 Hello everyone, I am Dr. Shreya Bhatt, JR-3, Department of Radiodiagnosis Narayan Medical College and I am going to be presenting Case Series on Fetal Anomalies, Ultrasonography a Boon for the Society. Introduction, Ultrasound is the standard and first choice method used for fetal anomaly screening. It is a real-time imaging modality that is easily available, cheap, easy to use and safe for fetus since it does not contain ionizing radiation. The second trimester ultrasound is commonly performed between 18-22 weeks of gestation. Historically, the second trimester ultrasound was often the only routine scan offered in a pregnancy and so was expected to provide information about gestational age, number, type of multiple pregnancy, placental positioning, pathology as well as detecting fetal abnormalities. Many patients now have several ultrasounds in their pregnancy with the first trimester and a nuclear translucency assessment being particularly common. The second trimester ultrasound is now less often required for dating or detection of multiple pregnancies but remains very important for detecting placental pathology. AIM, this case series describes the importance and imaging characteristics of ultrasonography for diagnosis of various fetal anomalies and congenital syndromes. Now case one, a 25-year-old primary gravidah female came to the Department of Radio Diagnosis for routine level 2 scan. She had no present chief complaints. Patient had abnormal hands and feet. These are the hands and feet of the female. She demonstrated lobster claw feet and hands with only two fingers. Bilateral fetal hands show absence of thumb, index and middle finger with visualized right ring, little finger both appear however fused. Bilateral feet show split foot with lobster claw appearance, similar to the mother. So the final diagnosis was ectodictile of bilateral hand and feet, Kashnaugibh Baur syndrome. Case two, a 25-year-old primary gravidah female came to the Department of Radio Diagnosis for routine antinatal scan. She had no present chief complaints. Ultrasound demonstrated a single intrauterine fetus as at 17 weeks of gestation by AC and FL with absent bony calvarium. The bony calvarium appeared to be absent hair and frog eye. Frog eye appearance was seen upon coronal section of the face. Spina bifida with cystic lesion in the lumbar region was also seen in all the three planes. This was the post-op image of the fetus after delivery. So the final diagnosis was enenkephaly with myelomaningocele, which is in the neural tube defect spectrum. Case three, a 20-year-old multi-para female came to the Department of Radio Diagnosis for routine level-to-scan. She had no present chief complaints. Bony defect was demonstrated in the occipital bone with herniation of the brain, occipital encephalocene. Also variable degree of absence of cervical vertebrae were visualized. Cervical vertebrae were not visualized clearly and the fetus had hyper-extended neck and head. Midline cleft lip was also visualized. This was the cleft lip and this is the 3D image of the cleft lip. This was image of the fetus after delivery with midline cleft and occipital defect, occipital encephalocene. So the final defect was enenkephaly, which is a neural tube defect spectrum. Enenkephaly is a rare neural tube defect with characteristic retroflexion of the fetal head as was seen in our patient. Cervical defect in the occipital bone, associated occipital encephalocene can be seen, which was also present in our patient, associated with spinal rachitis. Case 4. A 28-year-old multi-para female came to the Department of Radio Diagnosis for routine level-to-scan. She had no present chief complaints. She had a past history of misabortion six years back. Cystic lesion was seen with an enlarged posterior fossa was revealed that was contiguous with the widened fluid space between the cerebellar hemisphere. So this is the large cystic lesion. Absinthe, absence of vermis was also noted and spina bifida with a cystic lesion. This was seen in the dorsal region in all the three planes. This was the image of the fetus after delivery. This is the myelomeningocele, which was seen. So the final diagnosis was herniated dandy walker cyst with dorsal myelomeningocele. Case 5. A 32-year-old multi-para female came to the Department of Radio Diagnosis for routine level-to-scan. She had no present chief complaints. She had a past history of recurrent pregnancy losses. On the level-to-scan single ventricle was seen with absence of pharx in between and midline fused thalamine. So mono ventricle was visualized. Also this sagittal section shows a mono ventricle with a single coroid plexus. Apart from this cleft lip was also seen with cleft palate. This is the 3D image showing cleft lip and cleft palate. So clubfoot or CTEV was demonstrated in the same patient. So the final diagnosis was alobar holoprosensifeli with cleft lip, palate and bilateral CTEV. Typical findings of holoprosensifeli in its alobar form as it's supposed to be image in the first trimester, holoprosensifeli may be associated to other midline defects and many of aneuploidy such as trisomy 13 tau syndrome. Now case 6, a 25-year-old multi-pair female came to the department of radio diagnosis for routine antenatal scan. She had no present chief. Exial and coronal ultrasound images show fetal stomach. This is the fetal stomach in the thoracic area displacing the fetal heart towards right. So here we can see the fetal stomach is in the thoracic region of the fetus. Cerebral diagnosis, left-sided congenital diaphragmatic hernia. Congenital diaphragmatic hernia accounts for a small portion of diaphragmatic hernia. However it is the most common non-cardiac fetal intra-thoracic anomaly. Case 7, a 20-year-old multi-pair female came to the department of radio diagnosis for routine level 2 scan. She had no present chief complaints. Multiple small cystic spaces were seen in the right lung. These are the small cystic areas which were seen in the right lung. Right lung appeared ecogenic as compared to left. This was the left lung and this is the right lung. With multiple small cystic areas, left lung also appeared hypoplastic as compared to right. This is the side clip which shows multiple small cystic areas in the right lung. So the final diagnosis was congenital pulmonary airway malformation C-PAM in a fetus. Congenital pulmonary airway malformation C-PAM are multi cystic masses of segmental lung tissue with abnormal bronchial proliferation. C-PAMs