and late first-trimester. The survey was focused on safety issue, nuchal translucency (NT) cutoff, the anatomic structures they check, and the need for practical recommendations or educational courses during the first-trimester. RESULTS: During the study period, 194 KSUOG members participated into this survey. The survey on early first-trimester scan reveal that 173 (89.2%) of respondents had used pulsed-wave Doppler or color Doppler imaging to monitor fetal heart beat. For the late first-trimester scan, 145 (74.7%) of respondents was found to check for fetal anatomical assessments during their NT screening performance; however, the clinical practice patterns were considerably varied among participants. More than half of the respondents used the criterion of NT > or =3.0 mm to define increased NT. Approximately 80% of respondents stated that the screening ultrasonography of fetal structures in the first-trimester was necessary. Furthermore, 187 (96.4%) of respondents were in favor of a recommendation for first-trimester ultrasonography in Korea. CONCLUSION: This is the first survey of the current clinical practice of first-trimester ultrasonography in Korea. Our survey findings highlight the need for the practical recommendation or educational course for first-trimester ultrasonography.
Anonyms and Pseudonyms ; Female ; Fetal Heart ; Fetus ; Gynecology* ; Humans ; Korea ; Mass Screening ; Nuchal Translucency Measurement ; Obstetrics* ; Physician's Practice Patterns* ; Pregnancy ; Pregnancy Trimester, First ; Surveys and Questionnaires* ; Ultrasonography* ; Ultrasonography, Prenatal*

OBJECTIVE: To analyze the prognosis of fetuses with cystic hygroma (CH) or nuchal translucency (NT) or nuchal fold (NF) thickening detected by prenatal echography. METHODS: From January 2014 to December 2015, 124 fetuses with CH and NT/NF thickening on prenatal echography were enrolled from Women's Hospital of Zhejiang University School of Medicine. The basic clinical information, ultrasonic results, pregnancy outcomes and newborn follow-ups were analyzed. The cases were grouped by prognosis and the factors affecting prognosis were analyzed with logistic regression. RESULTS: There were 85 cases of labor induction including one stillbirth and 39 cases delivered. Except one infant who died after birth, all live births survived with good prognosis. Univariate analysis showed that the gestational age at diagnosis of poor prognosis group was earlier than that of good prognosis group (<0.01); and the former group also had higher hydrops fetalis rate and additional structural anomalies rate (all <0.01). Multivariate regression analysis showed that hydrops fetalis (=90.105, <0.05) and additional structural anomalies (=61.854, <0.05) were risk factors of poor prognosis in fetuses with CH and NT/NF thickening. CONCLUSIONS Fetuses with diagnosed CH or NT/NF thickening on prenatal ultrasonography are likely to be associated with chromosomal abnormality. Early gestational weeks, hydrops fetalis and additional structural anomalies may indicate poor prognosis.
Female ; Fetus ; Humans ; Hydrops Fetalis ; etiology ; Infant, Newborn ; Lymphangioma, Cystic ; complications ; diagnosis ; Nuchal Translucency Measurement ; Pregnancy ; Pregnancy Outcome ; Prognosis ; Ultrasonography, Prenatal

PURPOSE: This study aimed to evaluate the clinical usefulness of non-invasive prenatal testing (NIPT) as an alternative testing of invasive diagnostic testing in pregnancies with ultrasound abnormalities. MATERIALS AND METHODS: This was a retrospective study of pregnant women with abnormal ultrasound findings before 24 weeks of gestation between April 2016 and March 2017. Abnormal ultrasound findings included isolated increased nuchal translucency, structural anomalies, and soft markers. The NIPT or diagnostic test was conducted and NIPT detected trisomy 21 (T21), T18, T13 and sex chromosomal abnormalities. We analyzed the false positive and residual risks of NIPT based on the ultrasound findings. RESULTS: During the study period, 824 pregnant women had abnormal ultrasound findings. Among the study population, 139 patients (16.9%) underwent NIPT. When NIPT was solely performed in the patients with abnormal ultrasound findings, overall false positive risk was 2.2% and this study found residual risks of NIPT. However, the discordant results of NIPT differed according to the type of abnormal ultrasound findings. Discordant results were significant in the group with structural anomalies with 4.4% false positive rate. However, no discordant results were found in the group with single soft markers. CONCLUSION: This study found different efficacy of NIPT according to the ultrasound findings. The results emphasize the importance of individualized counseling for prenatal screening or diagnostic test based on the type of abnormal ultrasound.
Chromosome Aberrations ; Congenital Abnormalities ; Counseling ; Diagnostic Tests, Routine ; Down Syndrome ; Female ; Humans ; Nuchal Translucency Measurement ; Pregnancy* ; Pregnant Women ; Prenatal Diagnosis ; Retrospective Studies ; Ultrasonography*

No abstract available.
Ultrasonography, Prenatal*

No abstract available
Ultrasonography, Prenatal*

No abstract available.
Ultrasonography, Prenatal*