Detection Of Fetal Structural Abnormalities Research Articles

Application of Combined Ultrasound and Maternal Serum Biochemical Indexes in the Detection of Fetal Structural Abnormalities and Chromosomal Abnormalities

By exploring different prenatal diagnosis indications of fetal chromosomal abnormalities, it can provide a theoretical basis and reference value for clinical consultation of pregnant women with similar high-risk factors. In this paper, 1800 pregnant women undergoing amniotic fluid aspiration chromosomal examination in the prenatal diagnosis center were selected as the object of this study. Amniocentesis, fetal cell culture, and karyotype analysis were performed on pregnant women who were 14-20 weeks pregnant and had signed an informed consent. After amniocentesis fetal chromosome analysis, the type of fetal chromosomal abnormality was determined, and the detection rate of chromosomal abnormality was statistically described. Chi-square test was used for comparison between groups, P < 0.05. This study shows that the use of ultrasound screening combined with maternal serum indicators is effective in screening fetal structural abnormalities and chromosomal abnormalities in early pregnancy, and significantly improves the detection rate of chromosomal abnormalities. The detection of fetal structural malformations is also very high, but it should be combined with ultrasound screening of mid-to-late pregnancy. The tricuspid regurgitation and umbilical vein a-wave reversal in the soft ultrasound index can be used as predictors of fetal congenital heart disease in early pregnancy.

Advances in ultrasound imaging for congenital malformations during early gestation.

With refinement in ultrasound technology, detection of fetal structural abnormalities has improved and there have been detailed reports of the natural history and expected outcomes for many anomalies. The ability to either reassure a high-risk woman with normal intrauterine images or offer comprehensive counseling and offer options in cases of strongly suspected lethal or major malformations has shifted prenatal diagnoses to the earliest possible gestational age. When indicated, scans in early gestation are valuable in accurate gestational dating. Stricter sonographic criteria for early nonviability guard against unnecessary intervention. Most birth defects are without known risk factors, and detection of certain malformations is possible in the late first trimester. The best time for a standard complete fetal and placental scan is 18 to 20 weeks. In addition, certain soft anatomic markers provide clues to chromosomal aneuploidy risk. Maternal obesity and multifetal pregnancies are now more common and further limit early gestation visibility. Other advanced imaging techniques during early gestation in select cases of suspected malformations include fetal echocardiography and magnetic resonance imaging.

P05.12: Diagnosis of fetal structural abnormalities at the 11–14 week scan in a tertiary Fetal Medicine Unit

Ultrasound (US) exam in the first trimester allows the detection of many malformations, dysplasias, deformations and genetic syndromes, besides screening for chromosomal anomalies using classical markers as nuchal translucency (NT), ductus venosus and nasal bone. A total of 8783 pregnant women referred to a tertiary Fetal Medicine Center between 11 and 13 6/7 weeks of gestation were submitted to an US exam, including anatomy study and measurement of NT and other ultrasound markers for trisomies. All patients were followed until delivery, when the sonographic findings were compared to the clinical and/or pathological findings. Isolated abnormal NT were not included. First trimester scans detected 231 structural anomalies (2,9%), and 29,6% of the total defects. Most frequent diagnosis were: acrania/exencephaly, hidropsy, cystic hygroma, bladder outlet obstruction, omphalocele, gastroschisis, holoprosencephaly and Body-Stalk anomaly. First trimester US screening has a very good potential for detection of fetal structural abnormalities, but the second trimester US screening remains important to improve prenatal care.

