Year: 2023
Type: preprint
Study design: Case Report
Abstract: Background: Diseases associated with the CLPB gene are increasingly attracting the attention of researchers because of their severe fetal manifestations. However, few works of literature are related to CLPB gene-associated disorders. In the previous literature, performances of multiple systems of postnatal phenotypes are covered, but descriptions of fetal genetic phenotypes are less. One possible way to enhance the discussion surrounding fetal genetic phenotypes is to supplement the current genetic phenotype with fetal ultrasound findings. There are many references to differences in fetal growth data for this condition, but relatively few articles mention intrauterine manifestations and the presence or absence of combined amniotic fluid abnormalities. Case presentation: A 33-year-old pregnant woman, G3P2L1, had no previous adverse obstetric history. Her ultrasound examination revealed normal intrauterine pregnancy with a single live fetus. No abnormalities were found throughout the pregnancy, except for a suggestion of excessive amniotic fluid and growth figures that were two weeks behind the same gestational week and not more than two standard deviations behind. However, the fetus deteriorated after birth, suggesting CLPB gene-associated disorders, and later died. Conclusions: Fetal Polyhydramnios is a clear indication of prenatal diagnosis. The prognosis of the fetus is usually optimistic after excluding complications such as gestational diabetes mellitus and identifying fetal chromosomal risk as soon as possible. However, in some cases, we found that fetuses with simple prenatal Polyhydramnios without structural malformation during the prenatal period may have the risk of genetic metabolic diseases after birth, which brings significant challenges to prenatal consultation.
Institution: Gansu Provincial Maternal and Child Health Hospital
Language: English
Field: Medicine
Domain: Health Sciences
Open Access status: green
OpenAlex ID: W4384822189