Abstract:We report a case of prenatal exposure to angiotensin II receptor antagonists (ARA
II) from the beginning of pregnancy in a patient with a hypokinetic dilated
cardiomyopathy. This case report emphasizes the fetal renal impact of prolonged
intrauterine exposure to renin-angiotensin system (RAS) blockers, and highlights
that this exposure can cause severe prenatal hypocalvaria. This delayed
ossification can be reversible after birth, but the presence of anhydramnios
indicates an early and irreversible block of RA… Show more
“…Ultrasound demonstrated the absence of macroscopic kidney malformations; however, the urinary bladder was not identified secondary to reduced fetal urine production. There are similar reported cases in the literature [6].…”
Section: Discussionsupporting
confidence: 81%
“…In most cases, the condition is lethal in the neonatal period due to anuria, respiratory failure from pulmonary hypoplasia, and severe, treatment-refractory hypotension [2]. Additional features are poor skull ossification from an inactive RAS which leads to hypotension, chronic hypoxia, and underdevelopment of the membranous skull bones [5,6].…”
Section: Discussionmentioning
confidence: 99%
“…The novel feature of this case study is the confirmation of a genetic diagnosis of ARRTD prenatally. A few recent studies have initially investigated oligohydramnios using noninvasive prenatal testing [8] or placental biopsy [6] which showed no chromosomal abnormalities. Further molecular testing and genetic diagnosis of ARRTD were not performed in these cases until the fetus had been born (and subsequently passed away) or terminated.…”
Introduction: Autosomal recessive renal tubular dysgenesis (ARRTD) is a rare disorder of renal tubular development. ARRTD is a severe condition with high risk of fetal demise and early neonatal death with only limited case reports of survival over two years [1]. Prenatal diagnosis of ARRTD is challenging and diagnosis has only previously been confirmed after postnatal or post-mortem investigation. Case: To the best of our knowledge, we describe the first reported case of utilising targeted genetic testing on the chorionic villous sample (CVS) to identify a homozygous variant in the angiotensinogen (AGT) gene. Discussion: By substantiating the diagnosis of ARRTD prenatally we allow timely and appropriate counselling during pregnancy.
“…Ultrasound demonstrated the absence of macroscopic kidney malformations; however, the urinary bladder was not identified secondary to reduced fetal urine production. There are similar reported cases in the literature [6].…”
Section: Discussionsupporting
confidence: 81%
“…In most cases, the condition is lethal in the neonatal period due to anuria, respiratory failure from pulmonary hypoplasia, and severe, treatment-refractory hypotension [2]. Additional features are poor skull ossification from an inactive RAS which leads to hypotension, chronic hypoxia, and underdevelopment of the membranous skull bones [5,6].…”
Section: Discussionmentioning
confidence: 99%
“…The novel feature of this case study is the confirmation of a genetic diagnosis of ARRTD prenatally. A few recent studies have initially investigated oligohydramnios using noninvasive prenatal testing [8] or placental biopsy [6] which showed no chromosomal abnormalities. Further molecular testing and genetic diagnosis of ARRTD were not performed in these cases until the fetus had been born (and subsequently passed away) or terminated.…”
Introduction: Autosomal recessive renal tubular dysgenesis (ARRTD) is a rare disorder of renal tubular development. ARRTD is a severe condition with high risk of fetal demise and early neonatal death with only limited case reports of survival over two years [1]. Prenatal diagnosis of ARRTD is challenging and diagnosis has only previously been confirmed after postnatal or post-mortem investigation. Case: To the best of our knowledge, we describe the first reported case of utilising targeted genetic testing on the chorionic villous sample (CVS) to identify a homozygous variant in the angiotensinogen (AGT) gene. Discussion: By substantiating the diagnosis of ARRTD prenatally we allow timely and appropriate counselling during pregnancy.
“…Assumed the observed adverse pregnancy outcomes ascribed mainly to the drugs, the increased teratogenic risk could be conceivably attributed to inhibition of RAAS, a system that plays a key role in the embryogenic and fetal development of several organs/systems 9,58‐60 . Not only does fetal RAAS blockade syndrome occur following ACEI/ARB exposure during the second and third trimesters of pregnancy it also may occur in those who are exposed to ACEIs/ARBs at the beginning of pregnancy 15,61 . Although there are unknown biologic mechanisms underlying adverse birth outcomes, inhibition of angiogenesis has been postulated to be a possible mechanism for the CVS malformations 62 .…”
Section: Discussionmentioning
confidence: 99%
“…In the 2013 Report of the American College of Obstetricians and Gynecologists’ Task Force on Hypertension in Pregnancy, it has been recommended not to use ACEIs/ARBs in women of reproductive age if there is no compelling reason 12 . Despite such a feature in the labeling of the potentially teratogenic medications, several cases of fetal exposure to ACEIs/ARBs have been reported thereafter 13‐15 . ACEI/ARB exposure during pregnancy is still highly prevalent in many settings 16,17 …”
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