Angiographic demonstration of an aberrant abdominal umbilical artery in a patient with penoscrotal transposition and caudal regression

AbstractSirenomelia, commonly known as mermaid syndrome is a rare congenital condition, featured by fusion of the lower limbs. This represents the most severe form of caudal regression syndrome, in which all the structures from the caudal mesoderm fail to develop properly. There is a marked deformity in the musculoskeletal system at the caudal end of the trunk and lower limbs. It is invariably associated with visceral malformations of the urogenital and gastrointestinal systems like agenesis or hypoplasia of renal tissue, blind termination of the colon, absent external genitalia and imperforate anus. It is usually associated with single umbilical artery. Though association with maternal diabetes has been described, the causative mechanisms remain unclear. The condition is generally fatal, due to associated developmental anomalies ofkidneys and other viscera.

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Particularities of a Fetus with Sirenomelia and Conceptual Separation from Caudal Regression Syndrome

ARS Medica Tomitana ◽

10.2478/arsm-2020-0010 ◽

2020 ◽

Vol 26 (1) ◽

pp. 48-51

Author(s):

Martinescu Alina ◽

Corici Paul Daniel ◽

Jianu Valentina ◽

Francu Valentina

Keyword(s):

Umbilical Artery ◽

First Trimester ◽

Lower Limbs ◽

Complete Fusion ◽

Caudal Regression Syndrome ◽

Fetal Autopsy ◽

First Case ◽

Caudal Regression ◽

Last Stage ◽

Different Characteristics

Abstract Sirenomelia is a very rare congenital anomaly, defined by partial or complete fusion of the lower limbs. Additional malformations may also occur, the phenotype being variable. Over time, sirenomelia has been considered the last stage of the evolution of caudal regression syndrome. However, the different characteristics in the context of the two syndromes, such as the single umbilical artery or, less often, two vessels, renal agenesis and the imperforate anus characteristic of sirenomelia as opposed to caudal regression syndrome where all three umbilical vessels are identified, along with sacral agenesis, led to the separation of the two entities. Sirenomelia is a multifactorial disease, with genetic heterogeneity, most cases being sporadic. Its pathogenesis is incompletely deciphered. Thus, we present a case of sirenomelia, diagnosed after abortion at the end of the first trimester. The fetal autopsy gave us details of skeletal and visceral abnormalities. The sex of the aborted could not be determined due to the incomplete development of the genital tract. To our knowledge, this is the first case reported in Constanta County. We hope that this presentation will be useful in trying to understand the causes of this condition.

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Five cases of caudal regression with an aberrant abdominal umbilical artery: Further support for a caudal regression–sirenomelia spectrum

American Journal of Medical Genetics Part A ◽

10.1002/ajmg.a.32028 ◽

2007 ◽

Vol 143A (24) ◽

pp. 3175-3184 ◽

Cited By ~ 36

Author(s):

Sara M. Duesterhoeft ◽

Linda M. Ernst ◽

Joseph R. Siebert ◽

Raj P. Kapur

Keyword(s):

Umbilical Artery ◽

Caudal Regression

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154 Effects of raloxifene, tamoxifene and ?-oestradiol on angiotensin type 1 receptor expression in human umbilical artery endothelial cells incubated with high concentrations of glucose

European Heart Journal ◽

10.1016/s0195-668x(03)93699-2 ◽

2003 ◽

Vol 24 (5) ◽

pp. 14

Author(s):

T FRANCUZ

Keyword(s):

Endothelial Cells ◽

Umbilical Artery ◽

Receptor Expression ◽

Human Umbilical Artery ◽

High Concentrations ◽

Angiotensin Type

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Umbilical artery time-averaged maximum velocity: First trimester reference range

Geburtshilfe und Frauenheilkunde ◽

10.1055/s-0034-1388031 ◽

2014 ◽

Vol 74 (S 01) ◽

Author(s):

SK Amylidi ◽

P Tappeser ◽

B Mosimann ◽

J Zdanowicz ◽

M Baumann ◽

...

Keyword(s):

Umbilical Artery ◽

Reference Range ◽

Maximum Velocity ◽

First Trimester

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Single Umbilical Artery

10.32388/awbkpj ◽

2020 ◽

Author(s):

Keyword(s):

Umbilical Artery ◽

Single Umbilical Artery

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Early predictors of placental dysfunction

HEALTH OF WOMAN ◽

10.15574/hw.2016.114.25 ◽

2016 ◽

pp. 25-28

Author(s):

J.M. Melnik ◽

◽

A.A. Shlyahtina ◽

Keyword(s):

