PGD – Pre-implantation Genetic Diagnosi
Amniocentesis and chorionic villus sampling (CVS) are among the most common tests for detecting genetic disorders. These tests’ main downside – they are invasive procedures that carry a risk for miscarriage (albeit a small risk) and are performed during the pregnancy when the fetus is already developing in the uterus. Many couples do not wish […]
Anatomy scan – fetal ultrasound – ultrasound screening for fetal anomalies
An anatomy scan (also known as fetal ultrasound, anomaly scan or anatomy ultrasound) is a test that checks the fetus’ development and detects fetal anatomy abnormalities and severe diseases. These are conditions that can affect the baby’s life and the parents’ wish to continue the pregnancy. The scan is performed by a gynecologist (usually one […]
Weaver syndrome – Genetic testing for Weaver overgrowth disorder
Weaver syndrome is an overgrowth disorder that begins prenatally and is characterized by an accelerated bone development. Other symptoms of this disorder include reduced muscle tone with exaggerated reflexes, a slow development of voluntary movement, psychomotor retardation, distinct physical features, and limb defects. Babies with Weaver syndrome have a hoarse, low-pitched cry. The disorder was […]
Fetal echocardiography
Fetal echocardiography (also known as fetal echo) is an ultrasound test that focuses on the developing fetus’ heart. Like echocardiography tests in adults, fetal echocardiography checks for possible heart defects and evaluates the function of the heart during pregnancy. This procedure is usually performed by a pediatric cardiologist, or by a gynecologist that specializes in […]
Percutaneous umbilical cord blood sampling – cordocentesis (PUBS)
The fetus, like an adult, has a circulatory system that passes blood cells throughout the blood vessels in the body. Unlike adults, fetal circulation has not fully matured and shows several circulatory changes that will be explained in the following article. While in adults gas exchange occurs in the lungs (carbon dioxide is replaced by […]
Fetal tissue biopsy – fetal skin sampling
There are various genetic tests aimed at detecting fetal genetic mutations, conducting carrier screening for parents, and diagnosing genetic diseases in children. Accordingly, some tests are performed by parents at the pre-conception stage, or on cell cultures before implantation. Other tests are preformed prenatally (during pregnancy), while certain tests are performed postnatally (after birth). This […]