Risk factors for congenital hypothyroidism in Egypt: results of a population case-control study (2003–2010)

BACKGROUND AND OBJECTIVESAlthough the prevention of the neuropsychological consequences of congenital hypothyroidism (CH) through the use of replacement therapy represents an important public health success, knowledge about the modifiable risk factors could reduce the number of infants affected by this disease. This study was carried out to identify risk factors for CH at Fayoum Governorate, Egypt.DESIGN AND SETTINGSThis was a population-based case-control study, which started in 2003 and was carried out for 8 years through Fayoum center of the Egyptian Ministry of Health and Population screening program for CH.METHODSThis study was a population-based case-control study carried out by using national project for CH. One control was enrolled for each new CH infant; 320 cases and 320 controls were enrolled in 8 years. Maternal and neonatal influences were investigated.RESULTSA statistically significant association of CH was observed with birth defects, female gender, gestational age >40 weeks, and gestational diabetes. An increased risk for CH was detected in twins by a multivariate analysis.CONCLUSIONOur results suggest a multifactorial origin of CH in which genetic (high frequency of additional malformations) and environmental factors (especially maternal diabetes) play a role in the development of the disease.

Is a Routine Ultrasound in the Third Trimester Justified? – Additional Fetal Anomalies Diagnosed After Two Previous Unremarkable Ultrasound Examinations

The detection of fetal structural abnormalities is a routine part of antenatal care. Ultrasound examination policies vary among European countries. An additional ultrasound for fetal structural anomalies in the 3 rd trimester seems important for many reasons. Some abnormalities develop or first become apparent later in pregnancy. The aim of the study was to analyze the rate of previously undetected structural abnormalities in the 3 rd trimester. 8074 fetuses were examined in this prospective study between 1998 and 2008. All received an examination at 11 - 14 weeks and 79 % (6378 / 8074) of these fetuses also received an ultrasound at 20 - 24 weeks. If both of the examinations did not detect structural abnormalities, the fetuses were included in the study group and received an ultrasound at 28 - 32 weeks (n = 5044). New structural abnormalities in the 3 rd trimester were analyzed. The outcome was available in 96 % of the cases. The overall incidence of fetal malformations was 3.6 % (n = 289), of which 40 % (116 / 289) were diagnosed at 11 - 14 weeks. The following 2nd trimester scan revealed 102 (35 %) new fetal malformations. An additional 44 (15 %) structural abnormalities were found in the 3 rd trimester. These were mainly abnormalities of the urogenital system (n = 18). There were also anomalies of the cardiovascular system (n = 9), the gastrointestinal system (n = 6) and the central nervous system (n = 4). One of the cases had a previously undiagnosed abnormal karyotype. The ultrasound examination in the 3 rd trimester is of additional benefit and can detect previously unknown structural abnormalities. These findings are relevant for perinatal management and postnatal follow-up.

Detection of fetal structural abnormalities by early pregnancy ultrasound in China

Detection of fetal structural abnormalities by early pregnancy ultrasound in China

P02.90: The detection of fetal structural abnormalities at first‐ and second‐trimester screening

Aim of this study was to assess the value of two stage screening by sonography in detection fetal anomalies in a low-risk obstetric population. We performed a first-trimester nuchal translucency screening at 11 to 14 weeks of gestation in 603 singleton pregnancies included a detailed morphological scan, additionally the four chamber view, the left- and right ventricular outflow tracts. The second-trimester screening at 18–22 weeks of gestation was performed in 585 singleton pregnancies. Prenatal karyotyping (21%) was performed and autopsy findings (5%)/pregnancy outcome 95% was recorded. The median maternal age of the 603 cases was 31 (range, 16–44), the median gestation at first-trimester-screening was 12 + 6 (11 + 1 to 13 + 6) weeks and the median gestation at second-trimester-screening was 19 + 2 (18 + 0 to 21 + 6) weeks. Nineteen (3%) of the 603 fetuses had a chromosomal abnormality. Of the 603 fetuses 42 had structural abnormalities considered as being detectable by sonography. At first-trimester-screening we detected 21 fetuses with structural anomalies (eight fetuses with abnormal karyotype). In 10 cases termination of pregnancy was performed. In 6 cases STS was performed which confirmed the detected malformations. In 585 cases with normal first-trimester-screening, the second-trimester screening revealed 21 fetuses with malformations The detection of structural abnormalities at first-trimester-trimester screening is possible. However, a considerable amount of malformations can only be detected at second-trimester screening.

