Related Experiment Video
Updated: Jun 25, 2026
03:19
Point-of-Care Kidney and Genitourinary Ultrasound in Adults: Image Acquisition
Published on: June 21, 2024
Recurrent cystic hygroma with hydrops
Laxmi Baxi1, Stephen Brown, Kavita Desai
1Department of Obstetrics and Gynecology, College of Physicians and Surgeons of Columbia University and Sloane Hospital for Women of Columbia University Medical Center at NY Presbyterian Hospital, New York, NY 10032, USA. lvb1@columbia.edu
Fetal Diagnosis and Therapy
|March 12, 2009
Summary
This study presents a patient with recurrent cystic hygroma (CH) and hydrops in five fetuses across four pregnancies. The findings suggest a potential new autosomal recessive disorder causing fetal abnormalities.
Area of Science:
- Medical Genetics
- Prenatal Diagnosis
- Fetal Abnormalities
Background:
- Recurrent fetal abnormalities pose diagnostic challenges.
- Cystic hygroma (CH) and hydrops fetalis are significant indicators of underlying fetal conditions.
- Genetic counseling is crucial for recurrent pregnancy complications.
Observation:
- A 39-year-old patient experienced recurrent fetal cystic hygroma and hydrops in five fetuses over four pregnancies.
- Three affected fetuses had normal karyotypes, excluding aneuploidy as the sole cause.
- The patient's spouse has Gaucher disease, but the patient is not a carrier.
Findings:
- Products of conception showed low normal glucocerebrosidase levels without a known Gaucher mutation.
- Recurrent CH and hydrops in fetuses with normal karyotypes were observed.
- The pattern suggests a novel autosomal recessive condition.
Implications:
- This case highlights a potential new genetic disorder.
- Further research is needed to identify the specific gene responsible for this autosomal recessive condition.
- Understanding this disorder can improve genetic counseling and prenatal diagnosis for similar cases.
Related Concept Videos
01:27Cytomegalovirus Disease
Cytomegalovirus (CMV) disease is caused by human cytomegalovirus, a double-stranded DNA virus of the Herpesviridae family. While primary CMV infection is often asymptomatic in immunocompetent individuals, the virus can cause severe disease in neonates and immunocompromised patients. CMV is the most common cause of congenital viral infection in the United States, and a major pathogen in solid organ and hematopoietic stem cell transplant recipients.CMV is transmitted via bodily fluids, sexual...
01:29Cardiomyopathy III: Hypertrophic Cardiomyopathy
Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...