scholarly journals The 11-13+6 Weeks Scan: Where do We Stand? A 5-year Review at Fernandez Hospital

2011 ◽  
Vol 2 (2) ◽  
pp. 65-69 ◽  
Author(s):  
Suseela Vavilala ◽  
K Geeta
Keyword(s):  
Pregnant Women ◽  
Maternal Age ◽  
Chromosomal Abnormalities ◽  
Cost Effective ◽  
Nuchal Translucency ◽  
Fetal Medicine ◽  
Screening Cost ◽  
Expectant Mothers ◽  
Increased Nuchal Translucency

ABSTRACT Objective To examine the clinical utility of 11-13+6 weeks scan for screening for chromosomal abnormalities and to assess the potential value of the same ultrasound examination in the early diagnosis of fetal structural anomalies. Design A prospective interventional study at Fetal Medicine Unit, Fernandez Hospital Pvt Ltd, a tertiary care perinatal center, Hyderabad, India, between September 2005 and March 2010. Methods All pregnant women < 13+6 weeks at booking are offered a routine obstetric scan between 11 and 13+6 weeks. All scans are done by obstetricians who are accredited by Fetal Medicine Foundation. All expectant mothers undergoing 11-13+6 weeks scan were included; all expectant mothers with antenatal booking after 14 weeks were excluded from the study. Results Between September 2005 and March 2010, a total of 11,012 scans were done between 11 and 13+6 weeks. Complete follow-up was available for 7,916 cases; 1,460 are ongoing pregnancies and 1,636 expectant mothers were lost to follow-up. The median maternal age in our population is 27 years and 340 (4.30%) mothers had advanced (> 35 years) maternal age. The median NT in our population is 1.58 mm. Increased nuchal translucency (NT > 95th percentile) was found in 362 (4.59%) scans. Miscarriages/abortions and termination of pregnancy were significantly higher in women whose fetus had an increased nuchal translucency thickness. Nuchal translucency thickness was significantly higher in women with advanced maternal age (ANOVA F = 0.002, Fishers exact test p-value for equality of medians = 0.04). Absent fetal nasal bones were present in 20 (5.57%) of women with increased NT compared to five (0.07%) women with normal NT. Among 7,916 women, 367 (4.64%) women were screen positive for chromosomal abnormalities. After counseling, only 40 screen-positive women accepted prenatal diagnostic procedures. Skull/brain abnormalities were found in 25 fetal images, abdominal abnormalities in 17, spinal abnormalities in eight, bladder abnormalities in five and cardiac abnormalities in five fetal images. Conclusion The 11-13+6 weeks ultrasound scan is an important diagnostic tool that should be offered to all pregnant women as a routine standard of antenatal care in the first trimester of pregnancy in India. However, as a screening tool, it mandates addition of cost-effective biochemical tests. To make the combined screening cost-effective, this study calls for making a national policy for Down's syndrome screening for India.

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.

scholarly journals Follow-up in Patients With Non-invasive Prenatal Screening Failures: A Reflection on the Choice of Further Prenatal Diagnosis

2021 ◽  
Vol 12 ◽  
Author(s):  
Sha Liu ◽  
Hongqian Liu ◽  
Jianlong Liu ◽  
Ting Bai ◽  
Xiaosha Jing ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
Prenatal Diagnosis ◽  
Pregnant Women ◽  
Prenatal Screening ◽  
Chromosomal Abnormalities ◽  
Detection Methods ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Non Invasive

BackgroundOur aim was to provide a theoretical basis for clinicians to conduct genetic counseling and choose further prenatal diagnosis methods for pregnant women who failed non-invasive prenatal screening (NIPS).MethodsA retrospective analysis was performed on pregnant women who had failed NIPS tests.ResultsAmong the 123,291 samples, 394 pregnant women did not obtain valid results due to test failures. A total of 378 pregnant women were available for follow-up, while 16 patients were lost to follow-up. Of these 378, 135 pregnant women chose further prenatal diagnosis through amniocentesis, and one case of dysplasia was recalled for postpartum chromosome testing. The incidence rate of congenital chromosomal abnormalities in those who failed the NIPS was 3.97% (15/378), which was higher than that of the chromosomal abnormalities in the common population (1.8%). Among the pregnant women who received prenatal diagnosis, the positive rates of chromosomal abnormalities in the chromosomal microarray analysis/copy number variation sequencing (CMA/CNV-seq) group and in the karyotyping group were 15.28 and 4.76%, respectively.ConclusionPrenatal diagnosis should be strongly recommended in posttest genetic counseling for pregnant women with NIPS failures. Further, high-resolution detection methods should be recommended for additional prenatal diagnoses.