Detection of fetal structural abnormalities by an 11–14‐week ultrasound dating scan in an unselected Swedish population

To determine the detection rate of fetal structural abnormalities by a routine 11-14-week ultrasound scan for dating in an unselected pregnant population. A prospective observational cohort study of 2,708 unselected pregnant women attending an abdominal ultrasound examination at 11-14 weeks gestation. The number of major fetal structural abnormalities diagnosed after birth was obtained from a computerized database at the same unit. Out of 2,708 pregnant women, 89 (3.3%) were found to have a missed abortion at the time of the ultrasound scan and 33 (1.2%) were diagnosed as twins. Thirteen major structural abnormalities were detected, three cases of anencephaly (one case also had a spina bifida), one case with hydranencephaly, one fetus with Dandy-Walker syndrome, two cases with gastroschisis, one case with a bilateral hydronephrosis, one case with a generalized hydrops, one fetus with multiple malformations, and three cystic hygromas. An additional 19 major structural defects were detected at birth. Four cases of neural tube defects and nine fetuses with congenital heart defects were diagnosed. The antenatal ultrasound detection rate was 40.6% (13/32). Nine patients had a nuchal translucency greater than 3.0 mm (excluding cystic hygromas); two of them had chromosomal abnormalities (trisomy 21 and trisomy 18). Fetal structural abnormalities were detected in 41% (95%CI = 24-59) of the cases in an unselected pregnant population at a routine 11-14-week ultrasound scan for dating purpose. Two out of nine fetuses with a nuchal translucency greater than 3.0 mm had a chromosomal abnormality.

1083: First trimester malformation

First trimester ultrasound is a valuable tool in early pregnancy dating. More recently, high resolution ultrasound has been employed to assess the nuchal translucency risk estimation of aneuploidy between 11 and 14 weeks gestation. Transvaginal ultrasound at this time also provides the opportunity to assess embryonic and early fetal structure and has proven to be a valuable tool in the early detection of many structural abnormalities. • Many abnormalities previously detected as late as 18 to 20 weeks may now be visualised at transvaginal ultrasound as early as 9 to 10 weeks gestation, i.e., 7 to 8 weeks following conception. While many first trimester anomalies have sonographic features similar to those ascribed in the second and third trimester of pregnancy, others have characteristic sonographic features confined to the first trimester. • There are many practical and psychological benefits to the early diagnosis of fetal malformation. Earlier prenatal diagnosis may provide the opportunity for early prenatal medical and interventional therapies which may in the future lead to improved fetal outcome. The appropriate interpretation of first trimester ultrasound however requires an in depth knowledge of sonoembryology and the pathophysiology of fetal malformation. • In contrast to the mid-trimester examination, the diagnosis in the first trimester frequently requires more than one examination. For example the diagnosis of a small omphalocele may be suspected at 9 to 10 weeks gestation but may only be confirmed at a repeat examination after 12 weeks gestation when the physiological return of bowel to the abdominal cavity should have occurred. • Thus in the first trimester there is a learning curve in the sonographic screening of many fetal structural abnormalities. Several publications have assessed the sensitivity of transvaginal ultrasound in the first trimester for detecting a variety of structural anomalies. From this data it is evident that the accuracy of fetal diagnosis increases over time and that on average the learning curve is 2 to 3 years (1,2). In this lecture, over 200 video clips of fetal malformation across all major organ systems will be presented. For further information regarding this digital video library in obstetrics and gynaecology, please refer to the website www.ultrasound.com.au (1) Detection of fetal structural abnormalities at the 11 to 14 weeks ultrasound scan. Carvalho MH, Brizot ML, Lopes LM, Chiba CH, Miyadahira S, Zugaib M. Prenat Diagn 2002 Jan; 22(1):1-4. (2) Learning curve in ultrasonographic screening for selected fetal structural anomalies in early pregnancy. Taipale P, Ammala M, Salonen R, Hiilesmaa V. Obstet Gynecol 2003 Feb;101(2):273.