Vascular Endothelial Growth Factor ◽

Growth Factor ◽

Pregnant Women ◽

Umbilical Artery ◽

Placental Growth Factor ◽

Vascular Endothelial ◽

Endothelin 1 ◽

Placental Dysfunction ◽

Early Predictors ◽

Endothelial Growth Factor

The article presents the predictors of placental dysfunction on the early stage of pregnancy. The objective: the search for prognostic markers and criteria for the occurrence of placental insufficiency in the early stages of the gestational process to optimize the pregnancy and labor with improved perinatal outcomes. Patients and methods. To solve this goal in the period from 2013 to 2015 were conducted a comprehensive survey of 334 pregnant women, which depending on the peculiarities of pregnancy and childbirth were divided into groups. The control group consisted of 236 pregnant women with uncomplicated gestational period, no morphological signs of placental dysfunction. The study group included 98 patients with a complicated pregnancy who had revealed violations of the fetal-placental relations, which was confirmed by morphological examination of the placenta in the postpartum period. Results. It was found that pregnant women with placental insufficiency in the first trimester of pregnancy have higher levels of interleukin-1B (IL-1v) and interleukin-3 (IL-3) in comparison with physiological pregnancy, as well as there is a direct significant correlation between IL-1v and pulsative index (PI) in the spiral (r=0.84) and uterine artery (r=0.77), and the inverse correlation between the level of IL-3 and PI in the terminal branches of the umbilical artery (r=-0.69). Verified an inverse relationship between the concentration of endothelin-1, the level of vascular endothelial growth factor (r=-0.87) and placental growth factor (r=-0.73), and also a direct link between the content of endothelin-1 and PI in spiral arteries (r=0.89), uterine artery (r=0.83) and the terminal branches of the umbilical artery (r=0.79). Conclusion. Thus, it is proven that early predictors of placental dysfunction can be considered the concentration of endothelin-1, vascular endothelial growth factor, placental growth factor, interleukin-1, interleukin-3, and the indices of pulsative index. Key words: placental dysfunction, predictors, endothelin-1, vascular endothelial growth factor, placental growth factor, interleukin, pulsative index.

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USING DOPPLER TO ASSESS THE FETAL HEALTH FOR THE PREDICTION OF GESTATIONAL OUTCOME

Journal of Medicine and Pharmacy ◽

10.34071/jmp.2014.4_5.1 ◽

2014 ◽

pp. 9-18

Author(s):

Thi Linh Giang Truong ◽

Vu Quoc Huy Nguyen

Keyword(s):

Middle Cerebral Artery ◽

Cerebral Artery ◽

Umbilical Artery ◽

Functional Method ◽

Invasive Technique ◽

Routine Practice ◽

Fetal Health ◽

Uterine Arteries ◽

Non Invasive ◽

Key Words Doppler

Background: Assessment of fetal health plays the most important role in prenatal care because of influence of the prediction of gestational outcome. One of the main aims of routine antenatal care is to identify the ‘ at risk ‘ fetus in order to apply clinical interventions which could results in reduced perinatal morbidity and mortality. Doppler ultrasound is a non invasive technique whereby the movement of blood is studied by detecting the change in frequence of reflected sound, Doppler blood flow velocity waves form of fetal side (umbilical artery, middle cerebral artery ...) and maternal side ( uterine arteries) are discussed and monograms for routine practice are presented. Recently this method is important tool for qualifying high risk pregnancies and help early forecasts the health of the babies and mothers disorder. Doppler sonography in obstetrics is a widely accepted functional method of examining the prediction of gestational outcome. Key words: Doppler, umbilical artery, middle cerebral artery, uterine arteries

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The role of sildenafil citrate in the treatment of fetal growth restriction: a randomized controlled trial

International Journal of Reproduction Contraception Obstetrics and Gynecology ◽

10.18203/2320-1770.ijrcog20191929 ◽

2019 ◽

Vol 8 (5) ◽

pp. 1840

Author(s):

Ahmed Abdelshafy ◽

Khaled Ibrahim Abdullah ◽

Sherif Ashoush ◽

Heba E. Hosni

Keyword(s):

Middle Cerebral Artery ◽

Fetal Growth ◽

Cerebral Artery ◽

Fetal Growth Restriction ◽

Umbilical Artery ◽

Controlled Trial ◽

Maternity Hospital ◽

Growth Restriction ◽

Sildenafil Citrate ◽

Doppler Velocity

Background: This study was aimed to evaluate the effect of sildenafil citrate on Doppler velocity indices in patients with fetal growth restriction (FGR) associated with impaired placental circulation.Methods: A double-blinded, parallel group randomized clinical trial (clinicaltrials.gov NCT02590536) was conducted in Ain Shams Maternity Hospital, in the period between October 2015 and June 2017. Ninety pregnant women with documented intrauterine growth retardation at 24-37 weeks of gestation were randomized to either sildenafil citrate 25 mg orally every 8 hours or placebo visually-identical placebo tablets with the same regimen. The primary outcome of the study was the change in umbilical artery and fetal middle cerebral artery indices.Results: There was a significant improvement in umbilical and middle cerebral artery indices after sildenafil administration p<0.001. Present study observed that, sildenafil group, in comparison to placebo, has a significantly higher mean neonatal birth weight. 1783±241g vs 1570±455g (p<0.001). There was a significantly higher mean gestational age at delivery in women in sildenafil group 35.3±1.67 weeks, whereas it was lower in the placebo group 33.5±1.7 weeks. The side effects as headache, palpitation and facial flushing were significantly higher in sildenafil group compared to placebo group.Conclusions: The use sildenafil citrate in pregnancies with fetal growth restriction (FGR) improved the feto-placental Doppler indices (pulsatility index of umbilical artery and middle cerebral artery) and improved neonatal outcomes.

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