Congenital Heart Defects
The fetal heart is already formed during the first trimester. The first heartbeats can be detected in week 5-6 of gestation. Normally, during week 10, the heart is already anatomically complete. From this stage onwards it undergoes mainly processes of growth. Congenital heart defects are caused by non-optimal cardiac development during fetal development. The prevalence […]
Multiple Congenital Anomalies
Multiple congenital defects can be caused by various factors which are not necessarily genetic. However, there are more than seven thousand known genetic syndromes characterized by a combination of birth defects. In some of these syndromes, symptoms include intellectual disability, while in other syndromes birth defects are mostly structural (related to the structure of various […]
Neural Tube Defects
Neural tube defects (or NTDs) are a congenital defect that occurs in around 3,000 births a year in the US. NTDs are considered the second most common birth anomaly, after congenital heart defects. NTDs occur at a rather early stage of fetal development (when the spine is supposed to form a tube shape). When this […]
Micrognathia (Small Lower Jaw)
Micrognathia, or a small lower jaw, can appear in three clinical forms: as an isolated finding, micrognathia that is associated with a certain genetic disorder (combined with additional findings), or micrognathia as part of Pierre Robin sequence. What are the symptoms? When inherited micrognathia is an isolated finding, the problem is usually purely aesthetic. However, […]
Microcephaly – small head circumference
Fetal small head circumference is not always caused by a genetic disorder. In some cases, microcephaly runs in families (a condition known as benign familial microcephaly), in these cases there are no other symptoms, such as intellectual disability. In addition, a small head circumference may be caused by damage to the developing fetal brain tissue […]
Congenital adrenal hyperplasia (CAH)
What are the adrenal glands? The adrenal glands, also called the suprarenal glands, regulate the production of hormones necessary for the body’s function. The hormones produced by the adrenal gland cortex are divided into three types: hormones related to the reproductive system and development of the genitals, hormones related to the body’s reaction to stress […]
