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Intrahepatic Cholestasis of Pregnancy, Genetic Testing

Intrahepatic cholestasis of pregnancy (obstetric cholestasis) is a liver disorder that occurs during pregnancy, leading to reduced bile flow and accumulation of bile acids in the blood. Symptoms include itching, particularly in the hands and feet. While intrahepatic gestational cholestasis usually resolves after childbirth, medications and supportive measures can be used to manage symptoms. The assessment of the Polygenic Risk Score for intrahepatic gestational cholestasis (obstetric cholestasis) is based on examining 9 gene polymorphisms.

Genetic testing for intrahepatic gestational cholestasis (obstetric cholestasis) is included along with 13 other diseases in the Genetic Screening for Endocrine and Genitourinary Diseases, Polygenic Risk Score.

Causes and non-genetic risk factors

The exact causes of this disturbance in the digestive functioning of pregnant women are unknown. Pregnancy hormones seem to be involved since they may slow down the normal flow of bile. Other factors that may favor intrahepatic cholestasis during gestation are:

  • History of intrahepatic cholestasis in previous pregnancies. About 60-70% of women present this condition recurrently in subsequent pregnancies, and it can reach 90% in severe cases
  • Prior history of liver damage or disease, including cholelithiasis or Hepatitis C or B infections
  • Twin or multiple pregnancies
  • Assisted reproduction techniques
Symptoms

Intense itching, usually at night without rash, is the main symptom, and it occurs in most women on the palms of the hands or soles of the feet or even in some pregnant women on all parts of the body. However, after delivery, it usually disappears within a few days.

Other less common signs and symptoms include:

  • Jaundice (yellowing of the skin and whites of the eyes)
  • Nausea
  • Loss of appetite

The consequences on the pregnant mother would be limited to fat malabsorption, which could trigger blood clotting problems, but this is an infrequent complication. However, in the developing fetus, more severe complications such as fetal distress, meconium inhalation, premature delivery, or intrauterine fetal death could occur.

Prevention

The available knowledge about intrahepatic cholestasis of pregnancy does not allow for its early prevention. However, as with other pathologies, following a healthy and balanced diet with plenty of fresh fruits and vegetables can help reduce the risk of cholestasis or its severity and other problems during pregnancy.

Additional information
Results Time4 - 5 Weeks
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