are considered part of spectrum of bronchopulmonary foregut malformations. Case 8, a 25-year-old multi-pair came to our department for routine antinatal scan. She had no present chief complaint but she had a past history of intrauterine demise. Below are the ultrasonography images of fetal heart within which the left atria and ventricle appear hypoplastic not showing any vascularity on Doppler studies. So this is the hypoplastic left left heart, right heart appears to be normal, similarly no vascularity is seen on the left side. This side clip shows that there is a single great vessel, this likely pulmonary artery. No other great vessel is visualized in the vicinity. This image, this clip shows single ventricle and atria on the right side and left heart appears hypoplastic with a single great vessel. So the final diagnosis was hypoplastic left heart with single great vessel, spectrum of hypoplastic left heart syndrome, hypoplastic left heart syndrome which is a complex combination of cardiac malformations can be detected with prenatal evaluation with ultrason providing an option for pregnancy termination to the patients or intrauterine interventions may be performed if the patients which to continue the pregnancy. It also guides the clinicians to prepare for the postnatal interventions as and when required. Case 9, a 20-year-old multi-para came for routine level 2 scan. She had no present chief complaints. Antinatal ultrasound demonstrates a large protuberance from the anterior abdominal wall consistent with an umphalocene. The urinary bladder is exposed and opens through the abdominal defect with the bladder margins continuous with the abdominal wall resulting in a muco-cutaneous junction. Size of the extrafied bladder is variable here. So urinary bladder is herniating out through a defect. So the final diagnosis was fetal umphalocene with bladder exostrophy. Using fetal conventional sonography the presence of spinal defect in combination with the absent bladder and abdominal wall defect should allow the diagnosis of OEIS to be considered. The distinction from isolated bladder exostrophy umphalocene as in our case is important because clinical neonatal outcomes are different. Case 10, a 25-year-old multi-para came for routine antinatal scan at 22 weeks. She had no present chief complaints. Fetal urinary bladder is over-distended giving a classical keyhole appearance. There was bilateral hydronephrosis also noted. So this is the classical keyhole appearance with dilated urinary bladder and dilated urethra. So the final diagnosis was posterior urethral valve keyhole appearance. Posterior urethral valve is also referred to as congenital obstructing posterior urethral membranes, COPUM, are common congenital obstructive lesions of the urethra and common cause of obstructive uropathene infancy. Keyhole sign may be seen all ultrasound due to distension of both bladder and urethra immediately proximal to the valve. MCU was performed after the delivery of the same fetus who now presents with frequent urination and distended abdomen. In there was dilatation of the posterior urethra, this with bladder neck hypertrophy. Bladder wall had multiple traviculations. There was right-sided grade 5 vesico-uritric reflex demonstrated in the same child. Lastly, case 11, a 25-year-old female came to our department for level 2 scan. She had no present chief complaints. She had a history of recurrent pregnancy losses due to the same pathology. There is evidence of a narrow thorax with shortened ribs as seen here as compared to the abdominal circumference. The abdominal circumference was normal, but the thorax was shortened as compared to the abdominal circumference. There were associated limb shortening. All the limbs were shortened and multiple cysts were also seen in bilateral renal areas. So multiple renal cysts were also seen. So the final diagnosis was narrow thorax with shortened ribs and all four limbs which is exfixiating thoracic dysplasia also known as June syndrome. Exfixiating thoracic dysplasia also known as June syndrome is a type of rare short-limb skeletal dysplasia which is primarily characterized by narrow constricted thoracic cavity, cystic renal dysplasia and characteristic skeletal features. It is also sometimes classified as one of the short rib polydectile syndrome. We discussed 11 cases of various rare and common fetal anomalies diagnosed via antenatal ultrasonography. The use of ultrasound in the prenatal diagnosis of fetal genetic syndrome is rapidly evolving. Advancing technology and new research findings are aiding in the increased accuracy of ultrasound-based diagnosis in combination with other methods of non-invasive and invasive fetal testing. The use of three-dimensional ultrasonography in diagnosis of fetal clefts when suspected on two-dimensional ultrasonography greatly increases the sensitivity and specificity. Ultrasound can be used throughout the pregnancy to detect various fetal abnormalities. First trimester ultrasound is increasingly being used for knuckle translucency tests and also for early limited anatomical survey. Ultrasound in the first trimester has been shown to be effective in screening of aneuploidy conditions such as Trisomy 21. First trimester ultrasound largely focuses on ultras on knuckle measurements in assessment of chromosomal syndrome risk. However, second trimester ultrasound can identify much more specific defects that follow a different pattern for each genetic syndrome. Importantly, some fetal anomaly is more easily visualized later in the second trimester. Third trimester ultrasound can also be used as an enjunct to second trimester anatomical survey to follow the evolution of the identified fetal anomalies. The third trimester ultrasonography as a screening tool for fetal genetic syndrome however has limited utility. So finally the conclusion, antenatal ultrasound has evolved as a boon for society as it allows early detection and screening for fetal genetic syndromes which has improved the quality of life of many individuals. First and second trimester ultrasound provide information on possible fetal abnormalities. However, routine second trimester anatomy ultrasound is the most accurate at identifying structural abnormalities. Three-dimensional and four-dimensional ultrasounds are useful at junks in the diagnosis of select fetal anomalies and however, a normal ultrasound does not eliminate the possibility of a genetic syndrome. So these are my references, thank you.