0,03 CME

Congenital Fetal Anomalies : Clinical View

Pembicara: Dr Vishal Parmar​

MBBS, DCH, MRCPCH,Fellow in Neonatal Medicine,PGPN Bostan Pediatrician Mumbai, India.

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Keterangan

Congenital anomalies can be defined as structural or functional anomalies that occur during intrauterine life. Also called birth defects, congenital disorders, or congenital malformations, these conditions develop prenatally and may be identified before or at birth, or later in life. An estimated 6% of babies worldwide are born with a congenital anomaly, resulting in hundreds of thousands of associated deaths. However, the true number of cases may be much higher because statistics do not often consider terminated pregnancies and stillbirths. Some congenital anomalies can be treated with surgical and non-surgical options, such as cleft lip and palate, clubfoot, and hernias. Others, including heart defects, neural tube defects, and down syndrome, can cause lifelong impacts.

Congenital anomalies are one of the main causes of the global burden of disease, and low- and middle-income countries are disproportionately affected. These areas are also less likely to have facilities to treat reversible conditions such as clubfoot, leading to more pronounced and long-lasting effects.

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  • The discussion centered on fatal fetal anomalies, which are abnormal developments of organs in the uterus, most commonly affecting the heart and the urogenital system.
  • Urogenital system anomalies discussed include hypospadius and epispadius, where circumcision should be avoided and surgery considered later. Kidney issues like hydronephrosis are also common, requiring ultrasound and urine culture.
  • Cleft lip and palate are highlighted as common anomalies, often causing feeding problems. Prioritizing nutrition and weight gain is crucial, with surgeries planned around three to four months for cleft lip and one and a half years for cleft palate.
  • Spina bifida, a failure of the neural tube to close, is preventable with folic acid supplements. Management depends on the severity, ranging from a simple bone gap to more complex issues requiring surgery.
  • Congenital heart diseases (CHD) can be detected via scans. Some severe cases may lead to abortion recommendations. Early intervention with prostaglandin E1 can be life-saving in duct-dependent conditions like transposition of the great vessels.
  • Other discussed anomalies include port-wine stains.

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