OC129: Detection of fetal structural abnormalities by a 10–14‐week ultrasound dating scan in an unselected Swedish population

OC129: Detection of fetal structural abnormalities by a 10–14‐week ultrasound dating scan in an unselected Swedish population

Échographie du premier trimestre

This article studies the aim of ultrasounds for the follow-up of first trimester normal or pathological pregnancy. Two periods are analysed : before and after 11 weeks of gestation. Thus are particularly studied : fetal nuchal translucency and her aim for appraise the risk of aneuploidy, first study of fetal anatomy and detection of fetal structural abnormalities, multiple gestations and diagnostic of chorionicity

Detection of fetal structural abnormalities with US during early pregnancy.

Ultrasonography (US) is performed during early pregnancy for dating, determination of the number of fetuses, assessment of early complications, and increasingly for evaluation of the fetus, including measurement of the thickness of the nuchal translucency (NT). Measurement of NT thickness between 11 and 14 weeks gestation, combined with maternal age and maternal serum biochemistry, can be an effective method of screening for trisomy 21 and other chromosomal abnormalities. Furthermore, an increased NT thickness in the presence of a normal karyotype is associated with an increased frequency of structural defects and genetic syndromes. Therefore, this finding is an indication for a more detailed anatomic survey of the fetus. Besides nuchal abnormalities, a wide range of other congenital anomalies can be diagnosed with US at 11-14 weeks gestation, including defects of the central nervous system, heart, anterior abdominal wall, urinary tract, and skeleton. The anatomic survey can be performed with a standardized protocol by using transabdominal US and, when necessary, transvaginal US. A thorough knowledge of the US features of normal fetal development is necessary to avoid potential diagnostic pitfalls.

Detection of fetal structural abnormalities at the 11-14 week ultrasound scan.

The aim of this study was to evaluate the detection of fetal structural abnormalities by the 11-14 week scan. 2853 pregnant women were submitted to a routine ultrasound scan between the 11th and 14th week and the fetal skull, brain, spine, abdominal wall, limbs, stomach and bladder were examined. Following the scans the patients were examined in the second or third trimester of pregnancy. An isolated increased nuchal translucency was not considered an abnormality. However, these patients had an early echocardiography assessment. Fetal structural abnormalities were classified as major or minor and of early or late onset. A total of 130 (4.6%) defects were identified and 29 (22.3%) of these were diagnosed at the 11-14 week scan, including nine cardiac defects associated with increased nuchal translucency. The antenatal ultrasound detection rate was 71.5%, and 31.2% were detected in the first-trimester assessment. 78.8% of the major defects were diagnosed by the prenatal scan and 37.8% by the 11-14 week scan. Fetal structural abnormalities at the 11-14 week scan were detected in approximately 22.3% of the cases, therefore, a second-trimester anomaly scan is important in routine antenatal care to increase the prenatal detection of fetal defects.

Fetal trisomy 13 distinguished by persistent fetal tachycardia

Recent reports [1,2] have demonstrated a strong association between the first-trimester ultrasound detection of fetal structural abnormalities and aneuploidy. Offering genetic counseling and invasive prenatal diagnosis to women carrying affected fetuses is now warranted. Accordingly, ultrasound could be a useful first-trimester screening modality for detecting women at increased risk of fetal aneuploidy [2]. However, further information concerning the efficacy of first-trimester ultrasonography must be obtained before ultrasound is routinely incorporated within an obstetrical screening paradigm [31. Our patient is a 34-year-old G3P2 who was referred for counseling and chorionic villus sampling (CVS) because of advanced maternal age (35) and a child with Down’s syndrome (47,XY, +