Prenatal diagnosis and treatment for fetal angiotensin converting enzyme deficiency.

ABSTRACT:

Objective

To elucidate an etiology in a case with persistent oligohydramnios by prenatal diagnosis and actively treat the case to achieve good prognosis.

Methods

We performed whole exome sequencing (WES) of DNA from the fetus and parents. Serial amnioinfusions were conducted until birth. Pressors were required to maintain normal blood pressure. The infant angiotensin-converting enzyme (ACE) activity, angiotensin II (Ang II, a downstream product of ACE), and compensatory enzymes (CEs) activities were measured. Compensatory enzyme activities in plasma from age-matched healthy controls were also detected.

Results

We identified a fetus with a severe ACE mutation prenatally. The infant was born prematurely without pulmonary dysplasia. Hypotension and anuria resolved sponta

SUBMITTER: Tan HJ 

PROVIDER: S-EPMC12037230 | biostudies-literature | 2024 Feb

REPOSITORIES: biostudies-literature