الفهرس 
EMBRYOLOGYOnly 14 pages are availabe for public view
 |  | from | 176 |  |  |
| | | from | 176 | | |
Abstract
U
se of the soft markers may increase the positive predictive value of diagnosed aneuploidy fetuses as the ultrasound soft markers are found in the 5 major chromosomal aneuploidies: trisomies 21, 18, 13, Turner syndrome, and triploidy.
Mid-trimester scans in particular have become a routine part of antenatal care. These ultrasound scans detect congenital anomalies that are solitary or part of an underlying chromosomal anomaly. In addition, there are a growing number of soft markers that can be seen with ultrasound that are associated with chromosomal anomalies or poor pregnancy outcomes. As ultrasound technology has advanced the detection of these soft markers has become easier. With the increased detection of these markers comes confusion regarding the appropriate parental counseling and fetal management.
Therefore we conducted this study aimed to detect the soft markers and evaluate the usefulness of each ultrasound soft marker, assess whether a specific soft marker should be looked for routinely on screening ultrasound, by correlating these soft markers by post-natal chromosomal karyotyping to compare it with genetic outcome
It was a prospective study conducted in a private radiological center. Forty pregnant women in 16-24 weeks of gestation followed up and confirm the final diagnosis by chromosomal karyotyping.
As regard soft markers we found that out of 40 with ultrasound soft marker 21(52.5%) had Choroid plexus cyst, 7(17.5%) had thickened nuchal fold, 3(7.5%) had Hyperechogenic fetal bowel, 2 (5.0%) had fetal ventriculomegaly, 5 (12.5%) had Mild hydronephrosis, 2 (5.0%) had nasal bone hypoplasia, 1 (2.5%) had intracardiac echogenic foci, 2 (5.0%) had short long bone and 1(2.5%) had single umbilical artery.
Combined 2 soft markers or more may be associated with an increased risk for fetal aneuploidy.
As regards the correlation between ultrasound markers and abnormal karyotyping, there is positive significant correlation between abnormal karyotyping and all soft markers except echogenic bowel loops & single umbilical artery.
• Small Sample Size Of Our Study
• Equipment , techniques and hand On Expert
• Ultrasound Views Were Restricted by adiposity
Onclusion, we found an association between ultrasonic soft markers and aneuploidy in fetuses. Presence of ultrasonic soft markers as choroid plexus cyst, increased thickened nuchal fold, ,hyperechogenic fetal bowel, fetal ventriculomegaly, mild pyelectasis , hypolastic or absent nasal bone , intracardiac echogenic foci, short long bone and single umbilical artery..
Maternal age ≥35.0 years had highest balanced characteristics of diagnosis, followed by having two or more signs & positive history of consanguinity .
It is important to understand the characteristics of each soft marker to prevent unnecessary karyotyping and to perform necessary karyotyping.
• In second trimester scanning , if we found single viable fetus with more than one soft marker in maternal age >35 years old with positive history of consanguinity , further assessments is advisable as prenatal cell-free DNA.
• Whereas the sample size of our study is small , we found that absent nasal bone , hypoplastic nasal bone , and intra cadiac echogenic foci have high diagnostic value so we recommend further evaluation as amniocentesis or cell-free DNA.
• Other soft markers were founded should be followed up every 4 week , and after labour should be carefully examined by neonatologist .