Long-term Outcome of Pregnancies with Increased Nuchal Translucency and Normal Karyotype

2009 ◽  
Vol 3 (3) ◽  
pp. 83-90 ◽  
Author(s):  
L Orosz ◽  
J Lukács ◽  
M Szabó ◽  
T Kovács ◽  
I Zsupán ◽  
...  
Keyword(s):  
First Trimester ◽  
Nuchal Translucency ◽  
Healthy Children ◽  
Cardiac Defects ◽  
Long Term Outcome ◽  
Long Term Follow Up ◽  
Minor Anomalies ◽  
Increased Nuchal Translucency

Abstract Objectives The aim of this study was to examine the prevalence of major and minor anomalies according to the increase of NT thickness. Methods This is a long-term retrospective study in which singleton gestations of euploid fetuses with increased NT were analyzed. NT measurement was performed in the first trimester examination according to the criteria of fetal medicine foundation (FMF) when the fetal crown-rump length (CRL) was 45 to 84 mm. The cases were followed up from 1 to 5 years postpartum to assess the presence of CHD and to point out other anomalies that could be associated with increased NT. Results The outcome of 133 cases could be analysed out of 198 pregnancies of which in 55 cases some congenital anomalies (minor or major) were revealed up to the 5 years of life (prevalence of 41.4%). The prevalence of CHDs, including the defects of the great vessels, stood out among the others. In the group with NT between 95th and 99th centiles four cases with minor heart problems were identified (11.1%, 4/36). The rate of major cardiac defects proved to be 13.3% (6/45) in the group with NT between 3.5-4.4 mm, and 17.3% (9/52) in the group with NT > 4.5 mm. Among the 35 healthy children with various minor health problems not related to the presence of increased nuchal translucency there were 7 cases with hydrocele. In 3 of them it was associated with unilateral inguinal hernia but in 3 it was isolated and one was part of a complex malformation (The rate of other organ-specific anomalies did not prove to be significant). In the whole study population only thirteen cases (9.8%) ended up in intrauterine death, or arteficial abortion. Conclusion The prevalence of major cardiac defects as well as other major anomalies increases with fetal nuchal thickness. Since the prevalence of CHD is 100 times higher in the population of fetuses with NT above 4.5 mm, specialist fetal echocardiography should be offered in the second trimester together with other follow-up investigations. Among the children without any major abnormalities, a high number of minor anomalies were revealed during the long-term follow-up. These anomalies do not have significant disadvantage to the quality of life, but some of them necessitates short or long-term medical treatment and this should also be leveled with the future parents. Despite the numerous investigations the exact etiology of increased NT remains unknown. The relatively high prevalence of hydrocele in the newborns in our material raises the question wheather it is related to the presence of NT in the fetal period because of abnormal lymphatic development or alterations in the extracellular matrix. Further long-term follow-up studies could probably contribute to find explanation on the etiology of increased NT in the first trimester. These data can be used when counseling parents of euploid fetuses with increased fetal NT.

scholarly journals Increased nuchal translucency: it’s not just aneuploidy

2020 ◽  
Vol 9 (11) ◽  
pp. 4677
Author(s):  
Reema Kumar Bhatt ◽  
Pranjali Dwivedi ◽  
Anubhuti Rana
Keyword(s):  
Trisomy 21 ◽  
Chromosomal Abnormalities ◽  
Adverse Pregnancy Outcome ◽  
Heart Defects ◽  
Nuchal Translucency ◽  
Intrauterine Death ◽  
Genetic Syndromes ◽  
Fetal Malformations ◽  
Adverse Pregnancy ◽  
Increased Nuchal Translucency

Nuchal translucency (NT) measurement between 11- and 14-weeks’ gestation is an established and consistently performing marker for chromosomal abnormalities, including trisomy 21. Even in the absence of aneuploidy in the event of normal conventional karyotyping or microarray analysis, increased NT is prognosticative of adverse pregnancy outcome, because it is associated with miscarriages, congenital heart defects, several fetal malformations, many genetic syndromes, skeletal dysplasia’s, intrauterine death; the majority of these structural anomalies are undetectable before birth. The parents should be reassured that in the absence of any abnormality detected the fetus will have a normal uneventful outcome and postnatal development when compared to the general population outcome.

scholarly journals Normal Reference Range of Fetal Nuchal Translucency Thickness Among Pregnant Women of Igbo Extraction in Enugu, South-East Nigeria

