This video shows Fetal Congenital limb deficiency.
Fetal ultrasonography is the most important tool to provide a prenatal diagnosis of fetal anomalies. The standard obstetric ultrasound examination includes documentation of arms and legs.
A congenital limb defect is when an arm or leg doesn't form normally as a baby grows in the uterus. The exact cause of a congenital limb defect is often not known. Certain things may increase the chances of a child being born with such a defect. These include gene problems or exposure to some viruses or chemicals.
Congenital limb deficiency (CLD), one of the most common congenital anomalies, is characterized by hypoplasia/aplasia of one or more limb bones and can be isolated or syndromic. The etiology of CLD is heterogeneous, including environmental and genetic factors.
There are different limb development anomalies, including polydactyly (POD), abnormal hand position (AHP), limb reduction defects (LRD), and arthrogryposis (ART).
Polydactyly is supernumerary digits and is the most frequent congenital limb deformity.
The prenatal detection of such malformations is important for parental education, counseling, initiating appropriate planning for postnatal evaluation and treatment, and ruling out associated malformations, which may alter the management of the pregnancy.
The cause of limb reduction defects is unknown. However, research has shown that certain behaviors or exposures during pregnancy can increase the risk of having a baby with a limb reduction defect. These include Exposure of the mother to certain chemicals or viruses while she is pregnant. But in this case, this is the fourth pregnancy with two female patients affected, one male child spared ( normal), this is a female fetus, and heredity seems to be involved.
Ultrasound can provide adequate evidence for fetal limb deformities evaluation in most patients. Fetal limb deformity cases showed a significantly higher rate than other congenital malformations for advanced maternal age (at or more than 35 years old).
Phocomelia is a rare condition that affects babies at birth. This condition causes the upper or lower limbs of the child to be underdeveloped or missing. Phocomelia can affect one or multiple limbs. This condition can be caused by a genetic syndrome or from exposure to a specific drug during pregnancy.
Limb buds are first seen by ultrasound at about the 8th week of gestation: the upper limb buds of the humeri are seen at 8 weeks, one week before the femora, the tibia/fibula and radius/ulna from 10 weeks, and digits of hands and feet from 11 weeks.
4 main causes of birth defects
Smoking, drinking alcohol or taking certain drugs during pregnancy. Having certain medical conditions, such as being obese or having uncontrolled diabetes before and during pregnancy. Taking certain medications, such as isotretinoin (a drug used to treat severe acne). Having someone in your family with a birth defect.
Radial ray deficiency is the most common upper-limb deficiency, and hypoplasia of the fibula is the most common lower-limb deficiency.
Types of congenital limb deficiency
The standard nomenclature divides limb deficiencies into two basic types - longitudinal and transverse. Longitudinal deficiencies are along the long axis of the limb and are distinguished into further subgroups: preaxial (radial and tibial side), postaxial (ulnar and fibular side), and axial (central).
Some congenital limb differences are first detected during a prenatal ultrasound before the baby is born. For instance, 80 percent of clubfeet can be diagnosed through ultrasound by 24 weeks. This gives expecting parents a chance to learn about treatment options and plan ahead before their child is born.
The two most common genetic causes of congenital anomalies are single-gene defects and chromosomal abnormalities.
For most birth defects, we think they are caused by a complex mix of factors. These factors include our genes (information inherited from our parents), our behaviors, and things in the environment.
How limb reduction defects are prevented
Although there are many causes of limb reduction, women who take folic acid during pregnancy have a 30-40% reduced risk of having a child with a limb deformity. Lower limbs are affected less often than upper limbs.
3 types of congenital disorders
Chromosomal
orofacial clefts,
neural tube defects, and.
limb deficiencies.