Fetal Anomalies: role of genetics and prenatal interventions

Supplement your learning for ISUOG's education course on Fetal Anomalies.

Explore the topic before you attend our course:

In order to make the most of this learning experience and help you achieve your learning objectives, we have prepared a path to guide you from the essentials to our course’s topics through ISUOG resources. The material below will take you from the most basic aspects to a more comprehensive view of the course material, and some activities may grant you CME points.

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ISUOG Guidelines

Performance of the routine mid-trimester fetal ultrasound scan

Basic Training resources

Lecture 12: Distinguishing between normal and abnormal appearances of the fetal anatomy

Lecture 17: Distinguishing between normal and abnormal appearances of the skull and brain

Lecture 19: Assessing the neck and chest

Lecture 21: Examining the abdomen and anterior abdominal walls

Lecture 22: Distinguishing between normal and abnormal appearances of the urinary tract

Lecture 23: Distinguishing between normal & abnormal appearances of the long bones & extremities

Lecture 24: Making a decision: normal or not?

VISUOG

Diaphragmatic hernia

Congenital diaphragmatic hernia is a fetal defect associated with a higher risk of mortality due to pulmonary hypertension and lung hypoplasia. Fetal diagnosis is based on demonstration of an abnormality in the thoracic view. Prognosis is based on evaluation of the lung size in the contralateral side of the hernia.

Hydrothorax

Hydrothorax is the accumulation of fluid in the pleural space. Prenatal hydrothorax can be unilateral or bilateral and may be either an isolated finding or be secondary to another cause, even a part of a generalized hydrops. Prenatal diagnosis is based on the demonstration of fluid collection in the thorax.

Echogenic & cystic lungs

Explore chapters on Tracheal Obstruction, Echogenic Lungs and Lung Cyst.

Ventral Wall Defects

Explore chapters on Omphalocele, Gastroschisis, Bladder exstrophy, Cloacal Exstrophy and Limb Body Wall Complex.

Abdominal fluid collections

Explore chapters on Meconium Peritonitis

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Abdominal cysts

Explore chapters on choledocal cysts, mesenteric cysts, intenstinal duplication cysts, hepatic cysts, meconium pseudocyst, urinoma, splenic cysts and ovarian cysts

Obstructive Lesions

Explore chapters on Anal atresia, Volvulus, Meckel's diverticulum, Hydrometrocolpos, and Jejunal-ileal atresia

Small chest

Explore chapters on Asphyxiating thoracic dysplasia, Chondroectodermal dysplasia, Thanatophoric Dysplasia, Jarcho-Levine Syndrome and Pulmonary Hypoplasia Induced by Oligohydramnios.

Fetal Hydronephrosis

Fetal hydronephrosis is the dilation of either the fetal renal pelvis alone or of both the fetal renal pelvis and the calices. Its prevalence is 0.6-5.4%, with male predominance. The most common causes are transient hydronephrosis, ureteropelvic junction obstruction and vesicoureteral reflux. For the diagnosis the UTD classification system may be used. The prognosis is usually good; only 5% of patients will require surgery. Management should focus on careful follow-up.

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Polycystic kidneys

Explore chapters on Multicystic dysplastic kidney and Polycystic kidneys.

Abnormal bladder

Explore chapters on Megacystis, Bladder Exstrophy and Congenital Megalourethra.

Arthrogryposis

Arthrogryposes – multiple joint contractures – are a clinically and etiologically heterogeneous class of diseases, where accurate diagnosis, recognition of the underlying pathology and classification are of key importance for the prognosis as well as for the selection of appropriate management.