2020 ◽  
Author(s):  
Charles Ugwoke Eze ◽  
Sandra Nnenna Okenwa ◽  
Everistus obinna Abonyi ◽  
Julius Amechi Agbo ◽  
Sobechukwu Warric Iwene Onwuzu ◽  
...  
Keyword(s):  
Pregnant Women ◽  
Maternal Age ◽  
Pearson Correlation ◽  
Chorionic Villus ◽  
Nuchal Translucency ◽  
Chorionic Villus Sampling ◽  
Strong Positive Correlation ◽  
Positive Correlation ◽  
Baseline Values ◽  
The Relationship

Abstract Background: Screening of fetus for congenital anomaly has posed a great challenge to obstetricians and other caregivers even as early identification can improve the chances of getting the best possible outcome. Early fetal anomaly screening is usually done using nuchal translucency scan and other invasive procedures such Chorionic villus sampling and amniocentesis. Increase in Nuchal translucency thickness (NTT) above a certain baseline values has been found to predict fetus with anomaly. Baseline values in use are generated from Caucasian population even though these values are known to be population specific. Hence, their use on any given population may lead to errors and introduce potential misdiagnosis. Therefore, there is need for population specific baseline values of NTT.Objectives: The study is aimed at developing baseline values of NTT among apparently normal fetuses from pregnant women of Igbo ethnic group and to assess the relationship of NTT with maternal age and fetal gestational age (FGA).Methods: This cross-sectional study involved 658 pregnant women of Igbo Origin between 11-14 weeks of gestation at Esut Teaching Hospital (Parklane) Enugu from August 2017 to February 2018. Pilot study was done to determine the interobserver variation between sonographers while final NTT was calculated as mean of three separate measurements. The 5th, 50th and 95th percentiles were calculated using polynomial regression while Pearson correlation was used to determine the relationship between NTT, maternal age and FGA. Results: The NTT measurement was shown to be reliable and reproducible. Mean ± S/D NTT obtained was 0.92 ± 0.23 mm. There was a strong positive correlation between NTT measurements and FGA (r = 0.823, p < 0.001); while there was weak but positive correlation between NTT measurements and Maternal age (r = 0.055, p > 0.001). Conclusion: Nuchal translucency thickness measurement increases with increase in FGA while a baseline value of NTT among pregnant women of Igbo extraction has been generated.

scholarly journals Lack of consensus in the choice of termination of pregnancy for Turner syndrome in France

2019 ◽  
Vol 19 (1) ◽  
Author(s):  
Monika Hermann ◽  
Babak Khoshnood ◽  
Olivia Anselem ◽  
Claire Bouvattier ◽  
Aurélie Coussement ◽  
...  
Keyword(s):  
Turner Syndrome ◽  
Clinical History ◽  
Nuchal Translucency ◽  
Termination Of Pregnancy ◽  
Fetal Medicine ◽  
Vignette Study ◽  
History Of ◽  
Normal Ultrasound ◽  
Multilevel Logistic Regression Model ◽  
Increased Nuchal Translucency

Abstract Background The observed rate of termination of pregnancy (TOP) for Turner syndrome varies worldwide and even within countries. In this vignette study we quantified agreement among ten multidisciplinary prenatal diagnosis centers in Paris. Methods We submitted online three cases of Turner syndrome (increased nuchal translucency, normal ultrasound, aortic coarctation) to fetal medicine experts: one obstetrician, one pediatrician and one geneticist in each of the ten Parisian centers. Each case was presented in the form of a progressive clinical history with conditional links dependent upon responses. The background to each case was provided, along with the medical history of the parents and the counseling they got from medical staff. The experts indicated online whether or not they would accept the parents’ request for TOP. We assessed the percentage of agreement for acceptance or refusal of TOP. We also used a multilevel logistic regression model to evaluate differences among obstetrician-gynecologists, pediatricians and cytogeneticists. Results Overall agreement among the experts to accept or refuse TOP was, respectively, 25 and 28%. The percentage of disagreement was 47%. The percentage of agreement to accept TOP was 33, 8 and 33% for obstetrician-gynecologists, pediatricians and cytogeneticists, respectively. The respective percentages of agreement to refuse TOP were 19, 47 and 26%. Conclusion Our results show the lack of consensus with regard to decisions related to termination of pregnancy for Turner Syndrome. This lack of consensus in turn underscores the importance of multidisciplinary management of these pregnancies in specialized fetal medicine centers.

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